#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
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				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)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	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.chr8:41790659T>G	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.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		7	77	0	0	0	1	0	7	77				
PDXDC2P	283970	broad.mit.edu	37	16	70016654	70016654	+	RNA	SNP	A	A	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:70016654A>G	ENST00000531894.1	-	0	2280				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										GTCTTCAGGAAAGGCACCTAG	0.502																																						ENST00000325845.7																			0				breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(211-213)Ttc>Ctc																																								0							g.chr16:70016654A>G			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70016654A>G						RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.F86L|PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR	p.F71L							22	2280	-								A8K9Z5	Missense_Mutation	SNP	ENST00000531894.1	37	c.211T>C		.	.	.	.	.	.	.	.	.	.	.	6.324	0.427831	0.11987	.	.	ENSG00000226232	ENST00000532298;ENST00000325845	T;T	0.47177	0.85;0.85	0.659	0.659	0.17861	.	.	.	.	.	T	0.36276	0.0961	.	.	.	.	.	.	B	0.22480	0.07	B	0.27796	0.083	T	0.44298	-0.9337	6	0.48119	T	0.1	.	.	.	.	.	67	A8MZ50	NPIL4_HUMAN	L	86;71	ENSP00000448651:F86L;ENSP00000449128:F71L	ENSP00000449128:F71L	F	-	1	0	RP11-419C5.2	68574155	0.026000	0.19158	0.015000	0.15790	0.014000	0.08584	-0.258000	0.08733	0.571000	0.29365	0.310000	0.20435	TTC		0.502	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			6	316	0	0	0	1	0	6	316				
TRIM36	55521	broad.mit.edu	37	5	114506859	114506859	+	Intron	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:114506859C>T	ENST00000282369.3	-	2	185				TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000379618.2_Missense_Mutation_p.A42T|TRIM36_ENST00000513154.1_5'Flank|TRIM36_ENST00000515104.1_5'Flank	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36						acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GTCGCTGTGGCAAGTTCCGTC	0.473																																						ENST00000379618.2																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(124-126)Gcc>Acc		tripartite motif containing 36							161.0	171.0	168.0					5																	114506859		2202	4300	6502	SO:0001627	intron_variant	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114506859C>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.64-7410G>A	5.37:g.114506859C>T						TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000282369.3_Intron	p.A42T	NM_001017397.1	NP_001017397.1	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	2	632	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	0					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.124G>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874607	0.51695	.	.	ENSG00000152503	ENST00000379618	.	.	.	2.72	-0.427	0.12310	.	.	.	.	.	T	0.27900	0.0687	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.27400	-1.0075	7	0.87932	D	0	.	4.467	0.11694	0.2814:0.5796:0.0:0.139	.	42	Q0P5Z9	.	T	42	.	ENSP00000368938:A42T	A	-	1	0	TRIM36	114534758	0.000000	0.05858	0.001000	0.08648	0.816000	0.46133	0.007000	0.13174	-0.114000	0.11936	0.585000	0.79938	GCC		0.473	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		97	206	0	0	0	1	0	97	206				
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41.0	51.0	47.0					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		22	142	0	0	0	1	0	22	142				
STAB1	23166	broad.mit.edu	37	3	52554552	52554552	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:52554552G>A	ENST00000321725.6	+	53	5712	c.5636G>A	c.(5635-5637)cGg>cAg	p.R1879Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1879					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTTGAGACCCGGCCCCTGCGA	0.652																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(5635-5637)cGg>cAg		stabilin 1							45.0	44.0	44.0					3																	52554552		2202	4300	6502	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52554552G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5636G>A	3.37:g.52554552G>A	ENSP00000312946:p.Arg1879Gln						p.R1879Q	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	53	5712	+			1879					A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.5636G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	7.127	0.579134	0.13686	.	.	ENSG00000010327	ENST00000321725	D	0.84442	-1.85	5.58	-3.3	0.05003	.	0.623306	0.16047	N	0.232123	T	0.56863	0.2014	N	0.03608	-0.345	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.48603	-0.9021	10	0.25751	T	0.34	.	1.1024	0.01687	0.4049:0.1113:0.1451:0.3386	.	1879	Q9NY15	STAB1_HUMAN	Q	1879	ENSP00000312946:R1879Q	ENSP00000312946:R1879Q	R	+	2	0	STAB1	52529592	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.111000	0.15458	-0.269000	0.09298	-0.136000	0.14681	CGG		0.652	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		45	71	0	0	0	1	0	45	71				
GDPD4	220032	broad.mit.edu	37	11	76982196	76982196	+	Missense_Mutation	SNP	C	C	T	rs367777591		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:76982196C>T	ENST00000376217.2	-	6	629	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	GDPD4_ENST00000315938.4_Missense_Mutation_p.V127M|GDPD4_ENST00000527489.1_5'Flank			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	127					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						AAACATGCCACGTAGAAGGCC	0.483																																						ENST00000315938.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.(379-381)Gtg>Atg		glycerophosphodiester phosphodiesterase domain containing 4		C	MET/VAL	0,4400		0,0,2200	94.0	83.0	87.0		379	-2.0	0.0	11		87	1,8583	1.2+/-3.3	0,1,4291	no	missense	GDPD4	NM_182833.1	21	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	benign	127/521	76982196	1,12983	2200	4292	6492	SO:0001583	missense	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76982196C>T	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.379G>A	11.37:g.76982196C>T	ENSP00000365390:p.Val127Met					GDPD4_ENST00000376217.2_Missense_Mutation_p.V127M	p.V127M	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN			6	629	-			127					Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.379G>A		.	.	.	.	.	.	.	.	.	.	C	2.897	-0.228315	0.06022	0.0	1.16E-4	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.16073	2.37;2.43	4.55	-2.0	0.07433	.	0.670270	0.15204	N	0.274867	T	0.07728	0.0194	L	0.29908	0.895	0.09310	N	1	P	0.38167	0.621	B	0.26969	0.075	T	0.21109	-1.0255	10	0.39692	T	0.17	-0.5584	5.3776	0.16174	0.5872:0.1974:0.0:0.2154	.	127	Q6W3E5-2	.	M	127	ENSP00000365390:V127M;ENSP00000320815:V127M	ENSP00000320815:V127M	V	-	1	0	GDPD4	76659844	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.182000	0.09726	-0.554000	0.06150	-0.500000	0.04577	GTG		0.483	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		43	112	0	0	0	1	0	43	112				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			5	206	0	0	0	1	0	5	206				
SSPO	23145	broad.mit.edu	37	7	149516508	149516508	+	RNA	SNP	C	C	T	rs376818048		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:149516508C>T	ENST00000378016.2	+	0	11911							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCGCCGCCTGCGGGCATACCG	0.706																																						ENST00000378016.2																			0													SCO-spondin		C		0,3896		0,0,1948	14.0	19.0	17.0		11925	3.2	1.0	7		17	11,8233		0,11,4111	no	coding-notMod3	SSPO	NM_198455.2		0,11,6059	TT,TC,CC		0.1334,0.0,0.0906			149516508	11,12129	1948	4122	6070			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149516508C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149516508C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11911	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.706	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				19	108	0	0	0	1	0	19	108				
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs200185441		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L	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_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	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		4	135	0	0	0	1	0	4	135				
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)Agt>Ggt																																						SO:0001583	missense	0							g.chr20:29628299A>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.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G	p.S101G							6	681	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	218	0	0	0	1	0	4	218				
RAD54L	8438	broad.mit.edu	37	1	46726266	46726266	+	Missense_Mutation	SNP	C	C	T	rs149141765		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:46726266C>T	ENST00000371975.4	+	6	1134	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	RAD54L_ENST00000442598.1_Missense_Mutation_p.R154W	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	154					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R154W(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TAAGGTTTTGCGGCCTCATCA	0.537								Direct reversal of damage;Homologous recombination					C|||	1	0.000199681	0.0	0.0	5008	,	,		22956	0.001		0.0	False		,,,				2504	0.0					ENST00000371975.4																			1	Substitution - Missense(1)	p.R154W(1)	cervix(1)	breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(460-462)Cgg>Tgg	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)		C	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	139.0	128.0	132.0		460,460	3.8	1.0	1	dbSNP_134	132	0,8600		0,0,4300	no	missense,missense	RAD54L	NM_001142548.1,NM_003579.3	101,101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	154/748,154/748	46726266	2,13004	2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46726266C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.460C>T	1.37:g.46726266C>T	ENSP00000361043:p.Arg154Trp					RAD54L_ENST00000442598.1_Missense_Mutation_p.R154W	p.R154W	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	6	1134	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	154					Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.460C>T	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614125	0.66672	4.54E-4	0.0	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.95205	-3.64;-3.64	5.75	3.8	0.43715	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.98327	0.9445	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98550	1.0636	10	0.87932	D	0	-18.6346	13.7348	0.62811	0.4359:0.5641:0.0:0.0	.	154	Q92698	RAD54_HUMAN	W	154	ENSP00000396113:R154W;ENSP00000361043:R154W	ENSP00000361043:R154W	R	+	1	2	RAD54L	46498853	0.999000	0.42202	0.996000	0.52242	0.998000	0.95712	1.055000	0.30467	0.698000	0.31739	0.655000	0.94253	CGG		0.537	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		5	342	0	0	0	1	0	5	342				
NEK10	152110	broad.mit.edu	37	3	27385769	27385769	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:27385769A>T	ENST00000429845.2	-	6	718	c.356T>A	c.(355-357)aTa>aAa	p.I119K	NEK10_ENST00000341435.5_Missense_Mutation_p.I119K			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	119					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTACCTGCTTATGAGTCTATT	0.368																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(355-357)aTa>aAa		NIMA-related kinase 10							96.0	80.0	85.0					3																	27385769		1566	3579	5145	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27385769A>T	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.356T>A	3.37:g.27385769A>T	ENSP00000395849:p.Ile119Lys					NEK10_ENST00000341435.5_Missense_Mutation_p.I119K	p.I119K			Q6ZWH5	NEK10_HUMAN			6	718	-			119					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.356T>A		.	.	.	.	.	.	.	.	.	.	A	14.38	2.516764	0.44763	.	.	ENSG00000163491	ENST00000341435;ENST00000396636;ENST00000435750	T;T	0.69806	-0.43;1.43	5.77	4.6	0.57074	.	0.321330	0.34362	N	0.004032	T	0.43322	0.1242	N	0.08118	0	0.80722	D	1	B	0.27068	0.167	B	0.23275	0.045	T	0.39165	-0.9627	10	0.59425	D	0.04	.	7.8361	0.29371	0.7204:0.1429:0.0:0.1367	.	119	Q6ZWH5	NEK10_HUMAN	K	119	ENSP00000343847:I119K;ENSP00000395338:I119K	ENSP00000343847:I119K	I	-	2	0	NEK10	27360773	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.392000	0.34486	1.093000	0.41377	0.533000	0.62120	ATA		0.368	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		61	68	0	0	0	1	0	61	68				
RERE	473	broad.mit.edu	37	1	8418382	8418382	+	Missense_Mutation	SNP	G	G	A	rs368040659		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:8418382G>A	ENST00000337907.3	-	21	4847	c.4213C>T	c.(4213-4215)Cgc>Tgc	p.R1405C	RERE_ENST00000400908.2_Missense_Mutation_p.R1405C|RERE_ENST00000476556.1_Missense_Mutation_p.R851C|RERE_ENST00000377464.1_Missense_Mutation_p.R1137C|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1405					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GATGCCATGCGCTCTGCGTGG	0.642																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4213-4215)Cgc>Tgc		arginine-glutamic acid dipeptide (RE) repeats		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4398		0,0,2199	78.0	64.0	69.0		4213,2551,4213	5.6	1.0	1		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	180,180,180	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1405/1567,851/1013,1405/1567	8418382	1,12997	2199	4300	6499	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8418382G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4213C>T	1.37:g.8418382G>A	ENSP00000338629:p.Arg1405Cys					RERE_ENST00000476556.1_Missense_Mutation_p.R851C|RERE_ENST00000400908.2_Missense_Mutation_p.R1405C|RERE_ENST00000377464.1_Missense_Mutation_p.R1137C|RERE_ENST00000400907.2_Intron	p.R1405C	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	21	4847	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1405					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.4213C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347872	0.82022	0.0	1.16E-4	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.60548	0.18;0.2;0.18	5.61	5.61	0.85477	.	.	.	.	.	T	0.78065	0.4225	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79732	-0.1680	9	0.87932	D	0	-28.4026	18.9896	0.92786	0.0:0.0:1.0:0.0	.	1405	Q9P2R6	RERE_HUMAN	C	1405;1137;851;1405	ENSP00000338629:R1405C;ENSP00000366684:R1137C;ENSP00000383700:R1405C	ENSP00000338629:R1405C	R	-	1	0	RERE	8340969	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.049000	0.57397	2.793000	0.96121	0.655000	0.94253	CGC		0.642	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			11	86	0	0	0	1	0	11	86				
LINC01098	285501	broad.mit.edu	37	4	178897004	178897004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:178897004G>A	ENST00000507870.1	+	5	669	c.207G>A	c.(205-207)tgG>tgA	p.W69*																	lung(8)|prostate(1)	9						GTCATCACTGGGGCACGGGAA	0.413																																						ENST00000507870.1																			0				lung(8)|prostate(1)	9						c.(205-207)tgG>tgA									197.0	200.0	199.0					4																	178897004		1880	4101	5981	SO:0001587	stop_gained	0							g.chr4:178897004G>A																												ENST00000507870.1:c.207G>A	4.37:g.178897004G>A	ENSP00000421352:p.Trp69*						p.W69*							5	669	+									Nonsense_Mutation	SNP	ENST00000507870.1	37	c.207G>A		.	.	.	.	.	.	.	.	.	.	G	27.2	4.805314	0.90623	.	.	ENSG00000231171	ENST00000507870	.	.	.	4.08	0.213	0.15244	.	.	.	.	.	.	.	.	.	.	.	0.46260	A	0.998958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5629	0.07889	0.18:0.0:0.4517:0.3683	.	.	.	.	X	69	.	.	W	+	3	0	RP11-389E17.1	179133998	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	0.106000	0.15354	-0.004000	0.14419	-0.188000	0.12872	TGG		0.413	RP11-389E17.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000361922.1			6	256	0	0	0	1	0	6	256				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000432169.1_5'Flank|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		8	388	0	0	0	1	0	8	388				
MAD2L1	4085	broad.mit.edu	37	4	120987848	120987848	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:120987848G>A	ENST00000296509.6	-	1	381	c.42C>T	c.(40-42)cgC>cgT	p.R14R	RP11-679C8.2_ENST00000504106.1_RNA|RP11-679C8.2_ENST00000511064.1_RNA|RP11-679C8.2_ENST00000508362.1_RNA|RP11-679C8.2_ENST00000503073.1_RNA	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	14	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						CGGCGCTCCCGCGCAGGGTGA	0.632																																						ENST00000296509.5																			0				breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						c.(40-42)cgC>cgT		MAD2 mitotic arrest deficient-like 1 (yeast)							38.0	40.0	39.0					4																	120987848		2203	4300	6503	SO:0001819	synonymous_variant	4085				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity	g.chr4:120987848G>A	U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.42C>T	4.37:g.120987848G>A							p.R14R	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN			1	381	-			14			HORMA.		Q53F56|Q548X9|Q6IRW7|Q8IZX3	Silent	SNP	ENST00000296509.6	37	c.42C>T	CCDS3715.1																																																																																				0.632	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2			5	209	0	0	0	1	0	5	209				
OSBPL8	114882	broad.mit.edu	37	12	76779953	76779953	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:76779953C>A	ENST00000261183.3	-	14	2007	c.1528G>T	c.(1528-1530)Gaa>Taa	p.E510*	OSBPL8_ENST00000393250.4_Nonsense_Mutation_p.E468*|OSBPL8_ENST00000393249.2_Nonsense_Mutation_p.E468*	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	510					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AATACCTGTTCAGCAATATAA	0.318																																						ENST00000261183.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(1528-1530)Gaa>Taa		oxysterol binding protein-like 8							44.0	42.0	43.0					12																	76779953		2203	4298	6501	SO:0001587	stop_gained	114882				lipid transport		lipid binding	g.chr12:76779953C>A	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1528G>T	12.37:g.76779953C>A	ENSP00000261183:p.Glu510*					OSBPL8_ENST00000393249.2_Nonsense_Mutation_p.E468*|OSBPL8_ENST00000393250.4_Nonsense_Mutation_p.E468*	p.E510*	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN			14	2007	-			510					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Nonsense_Mutation	SNP	ENST00000261183.3	37	c.1528G>T	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	C	43	9.950176	0.99303	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	.	.	.	5.65	5.65	0.86999	.	0.094278	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.0275	19.724	0.96154	0.0:1.0:0.0:0.0	.	.	.	.	X	468;510;495;468;510;510;485	.	ENSP00000261183:E510X	E	-	1	0	OSBPL8	75304084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.092000	0.71414	2.654000	0.90174	0.557000	0.71058	GAA		0.318	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		59	84	1	0	8.4772e-36	1	9.258e-36	59	84				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	87	0	0	0	1	0	7	87				
ROBO3	64221	broad.mit.edu	37	11	124749808	124749808	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:124749808G>A	ENST00000397801.1	+	26	4114	c.3922G>A	c.(3922-3924)Gtg>Atg	p.V1308M	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_Missense_Mutation_p.V71M|ROBO3_ENST00000538940.1_Missense_Mutation_p.V1286M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1308					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGTCCAGGCCGTGCCCCTGGC	0.692																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(3922-3924)Gtg>Atg		roundabout, axon guidance receptor, homolog 3 (Drosophila)							12.0	17.0	15.0					11																	124749808		2027	4174	6201	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124749808G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3922G>A	11.37:g.124749808G>A	ENSP00000380903:p.Val1308Met					ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.V1286M|ROBO3_ENST00000543966.1_Missense_Mutation_p.V71M	p.V1308M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	26	4114	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1308						Missense_Mutation	SNP	ENST00000397801.1	37	c.3922G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	5.514	0.279841	0.10458	.	.	ENSG00000154134	ENST00000397801;ENST00000538940;ENST00000543966	T;T;T	0.64438	-0.1;-0.09;0.88	5.28	-0.16	0.13375	.	1.155830	0.06713	N	0.773491	T	0.45276	0.1334	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.23119	-1.0197	10	0.29301	T	0.29	.	7.3071	0.26453	0.2549:0.0:0.6225:0.1226	.	1308	Q96MS0	ROBO3_HUMAN	M	1308;1286;71	ENSP00000380903:V1308M;ENSP00000441797:V1286M;ENSP00000438799:V71M	ENSP00000380903:V1308M	V	+	1	0	ROBO3	124255018	0.001000	0.12720	0.002000	0.10522	0.021000	0.10359	0.938000	0.28965	-0.348000	0.08286	-1.004000	0.02495	GTG		0.692	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		16	39	0	0	0	1	0	16	39				
ABHD8	79575	broad.mit.edu	37	19	17411740	17411740	+	Missense_Mutation	SNP	G	G	A	rs376723965		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:17411740G>A	ENST00000247706.3	-	2	925	c.686C>T	c.(685-687)gCg>gTg	p.A229V	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	229							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CTCAGCCAGCGCATAGAAGGT	0.602																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(685-687)gCg>gTg		abhydrolase domain containing 8		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	69.0	75.0	73.0		686	5.6	1.0	19		73	0,8598		0,0,4299	no	missense	ABHD8	NM_024527.4	64	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	229/440	17411740	1,13003	2203	4299	6502	SO:0001583	missense	79575						hydrolase activity	g.chr19:17411740G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.686C>T	19.37:g.17411740G>A	ENSP00000247706:p.Ala229Val					MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.A229V	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	925	-			229					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.686C>T	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158303	0.94686	2.27E-4	0.0	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.67865	-0.29	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.73969	0.3655	M	0.71871	2.18	0.80722	D	1	D	0.56287	0.975	P	0.51415	0.669	T	0.71833	-0.4473	10	0.28530	T	0.3	-40.0914	17.1044	0.86658	0.0:0.0:1.0:0.0	.	229	Q96I13	ABHD8_HUMAN	V	229;175	ENSP00000247706:A229V	ENSP00000247706:A229V	A	-	2	0	ABHD8	17272740	1.000000	0.71417	0.993000	0.49108	0.926000	0.56050	9.173000	0.94815	2.644000	0.89710	0.561000	0.74099	GCG		0.602	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		6	455	0	0	0	1	0	6	455				
OSBPL1A	114876	broad.mit.edu	37	18	21894217	21894217	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21894217C>G	ENST00000319481.3	-	12	1171	c.965G>C	c.(964-966)aGa>aCa	p.R322T	OSBPL1A_ENST00000357041.4_5'Flank	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	322	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GATTACCTCTCTTGACTGCTG	0.378																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(964-966)aGa>aCa		oxysterol binding protein-like 1A							94.0	92.0	92.0					18																	21894217		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21894217C>G	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.965G>C	18.37:g.21894217C>G	ENSP00000320291:p.Arg322Thr						p.R322T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			12	1171	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		322			PH.		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.965G>C	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388844	0.82902	.	.	ENSG00000141447	ENST00000319481	T	0.59772	0.24	5.7	5.7	0.88788	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.422043	0.28414	N	0.015439	T	0.81564	0.4849	M	0.90759	3.145	0.80722	D	1	D;D	0.76494	0.999;0.981	D;D	0.78314	0.991;0.966	D	0.83501	0.0075	10	0.52906	T	0.07	-25.6707	19.8161	0.96568	0.0:1.0:0.0:0.0	.	322;322	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	T	322	ENSP00000320291:R322T	ENSP00000320291:R322T	R	-	2	0	OSBPL1A	20148215	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.495000	0.73665	2.680000	0.91292	0.585000	0.79938	AGA		0.378	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		48	262	0	0	0	1	0	48	262				
FMN2	56776	broad.mit.edu	37	1	240371616	240371616	+	Silent	SNP	A	A	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:240371616A>T	ENST00000319653.9	+	5	3734	c.3504A>T	c.(3502-3504)ctA>ctT	p.L1168L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1168	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCCCCTCTACCCGGAGCGG	0.687																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3502-3504)ctA>ctT		formin 2							6.0	7.0	6.0					1																	240371616		2102	4161	6263	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371616A>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3504A>T	1.37:g.240371616A>T							p.L1168L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3734	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1168			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3504A>T	CCDS31069.2																																																																																				0.687	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	70	0	0	0	1	0	4	70				
RBM17	84991	broad.mit.edu	37	10	6157416	6157416	+	Splice_Site	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:6157416C>T	ENST00000446108.1	+	12	1747	c.1103C>T	c.(1102-1104)gCg>gTg	p.A368V	RBM17_ENST00000476706.1_3'UTR|RBM17_ENST00000379888.4_Splice_Site_p.A368V	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	368	RRM.				alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TGCCTTTCAGCGGTTGTTGAC	0.353																																						ENST00000446108.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						c.e12-1		RNA binding motif protein 17							173.0	159.0	164.0					10																	6157416		2203	4300	6503	SO:0001630	splice_region_variant	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6157416C>T	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.1103-1C>T	10.37:g.6157416C>T						RBM17_ENST00000379888.4_Splice_Site_p.A368_splice|RBM17_ENST00000476706.1_3'UTR	p.A368_splice	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN			12	1747	+			368			RRM.		Q96GY6	Splice_Site	SNP	ENST00000446108.1	37	c.1102_splice	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653982	0.88056	.	.	ENSG00000134453	ENST00000379888;ENST00000446108	.	.	.	4.93	4.93	0.64822	RNA recognition motif domain, eukaryote (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91544	0.5252	8	.	.	.	.	18.519	0.90944	0.0:1.0:0.0:0.0	.	368	Q96I25	SPF45_HUMAN	V	368	.	.	A	+	2	0	RBM17	6197422	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.091000	0.76923	2.424000	0.82194	0.655000	0.94253	GCG		0.353	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905	Missense_Mutation	11	289	0	0	0	1	0	11	289				
TSPAN12	23554	broad.mit.edu	37	7	120478922	120478922	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:120478922G>A	ENST00000222747.3	-	4	801	c.194C>T	c.(193-195)cCg>cTg	p.P65L	TSPAN12_ENST00000415871.1_Missense_Mutation_p.P65L	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	65					angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|regulation of angiogenesis (GO:0045765)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.P65Q(1)		endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AATCATGACCGGATGAACCAC	0.373																																						ENST00000222747.3																			1	Substitution - Missense(1)	p.P65Q(1)	lung(1)	endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10						c.(193-195)cCg>cTg		tetraspanin 12							162.0	153.0	156.0					7																	120478922		2203	4300	6503	SO:0001583	missense	23554				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction		g.chr7:120478922G>A	AF124522	CCDS5777.1	7q31.31	2013-02-14	2005-03-21	2005-03-21	ENSG00000106025	ENSG00000106025		"""Tetraspanins"""	21641	protein-coding gene	gene with protein product		613138	"""transmembrane 4 superfamily member 12"""	TM4SF12			Standard	NM_012338		Approved	NET-2	uc003vjk.3	O95859	OTTHUMG00000156980	ENST00000222747.3:c.194C>T	7.37:g.120478922G>A	ENSP00000222747:p.Pro65Leu					TSPAN12_ENST00000415871.1_Missense_Mutation_p.P65L	p.P65L	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN			4	801	-	all_neural(327;0.117)		65					A4D0V8|B4DRG6|Q549U9|Q8N5Y0	Missense_Mutation	SNP	ENST00000222747.3	37	c.194C>T	CCDS5777.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127309	0.77549	.	.	ENSG00000106025	ENST00000222747;ENST00000415871;ENST00000441017;ENST00000433758;ENST00000424710;ENST00000430985	T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.99	5.99	0.97316	.	0.052782	0.85682	D	0.000000	T	0.70500	0.3231	L	0.45581	1.43	0.80722	D	1	B	0.32829	0.386	B	0.32465	0.146	T	0.65047	-0.6263	10	0.21540	T	0.41	-14.5881	20.5371	0.99232	0.0:0.0:1.0:0.0	.	65	O95859	TSN12_HUMAN	L	65	ENSP00000222747:P65L;ENSP00000397699:P65L;ENSP00000411158:P65L;ENSP00000399059:P65L;ENSP00000404942:P65L;ENSP00000388819:P65L	ENSP00000222747:P65L	P	-	2	0	TSPAN12	120266158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.398000	0.90195	2.857000	0.98124	0.650000	0.86243	CCG		0.373	TSPAN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346951.1	NM_012338		6	541	0	0	0	1	0	6	541				
BAGE2	85319	broad.mit.edu	37	21	11098827	11098827	+	RNA	SNP	C	C	T	rs79274499	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr21:11098827C>T	ENST00000470054.1	-	0	98							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccatccagagcgagacgagcc	0.637																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							18.0	29.0	26.0					21																	11098827		691	1591	2282			85319							g.chr21:11098827C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098827C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	98	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.637	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		20	187	0	0	0	1	0	20	187				
LRP5	4041	broad.mit.edu	37	11	68216515	68216515	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:68216515T>C	ENST00000294304.7	+	23	4931	c.4825T>C	c.(4825-4827)Tcc>Ccc	p.S1609P	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1609	Pro-rich.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCCCCTCCGTCCCCCTGCAC	0.582																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4825-4827)Tcc>Ccc		low density lipoprotein receptor-related protein 5							33.0	36.0	35.0					11																	68216515		2200	4292	6492	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68216515T>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4825T>C	11.37:g.68216515T>C	ENSP00000294304:p.Ser1609Pro					LRP5_ENST00000529481.1_3'UTR	p.S1609P	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			23	4931	+			1609			Pro-rich.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4825T>C	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019969	0.54576	.	.	ENSG00000162337	ENST00000294304	D	0.96830	-4.14	4.53	4.53	0.55603	.	0.000000	0.46145	U	0.000317	D	0.97791	0.9275	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.98611	1.0663	10	0.87932	D	0	.	14.0922	0.64998	0.0:0.0:0.0:1.0	.	1609;1609	Q9UES7;O75197	.;LRP5_HUMAN	P	1609	ENSP00000294304:S1609P	ENSP00000294304:S1609P	S	+	1	0	LRP5	67973091	1.000000	0.71417	0.932000	0.37286	0.021000	0.10359	7.395000	0.79876	1.919000	0.55581	0.454000	0.30748	TCC		0.582	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		4	190	0	0	0	1	0	4	190				
LRRC37BP1	147172	broad.mit.edu	37	17	28958830	28958830	+	RNA	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:28958830G>A	ENST00000417404.1	+	0	0									leucine rich repeat containing 37B pseudogene 1																		TTACAAGCCCGGAAGCAGCAC	0.488																																						ENST00000412831.1																			0																																																			0							g.chr17:28958830G>A	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28958830G>A						SMURF2P1_ENST00000578265.1_RNA								0	58	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.488	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		5	595	0	0	0	1	0	5	595				
KIR3DL2	3812	broad.mit.edu	37	19	55378105	55378105	+	Silent	SNP	G	G	A	rs190401211		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:55378105G>A	ENST00000326321.3	+	9	1320	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	KIR3DL2_ENST00000270442.5_Silent_p.T412T|RNU6-222P_ENST00000362438.1_RNA|KIR3DL1_ENST00000402254.2_Silent_p.T429T	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	429					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GCGTGTACACGGAACTTCCAA	0.522																																						ENST00000326321.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(1285-1287)acG>acA		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2							288.0	281.0	283.0					19																	55378105		2203	4300	6503	SO:0001819	synonymous_variant	3812				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55378105G>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1287G>A	19.37:g.55378105G>A						KIR3DL1_ENST00000402254.2_Silent_p.T429T|KIR3DL2_ENST00000270442.5_Silent_p.T412T	p.T429T	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1320	+			429					Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Silent	SNP	ENST00000326321.3	37	c.1287G>A	CCDS12906.1																																																																																				0.522	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			286	596	0	0	0	1	0	286	596				
LZTS2	84445	broad.mit.edu	37	10	102765276	102765276	+	Missense_Mutation	SNP	C	C	T	rs368966948		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:102765276C>T	ENST00000370220.1	+	3	4193	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	LZTS2_ENST00000370223.3_Missense_Mutation_p.A377V					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAGGACTGTGCGGCCCAGGCA	0.657																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1129-1131)gCg>gTg		leucine zipper, putative tumor suppressor 2		C	VAL/ALA	1,4395		0,1,2197	22.0	27.0	25.0		1130	1.6	0.0	10		25	0,8564		0,0,4282	no	missense	LZTS2	NM_032429.2	64	0,1,6479	TT,TC,CC		0.0,0.0227,0.0077	benign	377/670	102765276	1,12959	2198	4282	6480	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102765276C>T	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1130C>T	10.37:g.102765276C>T	ENSP00000359240:p.Ala377Val					LZTS2_ENST00000370223.3_Missense_Mutation_p.A377V	p.A377V			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	3	4193	+			377						Missense_Mutation	SNP	ENST00000370220.1	37	c.1130C>T	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941222	0.34283	2.27E-4	0.0	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.48836	0.8;0.8	5.09	1.64	0.23874	.	0.379079	0.28284	N	0.015912	T	0.33644	0.0870	L	0.31420	0.93	0.09310	N	0.999999	B	0.12630	0.006	B	0.10450	0.005	T	0.29119	-1.0022	10	0.48119	T	0.1	4.0816	10.9855	0.47520	0.0:0.7431:0.0:0.2569	.	377	Q9BRK4	LZTS2_HUMAN	V	377	ENSP00000359243:A377V;ENSP00000359240:A377V	ENSP00000314437:A377V	A	+	2	0	LZTS2	102755266	0.000000	0.05858	0.000000	0.03702	0.364000	0.29643	0.846000	0.27682	0.519000	0.28406	0.561000	0.74099	GCG		0.657	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		5	223	0	0	0	1	0	5	223				
CAND2	23066	broad.mit.edu	37	3	12856671	12856671	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:12856671C>T	ENST00000456430.2	+	8	1079	c.1038C>T	c.(1036-1038)gaC>gaT	p.D346D	CAND2_ENST00000295989.5_Silent_p.D253D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	346	Poly-Asp.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATGACGATGACATGAGCTGGA	0.617																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1036-1038)gaC>gaT		cullin-associated and neddylation-dissociated 2 (putative)							60.0	67.0	65.0					3																	12856671		2156	4255	6411	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12856671C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1038C>T	3.37:g.12856671C>T						CAND2_ENST00000295989.5_Silent_p.D253D	p.D346D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			8	1079	+			346			Poly-Asp.		B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.1038C>T	CCDS54554.1																																																																																				0.617	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		65	74	0	0	0	1	0	65	74				
C2orf71	388939	broad.mit.edu	37	2	29296840	29296840	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:29296840G>A	ENST00000331664.5	-	1	287	c.288C>T	c.(286-288)acC>acT	p.T96T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	96					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AAGAGGTTTTGGTTCCTGGGA	0.483																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(286-288)acC>acT		chromosome 2 open reading frame 71							250.0	234.0	239.0					2																	29296840		1943	4137	6080	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296840G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.288C>T	2.37:g.29296840G>A							p.T96T	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	287	-			96						Silent	SNP	ENST00000331664.5	37	c.288C>T	CCDS42669.1																																																																																				0.483	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		184	392	0	0	0	1	0	184	392				
HOXA5	3202	broad.mit.edu	37	7	27182747	27182747	+	Silent	SNP	C	C	T	rs202017218		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:27182747C>T	ENST00000222726.3	-	1	540	c.480G>A	c.(478-480)gcG>gcA	p.A160A	HOXA3_ENST00000521401.1_5'Flank|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA5_ENST00000520854.1_5'Flank|HOXA6_ENST00000521478.1_5'Flank|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	160					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A160A(2)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TCTGCGCACTCGCCTGCTCGC	0.692													C|||	1	0.000199681	0.0008	0.0	5008	,	,		10202	0.0		0.0	False		,,,				2504	0.0				Colon(119;75 2200 7557 42868)	ENST00000222726.3																			2	Substitution - coding silent(2)	p.A160A(2)	lung(2)	central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						c.(478-480)gcG>gcA		homeobox A5							57.0	70.0	65.0					7																	27182747		2199	4295	6494	SO:0001819	synonymous_variant	3202				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27182747C>T		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.480G>A	7.37:g.27182747C>T						HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA	p.A160A	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN			1	540	-			160					A4D179|O43367|Q96CY6	Silent	SNP	ENST00000222726.3	37	c.480G>A	CCDS5406.1																																																																																				0.692	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1			184	332	0	0	0	1	0	184	332				
DCAF12L2	340578	broad.mit.edu	37	X	125299404	125299404	+	Silent	SNP	G	G	A	rs200451403		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:125299404G>A	ENST00000360028.2	-	1	530	c.504C>T	c.(502-504)ggC>ggT	p.G168G	DCAF12L2_ENST00000538699.1_Silent_p.G168G			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	168										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGGGGTTTTCGCCGCCGGTGG	0.672													G|||	8	0.00211921	0.0053	0.0	3775	,	,		10935	0.001		0.0	False		,,,				2504	0.0					ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(502-504)ggC>ggT		DDB1 and CUL4 associated factor 12-like 2		G		18,3817		0,14,4,1618,567	62.0	69.0	67.0		504	-7.2	0.0	X		67	0,6728		0,0,0,2428,1872	no	coding-synonymous	DCAF12L2	NM_001013628.2		0,14,4,4046,2439	AA,AG,A,GG,G		0.0,0.4694,0.1704		168/464	125299404	18,10545	2203	4300	6503	SO:0001819	synonymous_variant	340578							g.chrX:125299404G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.504C>T	X.37:g.125299404G>A						DCAF12L2_ENST00000360028.2_Silent_p.G168G	p.G168G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	584	-			168					B2RN42	Silent	SNP	ENST00000360028.2	37	c.504C>T	CCDS43991.1																																																																																				0.672	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		78	222	0	0	0	1	0	78	222				
C15orf41	84529	broad.mit.edu	37	15	36989551	36989551	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:36989551G>A	ENST00000566621.1	+	8	754	c.504G>A	c.(502-504)ctG>ctA	p.L168L	C15orf41_ENST00000437989.2_Silent_p.L168L|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000338183.4_Silent_p.L70L|C15orf41_ENST00000567389.1_Silent_p.L70L|C15orf41_ENST00000562877.1_Silent_p.L70L|C15orf41_ENST00000569302.1_Silent_p.L168L	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	168										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		ATGAGGTCCTGCTGAGAGACT	0.423																																						ENST00000566621.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(502-504)ctG>ctA		chromosome 15 open reading frame 41							189.0	189.0	189.0					15																	36989551		1918	4141	6059	SO:0001819	synonymous_variant	84529						protein binding	g.chr15:36989551G>A	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.504G>A	15.37:g.36989551G>A						C15orf41_ENST00000338183.4_Silent_p.L70L|C15orf41_ENST00000569302.1_Silent_p.L168L|C15orf41_ENST00000567389.1_Silent_p.L70L|C15orf41_ENST00000562877.1_Silent_p.L70L|C15orf41_ENST00000437989.2_Silent_p.L168L|C15orf41_ENST00000565792.1_3'UTR	p.L168L	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)	8	754	+		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)	168					B2RD87	Silent	SNP	ENST00000566621.1	37	c.504G>A	CCDS45215.1																																																																																				0.423	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		19	402	0	0	0	1	0	19	402				
ST8SIA2	8128	broad.mit.edu	37	15	93007522	93007522	+	Silent	SNP	G	G	A	rs377119605		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:93007522G>A	ENST00000268164.3	+	6	1272	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	ST8SIA2_ENST00000539113.1_Silent_p.P324P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	345					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AGGCCAGCCCGCATACCATGC	0.572																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(1033-1035)ccG>ccA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							92.0	85.0	88.0					15																	93007522		2198	4298	6496	SO:0001819	synonymous_variant	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:93007522G>A	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.1035G>A	15.37:g.93007522G>A						ST8SIA2_ENST00000539113.1_Silent_p.P324P	p.P345P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		6	1272	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		345					Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	c.1035G>A	CCDS10372.1																																																																																				0.572	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		22	384	0	0	0	1	0	22	384				
KRTAP5-3	387266	broad.mit.edu	37	11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	rs75371407		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:1629156T>A	ENST00000399685.1	-	1	537	c.460A>T	c.(460-462)Agc>Tgc	p.S154C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	154	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(460-462)Agc>Tgc		keratin associated protein 5-3							127.0	139.0	135.0					11																	1629156		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629156T>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.460A>T	11.37:g.1629156T>A	ENSP00000382592:p.Ser154Cys						p.S154C	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	537	-		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)	154			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.460A>T	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	T	2.139	-0.397181	0.04899	.	.	ENSG00000196224	ENST00000399685	T	0.01084	5.36	3.75	-3.61	0.04556	.	.	.	.	.	T	0.00468	0.0015	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46331	-0.9199	9	0.51188	T	0.08	.	5.3378	0.15967	0.4233:0.1302:0.0:0.4465	.	154	Q6L8H2	KRA53_HUMAN	C	154	ENSP00000382592:S154C	ENSP00000382592:S154C	S	-	1	0	KRTAP5-3	1585732	.	.	0.594000	0.28785	0.041000	0.13682	.	.	-0.339000	0.08401	-1.270000	0.01421	AGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			6	822	0	0	0	1	0	6	822				
CACNA1G	8913	broad.mit.edu	37	17	48650072	48650072	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:48650072T>C	ENST00000359106.5	+	6	904	c.904T>C	c.(904-906)Tat>Cat	p.Y302H	CACNA1G_ENST00000514079.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Y302H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Y302H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	302					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGTCTGGACTATGAGGCCTA	0.637																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(904-906)Tat>Cat		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						38.0	43.0	41.0					17																	48650072		2108	4225	6333	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48650072T>C	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.904T>C	17.37:g.48650072T>C	ENSP00000352011:p.Tyr302His					CACNA1G_ENST00000507609.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Y302H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.Y302H	p.Y302H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		6	1276	+	Breast(11;6.7e-17)		302					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.904T>C	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	t	10.56	1.385505	0.25031	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96967	-4.04;-4.04;-4.19;-3.98;-4.03;-4.04;-4.06;-4.14;-4.1;-4.12;-4.13;-4.0;-4.01;-4.08;-4.03;-3.98;-4.06;-4.02;-4.0;-4.07;-4.04;-4.01;-4.06;-4.0;-4.06;-4.06	5.36	4.29	0.51040	Ion transport (1);	0.408184	0.18169	N	0.149521	D	0.96163	0.8749	L	0.39245	1.2	0.34568	D	0.713136	D;B;D;D;D;D;D;B;D;B;B;B;B;B;D;B;D;B;B;B;D;B;B;B;B;D	0.89917	0.999;0.015;0.99;0.998;0.994;0.999;0.999;0.014;0.999;0.015;0.014;0.012;0.015;0.014;1.0;0.007;0.999;0.028;0.015;0.015;0.999;0.015;0.014;0.016;0.002;0.998	D;B;D;D;D;D;D;B;D;B;B;B;B;B;D;B;D;B;B;B;D;B;B;B;B;D	0.87578	0.997;0.035;0.942;0.986;0.942;0.972;0.998;0.035;0.994;0.035;0.016;0.021;0.035;0.035;0.998;0.035;0.992;0.011;0.035;0.035;0.996;0.035;0.027;0.052;0.003;0.985	D	0.96169	0.9121	10	0.42905	T	0.14	.	8.0638	0.30648	0.0:0.1531:0.0:0.8469	.	302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	H	302	ENSP00000353990:Y302H;ENSP00000339302:Y302H;ENSP00000392390:Y302H;ENSP00000347078:Y302H;ENSP00000409759:Y302H;ENSP00000425522:Y302H;ENSP00000426261:Y302H;ENSP00000425451:Y302H;ENSP00000422407:Y302H;ENSP00000426814:Y302H;ENSP00000427238:Y302H;ENSP00000423112:Y302H;ENSP00000420918:Y302H;ENSP00000426172:Y302H;ENSP00000423045:Y302H;ENSP00000427173:Y302H;ENSP00000426098:Y302H;ENSP00000425698:Y302H;ENSP00000426232:Y302H;ENSP00000423317:Y302H;ENSP00000350979:Y302H;ENSP00000352011:Y302H;ENSP00000414388:Y302H;ENSP00000423155:Y302H;ENSP00000422268:Y302H;ENSP00000421518:Y302H	ENSP00000339302:Y302H	Y	+	1	0	CACNA1G	46005071	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	2.449000	0.44935	2.055000	0.61198	0.414000	0.27820	TAT		0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		37	78	0	0	0	1	0	37	78				
DPP10	57628	broad.mit.edu	37	2	116066832	116066832	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:116066832C>A	ENST00000410059.1	+	2	558	c.78C>A	c.(76-78)agC>agA	p.S26R	DPP10_ENST00000393147.2_Missense_Mutation_p.S30R|DPP10_ENST00000310323.8_Missense_Mutation_p.S19R|DPP10_ENST00000409163.1_5'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	26	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GAAGTAACAGCCCTCCACAGA	0.403																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(76-78)agC>agA		dipeptidyl-peptidase 10 (non-functional)							185.0	170.0	175.0					2																	116066832		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116066832C>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.78C>A	2.37:g.116066832C>A	ENSP00000386565:p.Ser26Arg					DPP10_ENST00000310323.8_Missense_Mutation_p.S19R|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.S30R	p.S26R	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			2	558	+			26			Mediates effects on KCND2.		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.78C>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011923	0.35511	.	.	ENSG00000175497	ENST00000410059;ENST00000393146;ENST00000393147;ENST00000310323	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.6	2.8	0.32819	.	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	M	0.66939	2.045	0.49389	D	0.999782	B;B;B;B	0.34103	0.331;0.437;0.113;0.192	B;B;B;B	0.32342	0.144;0.117;0.046;0.046	T	0.48139	-0.9061	10	0.87932	D	0	-1.0384	10.6572	0.45682	0.0:0.7958:0.0:0.2042	.	19;30;22;26	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	R	26;22;30;19	ENSP00000386565:S26R;ENSP00000376854:S22R;ENSP00000376855:S30R;ENSP00000309066:S19R	ENSP00000309066:S19R	S	+	3	2	DPP10	115783302	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.653000	0.24902	1.369000	0.46134	0.655000	0.94253	AGC		0.403	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		48	129	1	0	6.17242e-35	1	6.69687e-35	48	129				
STARD3	10948	broad.mit.edu	37	17	37819133	37819133	+	Missense_Mutation	SNP	G	G	A	rs35874339		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:37819133G>A	ENST00000336308.5	+	15	1528	c.1310G>A	c.(1309-1311)cGc>cAc	p.R437H	STARD3_ENST00000394250.4_Missense_Mutation_p.R419H|TCAP_ENST00000309889.2_5'Flank|STARD3_ENST00000544210.2_Missense_Mutation_p.R437H|TCAP_ENST00000578283.1_5'Flank|STARD3_ENST00000580611.1_Missense_Mutation_p.A419T	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	437	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGCGACAGCGCATCAGCGAG	0.667																																						ENST00000336308.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14						c.(1309-1311)cGc>cAc		StAR-related lipid transfer (START) domain containing 3							95.0	93.0	94.0					17																	37819133		2203	4300	6503	SO:0001583	missense	0				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37819133G>A		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.1310G>A	17.37:g.37819133G>A	ENSP00000337446:p.Arg437His					STARD3_ENST00000580611.1_Missense_Mutation_p.A419T|STARD3_ENST00000394250.4_Missense_Mutation_p.R419H|STARD3_ENST00000544210.2_Missense_Mutation_p.R437H	p.R437H	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		15	1528	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		437			START.		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	c.1310G>A	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675964	0.67928	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	T;T;T	0.79141	-1.24;-1.24;-1.24	5.42	5.42	0.78866	Lipid-binding START (3);START-like domain (1);	0.113059	0.64402	D	0.000020	T	0.71392	0.3334	L	0.43757	1.38	0.40933	D	0.984408	B;B;B;B;B	0.30889	0.187;0.299;0.008;0.123;0.021	B;B;B;B;B	0.25405	0.035;0.06;0.005;0.041;0.017	T	0.68934	-0.5278	10	0.29301	T	0.29	.	18.8211	0.92097	0.0:0.0:1.0:0.0	.	437;202;437;419;437	F5H0G2;Q59EN9;B4DUY1;A8MXA4;Q14849	.;.;.;.;STAR3_HUMAN	H	437;437;419	ENSP00000337446:R437H;ENSP00000439869:R437H;ENSP00000377794:R419H	ENSP00000337446:R437H	R	+	2	0	STARD3	35072659	1.000000	0.71417	0.969000	0.41365	0.686000	0.39977	7.494000	0.81503	2.544000	0.85801	0.561000	0.74099	CGC		0.667	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			6	860	0	0	0	1	0	6	860				
KIF16B	55614	broad.mit.edu	37	20	16360059	16360059	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:16360059C>G	ENST00000354981.2	-	19	2745	c.2588G>C	c.(2587-2589)tGt>tCt	p.C863S	KIF16B_ENST00000408042.1_Missense_Mutation_p.C863S|KIF16B_ENST00000378003.2_Missense_Mutation_p.C89S|KIF16B_ENST00000355755.3_Missense_Mutation_p.C863S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	863	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACATTTTAAACACTCTAGGAT	0.403																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2587-2589)tGt>tCt		kinesin family member 16B							151.0	148.0	149.0					20																	16360059		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360059C>G	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2588G>C	20.37:g.16360059C>G	ENSP00000347076:p.Cys863Ser					KIF16B_ENST00000378003.2_Missense_Mutation_p.C89S|KIF16B_ENST00000355755.3_Missense_Mutation_p.C863S|KIF16B_ENST00000408042.1_Missense_Mutation_p.C863S	p.C863S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2745	-			863			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2588G>C	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	0.484	-0.878412	0.02550	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.6	-10.4	0.00318	.	0.880733	0.10214	N	0.701715	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12013	0.001;0.005;0.001;0.001	B;B;B;B	0.13407	0.006;0.009;0.009;0.003	T	0.26780	-1.0093	10	0.17832	T	0.49	.	5.1572	0.15040	0.1466:0.2449:0.073:0.5355	.	863;863;863;863	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	S	863;863;707;89;863	ENSP00000347076:C863S;ENSP00000347995:C863S;ENSP00000367242:C89S;ENSP00000384164:C863S	ENSP00000347076:C863S	C	-	2	0	KIF16B	16308059	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.795000	0.04580	-2.085000	0.00864	-0.781000	0.03364	TGT		0.403	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		9	485	0	0	0	1	0	9	485				
PDXDC2P	283970	broad.mit.edu	37	16	70016657	70016657	+	RNA	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:70016657G>A	ENST00000531894.1	-	0	2277				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										TTCAGGAAAGGCACCTAGGAA	0.493																																						ENST00000325845.7																			0				breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(208-210)Cct>Tct																																								0							g.chr16:70016657G>A			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70016657G>A						RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.P85S|PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR	p.P70S							22	2277	-								A8K9Z5	Missense_Mutation	SNP	ENST00000531894.1	37	c.208C>T		.	.	.	.	.	.	.	.	.	.	.	0.028	-1.354834	0.01256	.	.	ENSG00000226232	ENST00000532298;ENST00000325845	T;T	0.27256	1.68;1.68	0.659	-1.32	0.09201	.	.	.	.	.	T	0.07503	0.0189	.	.	.	.	.	.	B	0.12013	0.005	B	0.17098	0.017	T	0.31971	-0.9924	6	0.02654	T	1	.	.	.	.	.	66	A8MZ50	NPIL4_HUMAN	S	85;70	ENSP00000448651:P85S;ENSP00000449128:P70S	ENSP00000449128:P70S	P	-	1	0	RP11-419C5.2	68574158	0.023000	0.18921	0.002000	0.10522	0.003000	0.03518	0.091000	0.15046	-2.139000	0.00807	-2.561000	0.00173	CCT		0.493	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			6	310	0	0	0	1	0	6	310				
TTN	7273	broad.mit.edu	37	2	179635138	179635138	+	Splice_Site	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:179635138C>T	ENST00000591111.1	-	35	8605		c.e35+1		TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000360870.5_Splice_Site|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCAACTTACTCTCCACGTG	0.433																																						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.e35+1		titin							70.0	69.0	69.0					2																	179635138		2203	4300	6503	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179635138C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8380+1G>A	2.37:g.179635138C>T						TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000360870.5_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000585451.1_RNA		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)		35	8605	-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	C	21.0	4.080897	0.76528	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179343383	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.814000	0.86154	2.871000	0.98454	0.655000	0.94253	.		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	11	363	0	0	0	1	0	11	363				
HPS3	84343	broad.mit.edu	37	3	148875180	148875180	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:148875180G>A	ENST00000296051.2	+	9	1693	c.1553G>A	c.(1552-1554)tGc>tAc	p.C518Y	HPS3_ENST00000460120.1_Missense_Mutation_p.C353Y	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	518					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACCCAGAGCTGCATTCACCTT	0.448									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(1552-1554)tGc>tAc		Hermansky-Pudlak syndrome 3							112.0	98.0	103.0					3																	148875180		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148875180G>A	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1553G>A	3.37:g.148875180G>A	ENSP00000296051:p.Cys518Tyr					HPS3_ENST00000460120.1_Missense_Mutation_p.C353Y	p.C518Y	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		9	1693	+			518					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.1553G>A	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618932	0.28801	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.60299	0.2;0.2	5.68	5.68	0.88126	.	0.107611	0.64402	D	0.000005	T	0.71195	0.3311	L	0.55103	1.725	0.48571	D	0.999674	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.63010	-0.6732	10	0.15499	T	0.54	-14.6517	19.7964	0.96487	0.0:0.0:1.0:0.0	.	353;518	G5E9V4;Q969F9	.;HPS3_HUMAN	Y	518;353	ENSP00000296051:C518Y;ENSP00000418230:C353Y	ENSP00000296051:C518Y	C	+	2	0	HPS3	150357870	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.884000	0.56175	2.702000	0.92279	0.655000	0.94253	TGC		0.448	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		5	319	0	0	0	1	0	5	319				
TSEN34	79042	broad.mit.edu	37	19	54696142	54696142	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:54696142C>T	ENST00000396383.1	+	4	974	c.663C>T	c.(661-663)taC>taT	p.Y221Y	TSEN34_ENST00000429671.2_Silent_p.Y221Y|TSEN34_ENST00000302937.4_Silent_p.Y221Y|MBOAT7_ENST00000245615.1_5'Flank|MBOAT7_ENST00000338624.6_5'Flank|MBOAT7_ENST00000391754.1_5'Flank|TSEN34_ENST00000396388.2_Silent_p.Y221Y|CTD-3093M3.1_ENST00000594382.1_lincRNA|MBOAT7_ENST00000431666.2_5'Flank|MBOAT7_ENST00000474910.1_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	221					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGCTGCGCTACAGTATCTACA	0.642																																					Esophageal Squamous(37;841 964 4869 42824)	ENST00000396383.1																			0				endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(661-663)taC>taT		TSEN34 tRNA splicing endonuclease subunit							60.0	63.0	62.0					19																	54696142		1947	4134	6081	SO:0001819	synonymous_variant	79042				mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr19:54696142C>T	AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"""tRNA splicing endonuclease subunits"""	15506	protein-coding gene	gene with protein product		608754	"""leukocyte receptor cluster (LRC) member 5"", ""tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)"", ""tRNA splicing endonuclease 34 homolog (S. cerevisiae)"""	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.663C>T	19.37:g.54696142C>T						TSEN34_ENST00000302937.4_Silent_p.Y221Y|TSEN34_ENST00000429671.2_Silent_p.Y221Y|TSEN34_ENST00000396388.2_Silent_p.Y221Y	p.Y221Y			Q9BSV6	SEN34_HUMAN			4	974	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		221					A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Silent	SNP	ENST00000396383.1	37	c.663C>T	CCDS42609.1																																																																																				0.642	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	NM_024075		51	240	0	0	0	1	0	51	240				
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C	rs200387712		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:100350361T>C	ENST00000348028.3	+	0	2798				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							331.0	375.0	361.0					7																	100350361		1881	4106	5987			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350361T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350361T>C						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2781	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	5.922	0.354238	0.11182	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.61392	0.11;0.11;0.11	3.16	1.24	0.21308	.	1.200500	0.06499	N	0.736017	T	0.29028	0.0721	N	0.01874	-0.695	0.20403	N	0.999901	B;B	0.14805	0.011;0.01	B;B	0.16722	0.016;0.007	T	0.18777	-1.0326	10	0.30854	T	0.27	.	4.9933	0.14226	0.0:0.6075:0.1758:0.2167	.	878;878	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	878	ENSP00000445943:L878P;ENSP00000445091:L878P;ENSP00000444427:L878P	ENSP00000423579:L878P	L	+	2	0	ZAN	100188297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	0.035000	0.15519	-0.124000	0.14976	CTC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		9	430	0	0	0	1	0	9	430				
OR4K17	390436	broad.mit.edu	37	14	20586444	20586444	+	Silent	SNP	C	C	T	rs374355972		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:20586444C>T	ENST00000315543.4	+	1	879	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTGGCCCTTCGGCAACCACT	0.418																																						ENST00000315543.4																			0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(877-879)ttC>ttT		olfactory receptor, family 4, subfamily K, member 17		C		0,4406		0,0,2203	95.0	87.0	90.0		879	-1.4	0.1	14		90	1,8599		0,1,4299	no	coding-synonymous	OR4K17	NM_001004715.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		293/344	20586444	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586444C>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.879C>T	14.37:g.20586444C>T							p.F293F	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	879	+	all_cancers(95;0.00108)		265					Q6IF12	Silent	SNP	ENST00000315543.4	37	c.879C>T	CCDS32030.1																																																																																				0.418	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			72	104	0	0	0	1	0	72	104				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K	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_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K	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		8	508	0	0	0	1	0	8	508				
FMN2	56776	broad.mit.edu	37	1	240371604	240371604	+	Silent	SNP	A	A	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:240371604A>T	ENST00000319653.9	+	5	3722	c.3492A>T	c.(3490-3492)ccA>ccT	p.P1164P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1164	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCATACCCCCACCTCCCCCTC	0.687																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3490-3492)ccA>ccT		formin 2							4.0	5.0	5.0					1																	240371604		1953	3919	5872	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371604A>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3492A>T	1.37:g.240371604A>T							p.P1164P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3722	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1164			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3492A>T	CCDS31069.2																																																																																				0.687	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	43	0	0	0	1	0	4	43				
CRIPAK	285464	broad.mit.edu	37	4	1389402	1389402	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:1389402C>T	ENST00000324803.4	+	1	4063	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	368	Interaction with PAK1.				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)			CACACACGTGCCCATGTGGAG	0.657																																						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.(1102-1104)gCc>gTc		cysteine-rich PAK1 inhibitor							183.0	187.0	186.0					4																	1389402		2203	4300	6503	SO:0001583	missense	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.chr4:1389402C>T	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.1103C>T	4.37:g.1389402C>T	ENSP00000323978:p.Ala368Val						p.A368V	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4063	+			368			Interaction with PAK1.		Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.1103C>T	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557616	0.27827	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.24151	1.87	0.708	0.708	0.18144	.	.	.	.	.	T	0.09642	0.0237	N	0.08118	0	0.09310	N	1	P	0.34587	0.458	B	0.28232	0.087	T	0.19095	-1.0316	9	0.40728	T	0.16	.	3.0643	0.06210	0.0:0.6663:0.0:0.3337	.	368	Q8N1N5	CRPAK_HUMAN	V	368;310	ENSP00000323978:A368V	ENSP00000323978:A368V	A	+	2	0	CRIPAK	1379402	0.000000	0.05858	0.005000	0.12908	0.039000	0.13416	0.579000	0.23788	0.660000	0.30964	0.184000	0.17185	GCC		0.657	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		14	3766	0	0	0	1	0	14	3766				
VPS52	6293	broad.mit.edu	37	6	33234430	33234430	+	Silent	SNP	G	G	A	rs571192587|rs184438144		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:33234430G>A	ENST00000445902.2	-	12	1403	c.1185C>T	c.(1183-1185)cgC>cgT	p.R395R	VPS52_ENST00000436044.2_Silent_p.R270R|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	395					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AAAGGTATTCGCGGCAGGAAT	0.512																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1183-1185)cgC>cgT		vacuolar protein sorting 52 homolog (S. cerevisiae)							72.0	73.0	73.0					6																	33234430		1511	2709	4220	SO:0001819	synonymous_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33234430G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1185C>T	6.37:g.33234430G>A						VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.R270R	p.R395R	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			12	1403	-			395					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	37	c.1185C>T	CCDS4770.2																																																																																				0.512	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		8	248	0	0	0	1	0	8	248				
OSBPL1A	114876	broad.mit.edu	37	18	21897296	21897296	+	Silent	SNP	C	C	T	rs367725053		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21897296C>T	ENST00000319481.3	-	10	1007	c.801G>A	c.(799-801)agG>agA	p.R267R		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	267	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTACTGTTTCCTATACCATG	0.313																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(799-801)agG>agA		oxysterol binding protein-like 1A		C		0,4406		0,0,2203	107.0	116.0	113.0		801	3.8	1.0	18		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OSBPL1A	NM_080597.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		267/951	21897296	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21897296C>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.801G>A	18.37:g.21897296C>T							p.R267R	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			10	1007	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		267			PH.		B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	c.801G>A	CCDS11884.1																																																																																				0.313	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		189	251	0	0	0	1	0	189	251				
BEND3	57673	broad.mit.edu	37	6	107391144	107391144	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:107391144C>T	ENST00000369042.1	-	4	1441	c.1251G>A	c.(1249-1251)cgG>cgA	p.R417R	BEND3_ENST00000429433.2_Silent_p.R417R			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	417	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CGGGGAAGAGCCGGTGGAGGA	0.632																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(1249-1251)cgG>cgA		BEN domain containing 3							49.0	53.0	52.0					6																	107391144		2203	4300	6503	SO:0001819	synonymous_variant	57673							g.chr6:107391144C>T	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1251G>A	6.37:g.107391144C>T						BEND3_ENST00000369042.1_Silent_p.R417R	p.R417R	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	1900	-			417			BEN 2.		A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.1251G>A	CCDS34507.1																																																																																				0.632	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		4	167	0	0	0	1	0	4	167				
ZNF266	10781	broad.mit.edu	37	19	9526402	9526402	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:9526402C>T	ENST00000592904.1	-	4	2208	c.132G>A	c.(130-132)gtG>gtA	p.V44V	ZNF266_ENST00000590306.1_Silent_p.V44V|ZNF266_ENST00000588221.1_Silent_p.V44V|ZNF266_ENST00000361151.1_Silent_p.V44V|ZNF266_ENST00000592292.1_Silent_p.V44V|ZNF266_ENST00000361451.2_Silent_p.V44V|ZNF266_ENST00000588933.1_Silent_p.V44V			Q14584	ZN266_HUMAN	zinc finger protein 266	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTTTAAGTTGCACTTTCCATT	0.418																																						ENST00000592904.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						c.(130-132)gtG>gtA		zinc finger protein 266							121.0	114.0	116.0					19																	9526402		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9526402C>T	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.132G>A	19.37:g.9526402C>T						ZNF266_ENST00000590306.1_Silent_p.V44V|ZNF266_ENST00000588933.1_Silent_p.V44V|ZNF266_ENST00000588221.1_Silent_p.V44V|ZNF266_ENST00000361451.2_Silent_p.V44V|ZNF266_ENST00000361151.1_Silent_p.V44V|ZNF266_ENST00000592292.1_Silent_p.V44V	p.V44V			Q14584	ZN266_HUMAN			4	2208	-			44					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Silent	SNP	ENST00000592904.1	37	c.132G>A	CCDS12213.1																																																																																				0.418	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			9	232	0	0	0	1	0	9	232				
ZFYVE16	9765	broad.mit.edu	37	5	79745505	79745505	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:79745505C>G	ENST00000338008.5	+	8	3379	c.3199C>G	c.(3199-3201)Cta>Gta	p.L1067V	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.L1067V|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.L1067V	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1067					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAATGCTAATCTACTCGTGAA	0.323																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3199-3201)Cta>Gta		zinc finger, FYVE domain containing 16							137.0	126.0	130.0					5																	79745505		2202	4299	6501	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79745505C>G	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.3199C>G	5.37:g.79745505C>G	ENSP00000337159:p.Leu1067Val					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.L1067V|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.L1067V	p.L1067V	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	8	3379	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	1067					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.3199C>G	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352893	0.61293	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.66280	-0.2;-0.2;-0.2	5.91	5.91	0.95273	.	0.000000	0.49305	D	0.000142	T	0.75057	0.3798	M	0.71036	2.16	0.49687	D	0.999811	D	0.65815	0.995	D	0.64144	0.922	T	0.77099	-0.2713	10	0.87932	D	0	-8.6405	11.5991	0.50993	0.0:0.8886:0.0:0.1114	.	1067	Q7Z3T8	ZFY16_HUMAN	V	1067	ENSP00000337159:L1067V;ENSP00000423663:L1067V;ENSP00000426848:L1067V	ENSP00000337159:L1067V	L	+	1	2	ZFYVE16	79781261	1.000000	0.71417	0.991000	0.47740	0.459000	0.32528	3.339000	0.52135	2.804000	0.96469	0.650000	0.86243	CTA		0.323	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		112	314	0	0	0	1	0	112	314				
C16orf74	404550	broad.mit.edu	37	16	85743833	85743833	+	Missense_Mutation	SNP	C	C	T	rs377716191		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:85743833C>T	ENST00000284245.4	-	3	292	c.109G>A	c.(109-111)Gac>Aac	p.D37N	C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602583.1_Missense_Mutation_p.D25N|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602719.1_Missense_Mutation_p.D37N	NM_206967.2	NP_996850.1	Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	37																	ATGATGATGTCGGGCACGTCC	0.662																																						ENST00000602583.1																			0											c.(73-75)Gac>Aac		chromosome 16 open reading frame 74							17.0	22.0	20.0					16																	85743833		2133	4236	6369	SO:0001583	missense	404550							g.chr16:85743833C>T	BC009078	CCDS45540.1	16q24.1	2014-05-28			ENSG00000154102	ENSG00000154102			23362	protein-coding gene	gene with protein product							Standard	NM_206967		Approved	MGC17624	uc002fjc.4	Q96GX8	OTTHUMG00000183875	ENST00000284245.4:c.109G>A	16.37:g.85743833C>T	ENSP00000284245:p.Asp37Asn					C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000284245.4_Missense_Mutation_p.D37N|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602719.1_Missense_Mutation_p.D37N|C16orf74_ENST00000602675.1_5'UTR	p.D25N			Q96GX8	CP074_HUMAN			1	623	-			37						Missense_Mutation	SNP	ENST00000284245.4	37	c.73G>A	CCDS45540.1	.	.	.	.	.	.	.	.	.	.	C	5.934	0.356442	0.11239	.	.	ENSG00000154102	ENST00000284245	.	.	.	4.85	-0.84	0.10755	.	0.448478	0.20948	N	0.082807	T	0.12220	0.0297	.	.	.	0.24242	N	0.995352	B	0.12630	0.006	B	0.06405	0.002	T	0.34725	-0.9817	8	0.02654	T	1	-27.196	8.0544	0.30596	0.0:0.3031:0.0:0.6969	.	37	Q96GX8	CP074_HUMAN	N	37	.	ENSP00000284245:D37N	D	-	1	0	C16orf74	84301334	0.980000	0.34600	0.996000	0.52242	0.986000	0.74619	-0.165000	0.09968	-0.129000	0.11620	0.561000	0.74099	GAC		0.662	C16orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467253.1	NM_206967		20	33	0	0	0	1	0	20	33				
MYO3A	53904	broad.mit.edu	37	10	26432452	26432452	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:26432452C>A	ENST00000265944.5	+	21	2504	c.2338C>A	c.(2338-2340)Ctg>Atg	p.L780M	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	780	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGATATGTTTCTGCAAAAGCC	0.383																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2338-2340)Ctg>Atg		myosin IIIA							140.0	137.0	138.0					10																	26432452		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26432452C>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2338C>A	10.37:g.26432452C>A	ENSP00000265944:p.Leu780Met					MYO3A_ENST00000543632.1_Intron	p.L780M	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			21	2504	+			780			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2338C>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159247	0.78226	.	.	ENSG00000095777	ENST00000265944	D	0.87179	-2.22	6.02	6.02	0.97574	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.91968	0.7456	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91867	0.5504	10	0.72032	D	0.01	.	11.775	0.51981	0.0:0.8651:0.0:0.1349	.	780	Q8NEV4	MYO3A_HUMAN	M	780	ENSP00000265944:L780M	ENSP00000265944:L780M	L	+	1	2	MYO3A	26472458	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.744000	0.47450	2.857000	0.98124	0.650000	0.86243	CTG		0.383	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		88	238	1	0	1.4597e-55	1	1.60471e-55	88	238				
FN1	2335	broad.mit.edu	37	2	216274779	216274779	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:216274779G>A	ENST00000359671.1	-	14	2265	c.2000C>T	c.(1999-2001)aCc>aTc	p.T667I	FN1_ENST00000345488.5_Missense_Mutation_p.T667I|FN1_ENST00000357867.4_Missense_Mutation_p.T667I|FN1_ENST00000446046.1_Missense_Mutation_p.T667I|FN1_ENST00000443816.1_Missense_Mutation_p.T667I|FN1_ENST00000356005.4_Missense_Mutation_p.T667I|FN1_ENST00000354785.4_Missense_Mutation_p.T667I|FN1_ENST00000323926.6_Missense_Mutation_p.T667I|FN1_ENST00000432072.2_Missense_Mutation_p.T667I|FN1_ENST00000336916.4_Missense_Mutation_p.T667I|FN1_ENST00000346544.3_Missense_Mutation_p.T667I|FN1_ENST00000357009.2_Missense_Mutation_p.T667I|FN1_ENST00000421182.1_Missense_Mutation_p.T667I			P02751	FINC_HUMAN	fibronectin 1	667	Fibronectin type-III 1.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GCCTTTGATGGTGTAGGAGTT	0.488																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1999-2001)aCc>aTc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						180.0	171.0	174.0					2																	216274779		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216274779G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2000C>T	2.37:g.216274779G>A	ENSP00000352696:p.Thr667Ile					FN1_ENST00000421182.1_Missense_Mutation_p.T667I|FN1_ENST00000359671.1_Missense_Mutation_p.T667I|FN1_ENST00000357867.4_Missense_Mutation_p.T667I|FN1_ENST00000357009.2_Missense_Mutation_p.T667I|FN1_ENST00000356005.4_Missense_Mutation_p.T667I|FN1_ENST00000346544.3_Missense_Mutation_p.T667I|FN1_ENST00000345488.5_Missense_Mutation_p.T667I|FN1_ENST00000336916.4_Missense_Mutation_p.T667I|FN1_ENST00000323926.6_Missense_Mutation_p.T667I|FN1_ENST00000446046.1_Missense_Mutation_p.T667I|FN1_ENST00000443816.1_Missense_Mutation_p.T667I|FN1_ENST00000432072.2_Missense_Mutation_p.T667I	p.T667I			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	14	2369	-		Renal(323;0.127)	667			Fibronectin type-III 1.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.2000C>T		.	.	.	.	.	.	.	.	.	.	G	21.7	4.187476	0.78789	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.65	2.88	0.33553	.	0.312951	0.30969	N	0.008503	T	0.67711	0.2922	L	0.55990	1.75	0.80722	D	1	D;D;P;P;P;D;D;P;P;D	0.89917	1.0;0.999;0.85;0.894;0.913;1.0;1.0;0.894;0.894;1.0	D;D;P;P;P;D;D;P;P;D	0.91635	0.999;0.995;0.521;0.701;0.711;0.989;0.999;0.701;0.701;0.999	T	0.65429	-0.6170	10	0.41790	T	0.15	.	10.4784	0.44678	0.2083:0.0:0.7917:0.0	.	667;667;667;667;667;667;667;667;667;667	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	I	667	ENSP00000394423:T667I;ENSP00000323534:T667I;ENSP00000338200:T667I;ENSP00000350534:T667I;ENSP00000346839:T667I;ENSP00000352696:T667I;ENSP00000265312:T667I;ENSP00000273049:T667I;ENSP00000349509:T667I;ENSP00000410422:T667I;ENSP00000415018:T667I;ENSP00000399538:T667I;ENSP00000348285:T667I	ENSP00000265313:T667I	T	-	2	0	FN1	215983024	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.754000	0.68743	0.870000	0.35726	0.655000	0.94253	ACC		0.488	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		107	103	0	0	0	1	0	107	103				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170029	20170029	+	RNA	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:20170029C>T	ENST00000338912.5	-	0	242									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		CCTGGAACTTCTGTGCATAGC	0.547																																						ENST00000338912.5																			0																				159.0	154.0	156.0					15																	20170029		2104	4233	6337			0							g.chr15:20170029C>T	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170029C>T														0	242	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.547	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			5	490	0	0	0	1	0	5	490				
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G	rs199515717		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:82784471A>G	ENST00000333891.9	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000423517.2_Missense_Mutation_p.S496P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S496P(6)|p.?(3)		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						GGCTTTGCTGAGCCAGGCTGT	0.607																																						ENST00000423517.2																			9	Substitution - Missense(6)|Unknown(3)	p.S496P(6)|p.?(3)	kidney(6)|prostate(3)	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.(1486-1488)Tca>Cca		piccolo presynaptic cytomatrix protein		A	PRO/SER,PRO/SER	0,3888		0,0,1944	89.0	98.0	95.0		1486,1486	-0.1	0.0	7		95	1,8267		0,1,4133	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	74,74	0,1,6077	GG,GA,AA		0.0121,0.0,0.0082	benign,benign	496/4936,496/5143	82784471	1,12155	1944	4134	6078	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.chr7:82784471A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1486T>C	7.37:g.82784471A>G	ENSP00000334319:p.Ser496Pro					PCLO_ENST00000333891.8_Missense_Mutation_p.S496P	p.S496P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	1823	-			442			10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1486T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	0.210	-1.037056	0.02013	0.0	1.21E-4	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.15372	2.43;2.44	4.64	-0.0778	0.13717	.	.	.	.	.	T	0.04679	0.0127	N	0.00538	-1.39	0.22066	N	0.999381	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37009	-0.9724	9	0.87932	D	0	.	7.1447	0.25577	0.2775:0.116:0.6065:0.0	.	496;496	Q9Y6V0-5;Q9Y6V0-6	.;.	P	496	ENSP00000334319:S496P;ENSP00000388393:S496P	ENSP00000334319:S496P	S	-	1	0	PCLO	82622407	0.659000	0.27411	0.005000	0.12908	0.207000	0.24258	2.928000	0.48908	0.094000	0.17404	-0.379000	0.06801	TCA		0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	567	0	0	0	1	0	12	567				
PCDHGA3	56112	broad.mit.edu	37	5	140725536	140725536	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:140725536G>A	ENST00000253812.6	+	1	1936	c.1936G>A	c.(1936-1938)Gtc>Atc	p.V646I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	646	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.			V -> I (in Ref. 1; AAD43717). {ECO:0000305}.	homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGGCCGTCCAGGACCA	0.711																																						ENST00000253812.6																			0				breast(1)	1						c.(1936-1938)Gtc>Atc									13.0	21.0	19.0					5																	140725536		2150	4266	6416	SO:0001583	missense	0							g.chr5:140725536G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1936G>A	5.37:g.140725536G>A	ENSP00000253812:p.Val646Ile					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.V646I	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1936	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1936G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	19.31	3.802551	0.70682	.	.	ENSG00000254245	ENST00000253812	T	0.61510	0.1	5.12	5.12	0.69794	Cadherin (4);Cadherin-like (1);	0.000000	0.30329	U	0.009862	T	0.69566	0.3125	M	0.85462	2.755	0.30617	N	0.75885	D;P	0.53619	0.961;0.861	P;P	0.51324	0.666;0.458	T	0.75789	-0.3194	10	0.72032	D	0.01	.	12.0577	0.53544	0.0807:0.0:0.9193:0.0	.	646;646	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	I	646	ENSP00000253812:V646I	ENSP00000253812:V646I	V	+	1	0	PCDHGA3	140705720	1.000000	0.71417	0.978000	0.43139	0.998000	0.95712	5.628000	0.67791	2.566000	0.86566	0.558000	0.71614	GTC		0.711	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		19	330	0	0	0	1	0	19	330				
PER3	8863	broad.mit.edu	37	1	7887612	7887612	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:7887612C>T	ENST00000361923.2	+	17	2774	c.2599C>T	c.(2599-2601)Cca>Tca	p.P867S	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.P875S	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	867	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	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;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGTTTTTGCCATGTCCATT	0.537																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2623-2625)Cca>Tca		period circadian clock 3							179.0	174.0	175.0					1																	7887612		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7887612C>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2599C>T	1.37:g.7887612C>T	ENSP00000355031:p.Pro867Ser					PER3_ENST00000361923.2_Missense_Mutation_p.P867S	p.P875S			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	17	2847	+	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)	867			Pro-rich.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.2623C>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234770	0.39498	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.13196	2.61;2.65	4.32	4.32	0.51571	.	0.845655	0.10846	N	0.627733	T	0.12178	0.0296	L	0.41573	1.285	0.09310	N	0.999997	P;P;P;P	0.46784	0.816;0.816;0.884;0.816	B;B;B;B	0.39152	0.152;0.152;0.292;0.152	T	0.13176	-1.0519	10	0.46703	T	0.11	.	9.4843	0.38919	0.0:0.892:0.0:0.108	.	867;875;875;867	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	S	875;867;78	ENSP00000366755:P875S;ENSP00000355031:P867S	ENSP00000355031:P867S	P	+	1	0	PER3	7810199	0.001000	0.12720	0.049000	0.19019	0.057000	0.15508	0.675000	0.25232	2.240000	0.73641	0.555000	0.69702	CCA		0.537	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		7	761	0	0	0	1	0	7	761				
ANKRD20A8P	729171	broad.mit.edu	37	2	95513820	95513820	+	RNA	SNP	C	C	T	rs376155492		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:95513820C>T	ENST00000432432.2	-	0	791				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATGTCTTGAGCGAAGACATCA	0.358																																						ENST00000432432.2																			0																																																			0							g.chr2:95513820C>T			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95513820C>T								NR_040113.1						0	791	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.358	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			12	1297	0	0	0	1	0	12	1297				
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs376870088		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196									tubulin, beta pseudogene 5									p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687																																						ENST00000503395.1																			1	Substitution - Missense(1)	p.R77H(1)	urinary_tract(1)																																																0							g.chr9:141070116G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070116G>A														0	1196	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.687	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		6	245	0	0	0	1	0	6	245				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	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			5	437	0	0	0	1	0	5	437				
NOP2	4839	broad.mit.edu	37	12	6672578	6672578	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:6672578G>A	ENST00000322166.5	-	8	912	c.791C>T	c.(790-792)tCt>tTt	p.S264F	NOP2_ENST00000542015.1_Intron|NOP2_ENST00000545200.1_Missense_Mutation_p.S260F|NOP2_ENST00000382421.3_Missense_Mutation_p.S297F|NOP2_ENST00000399466.2_Missense_Mutation_p.S260F|NOP2_ENST00000537442.1_Missense_Mutation_p.S264F|NOP2_ENST00000541778.1_Missense_Mutation_p.S260F	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	264					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CAGGTATTCAGAACGAGACCG	0.542											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000541778.1																			0				breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(778-780)tCt>tTt		NOP2 nucleolar protein							75.0	76.0	76.0					12																	6672578		1940	4143	6083	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6672578G>A		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.791C>T	12.37:g.6672578G>A	ENSP00000313272:p.Ser264Phe		OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635	NOP2_ENST00000537442.1_Missense_Mutation_p.S264F|NOP2_ENST00000545200.1_Missense_Mutation_p.S260F|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000399466.2_Missense_Mutation_p.S260F|NOP2_ENST00000322166.5_Missense_Mutation_p.S264F|NOP2_ENST00000382421.3_Missense_Mutation_p.S297F	p.S260F			P46087	NOP2_HUMAN			8	1267	-			264					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.779C>T	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005824	0.54254	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944	T;T;T;T;T;T;T	0.48201	2.4;2.42;2.43;2.4;2.4;2.4;0.82	5.19	5.19	0.71726	.	1.209700	0.05601	N	0.576322	T	0.66247	0.2770	M	0.84082	2.675	0.20563	N	0.999886	P	0.41131	0.739	P	0.49276	0.605	T	0.56463	-0.7975	10	0.66056	D	0.02	-1.1433	11.9695	0.53055	0.0:0.0:0.7038:0.2962	.	260	P46087-2	.	F	264;297;260;260;264;260;140	ENSP00000444437:S264F;ENSP00000371858:S297F;ENSP00000439422:S260F;ENSP00000382392:S260F;ENSP00000313272:S264F;ENSP00000443150:S260F;ENSP00000440754:S140F	ENSP00000313272:S264F	S	-	2	0	NOP2	6542839	0.016000	0.18221	0.035000	0.18076	0.993000	0.82548	1.893000	0.39758	2.436000	0.82500	0.561000	0.74099	TCT		0.542	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		24	33	0	0	0	1	0	24	33				
CR1	1378	broad.mit.edu	37	1	207749012	207749012	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:207749012G>A	ENST00000367049.4	+	28	4524	c.4524G>A	c.(4522-4524)ccG>ccA	p.P1508P	CR1_ENST00000367051.1_Silent_p.P1058P|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Silent_p.P1058P|CR1_ENST00000367053.1_Silent_p.P1058P|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Silent_p.P1058P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1058	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCACGAAGCCGCCAATTTGTC	0.448																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(4522-4524)ccG>ccA		complement component (3b/4b) receptor 1 (Knops blood group)							291.0	281.0	284.0					1																	207749012		1899	4129	6028	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207749012G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4524G>A	1.37:g.207749012G>A						CR1_ENST00000400960.2_Silent_p.P1058P|CR1_ENST00000367051.1_Silent_p.P1058P|CR1_ENST00000367052.1_Silent_p.P1058P|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Silent_p.P1058P|RP11-78B10.2_ENST00000596003.1_RNA	p.P1508P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			28	4524	+			1058			Sushi 23.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.4524G>A	CCDS44308.1																																																																																				0.448	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		6	963	0	0	0	1	0	6	963				
GPR171	29909	broad.mit.edu	37	3	150916417	150916417	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:150916417C>T	ENST00000309180.5	-	3	987	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	253					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAGTTATGACTTCTGTCTGG	0.458																																						ENST00000309180.5																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15						c.(757-759)Gtc>Atc		G protein-coupled receptor 171							112.0	110.0	110.0					3																	150916417		2203	4300	6503	SO:0001583	missense	29909					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:150916417C>T	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.757G>A	3.37:g.150916417C>T	ENSP00000308479:p.Val253Ile					MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	p.V253I	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	987	-			253					D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	c.757G>A	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016594	0.35606	.	.	ENSG00000174946	ENST00000309180	T	0.20738	2.05	5.61	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.245951	0.32028	N	0.006693	T	0.12944	0.0314	L	0.33485	1.01	0.31077	N	0.712308	B	0.10296	0.003	B	0.13407	0.009	T	0.22730	-1.0208	10	0.19147	T	0.46	-10.4765	6.008	0.19557	0.2855:0.5747:0.0:0.1398	.	253	O14626	GP171_HUMAN	I	253	ENSP00000308479:V253I	ENSP00000308479:V253I	V	-	1	0	GPR171	152399107	0.035000	0.19736	0.207000	0.23584	0.987000	0.75469	0.419000	0.21247	0.241000	0.21283	0.650000	0.86243	GTC		0.458	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		4	241	0	0	0	1	0	4	241				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	125	1	0	0.184627	1	0.185746	5	125				
TPPP3	51673	broad.mit.edu	37	16	67424140	67424140	+	Silent	SNP	G	G	A	rs137924465	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:67424140G>A	ENST00000564104.1	-	3	1309	c.468C>T	c.(466-468)gaC>gaT	p.D156D	TPPP3_ENST00000393957.2_Silent_p.D156D|TPPP3_ENST00000290942.5_Silent_p.D156D|RNU1-123P_ENST00000458950.1_RNA|TPPP3_ENST00000562206.1_Silent_p.D156D			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	156					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		AGCCACTGTCGTCCAGGATGT	0.627													g|||	2	0.000399361	0.0015	0.0	5008	,	,		19622	0.0		0.0	False		,,,				2504	0.0					ENST00000564104.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7						c.(466-468)gaC>gaT		tubulin polymerization-promoting protein family member 3			,	4,4392	8.1+/-20.4	0,4,2194	124.0	97.0	106.0		468,468	0.5	1.0	16	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TPPP3	NM_015964.2,NM_016140.2	,	0,5,6493	AA,AG,GG		0.0116,0.091,0.0385	,	156/177,156/177	67424140	5,12991	2198	4300	6498	SO:0001819	synonymous_variant	51673				microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding	g.chr16:67424140G>A	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.468C>T	16.37:g.67424140G>A						TPPP3_ENST00000562206.1_Silent_p.D156D|TPPP3_ENST00000290942.5_Silent_p.D156D|TPPP3_ENST00000393957.2_Silent_p.D156D	p.D156D			Q9BW30	TPPP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	3	1309	-		Ovarian(137;0.0563)	156					Q49AH9|Q9Y326|Q9Y6H0	Silent	SNP	ENST00000564104.1	37	c.468C>T	CCDS10835.1																																																																																				0.627	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964		90	223	0	0	0	1	0	90	223				
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										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)					AGGACTCCCTGTCTCCTCACT	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.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229.0	245.0	240.0					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	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.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		9	1439	0	0	0	1	0	9	1439				
NR2F1	7025	broad.mit.edu	37	5	92924048	92924048	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:92924048G>A	ENST00000327111.3	+	2	2576	c.889G>A	c.(889-891)Gac>Aac	p.D297N	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	297					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GGCCTTCATGGACCACATCCG	0.657																																						ENST00000327111.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(889-891)Gac>Aac		nuclear receptor subfamily 2, group F, member 1							40.0	40.0	40.0					5																	92924048		2202	4300	6502	SO:0001583	missense	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92924048G>A	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.889G>A	5.37:g.92924048G>A	ENSP00000325819:p.Asp297Asn						p.D297N	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	2	2576	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	297						Missense_Mutation	SNP	ENST00000327111.3	37	c.889G>A	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521082	0.96416	.	.	ENSG00000175745	ENST00000327111	D	0.96967	-4.19	4.3	4.3	0.51218	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.170267	0.49305	D	0.000157	D	0.97486	0.9177	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98117	1.0423	10	0.62326	D	0.03	.	16.543	0.84407	0.0:0.0:1.0:0.0	.	297	P10589	COT1_HUMAN	N	297	ENSP00000325819:D297N	ENSP00000325819:D297N	D	+	1	0	NR2F1	92949804	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.535000	0.98064	2.205000	0.71048	0.313000	0.20887	GAC		0.657	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		48	252	0	0	0	1	0	48	252				
DCAF12L1	139170	broad.mit.edu	37	X	125686253	125686253	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:125686253G>A	ENST00000371126.1	-	1	581	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	113										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ACTTGGTGCCGCACACCACCT	0.637																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(337-339)tgC>tgT		DDB1 and CUL4 associated factor 12-like 1							112.0	85.0	94.0					X																	125686253		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125686253G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.339C>T	X.37:g.125686253G>A							p.C113C	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	581	-			113					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.339C>T	CCDS14610.1																																																																																				0.637	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		5	291	0	0	0	1	0	5	291				
PLEKHH3	79990	broad.mit.edu	37	17	40825305	40825305	+	Missense_Mutation	SNP	C	C	T	rs139853357		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:40825305C>T	ENST00000591022.1	-	6	1045	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	PLEKHH3_ENST00000293349.6_Missense_Mutation_p.G220R|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.G220R|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	220					signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TCTGGGTCCCCGCAACTTTCC	0.597																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(658-660)Ggg>Agg		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3		C	ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	64.0	69.0	67.0		658	2.4	0.2	17	dbSNP_134	67	0,8600		0,0,4300	yes	missense	PLEKHH3	NM_024927.4	125	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	220/794	40825305	2,13004	2203	4300	6503	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40825305C>T	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.658G>A	17.37:g.40825305C>T	ENSP00000468678:p.Gly220Arg					PLEKHH3_ENST00000412503.1_Missense_Mutation_p.G220R|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.G220R|PLEKHH3_ENST00000456950.2_5'UTR	p.G220R			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	6	1088	-		Breast(137;0.00116)	220					C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.658G>A	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186768	0.38609	4.54E-4	0.0	ENSG00000068137	ENST00000293349;ENST00000412503	T;T	0.45276	0.9;0.9	5.55	2.39	0.29439	.	0.526619	0.17507	N	0.171775	T	0.19485	0.0468	N	0.14661	0.345	0.09310	N	1	B;B	0.30741	0.143;0.293	B;B	0.15484	0.013;0.01	T	0.13202	-1.0518	10	0.22706	T	0.39	-25.3623	6.8604	0.24064	0.0:0.4169:0.428:0.155	.	220;220	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	R	220	ENSP00000293349:G220R;ENSP00000411885:G220R	ENSP00000293349:G220R	G	-	1	0	PLEKHH3	38078831	0.000000	0.05858	0.202000	0.23494	0.954000	0.61252	0.178000	0.16820	0.415000	0.25817	0.655000	0.94253	GGG		0.597	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		96	137	0	0	0	1	0	96	137				
OSBPL1A	114876	broad.mit.edu	37	18	21894274	21894274	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21894274C>T	ENST00000319481.3	-	12	1114	c.908G>A	c.(907-909)tGc>tAc	p.C303Y	OSBPL1A_ENST00000357041.4_5'Flank	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	303	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GTCATCAAAGCATTTAATAAA	0.363																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(907-909)tGc>tAc		oxysterol binding protein-like 1A							102.0	102.0	102.0					18																	21894274		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21894274C>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.908G>A	18.37:g.21894274C>T	ENSP00000320291:p.Cys303Tyr						p.C303Y	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			12	1114	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		303			PH.		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.908G>A	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328865	0.81690	.	.	ENSG00000141447	ENST00000319481	T	0.43688	0.94	5.7	5.7	0.88788	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.65260	0.2674	M	0.68593	2.085	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.83275	0.996;0.986	T	0.62676	-0.6804	10	0.45353	T	0.12	-16.9032	19.8161	0.96568	0.0:1.0:0.0:0.0	.	303;303	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	Y	303	ENSP00000320291:C303Y	ENSP00000320291:C303Y	C	-	2	0	OSBPL1A	20148272	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.709000	0.74665	2.680000	0.91292	0.585000	0.79938	TGC		0.363	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		65	305	0	0	0	1	0	65	305				
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	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		6	288	0	0	0	1	0	6	288				
TTN	7273	broad.mit.edu	37	2	179438185	179438185	+	Missense_Mutation	SNP	G	G	A	rs55992239		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:179438185G>A	ENST00000591111.1	-	276	67975	c.67751C>T	c.(67750-67752)cCg>cTg	p.P22584L	TTN_ENST00000589042.1_Missense_Mutation_p.P24225L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15285L|TTN_ENST00000342175.6_Missense_Mutation_p.P15352L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21657L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15160L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22584	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.		P -> L. {ECO:0000269|PubMed:17344846}.		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)			GTTTTTGGGCGGATCAGGGGG	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		19723	0.0		0.0	False		,,,				2504	0.001					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.(72673-72675)cCg>cTg		titin		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,3808		0,0,1904	99.0	99.0	99.0		45479,64970,45854,46055	6.1	1.0	2	dbSNP_129	99	3,8251		0,3,4124	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	98,98,98,98	0,3,6028	AA,AG,GG		0.0363,0.0,0.0249	probably-damaging,probably-damaging,probably-damaging,probably-damaging	15160/26927,21657/33424,15285/27052,15352/27119	179438185	3,12059	1904	4127	6031	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438185G>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.67751C>T	2.37:g.179438185G>A	ENSP00000465570:p.Pro22584Leu					TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21657L|TTN_ENST00000342175.6_Missense_Mutation_p.P15352L|TTN_ENST00000359218.5_Missense_Mutation_p.P15285L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P22584L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15160L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.P24225L	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)		326	72898	-			22584			Ig-like 121.		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.72674C>T		.	.	.	.	.	.	.	.	.	.	G	15.34	2.804563	0.50315	0.0	3.63E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	6.08	6.08	0.98989	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84656	0.5520	H	0.95402	3.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.87855	0.2660	9	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	rs55992239	15160;15285;15352;22584	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	21657;15160;15352;15285;15158	ENSP00000343764:P21657L;ENSP00000434586:P15160L;ENSP00000340554:P15352L;ENSP00000352154:P15285L	ENSP00000340554:P15352L	P	-	2	0	TTN	179146431	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	2.894000	0.99253	0.655000	0.94253	CCG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	472	0	0	0	1	0	5	472				
TUBA1B	10376	broad.mit.edu	37	12	49523505	49523505	+	Splice_Site	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:49523505G>A	ENST00000336023.5	-	2	98	c.4C>T	c.(4-6)Cgt>Tgt	p.R2C	RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	2					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						ATGCACTCACGCTGCGGGAAG	0.468																																						ENST00000336023.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						c.e2-1		tubulin, alpha 1b							51.0	49.0	49.0					12																	49523505		2203	4300	6503	SO:0001630	splice_region_variant	10376				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	g.chr12:49523505G>A	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.4-1C>T	12.37:g.49523505G>A						RP11-386G11.10_ENST00000547387.1_RNA	p.R2_splice	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN			2	98	-			2					P04687|P05209|Q27I68|Q8WU19	Splice_Site	SNP	ENST00000336023.5	37	c.3_splice	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	g	16.25	3.071607	0.55646	.	.	ENSG00000123416	ENST00000336023;ENST00000551373;ENST00000429203;ENST00000550367	T;T	0.71698	-0.59;-0.59	4.85	4.85	0.62838	Tubulin/FtsZ, GTPase domain (2);	0.000000	0.47455	U	0.000228	D	0.86543	0.5958	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89528	0.3783	10	0.87932	D	0	.	16.7309	0.85434	0.0:0.0:1.0:0.0	.	2	P68363	TBA1B_HUMAN	C	2	ENSP00000336799:R2C;ENSP00000449325:R2C	ENSP00000336799:R2C	R	-	1	0	TUBA1B	47809772	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.776000	0.99001	2.235000	0.73313	0.655000	0.94253	CGT		0.468	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082	Missense_Mutation	65	86	0	0	0	1	0	65	86				
SIGLEC7	27036	broad.mit.edu	37	19	51647834	51647834	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:51647834T>C	ENST00000317643.6	+	2	674	c.605T>C	c.(604-606)cTc>cCc	p.L202P	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	202	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TCCTCAGTGCTCACCCTCATC	0.657																																						ENST00000317643.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29						c.(604-606)cTc>cCc		sialic acid binding Ig-like lectin 7							63.0	62.0	62.0					19																	51647834		2203	4300	6503	SO:0001583	missense	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51647834T>C	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.605T>C	19.37:g.51647834T>C	ENSP00000323328:p.Leu202Pro					SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	p.L202P	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	2	674	+		all_neural(266;0.0199)	202			Ig-like C2-type 1.		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	ENST00000317643.6	37	c.605T>C	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	14.00	2.404089	0.42613	.	.	ENSG00000168995	ENST00000317643	T	0.09630	2.96	2.9	2.9	0.33743	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35555	N	0.003139	T	0.34600	0.0903	M	0.90483	3.12	0.43662	D	0.996083	D	0.89917	1.0	D	0.97110	1.0	T	0.16335	-1.0406	10	0.66056	D	0.02	.	7.6424	0.28300	0.0:0.0:0.0:1.0	.	202	Q9Y286	SIGL7_HUMAN	P	202	ENSP00000323328:L202P	ENSP00000323328:L202P	L	+	2	0	SIGLEC7	56339646	0.058000	0.20735	0.647000	0.29507	0.017000	0.09413	3.019000	0.49635	1.360000	0.45960	0.432000	0.28606	CTC		0.657	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		5	359	0	0	0	1	0	5	359				
PCDHA8	56140	broad.mit.edu	37	5	140222650	140222650	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:140222650C>T	ENST00000531613.1	+	1	1744	c.1744C>T	c.(1744-1746)Ccg>Tcg	p.P582S	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P582S|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCTGGTGCCGCGGTCTGT	0.682																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1744-1746)Ccg>Tcg									54.0	58.0	56.0					5																	140222650		2195	4260	6455	SO:0001583	missense	0							g.chr5:140222650C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1744C>T	5.37:g.140222650C>T	ENSP00000434655:p.Pro582Ser					PCDHA8_ENST00000378123.3_Missense_Mutation_p.P582S|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.P582S	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1744	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1744C>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336787	0.24253	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.20463	2.07;2.07	3.5	-7.0	0.01599	Cadherin (2);Cadherin-like (1);	0.842667	0.09628	N	0.776582	T	0.09598	0.0236	N	0.16233	0.39	0.09310	N	1	B;B	0.21071	0.051;0.041	B;B	0.16722	0.016;0.009	T	0.28490	-1.0042	10	0.28530	T	0.3	.	7.616	0.28158	0.0:0.4823:0.2798:0.2379	.	582;582	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	S	582	ENSP00000434655:P582S;ENSP00000367363:P582S	ENSP00000367363:P582S	P	+	1	0	PCDHA8	140202834	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.284000	0.18864	-2.061000	0.00892	0.306000	0.20318	CCG		0.682	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		5	341	0	0	0	1	0	5	341				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	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_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_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_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_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	112	0	0	0	1	0	5	112				
RPAP1	26015	broad.mit.edu	37	15	41813192	41813192	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:41813192C>T	ENST00000304330.4	-	22	3308	c.3192G>A	c.(3190-3192)tcG>tcA	p.S1064S	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1064	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTCGGGCTGGCGAGCAATGAG	0.662																																						ENST00000304330.4																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(3190-3192)tcG>tcA		RNA polymerase II associated protein 1							50.0	47.0	48.0					15																	41813192		2202	4298	6500	SO:0001819	synonymous_variant	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41813192C>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3192G>A	15.37:g.41813192C>T						RPAP1_ENST00000561603.1_Intron	p.S1064S	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	22	3308	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1064			Leu-rich.		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	ENST00000304330.4	37	c.3192G>A	CCDS10079.1																																																																																				0.662	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		60	177	0	0	0	1	0	60	177				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	0							g.chr20:29633900A>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.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	150	0	0	0	1	0	6	150				
SOX11	6664	broad.mit.edu	37	2	5833606	5833606	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:5833606G>A	ENST00000322002.3	+	1	808	c.753G>A	c.(751-753)ccG>ccA	p.P251P	AC108025.2_ENST00000453678.1_RNA|AC010729.1_ENST00000455579.2_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	251					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGGAACCACCGCACCAGCAGC	0.657																																						ENST00000322002.3																			0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(751-753)ccG>ccA		SRY (sex determining region Y)-box 11							11.0	10.0	10.0					2																	5833606		2070	4101	6171	SO:0001819	synonymous_variant	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833606G>A		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.753G>A	2.37:g.5833606G>A							p.P251P	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	808	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		251					Q4ZFV8	Silent	SNP	ENST00000322002.3	37	c.753G>A	CCDS1654.1																																																																																				0.657	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		10	28	0	0	0	1	0	10	28				
C1orf101	257044	broad.mit.edu	37	1	244724041	244724041	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:244724041G>A	ENST00000366534.4	+	10	1155	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K	C1orf101_ENST00000366533.4_Silent_p.K367K|C1orf101_ENST00000366531.3_Silent_p.K216K|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	367						CatSper complex (GO:0036128)		p.K367N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TTCTTCTTAAGTTTGCCAGAT	0.408																																						ENST00000366534.4																			1	Substitution - Missense(1)	p.K367N(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(1099-1101)aaG>aaA		chromosome 1 open reading frame 101							95.0	97.0	96.0					1																	244724041		2203	4300	6503	SO:0001819	synonymous_variant	257044					integral to membrane		g.chr1:244724041G>A	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1101G>A	1.37:g.244724041G>A						C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Silent_p.K216K|C1orf101_ENST00000366533.4_Silent_p.K367K	p.K367K	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		10	1155	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		367					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	ENST00000366534.4	37	c.1101G>A	CCDS44340.1																																																																																				0.408	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		11	386	0	0	0	1	0	11	386				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			0							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G														0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		5	601	0	0	0	1	0	5	601				
CCNO	10309	broad.mit.edu	37	5	54527370	54527370	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:54527370G>A	ENST00000282572.4	-	3	1042	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	296					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cell cycle (GO:0007049)|cell division (GO:0051301)|cilium assembly (GO:0042384)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)|embryo development (GO:0009790)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	uracil DNA N-glycosylase activity (GO:0004844)			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			CGCGAGACCCGCAGCATGCGG	0.667																																						ENST00000282572.4																			0				endometrium(1)|lung(3)|skin(1)	5						c.(886-888)Cgg>Tgg		cyclin O							34.0	36.0	35.0					5																	54527370		2203	4299	6502	SO:0001583	missense	10309				cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity	g.chr5:54527370G>A	M87499	CCDS34157.1	5q11.2	2010-11-15	2007-07-26	2007-07-26	ENSG00000152669	ENSG00000152669			18576	protein-coding gene	gene with protein product		607752	"""cyclin U"""	CCNU			Standard	NR_125346		Approved	UDG2, FLJ22422, UNG2	uc003jpw.3	P22674	OTTHUMG00000162598	ENST00000282572.4:c.886C>T	5.37:g.54527370G>A	ENSP00000282572:p.Arg296Trp						p.R296W	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)		3	1042	-		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	296					A8K1W5|Q0P6J2|Q9H6B0|Q9UMD5	Missense_Mutation	SNP	ENST00000282572.4	37	c.886C>T	CCDS34157.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540955	0.45280	.	.	ENSG00000152669	ENST00000282572	T	0.44881	0.91	5.61	-1.39	0.08997	Cyclin, C-terminal (1);Cyclin-like (3);	1.557100	0.03904	N	0.280760	T	0.30823	0.0777	N	0.14661	0.345	0.09310	N	1	D	0.58620	0.983	P	0.47376	0.545	T	0.28004	-1.0057	10	0.72032	D	0.01	.	5.1563	0.15036	0.0643:0.1857:0.3444:0.4056	.	296	P22674	CCNO_HUMAN	W	296	ENSP00000282572:R296W	ENSP00000282572:R296W	R	-	1	2	CCNO	54563127	0.030000	0.19436	0.006000	0.13384	0.430000	0.31655	0.723000	0.25939	0.006000	0.14734	-0.500000	0.04577	CGG		0.667	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369707.1	NM_021147		47	126	0	0	0	1	0	47	126				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		26	353	0	0	0	1	0	26	353				
SMAD4	4089	broad.mit.edu	37	18	48575209	48575209	+	Nonsense_Mutation	SNP	C	C	T	rs377767326		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:48575209C>T	ENST00000342988.3	+	3	941	c.403C>T	c.(403-405)Cga>Tga	p.R135*	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.R135*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.R135*|SMAD4_ENST00000452201.2_Nonsense_Mutation_p.R135*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	135	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R135*(4)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCACTACGAACGAGTTGTATC	0.328																																						ENST00000342988.3																			44	Whole gene deletion(36)|Substitution - Nonsense(4)|Unknown(4)	p.0?(36)|p.R135*(4)|p.?(4)	pancreas(27)|large_intestine(4)|stomach(3)|breast(3)|upper_aerodigestive_tract(2)|lung(2)|gastrointestinal_tract_(site_indeterminate)(1)|oesophagus(1)|NS(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CM064283	SMAD4	M		c.(403-405)Cga>Tga		SMAD family member 4							128.0	115.0	119.0					18																	48575209		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48575209C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.403C>T	18.37:g.48575209C>T	ENSP00000341551:p.Arg135*					SMAD4_ENST00000452201.2_Nonsense_Mutation_p.R135*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.R135*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.R135*	p.R135*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	3	941	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	135			MH1.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.403C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	42	9.183954	0.99092	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.48	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5925	0.68378	0.1465:0.8535:0.0:0.0	.	.	.	.	X	135	.	ENSP00000341551:R135X	R	+	1	2	SMAD4	46829207	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.732000	0.26072	2.540000	0.85666	0.585000	0.79938	CGA		0.328	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		9	120	0	0	0	1	0	9	120				
MGAT2	4247	broad.mit.edu	37	14	50088597	50088597	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:50088597C>T	ENST00000305386.2	+	1	1109	c.611C>T	c.(610-612)gCc>gTc	p.A204V	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	204					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					CCGAAGAATGCCGCTTTGAAA	0.502																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(610-612)gCc>gTc		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							110.0	108.0	109.0					14																	50088597		2203	4300	6503	SO:0001583	missense	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088597C>T	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.611C>T	14.37:g.50088597C>T	ENSP00000307423:p.Ala204Val					RP11-649E7.5_ENST00000555043.1_RNA	p.A204V	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	1109	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		204					B3KPC5|B3KQM0	Missense_Mutation	SNP	ENST00000305386.2	37	c.611C>T	CCDS9690.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111448	0.37242	.	.	ENSG00000168282	ENST00000305386;ENST00000504161	D	0.88586	-2.4	6.0	4.05	0.47172	.	0.297229	0.35772	N	0.002990	D	0.84151	0.5409	L	0.36672	1.1	0.32186	N	0.57978	B	0.20164	0.042	B	0.28305	0.088	T	0.82491	-0.0431	10	0.30078	T	0.28	-7.4052	13.5965	0.61994	0.3978:0.6022:0.0:0.0	.	204	Q10469	MGAT2_HUMAN	V	204;210	ENSP00000307423:A204V	ENSP00000307423:A204V	A	+	2	0	MGAT2	49158347	0.998000	0.40836	0.994000	0.49952	0.897000	0.52465	3.624000	0.54231	1.520000	0.48965	0.555000	0.69702	GCC		0.502	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		6	461	0	0	0	1	0	6	461				
MAPK15	225689	broad.mit.edu	37	8	144804265	144804265	+	Silent	SNP	G	G	A	rs369868387	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:144804265G>A	ENST00000338033.4	+	14	1598	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	493					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGCTTCCTCCGGAGGCCCGGC	0.652													g|||	2	0.000399361	0.0	0.0	5008	,	,		11717	0.0		0.0	False		,,,				2504	0.002					ENST00000338033.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12						c.(1477-1479)ccG>ccA		mitogen-activated protein kinase 15		G		1,3737		0,1,1868	57.0	65.0	63.0		1479	-0.7	0.0	8		63	1,8163		0,1,4081	no	coding-synonymous	MAPK15	NM_139021.2		0,2,5949	AA,AG,GG		0.0122,0.0268,0.0168		493/545	144804265	2,11900	1869	4082	5951	SO:0001819	synonymous_variant	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144804265G>A	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1479G>A	8.37:g.144804265G>A							p.P493P	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		14	1598	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		493					Q2TCF9|Q8N362	Silent	SNP	ENST00000338033.4	37	c.1479G>A	CCDS6409.2																																																																																				0.652	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		141	298	0	0	0	1	0	141	298				
MCM5	4174	broad.mit.edu	37	22	35796511	35796511	+	Missense_Mutation	SNP	G	G	A	rs367630495		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr22:35796511G>A	ENST00000216122.4	+	2	234	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MCM5_ENST00000382011.5_Missense_Mutation_p.R27H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	27					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGGCAGGCCCGCAAATCGCAG	0.647																																						ENST00000216122.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(79-81)cGc>cAc		minichromosome maintenance complex component 5							37.0	42.0	40.0					22																	35796511		2203	4299	6502	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35796511G>A		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.80G>A	22.37:g.35796511G>A	ENSP00000216122:p.Arg27His					MCM5_ENST00000382011.5_Missense_Mutation_p.R27H|CTA-286B10.7_ENST00000417343.1_RNA	p.R27H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN			2	234	+			27					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.80G>A	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874705	0.72180	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000416905	T;T;T	0.31247	4.19;3.84;1.5	5.08	5.08	0.68730	.	0.420814	0.26563	N	0.023669	T	0.14787	0.0357	N	0.03608	-0.345	0.41628	D	0.989009	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.07195	-1.0785	10	0.41790	T	0.15	-21.2565	11.5797	0.50883	0.0832:0.0:0.9168:0.0	.	27;27	B1AHB1;P33992	.;MCM5_HUMAN	H	27	ENSP00000216122:R27H;ENSP00000371441:R27H;ENSP00000393977:R27H	ENSP00000216122:R27H	R	+	2	0	MCM5	34126511	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.291000	0.72719	2.342000	0.79632	0.455000	0.32223	CGC		0.647	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			5	281	0	0	0	1	0	5	281				
DLG3	1741	broad.mit.edu	37	X	69713266	69713266	+	Intron	SNP	G	G	A	rs181757438		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:69713266G>A	ENST00000374360.3	+	12	2006				DLG3_ENST00000542398.1_Missense_Mutation_p.R122Q|DLG3_ENST00000194900.4_Intron|DLG3_ENST00000374355.3_Missense_Mutation_p.R268Q	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)						axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CGCCTCTCTCGAAAGTTTCCA	0.448																																						ENST00000374355.3																			0				endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22						c.(802-804)cGa>cAa		discs, large homolog 3 (Drosophila)							60.0	51.0	54.0					X																	69713266		1985	4147	6132	SO:0001627	intron_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69713266G>A	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1773+820G>A	X.37:g.69713266G>A						DLG3_ENST00000194900.4_Intron|DLG3_ENST00000542398.1_Missense_Mutation_p.R122Q|DLG3_ENST00000374360.3_Intron	p.R268Q	NM_020730.2	NP_065781.1	Q92796	DLG3_HUMAN			7	1120	+	Renal(35;0.156)		592			PDZ 2.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	c.803G>A	CCDS14403.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.94	2.980848	0.53827	.	.	ENSG00000082458	ENST00000374355;ENST00000542398	T;T	0.17854	2.25;2.99	4.79	3.92	0.45320	.	.	.	.	.	T	0.11836	0.0288	.	.	.	0.26602	N	0.972998	B;B	0.16166	0.016;0.016	B;B	0.10450	0.004;0.005	T	0.25710	-1.0124	7	.	.	.	.	11.3159	0.49392	0.0898:0.0:0.9102:0.0	.	122;268	B4E0H1;Q5JUW6	.;.	Q	268;122	ENSP00000363475:R268Q;ENSP00000441393:R122Q	.	R	+	2	0	DLG3	69629991	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.184000	0.94893	1.015000	0.39444	-0.192000	0.12808	CGA		0.448	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		40	99	0	0	0	1	0	40	99				
MAGEC1	9947	broad.mit.edu	37	X	140995016	140995016	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:140995016T>A	ENST00000285879.4	+	4	2112	c.1826T>A	c.(1825-1827)cTc>cAc	p.L609H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	609										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)					ATGTCTCCTCTCTACTTTCCT	0.572										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.(1825-1827)cTc>cAc		melanoma antigen family C, 1							193.0	205.0	201.0					X																	140995016		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995016T>A	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.1826T>A	X.37:g.140995016T>A	ENSP00000285879:p.Leu609His	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L609H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2112	+	Acute lymphoblastic leukemia(192;6.56e-05)		609					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1826T>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	0.021	-1.420247	0.01136	.	.	ENSG00000155495	ENST00000285879	T	0.02280	4.36	0.96	-1.92	0.07618	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.18873	N	0.999981	B	0.13594	0.008	B	0.12156	0.007	T	0.44651	-0.9314	9	0.41790	T	0.15	.	3.46	0.07529	0.6118:0.1904:0.0:0.1978	.	609	O60732	MAGC1_HUMAN	H	609	ENSP00000285879:L609H	ENSP00000285879:L609H	L	+	2	0	MAGEC1	140822682	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.882000	0.00714	-3.326000	0.00186	-3.493000	0.00034	CTC		0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		9	1208	0	0	0	1	0	9	1208				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	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.S168S(5)		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)		tgctgctgctgctactgctgc	0.537			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		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(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.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>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.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S168S	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	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		8	115	0	0	0	1	0	8	115				
SLC12A9	56996	broad.mit.edu	37	7	100463601	100463601	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:100463601C>T	ENST00000354161.3	+	14	2244	c.2119C>T	c.(2119-2121)Ccc>Tcc	p.P707S	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	707					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGGGGCCTTGCCCCCTGAGCG	0.711																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(2119-2121)Ccc>Tcc		solute carrier family 12, member 9							39.0	51.0	47.0					7																	100463601		2186	4270	6456	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100463601C>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.2119C>T	7.37:g.100463601C>T	ENSP00000275730:p.Pro707Ser						p.P707S	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			14	2244	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		707					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.2119C>T	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394309	0.42410	.	.	ENSG00000146828	ENST00000354161;ENST00000539308	D	0.90504	-2.68	5.44	5.44	0.79542	.	0.153325	0.42420	D	0.000713	D	0.86569	0.5964	L	0.38838	1.175	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.81514	-0.0898	10	0.32370	T	0.25	.	16.7553	0.85498	0.0:1.0:0.0:0.0	.	707	Q9BXP2	S12A9_HUMAN	S	707;333	ENSP00000275730:P707S	ENSP00000275730:P707S	P	+	1	0	SLC12A9	100301537	0.942000	0.31987	1.000000	0.80357	0.717000	0.41224	2.321000	0.43805	2.564000	0.86499	0.555000	0.69702	CCC		0.711	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		5	439	0	0	0	1	0	5	439				
RANBP2	5903	broad.mit.edu	37	2	109367844	109367844	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:109367844T>G	ENST00000283195.6	+	10	1524	c.1398T>G	c.(1396-1398)caT>caG	p.H466Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	466					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.H466Q(6)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTTGCCCCATGAAACCTCAA	0.358																																						ENST00000283195.6																		RANBP2/ALK(34)	6	Substitution - Missense(6)	p.H466Q(6)	endometrium(6)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1396-1398)caT>caG		RAN binding protein 2							69.0	78.0	75.0					2																	109367844		1510	2703	4213	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109367844T>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1398T>G	2.37:g.109367844T>G	ENSP00000283195:p.His466Gln						p.H466Q	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			10	1524	+			466					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1398T>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	2.180	-0.387877	0.04932	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.82526	-1.62	5.25	2.44	0.29823	.	.	.	.	.	T	0.43545	0.1252	N	0.00197	-1.87	0.20563	N	0.999888	B	0.02656	0.0	B	0.01281	0.0	T	0.50039	-0.8874	9	0.02654	T	1	-0.0972	5.4961	0.16804	0.3195:0.0:0.5396:0.1409	.	466	P49792	RBP2_HUMAN	Q	466	ENSP00000283195:H466Q	ENSP00000283195:H466Q	H	+	3	2	RANBP2	108734276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.307000	0.43682	0.319000	0.23209	-0.127000	0.14921	CAT		0.358	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	1089	0	0	0	1	0	7	1089				
KRTAP5-4	387267	broad.mit.edu	37	11	1642976	1642976	+	Silent	SNP	A	A	G	rs569029116	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:1642976A>G	ENST00000399682.1	-	1	392	c.348T>C	c.(346-348)ggT>ggC	p.G116G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G116G(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAACCCCCACAGG	0.662													a|||	5	0.000998403	0.0023	0.0	5008	,	,		10207	0.002		0.0	False		,,,				2504	0.0					ENST00000399682.1																			3	Substitution - coding silent(3)	p.G116G(3)	endometrium(2)|prostate(1)	NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(346-348)ggT>ggC		keratin associated protein 5-4							10.0	20.0	17.0					11																	1642976		677	1565	2242	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1642976A>G	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.348T>C	11.37:g.1642976A>G							p.G116G	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	392	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	116			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.348T>C																																																																																					0.662	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		13	277	0	0	0	1	0	13	277				
VWA3B	200403	broad.mit.edu	37	2	98928694	98928694	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:98928694G>A	ENST00000477737.1	+	28	3971	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1256										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCGGCCGGGCGTCTAGGACTC	0.607																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(3766-3768)cGt>cAt		von Willebrand factor A domain containing 3B							48.0	57.0	54.0					2																	98928694		2088	4216	6304	SO:0001583	missense	200403							g.chr2:98928694G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3767G>A	2.37:g.98928694G>A	ENSP00000417955:p.Arg1256His					VWA3B_ENST00000490947.2_3'UTR	p.R1256H	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			28	3971	+			1256					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3767G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	9.632	1.136653	0.21123	.	.	ENSG00000168658	ENST00000477737;ENST00000473149;ENST00000358269	T	0.07216	3.21	4.09	-2.35	0.06684	.	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.13407	0.009	T	0.41466	-0.9507	9	0.39692	T	0.17	.	1.1526	0.01789	0.3414:0.1436:0.3684:0.1466	.	1256	Q502W6	VWA3B_HUMAN	H	1256;722;378	ENSP00000417955:R1256H	ENSP00000351009:R378H	R	+	2	0	VWA3B	98295126	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.062000	0.11674	-0.480000	0.06803	-1.121000	0.02013	CGT		0.607	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		68	112	0	0	0	1	0	68	112				
SLC5A11	115584	broad.mit.edu	37	16	24883505	24883505	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:24883505G>A	ENST00000347898.3	+	5	959	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	SLC5A11_ENST00000569071.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A49T|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A113T|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A113T|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A78T	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCTGATGTTGGCCTGGATCTT	0.517																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(337-339)Gcc>Acc		solute carrier family 5 (sodium/inositol cotransporter), member 11							327.0	295.0	306.0					16																	24883505		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24883505G>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.337G>A	16.37:g.24883505G>A	ENSP00000289932:p.Ala113Thr					SLC5A11_ENST00000539472.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A113T|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A113T|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A49T|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A49T	p.A113T	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	5	959	+			113						Missense_Mutation	SNP	ENST00000347898.3	37	c.337G>A	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	g	22.0	4.226797	0.79576	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.25;-2.3	4.89	-1.42	0.08913	.	0.240762	0.41001	D	0.000971	D	0.93396	0.7894	M	0.91140	3.18	0.37318	D	0.909431	P;P;B;D	0.64830	0.783;0.877;0.444;0.994	P;P;B;D	0.69479	0.542;0.628;0.36;0.964	D	0.93660	0.6981	10	0.87932	D	0	.	13.9133	0.63881	0.0:0.0:0.3469:0.6531	.	78;113;113;49	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	T	113;49;113;78;49	ENSP00000289932:A113T;ENSP00000389606:A49T;ENSP00000416782:A113T;ENSP00000441384:A78T;ENSP00000441018:A49T	ENSP00000289932:A113T	A	+	1	0	SLC5A11	24791006	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	0.404000	0.20999	-0.547000	0.06207	0.443000	0.29094	GCC		0.517	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		9	166	0	0	0	1	0	9	166				
TMEM63A	9725	broad.mit.edu	37	1	226037743	226037743	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:226037743C>T	ENST00000366835.3	-	21	2211	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	647					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGAGGTTGTGCCGGTCCACCA	0.602																																						ENST00000366835.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1939-1941)cgG>cgA		transmembrane protein 63A							132.0	118.0	122.0					1																	226037743		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226037743C>T		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1941G>A	1.37:g.226037743C>T							p.R647R	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			21	2211	-	Breast(184;0.197)		647					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.1941G>A	CCDS31042.1																																																																																				0.602	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		6	469	0	0	0	1	0	6	469				
ALPK2	115701	broad.mit.edu	37	18	56204451	56204451	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:56204451T>C	ENST00000361673.3	-	5	3181	c.2968A>G	c.(2968-2970)Aca>Gca	p.T990A	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	990						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTTAATGTTGTTGGCTTCTCC	0.488																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(2968-2970)Aca>Gca		alpha-kinase 2							109.0	101.0	104.0					18																	56204451		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56204451T>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2968A>G	18.37:g.56204451T>C	ENSP00000354991:p.Thr990Ala					RP11-1151B14.4_ENST00000591360.1_RNA	p.T990A	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	3181	-			990					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.2968A>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	9.351	1.065556	0.20067	.	.	ENSG00000198796	ENST00000361673	T	0.52295	0.67	5.41	-6.33	0.01988	.	1.692290	0.03097	N	0.160562	T	0.28234	0.0697	L	0.31926	0.97	0.09310	N	1	B;B	0.22909	0.077;0.046	B;B	0.19391	0.025;0.011	T	0.07986	-1.0744	10	0.22109	T	0.4	0.3807	0.8581	0.01187	0.2972:0.1997:0.0999:0.4031	.	990;990	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	A	990	ENSP00000354991:T990A	ENSP00000354991:T990A	T	-	1	0	ALPK2	54355431	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.379000	0.07437	-1.405000	0.02048	-2.480000	0.00198	ACA		0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		4	228	0	0	0	1	0	4	228				
NEB	4703	broad.mit.edu	37	2	152420121	152420121	+	Splice_Site	SNP	G	G	A	rs375357016		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:152420121G>A	ENST00000172853.10	-	91	13736	c.13589C>T	c.(13588-13590)gCg>gTg	p.A4530V	NEB_ENST00000397345.3_Splice_Site_p.A6231V|NEB_ENST00000427231.2_Splice_Site_p.A6231V|NEB_ENST00000409198.1_Splice_Site_p.A4530V|NEB_ENST00000604864.1_Splice_Site_p.A6231V|NEB_ENST00000603639.1_Splice_Site_p.A6231V			P20929	NEBU_HUMAN	nebulin	4530					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.A4530E(1)|p.A6231E(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTACTTACCGCACTCCTCAT	0.473																																						ENST00000397345.3																			2	Substitution - Missense(2)	p.A4530E(1)|p.A6231E(1)	endometrium(2)	NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.e119+1		nebulin		G	VAL/ALA,VAL/ALA,VAL/ALA	1,3955		0,1,1977	234.0	222.0	226.0		13589,18692,18692	-5.0	0.5	2		226	0,8318		0,0,4159	no	missense-near-splice,missense-near-splice,missense-near-splice	NEB	NM_004543.4,NM_001164508.1,NM_001164507.1	64,64,64	0,1,6136	AA,AG,GG		0.0,0.0253,0.0081	benign,benign,benign	4530/6670,6231/8526,6231/8526	152420121	1,12273	1978	4159	6137	SO:0001630	splice_region_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152420121G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13590+1C>T	2.37:g.152420121G>A						NEB_ENST00000427231.2_Splice_Site_p.A6231_splice|NEB_ENST00000409198.1_Splice_Site_p.A4530_splice|NEB_ENST00000603639.1_Splice_Site_p.A6231_splice|NEB_ENST00000172853.10_Splice_Site_p.A4530_splice|NEB_ENST00000604864.1_Splice_Site_p.A6231_splice	p.A6231_splice	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	119	18894	-			6213					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	ENST00000172853.10	37	c.18693_splice		.	.	.	.	.	.	.	.	.	.	G	13.40	2.225906	0.39300	2.53E-4	0.0	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.54	-4.98	0.03019	.	0.604415	0.18713	N	0.133230	T	0.22859	0.0552	L	0.44542	1.39	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.11329	0.003;0.006	T	0.01805	-1.1270	10	0.39692	T	0.17	.	14.0005	0.64431	0.6299:0.0:0.3701:0.0	.	4530;961	P20929;Q14215	NEBU_HUMAN;.	V	4530;6231;6231;579;961;4530	ENSP00000386259:A4530V;ENSP00000380505:A6231V;ENSP00000416578:A6231V;ENSP00000410961:A961V;ENSP00000172853:A4530V	ENSP00000172853:A4530V	A	-	2	0	NEB	152128367	0.876000	0.30132	0.537000	0.28052	0.860000	0.49131	0.075000	0.14686	-1.451000	0.01933	-0.259000	0.10710	GCG		0.473	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Missense_Mutation	193	595	0	0	0	1	0	193	595				
GALNT18	374378	broad.mit.edu	37	11	11398786	11398786	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:11398786C>T	ENST00000227756.4	-	5	1331	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	307					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										ATTTAGGTAGCGGCACCACAG	0.532																																						ENST00000227756.4																			0											c.(919-921)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							71.0	69.0	70.0					11																	11398786		2201	4294	6495	SO:0001583	missense	374378							g.chr11:11398786C>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.920G>A	11.37:g.11398786C>T	ENSP00000227756:p.Arg307His						p.R307H	NM_198516.2	NP_940918.2					5	1331	-								O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.920G>A	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054867	0.75960	.	.	ENSG00000110328	ENST00000227756	T	0.59364	0.27	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	L	0.45744	1.44	0.48236	D	0.999614	D	0.89917	1.0	D	0.85130	0.997	T	0.68424	-0.5412	10	0.49607	T	0.09	.	12.6283	0.56642	0.1657:0.8343:0.0:0.0	.	307	Q6P9A2	GLTL4_HUMAN	H	307	ENSP00000227756:R307H	ENSP00000227756:R307H	R	-	2	0	GALNTL4	11355362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.708000	0.61859	2.473000	0.83533	0.655000	0.94253	CGC		0.532	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		94	239	0	0	0	1	0	94	239				
TXNRD3NB	645840	broad.mit.edu	37	3	126291164	126291164	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:126291164G>T	ENST00000404489.2	-	1	315	c.223C>A	c.(223-225)Ctg>Atg	p.L75M	TXNRD3NB_ENST00000383572.2_Missense_Mutation_p.L75M			Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	75										endometrium(1)|large_intestine(2)|skin(2)	5						ctggcttgcagtgccctggAG	0.542																																						ENST00000383572.2																			0				endometrium(1)|large_intestine(2)|skin(2)	5						c.(223-225)Ctg>Atg		thioredoxin reductase 3 neighbor							59.0	60.0	60.0					3																	126291164		2203	4300	6503	SO:0001583	missense	645840							g.chr3:126291164G>T	BC130546	CCDS33846.1	3q21.3	2011-04-13	2011-04-13	2011-04-13	ENSG00000206483	ENSG00000206483			33870	protein-coding gene	gene with protein product	"""thioredoxin reductase 3 new transcript 1"""		"""thioredoxin reductase 3 intronic transcript 1"""	TXNRD3IT1		15674732	Standard	NM_001039783		Approved	TR2IT1, TXNRD3NT1	uc003ejc.3	Q6F5E7	OTTHUMG00000162732	ENST00000404489.2:c.223C>A	3.37:g.126291164G>T	ENSP00000384071:p.Leu75Met					TXNRD3NB_ENST00000404489.2_Missense_Mutation_p.L75M	p.L75M	NM_001039783.1	NP_001034872.1	Q6F5E7	TR3N_HUMAN			3	701	-			75						Missense_Mutation	SNP	ENST00000404489.2	37	c.223C>A	CCDS33846.1	.	.	.	.	.	.	.	.	.	.	G	0.878	-0.729854	0.03135	.	.	ENSG00000206483	ENST00000383572;ENST00000404489	.	.	.	0.661	0.661	0.17874	.	.	.	.	.	T	0.34600	0.0903	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	D	0.72982	0.979	T	0.22312	-1.0220	7	0.87932	D	0	.	.	.	.	.	75	Q6F5E7	TR3N_HUMAN	M	75	.	ENSP00000373066:L75M	L	-	1	2	TXNRD3NB	127773854	0.001000	0.12720	0.003000	0.11579	0.012000	0.07955	0.026000	0.13599	0.639000	0.30564	0.467000	0.42956	CTG		0.542	TXNRD3NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370233.2	NM_001039783		58	162	1	0	1.4709e-25	1	1.56519e-25	58	162				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		50	156	0	0	0	1	0	50	156				
GDI1	2664	broad.mit.edu	37	X	153665646	153665646	+	Splice_Site	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:153665646G>A	ENST00000447750.2	+	1	380		c.e1+1			NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1						negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGTCTCACCGTAAGTGCGGC	0.697																																						ENST00000447750.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.e1+1		GDP dissociation inhibitor 1							68.0	45.0	53.0					X																	153665646		2201	4300	6501	SO:0001630	splice_region_variant	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153665646G>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.45+1G>A	X.37:g.153665646G>A								NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN			1	380	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)							P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Splice_Site	SNP	ENST00000447750.2	37		CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469539	0.43839	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1083	0.53825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GDI1	153318840	1.000000	0.71417	0.982000	0.44146	0.236000	0.25371	8.579000	0.90781	1.690000	0.51089	0.284000	0.19432	.		0.697	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493	Intron	4	149	0	0	0	1	0	4	149				
OR7E91P	79315	broad.mit.edu	37	2	71256928	71256928	+	RNA	SNP	A	A	T	rs372003181	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:71256928A>T	ENST00000434990.1	-	0	61																											TTTCATCTACAGCCTGAGAAA	0.527													-|||	3	0.000599042	0.0008	0.0014	5008	,	,		20696	0.0		0.0	False		,,,				2504	0.001					ENST00000434990.1																			0																																																			0							g.chr2:71256928A>T																													2.37:g.71256928A>T														0	61	-									RNA	SNP	ENST00000434990.1	37																																																																																						0.527	AC007040.8-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000332235.4			3	45	0	0	0	1	0	3	45				
DMXL1	1657	broad.mit.edu	37	5	118484750	118484750	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:118484750G>T	ENST00000311085.8	+	18	3308	c.3228G>T	c.(3226-3228)atG>atT	p.M1076I	DMXL1_ENST00000539542.1_Missense_Mutation_p.M1076I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1076										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTTTGTGATGCATGTAAGTA	0.413																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(3226-3228)atG>atT		Dmx-like 1							156.0	158.0	158.0					5																	118484750		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118484750G>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3228G>T	5.37:g.118484750G>T	ENSP00000309690:p.Met1076Ile					DMXL1_ENST00000539542.1_Missense_Mutation_p.M1076I	p.M1076I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	3308	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1076						Missense_Mutation	SNP	ENST00000311085.8	37	c.3228G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339688	0.41398	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.30182	1.54;1.54	5.65	5.65	0.86999	.	0.039008	0.85682	D	0.000000	T	0.31949	0.0813	L	0.42581	1.335	0.51012	D	0.999902	B;B	0.21821	0.061;0.021	B;B	0.19946	0.027;0.012	T	0.03278	-1.1053	10	0.41790	T	0.15	-15.3466	20.0965	0.97849	0.0:0.0:1.0:0.0	.	1076;1076	F5H269;Q9Y485	.;DMXL1_HUMAN	I	1076	ENSP00000309690:M1076I;ENSP00000439479:M1076I	ENSP00000309690:M1076I	M	+	3	0	DMXL1	118512649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.545000	0.60698	2.824000	0.97209	0.655000	0.94253	ATG		0.413	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		59	319	1	0	7.89702e-26	1	8.45746e-26	59	319				
OSBPL1A	114876	broad.mit.edu	37	18	21898597	21898597	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21898597C>A	ENST00000319481.3	-	9	906	c.700G>T	c.(700-702)Gca>Tca	p.A234S		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	234	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CGTTTCAATGCTTTGTAGATG	0.279																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(700-702)Gca>Tca		oxysterol binding protein-like 1A							40.0	41.0	41.0					18																	21898597		2202	4295	6497	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21898597C>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.700G>T	18.37:g.21898597C>A	ENSP00000320291:p.Ala234Ser						p.A234S	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			9	906	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		234					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.700G>T	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	4.909	0.169002	0.09339	.	.	ENSG00000141447	ENST00000319481	T	0.44881	0.91	5.56	1.49	0.22878	Ankyrin repeat-containing domain (2);	0.491348	0.21599	N	0.071965	T	0.22551	0.0544	N	0.25647	0.755	0.58432	D	0.999998	B;B	0.12630	0.006;0.006	B;B	0.15870	0.014;0.014	T	0.07731	-1.0757	10	0.08599	T	0.76	-5.6116	6.4427	0.21859	0.1097:0.4683:0.3476:0.0743	.	234;234	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	S	234	ENSP00000320291:A234S	ENSP00000320291:A234S	A	-	1	0	OSBPL1A	20152595	0.676000	0.27567	0.851000	0.33527	0.873000	0.50193	0.364000	0.20325	0.284000	0.22305	0.650000	0.86243	GCA		0.279	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		89	343	1	0	1.39521e-32	1	1.50393e-32	89	343				
CCDC171	203238	broad.mit.edu	37	9	15666164	15666164	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:15666164C>T	ENST00000380701.3	+	9	1247	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	CCDC171_ENST00000297641.3_Missense_Mutation_p.R307W	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	307	Glu-rich.																CCGGTAGTTACGGATTCGAGA	0.368																																						ENST00000380701.3																			0											c.(919-921)Cgg>Tgg		coiled-coil domain containing 171							72.0	72.0	72.0					9																	15666164		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15666164C>T	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.919C>T	9.37:g.15666164C>T	ENSP00000370077:p.Arg307Trp					CCDC171_ENST00000297641.3_Missense_Mutation_p.R307W	p.R307W	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			9	1247	+			307			Glu-rich.		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.919C>T	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236589	0.58886	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.21361	2.01;2.01	5.04	1.89	0.25635	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	P;P;P	0.59288	0.855;0.799;0.855	T	0.09640	-1.0665	10	0.87932	D	0	-5.486	14.6238	0.68605	0.4658:0.5342:0.0:0.0	.	307;307;307	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	W	307	ENSP00000297641:R307W;ENSP00000370077:R307W	ENSP00000297641:R307W	R	+	1	2	C9orf93	15656164	0.999000	0.42202	1.000000	0.80357	0.932000	0.56968	0.480000	0.22244	0.594000	0.29761	-0.230000	0.12252	CGG		0.368	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		6	222	0	0	0	1	0	6	222				
CRIPAK	285464	broad.mit.edu	37	4	1388722	1388722	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:1388722C>T	ENST00000324803.4	+	1	3383	c.423C>T	c.(421-423)tgC>tgT	p.C141C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	141					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)			CTCACACGTGCCCATGCGGAG	0.697																																						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.(421-423)tgC>tgT		cysteine-rich PAK1 inhibitor							37.0	35.0	36.0					4																	1388722		1907	3673	5580	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.chr4:1388722C>T	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.423C>T	4.37:g.1388722C>T							p.C141C	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3383	+			141					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.423C>T	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	5.335	0.247132	0.10130	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-0.286	0.12862	.	.	.	.	.	T	0.28532	0.0706	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29971	-0.9994	5	0.54805	T	0.06	.	2.9357	0.05814	0.3054:0.3898:0.3048:0.0	.	.	.	.	S	125	.	ENSP00000372402:P125S	P	+	1	0	CRIPAK	1378722	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-1.190000	0.03058	-0.076000	0.12775	0.121000	0.15741	CCC		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		15	2672	0	0	0	1	0	15	2672				
NPAS3	64067	broad.mit.edu	37	14	34270091	34270091	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:34270091G>A	ENST00000356141.4	+	12	2578	c.2578G>A	c.(2578-2580)Ggc>Agc	p.G860S	NPAS3_ENST00000357798.5_Missense_Mutation_p.G847S|NPAS3_ENST00000551492.1_Missense_Mutation_p.G865S|NPAS3_ENST00000346562.2_Missense_Mutation_p.G828S|NPAS3_ENST00000548645.1_Missense_Mutation_p.G830S			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	860					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TAACAGCCCCGGCTTTGGCCT	0.652																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(2482-2484)Ggc>Agc		neuronal PAS domain protein 3							43.0	29.0	34.0					14																	34270091		2202	4300	6502	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34270091G>A	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2578G>A	14.37:g.34270091G>A	ENSP00000348460:p.Gly860Ser					NPAS3_ENST00000357798.5_Missense_Mutation_p.G847S|NPAS3_ENST00000551492.1_Missense_Mutation_p.G865S|NPAS3_ENST00000548645.1_Missense_Mutation_p.G830S|NPAS3_ENST00000356141.4_Missense_Mutation_p.G860S	p.G828S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	2556	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		860					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.2482G>A	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751605	0.31046	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.11169	3.07;2.9;2.96;2.96;2.93;2.8	5.02	5.02	0.67125	.	0.054609	0.64402	D	0.000001	T	0.08133	0.0203	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.17667	0.023;0.013;0.023;0.023	B;B;B;B	0.15052	0.012;0.005;0.012;0.012	T	0.19192	-1.0313	10	0.37606	T	0.19	.	9.6998	0.40180	0.1303:0.0:0.8697:0.0	.	830;860;828;847	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	S	834;865;828;830;860;847	ENSP00000448373:G834S;ENSP00000450392:G865S;ENSP00000319610:G828S;ENSP00000448916:G830S;ENSP00000348460:G860S;ENSP00000350446:G847S	ENSP00000319610:G828S	G	+	1	0	NPAS3	33339842	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	4.058000	0.57463	2.310000	0.77875	0.484000	0.47621	GGC		0.652	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			13	24	0	0	0	1	0	13	24				
ADAMTS16	170690	broad.mit.edu	37	5	5303758	5303758	+	Missense_Mutation	SNP	C	C	T	rs550504360		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:5303758C>T	ENST00000274181.7	+	20	3203	c.3065C>T	c.(3064-3066)gCg>gTg	p.A1022V		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1022	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCGGCCAGAGCGCAGCTGCTG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17388	0.0		0.0	False		,,,				2504	0.001					ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(3064-3066)gCg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 16							42.0	51.0	48.0					5																	5303758		2155	4269	6424	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5303758C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3065C>T	5.37:g.5303758C>T	ENSP00000274181:p.Ala1022Val						p.A1022V	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			20	3203	+			1022			TSP type-1 4.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.3065C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580800	0.28180	.	.	ENSG00000145536	ENST00000274181	T	0.55234	0.53	4.79	4.79	0.61399	.	0.128592	0.52532	D	0.000076	T	0.43211	0.1237	L	0.33753	1.03	0.32102	N	0.590414	B;B	0.25719	0.132;0.101	B;B	0.23716	0.048;0.03	T	0.51671	-0.8676	10	0.36615	T	0.2	.	15.7068	0.77588	0.0:1.0:0.0:0.0	.	1022;1022	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	V	1022	ENSP00000274181:A1022V	ENSP00000274181:A1022V	A	+	2	0	ADAMTS16	5356758	0.630000	0.27155	0.040000	0.18447	0.026000	0.11368	3.024000	0.49674	2.359000	0.80004	0.650000	0.86243	GCG		0.627	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		5	163	0	0	0	1	0	5	163				
ACAN	176	broad.mit.edu	37	15	89382241	89382241	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:89382241G>A	ENST00000561243.1	+	2	418	c.418G>A	c.(418-420)Gag>Aag	p.E140K	ACAN_ENST00000559004.1_Missense_Mutation_p.E140K|ACAN_ENST00000439576.2_Missense_Mutation_p.E140K|ACAN_ENST00000558207.1_Missense_Mutation_p.E140K|ACAN_ENST00000352105.7_Missense_Mutation_p.E140K			P16112	PGCA_HUMAN	aggrecan	140	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCATGGCATCGAGGACAGCGA	0.612																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(418-420)Gag>Aag		aggrecan							87.0	96.0	93.0					15																	89382241		2120	4236	6356	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89382241G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.418G>A	15.37:g.89382241G>A	ENSP00000453342:p.Glu140Lys					ACAN_ENST00000558207.1_Missense_Mutation_p.E140K|ACAN_ENST00000352105.7_Missense_Mutation_p.E140K|ACAN_ENST00000559004.1_Missense_Mutation_p.E140K|ACAN_ENST00000561243.1_Missense_Mutation_p.E140K	p.E140K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		3	792	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		140					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.418G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980547	0.92982	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02656	4.21;4.21	5.6	5.6	0.85130	.	0.000000	0.33005	N	0.005399	T	0.20820	0.0501	M	0.88570	2.965	0.51482	D	0.999925	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.931;0.949;0.995	T	0.00379	-1.1777	10	0.72032	D	0.01	-10.703	18.9733	0.92724	0.0:0.0:1.0:0.0	.	140;140;140	E7ENV9;E7EX88;Q6PID9	.;.;.	K	140	ENSP00000387356:E140K;ENSP00000341615:E140K	ENSP00000268134:E140K	E	+	1	0	ACAN	87183245	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	9.715000	0.98748	2.806000	0.96561	0.655000	0.94253	GAG		0.612	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		145	282	0	0	0	1	0	145	282				
MEP1A	4224	broad.mit.edu	37	6	46761185	46761185	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:46761185C>T	ENST00000230588.4	+	1	59	c.50C>T	c.(49-51)gCc>gTc	p.A17V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	17					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A17V(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGCTTTTTGCCCACATAGCA	0.348																																						ENST00000230588.4																			1	Substitution - Missense(1)	p.A17V(1)	lung(1)	NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(49-51)gCc>gTc		meprin A, alpha (PABA peptide hydrolase)							218.0	199.0	205.0					6																	46761185		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46761185C>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.50C>T	6.37:g.46761185C>T	ENSP00000230588:p.Ala17Val						p.A17V	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		1	59	+			17					A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.50C>T	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	3.305	-0.142020	0.06669	.	.	ENSG00000112818	ENST00000230588	T	0.24151	1.87	5.21	-0.00269	0.14028	.	0.705821	0.14141	N	0.338738	T	0.04272	0.0118	N	0.25890	0.77	0.09310	N	0.999995	B;B	0.12013	0.004;0.005	B;B	0.10450	0.005;0.002	T	0.45673	-0.9245	10	0.11794	T	0.64	-3.8338	7.5808	0.27963	0.0:0.4834:0.0:0.5166	.	17;17	B7ZL91;Q16819	.;MEP1A_HUMAN	V	17	ENSP00000230588:A17V	ENSP00000230588:A17V	A	+	2	0	MEP1A	46869144	0.004000	0.15560	0.783000	0.31826	0.135000	0.20990	-0.290000	0.08354	-0.016000	0.14127	0.655000	0.94253	GCC		0.348	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		5	531	0	0	0	1	0	5	531				
KRTAP5-4	387267	broad.mit.edu	37	11	1643049	1643049	+	Missense_Mutation	SNP	A	A	C	rs200027081		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:1643049A>C	ENST00000399682.1	-	1	319	c.275T>G	c.(274-276)gTc>gGc	p.V92G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.V92G(2)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGACACAGCCCCC	0.682																																						ENST00000399682.1																			2	Substitution - Missense(2)	p.V92G(2)	endometrium(2)	NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(274-276)gTc>gGc		keratin associated protein 5-4																																				SO:0001583	missense	387267					keratin filament		g.chr11:1643049A>C	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.275T>G	11.37:g.1643049A>C	ENSP00000382590:p.Val92Gly						p.V92G	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	319	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	92			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.275T>G		.	.	.	.	.	.	.	.	.	.	a	0.045	-1.268581	0.01433	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00678	5.87	1.97	1.02	0.19986	.	.	.	.	.	T	0.00178	0.0005	N	0.00008	-3.125	0.39754	D	0.971927	B	0.02656	0.0	B	0.01281	0.0	T	0.45673	-0.9245	9	0.23302	T	0.38	.	7.7364	0.28817	0.2529:0.7471:0.0:0.0	.	152	Q6L8H1	KRA54_HUMAN	G	92	ENSP00000382590:V92G	ENSP00000331603:V92G	V	-	2	0	KRTAP5-4	1599625	0.645000	0.27286	0.937000	0.37676	0.105000	0.19272	-0.096000	0.11059	0.380000	0.24823	-0.328000	0.08392	GTC		0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		6	212	0	0	0	1	0	6	212				
SLFN13	146857	broad.mit.edu	37	17	33771812	33771812	+	Silent	SNP	G	G	T	rs372414173		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:33771812G>T	ENST00000285013.6	-	3	1163	c.888C>A	c.(886-888)acC>acA	p.T296T	SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000542635.1_Silent_p.T296T|SLFN13_ENST00000533791.1_Silent_p.T296T|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000526861.1_Silent_p.T296T	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	296						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTACGATTTTGGTGCTGTACT	0.413																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(886-888)acC>acA		schlafen family member 13		G		0,4406		0,0,2203	179.0	171.0	174.0		888	0.1	0.0	17		174	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLFN13	NM_144682.5		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		296/898	33771812	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	146857					intracellular	ATP binding	g.chr17:33771812G>T	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.888C>A	17.37:g.33771812G>T						SLFN13_ENST00000526861.1_Silent_p.T296T|SLFN13_ENST00000542635.1_Silent_p.T296T|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Silent_p.T296T|SLFN13_ENST00000360502.2_Intron	p.T296T	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	3	1163	-			296					E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	c.888C>A	CCDS32620.1																																																																																				0.413	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		144	689	1	0	1.19641e-65	1	1.33292e-65	144	689				
IL4I1	259307	broad.mit.edu	37	19	50399114	50399114	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:50399114G>A	ENST00000391826.2	-	3	352	c.210C>T	c.(208-210)gcC>gcT	p.A70A	IL4I1_ENST00000595948.1_Silent_p.A92A|IL4I1_ENST00000341114.3_Silent_p.A92A	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	70						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	CCACCAGCCCGGCCACACCAG	0.627																																						ENST00000595948.1																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(274-276)gcC>gcT		interleukin 4 induced 1							100.0	107.0	105.0					19																	50399114		2203	4300	6503	SO:0001819	synonymous_variant	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50399114G>A	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.210C>T	19.37:g.50399114G>A						IL4I1_ENST00000341114.3_Silent_p.A92A|IL4I1_ENST00000391826.2_Silent_p.A70A	p.A92A	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	5	896	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	70					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	c.276C>T	CCDS12787.1																																																																																				0.627	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			31	655	0	0	0	1	0	31	655				
LILRB1	10859	broad.mit.edu	37	19	55144146	55144146	+	Missense_Mutation	SNP	A	A	C	rs563262541	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:55144146A>C	ENST00000396331.1	+	7	1250	c.893A>C	c.(892-894)tAc>tCc	p.Y298S	LILRB1_ENST00000396315.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000324602.7_Missense_Mutation_p.Y298S|LILRB1_ENST00000448689.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000427581.2_Missense_Mutation_p.Y334S|LILRB1_ENST00000396327.3_Missense_Mutation_p.Y298S|LILRB1_ENST00000396317.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000418536.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396321.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000434867.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396332.4_Missense_Mutation_p.Y298S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	298	Ig-like C2-type 3.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TACAGATGCTACGGTGCACAC	0.672										HNSCC(37;0.09)			a|||	2	0.000399361	0.0015	0.0	5008	,	,		16509	0.0		0.0	False		,,,				2504	0.0					ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(892-894)tAc>tCc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							47.0	49.0	49.0					19																	55144146		2203	4298	6501	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144146A>C	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.893A>C	19.37:g.55144146A>C	ENSP00000379622:p.Tyr298Ser	HNSCC(37;0.09)				LILRB1_ENST00000418536.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000448689.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000396332.4_Missense_Mutation_p.Y298S|LILRB1_ENST00000324602.7_Missense_Mutation_p.Y298S|LILRB1_ENST00000396317.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000434867.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396321.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396327.3_Missense_Mutation_p.Y298S|LILRB1_ENST00000396315.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000427581.2_Missense_Mutation_p.Y334S	p.Y298S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1250	+			298			Ig-like C2-type 3.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.893A>C	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	A	5.091	0.202429	0.09652	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76	2.03	0.938	0.19500	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.252811	0.20873	N	0.084132	T	0.16557	0.0398	M	0.74467	2.265	0.09310	N	0.999994	B;B;P;B;B	0.37233	0.34;0.004;0.588;0.01;0.005	B;B;P;B;B	0.45506	0.261;0.031;0.483;0.031;0.052	T	0.08848	-1.0702	10	0.48119	T	0.1	.	5.3334	0.15945	0.7111:0.2889:0.0:0.0	.	298;298;298;298;298	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	S	298;298;298;298;298;298;298;298;334;298;298	ENSP00000379614:Y298S;ENSP00000391514:Y298S;ENSP00000409968:Y298S;ENSP00000379622:Y298S;ENSP00000379618:Y298S;ENSP00000315997:Y298S;ENSP00000405243:Y298S;ENSP00000379623:Y298S;ENSP00000395004:Y334S;ENSP00000379610:Y298S;ENSP00000379608:Y298S	ENSP00000315997:Y298S	Y	+	2	0	LILRB1	59835958	0.000000	0.05858	0.217000	0.23759	0.009000	0.06853	-0.248000	0.08854	0.015000	0.14971	-1.341000	0.01249	TAC		0.672	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			4	276	0	0	0	1	0	4	276				
DENND4B	9909	broad.mit.edu	37	1	153907303	153907303	+	Silent	SNP	C	C	T	rs557071025	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:153907303C>T	ENST00000361217.4	-	18	3124	c.2706G>A	c.(2704-2706)caG>caA	p.Q902Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	902	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgctgctgttgctgct	0.642																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2704-2706)caG>caA		DENN/MADD domain containing 4B							30.0	39.0	36.0					1																	153907303		2184	4281	6465	SO:0001819	synonymous_variant	9909							g.chr1:153907303C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2706G>A	1.37:g.153907303C>T							p.Q902Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3124	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		902			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2706G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		5	260	0	0	0	1	0	5	260				
TP53	7157	broad.mit.edu	37	17	7577505	7577505	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:7577505T>A	ENST00000269305.4	-	7	965	c.776A>T	c.(775-777)gAc>gTc	p.D259V	TP53_ENST00000420246.2_Missense_Mutation_p.D259V|TP53_ENST00000359597.4_Missense_Mutation_p.D259V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.D259V|TP53_ENST00000445888.2_Missense_Mutation_p.D259V|TP53_ENST00000413465.2_Missense_Mutation_p.D259V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	259	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D259V(18)|p.0?(8)|p.D259G(4)|p.D259F(3)|p.D259fs*5(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGACCTGGAGTCTTCCAGTGT	0.587		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		41	Substitution - Missense(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.D259V(18)|p.0?(8)|p.D259G(4)|p.D259F(3)|p.D259fs*5(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)	lung(8)|upper_aerodigestive_tract(5)|bone(4)|large_intestine(3)|stomach(3)|central_nervous_system(3)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|liver(2)|skin(2)|pancreas(1)|breast(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(775-777)gAc>gTc	Other conserved DNA damage response genes	tumor protein p53							134.0	95.0	108.0					17																	7577505		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577505T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.776A>T	17.37:g.7577505T>A	ENSP00000269305:p.Asp259Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.D259V|TP53_ENST00000445888.2_Missense_Mutation_p.D259V|TP53_ENST00000269305.4_Missense_Mutation_p.D259V|TP53_ENST00000359597.4_Missense_Mutation_p.D259V|TP53_ENST00000413465.2_Missense_Mutation_p.D259V	p.D259V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	908	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	259		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.776A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.636906	0.47049	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.52	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.164918	0.53938	D	0.000053	D	0.99557	0.9841	M	0.82630	2.6	0.80722	D	1	P;P;P;P;P	0.52842	0.482;0.483;0.537;0.815;0.956	P;B;P;P;P	0.57244	0.692;0.401;0.63;0.795;0.816	D	0.98404	1.0569	10	0.62326	D	0.03	-22.926	7.6416	0.28296	0.1888:0.0:0.0:0.8112	.	259;259;259;259;259	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	V	259;259;259;259;259;259;248;127	ENSP00000410739:D259V;ENSP00000352610:D259V;ENSP00000269305:D259V;ENSP00000398846:D259V;ENSP00000391127:D259V;ENSP00000391478:D259V;ENSP00000425104:D127V	ENSP00000269305:D259V	D	-	2	0	TP53	7518230	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	2.616000	0.46376	2.036000	0.60181	0.379000	0.24179	GAC		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	63	0	0	0	1	0	42	63				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_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_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L	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			5	150	1	0	0.014758	1	0.014938	5	150				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			0							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		6	311	0	0	0	1	0	6	311				
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:45128742T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TAATGATTTTTATTATACTTT	0.328													g|||	2160	0.43131	0.3593	0.4986	5008	,	,		16551	0.3482		0.4861	False		,,,				2504	0.5102					ENST00000575173.1																			0																																																			0							g.chr17:45128742T>G																													17.37:g.45128742T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.328	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	291	0	0	0	1	0	6	291				
TMEM200A	114801	broad.mit.edu	37	6	130761706	130761706	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:130761706G>T	ENST00000296978.3	+	3	1010	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	TMEM200A_ENST00000545622.1_Missense_Mutation_p.D47Y|TMEM200A_ENST00000392429.1_Missense_Mutation_p.D47Y	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	47						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCCCCGGGCAGATGTTGTGGT	0.507																																						ENST00000392429.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(139-141)Gat>Tat		transmembrane protein 200A							123.0	126.0	125.0					6																	130761706		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130761706G>T	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.139G>T	6.37:g.130761706G>T	ENSP00000296978:p.Asp47Tyr					TMEM200A_ENST00000296978.3_Missense_Mutation_p.D47Y|TMEM200A_ENST00000545622.1_Missense_Mutation_p.D47Y	p.D47Y	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	2517	+			47					Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.139G>T	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935617	0.73442	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77446	-0.2585	9	0.87932	D	0	.	19.6088	0.95594	0.0:0.0:1.0:0.0	.	47	Q86VY9	T200A_HUMAN	Y	47	.	ENSP00000296978:D47Y	D	+	1	0	TMEM200A	130803399	1.000000	0.71417	0.657000	0.29651	0.908000	0.53690	9.668000	0.98619	2.623000	0.88846	0.650000	0.86243	GAT		0.507	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		154	158	1	0	4.58859e-59	1	5.07804e-59	154	158				
GPHN	10243	broad.mit.edu	37	14	67626189	67626189	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:67626189G>T	ENST00000315266.5	+	18	2916	c.1795G>T	c.(1795-1797)Gtt>Ttt	p.V599F	GPHN_ENST00000305960.9_Missense_Mutation_p.V568F|GPHN_ENST00000478722.1_Missense_Mutation_p.V632F|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.V645F	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	599	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TTTTGGCAGGGTTTTTATGAA	0.333			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(1894-1896)Gtt>Ttt		gephyrin							163.0	164.0	163.0					14																	67626189		2203	4300	6503	SO:0001583	missense	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67626189G>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1795G>T	14.37:g.67626189G>T	ENSP00000312771:p.Val599Phe					GPHN_ENST00000543237.1_Missense_Mutation_p.V645F|GPHN_ENST00000315266.5_Missense_Mutation_p.V599F|GPHN_ENST00000305960.9_Missense_Mutation_p.V568F|GPHN_ENST00000544752.2_3'UTR	p.V632F	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	19	3015	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	599			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	c.1894G>T	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845302	0.91197	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960;ENST00000555503	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.66	5.66	0.87406	Molybdenum cofactor synthesis (1);Molybdenum cofactor biosynthesis, conserved site (1);Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	D	0.93012	0.7776	H	0.98005	4.125	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;0.996;0.999;0.996	D	0.95232	0.8343	10	0.87932	D	0	-9.3676	18.5075	0.90902	0.0:0.0:1.0:0.0	.	568;645;599;632	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	F	599;632;645;568;124	ENSP00000312771:V599F;ENSP00000417901:V632F;ENSP00000438404:V645F;ENSP00000303019:V568F;ENSP00000452009:V124F	ENSP00000303019:V568F	V	+	1	0	GPHN	66695942	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.326000	0.96389	2.669000	0.90835	0.591000	0.81541	GTT		0.333	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		5	464	1	0	0.000602214	1	0.000617084	5	464				
KSR2	283455	broad.mit.edu	37	12	117977587	117977587	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:117977587G>A	ENST00000339824.5	-	10	2351	c.1624C>T	c.(1624-1626)Ccg>Tcg	p.P542S	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.P513S|KSR2_ENST00000302438.5_Missense_Mutation_p.P239S			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	542	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAGAAGGCGGCGTGGCACTA	0.647																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1537-1539)Ccg>Tcg		kinase suppressor of ras 2							69.0	80.0	77.0					12																	117977587		2122	4211	6333	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977587G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1624C>T	12.37:g.117977587G>A	ENSP00000339952:p.Pro542Ser					KSR2_ENST00000339824.5_Missense_Mutation_p.P542S|KSR2_ENST00000302438.5_Missense_Mutation_p.P239S|KSR2_ENST00000545002.1_5'UTR	p.P513S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			10	1591	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		542			Pro-rich.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1537C>T		.	.	.	.	.	.	.	.	.	.	G	22.2	4.260144	0.80246	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.86297	-1.27;-1.26;-2.1	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	L	0.29908	0.895	0.80722	D	1	D	0.59357	0.985	P	0.53102	0.718	T	0.80214	-0.1475	10	0.02654	T	1	.	18.5691	0.91128	0.0:0.0:1.0:0.0	.	542	Q6VAB6	KSR2_HUMAN	S	513;542;239;214	ENSP00000389715:P513S;ENSP00000339952:P542S;ENSP00000305466:P239S	ENSP00000305466:P239S	P	-	1	0	KSR2	116461970	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.569000	0.98170	2.601000	0.87937	0.655000	0.94253	CCG		0.647	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		61	84	0	0	0	1	0	61	84				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	38	0	0	0	1	0	6	38				
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	lincRNA	SNP	A	A	G	rs577974396	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522																																						ENST00000565869.1																			0																																																			0							g.chr15:78211648A>G																													15.37:g.78211648A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.522	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	191	0	0	0	1	0	4	191				
BRWD3	254065	broad.mit.edu	37	X	79985487	79985487	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:79985487G>A	ENST00000373275.4	-	13	1376	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	387					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AATTCTTGCCGTTCCATCTCG	0.299																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(1159-1161)aCg>aTg		bromodomain and WD repeat domain containing 3							157.0	132.0	140.0					X																	79985487		2203	4299	6502	SO:0001583	missense	254065							g.chrX:79985487G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1160C>T	X.37:g.79985487G>A	ENSP00000362372:p.Thr387Met						p.T387M	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			13	1376	-			387					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1160C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237206	0.79800	.	.	ENSG00000165288	ENST00000373275	T	0.69561	-0.41	4.37	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	M	0.83953	2.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.85220	0.1026	9	.	.	.	-2.364	16.3826	0.83473	0.0:0.0:1.0:0.0	.	387	Q6RI45	BRWD3_HUMAN	M	387	ENSP00000362372:T387M	.	T	-	2	0	BRWD3	79872143	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.207000	0.77899	2.035000	0.60131	0.513000	0.50165	ACG		0.299	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		5	174	0	0	0	1	0	5	174				
UBR2	23304	broad.mit.edu	37	6	42571440	42571440	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:42571440G>A	ENST00000372899.1	+	5	904	c.646G>A	c.(646-648)Gca>Aca	p.A216T	UBR2_ENST00000372901.1_Missense_Mutation_p.A216T|UBR2_ENST00000372903.2_Missense_Mutation_p.A216T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	216					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)	p.A216T(1)		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)			TGAATTGCCAGCAGATTTAGA	0.313																																						ENST00000372899.1																			1	Substitution - Missense(1)	p.A216T(1)	pancreas(1)	breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(646-648)Gca>Aca		ubiquitin protein ligase E3 component n-recognin 2							116.0	123.0	121.0					6																	42571440		2203	4297	6500	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.chr6:42571440G>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.646G>A	6.37:g.42571440G>A	ENSP00000361990:p.Ala216Thr					UBR2_ENST00000372903.2_Missense_Mutation_p.A216T|UBR2_ENST00000372901.1_Missense_Mutation_p.A216T	p.A216T	NM_015255.2	NP_056070.1	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)		5	904	+	Colorectal(47;0.196)		216					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.646G>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928522	0.34002	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.73469	-0.75;0.21;0.21	5.58	1.67	0.24075	.	0.829390	0.10744	N	0.639102	T	0.30166	0.0756	N	0.08118	0	0.80722	D	1	B;B	0.15473	0.004;0.013	B;B	0.25506	0.007;0.061	T	0.25187	-1.0139	10	0.12430	T	0.62	-7.2156	6.1466	0.20289	0.0821:0.3568:0.4611:0.1	.	216;216	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	T	216	ENSP00000361994:A216T;ENSP00000361990:A216T;ENSP00000361992:A216T	ENSP00000361990:A216T	A	+	1	0	UBR2	42679418	0.996000	0.38824	0.998000	0.56505	0.988000	0.76386	0.427000	0.21379	0.728000	0.32382	0.650000	0.86243	GCA		0.313	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		110	258	0	0	0	1	0	110	258				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	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_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_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		6	260	0	0	0	1	0	6	260				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	128	0	0	0	1	0	5	128				
ASB15	142685	broad.mit.edu	37	7	123269120	123269120	+	Missense_Mutation	SNP	G	G	A	rs370081452	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:123269120G>A	ENST00000451558.1	+	12	1593	c.1072G>A	c.(1072-1074)Gtt>Att	p.V358I	ASB15_ENST00000434204.1_Missense_Mutation_p.V358I|ASB15_ENST00000540573.1_Missense_Mutation_p.V358I|ASB15_ENST00000451215.1_Missense_Mutation_p.V358I|ASB15_ENST00000275699.3_Missense_Mutation_p.V358I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	358					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.V358I(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GTATTTTGGCGTTTCTAATAA	0.458													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		21776	0.0		0.0	False		,,,				2504	0.0					ENST00000451558.1																			1	Substitution - Missense(1)	p.V358I(1)	endometrium(1)	breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1072-1074)Gtt>Att		ankyrin repeat and SOCS box containing 15		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	153.0	138.0	143.0		1072	5.3	0.9	7		143	0,8600		0,0,4300	no	missense	ASB15	NM_080928.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	358/589	123269120	1,13005	2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123269120G>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1072G>A	7.37:g.123269120G>A	ENSP00000397655:p.Val358Ile					ASB15_ENST00000434204.1_Missense_Mutation_p.V358I|ASB15_ENST00000275699.3_Missense_Mutation_p.V358I|ASB15_ENST00000540573.1_Missense_Mutation_p.V358I|ASB15_ENST00000451215.1_Missense_Mutation_p.V358I	p.V358I			Q8WXK1	ASB15_HUMAN			12	1593	+			358					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.1072G>A	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.523476	0.85600	2.27E-4	0.0	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	6.17	5.3	0.74995	Ankyrin repeat-containing domain (4);	0.082444	0.50627	N	0.000109	T	0.73001	0.3531	L	0.45137	1.4	0.58432	D	0.999998	D	0.89917	1.0	D	0.73380	0.98	T	0.75938	-0.3141	10	0.72032	D	0.01	.	15.8585	0.79005	0.0644:0.0:0.9356:0.0	.	358	Q8WXK1	ASB15_HUMAN	I	358;358;358;358;147;358	ENSP00000397655:V358I;ENSP00000390963:V358I;ENSP00000416433:V358I;ENSP00000438643:V358I;ENSP00000275699:V358I	ENSP00000275699:V358I	V	+	1	0	ASB15	123056356	1.000000	0.71417	0.950000	0.38849	0.882000	0.50991	7.633000	0.83260	1.644000	0.50603	-0.119000	0.15052	GTT		0.458	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			94	250	0	0	0	1	0	94	250				
SCAF8	22828	broad.mit.edu	37	6	155148314	155148314	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:155148314C>T	ENST00000367178.3	+	18	2656	c.2080C>T	c.(2080-2082)Ccg>Tcg	p.P694S	SCAF8_ENST00000417268.1_Missense_Mutation_p.P694S|RNU6-824P_ENST00000363724.1_RNA|SCAF8_ENST00000367186.4_Missense_Mutation_p.P760S	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	694	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AGGTTTCATGCCGCCTCCAGT	0.368																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(2080-2082)Ccg>Tcg		SR-related CTD-associated factor 8							130.0	135.0	133.0					6																	155148314		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155148314C>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2080C>T	6.37:g.155148314C>T	ENSP00000356146:p.Pro694Ser					SCAF8_ENST00000417268.1_Missense_Mutation_p.P694S|SCAF8_ENST00000367186.4_Missense_Mutation_p.P760S	p.P694S	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			18	2656	+			694			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.2080C>T	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802481	0.70682	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.53206	0.66;0.66;0.63	5.13	5.13	0.70059	.	0.452954	0.20053	U	0.100251	T	0.58495	0.2126	M	0.62723	1.935	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;0.996;1.0;0.996	D;D;D;P	0.80764	0.994;0.932;0.994;0.874	T	0.52313	-0.8592	10	0.30854	T	0.27	.	17.7112	0.88322	0.0:1.0:0.0:0.0	.	739;760;772;694	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	S	694;694;760	ENSP00000356146:P694S;ENSP00000413098:P694S;ENSP00000356154:P760S	ENSP00000356146:P694S	P	+	1	0	SCAF8	155190006	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	4.732000	0.62029	2.532000	0.85374	0.561000	0.74099	CCG		0.368	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		5	307	0	0	0	1	0	5	307				
GABRD	2563	broad.mit.edu	37	1	1956774	1956774	+	Splice_Site	DEL	C	C	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:1956774delC	ENST00000378585.4	+	3	266	c.183delC	c.(181-183)ggc>gg	p.G61fs		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	61					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V64fs*365(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	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)	TCCTTGCAGGCCCCCCCGTGA	0.647																																						ENST00000378585.4																			1	Insertion - Frameshift(1)	p.V64fs*365(1)	lung(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.e3-1		gamma-aminobutyric acid (GABA) A receptor, delta							70.0	76.0	74.0					1																	1956774		2203	4299	6502	SO:0001630	splice_region_variant	2563					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.chr1:1956774delC	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.182-1C>-	1.37:g.1956774delC							p.G61_splice	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	3	266	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	61					Q8N4N9	Splice_Site	DEL	ENST00000378585.4	37	c.181_splice	CCDS36.1																																																																																				0.647	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815	Frame_Shift_Del	7	913						7	913	---	---	---	---
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:38078467_38078469delTGC	ENST00000401069.1	-	7	1462_1464	c.750_752delGCA	c.(748-753)cagcaa>caa	p.250_251QQ>Q	RSPO1_ENST00000401068.1_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000401070.1_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000373059.1_In_Frame_Del_p.223_224QQ>Q|RSPO1_ENST00000356545.2_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000401071.2_In_Frame_Del_p.187_188QQ>Q	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(748-753)caa>ca		R-spondin 1			,,,	31,74,4091		12,0,7,2,70,2007					,,,	2.3	1.0			96	37,0,8137		16,0,5,0,0,4066	no	codingComplex,codingComplex,codingComplex,codingComplex	RSPO1	NM_001242910.1,NM_001242909.1,NM_001242908.1,NM_001038633.3	,,,	28,0,12,2,70,6073	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4527,2.5024,1.1479	,,,	,,,		68,74,12228				SO:0001651	inframe_deletion	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38078467_38078469delTGC	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.750_752delGCA	1.37:g.38078476_38078478delTGC	ENSP00000383847:p.Gln251del					RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del	p.QQ250del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			8	1537_1539	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	250					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	In_Frame_Del	DEL	ENST00000401069.1	37	c.750_752delGCA	CCDS41304.1																																																																																				0.621	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		7	609						7	609	---	---	---	---
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406																																						ENST00000372766.3																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(43-45)tfs		transmembrane and coiled-coil domains 2																																				SO:0001589	frameshift_variant	127391					integral to membrane		g.chr1:40713708_40713709delTC	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.43_44delTC	1.37:g.40713718_40713719delTC	ENSP00000361852:p.Ser15fs					TMCO2_ENST00000468258.1_Intron	p.S15fs	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		1	136_137	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	15						Frame_Shift_Del	DEL	ENST00000372766.3	37	c.43_44delTC	CCDS30684.1																																																																																				0.406	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740		12	621						12	621	---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57537235	57537235	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:57537235delT	ENST00000371231.1	-	5	552	c.518delA	c.(517-519)aagfs	p.K173fs	DAB1_ENST00000371236.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371230.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000414851.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371234.4_Frame_Shift_Del_p.K173fs|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000420954.2_Frame_Shift_Del_p.K173fs			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	173	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTTTGTGCCTTTTTTTCTAA	0.393																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(517-519)agfs		Dab, reelin signal transducer, homolog 1 (Drosophila)							225.0	198.0	207.0					1																	57537235		2203	4300	6503	SO:0001589	frameshift_variant	1600				cell differentiation|nervous system development			g.chr1:57537235delT	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.518delA	1.37:g.57537235delT	ENSP00000360275:p.Lys173fs					DAB1_ENST00000371230.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371231.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371234.4_Frame_Shift_Del_p.K173fs|DAB1_ENST00000414851.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000420954.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000485760.1_5'UTR	p.K173fs			O75553	DAB1_HUMAN			6	781	-			173			PID.		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Frame_Shift_Del	DEL	ENST00000371231.1	37	c.518delA																																																																																					0.393	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		8	332						8	332	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T	rs375424853		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:74575212_74575213insT	ENST00000395089.1	-	4	731_732	c.732_733insA	c.(730-735)aaacagfs	p.Q245fs	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.Q137fs|LRRIQ3_ENST00000354431.4_Frame_Shift_Ins_p.Q245fs			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621). {ECO:0000305}.						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(730-735)aaagcafs		leucine-rich repeats and IQ motif containing 3																																				SO:0001589	frameshift_variant	127255							g.chr1:74575212_74575213insT	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.733dupA	1.37:g.74575221_74575221dupT	ENSP00000378524:p.Gln245fs					LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000468759.1_5'UTR	p.A245fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			5	923_924	-			245	QQEKII -> TAGKNY (in Ref. 1; BAD18621).				A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Frame_Shift_Ins	INS	ENST00000395089.1	37	c.732_733insA	CCDS41350.1																																																																																				0.327	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		13	298						13	298	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	lincRNA	INS	-	-	TT	rs57730437|rs371916849		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:121137698_121137699insTT	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							CTACTTACATCTTTTTGTCTTT	0.441																																						ENST00000437515.1																			0																																																			0							g.chr1:121137698_121137699insTT																													1.37:g.121137701_121137702dupTT														0	329	-									RNA	INS	ENST00000417218.1	37																																																																																						0.441	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			7	76						7	76	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	lincRNA	DEL	CCA	CCA	-	rs28552466|rs61625886|rs374710813	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:121137791_121137793delCCA	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							ATTTCGCCCTCCACCGCCGCCGC	0.631																																						ENST00000437515.1																			0																																																			0							g.chr1:121137791_121137793delCCA																													1.37:g.121137791_121137793delCCA														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.631	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			9	28						9	28	---	---	---	---
RPRD2	23248	broad.mit.edu	37	1	150443776	150443776	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:150443776delT	ENST00000369068.4	+	11	2356	c.2352delT	c.(2350-2352)aatfs	p.N784fs	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Frame_Shift_Del_p.N758fs|RPRD2_ENST00000539519.1_Frame_Shift_Del_p.N758fs	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	784	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGCTCTCCAATTCTGTATCTA	0.507																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2272-2274)aafs		regulation of nuclear pre-mRNA domain containing 2							85.0	79.0	81.0					1																	150443776		1887	4110	5997	SO:0001589	frameshift_variant	23248						protein binding	g.chr1:150443776delT	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2352delT	1.37:g.150443776delT	ENSP00000358064:p.Asn784fs					RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Frame_Shift_Del_p.N784fs|RPRD2_ENST00000539519.1_Frame_Shift_Del_p.N758fs	p.N758fs			Q5VT52	RPRD2_HUMAN			10	2339	+			784			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Frame_Shift_Del	DEL	ENST00000369068.4	37	c.2274delT	CCDS44216.1																																																																																				0.507	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		106	100						106	100	---	---	---	---
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:150551492_150551494delTCC	ENST00000369026.2	-	1	572_574	c.513_515delGGA	c.(511-516)gaggac>gac	p.E171del	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_In_Frame_Del_p.E171del	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	171	PEST-like.				apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAACTCGTCCTCCTCCTCCT	0.635																																						ENST00000369026.2																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8						c.(511-516)gac>ga		myeloid cell leukemia sequence 1 (BCL2-related)			,,	70,4190		29,12,2089					,,	1.0	1.0			54	109,8145		46,17,4064	no	coding,coding,intron	MCL1	NM_182763.2,NM_021960.4,NM_001197320.1	,,	75,29,6153	A1A1,A1R,RR		1.3206,1.6432,1.4304	,,	,,		179,12335				SO:0001651	inframe_deletion	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150551492_150551494delTCC	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.513_515delGGA	1.37:g.150551501_150551503delTCC	ENSP00000358022:p.Glu171del					MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del	p.ED171del	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	572_574	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		171			PEST-like.		B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	In_Frame_Del	DEL	ENST00000369026.2	37	c.513_515delGGA	CCDS957.1																																																																																				0.635	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		9	409						9	409	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:155886422_155886423delCT	ENST00000368321.3	-	12	1569_1570	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_ENST00000368320.3_Frame_Shift_Del_p.R516fs	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	516							RNA binding (GO:0003723)	p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396																																						ENST00000368320.3																			1	Deletion - Frameshift(1)	p.R516fs*21(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1546-1548)gfs		KIAA0907																																				SO:0001589	frameshift_variant	22889							g.chr1:155886422_155886423delCT	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1546_1547delAG	1.37:g.155886432_155886433delCT	ENSP00000357304:p.Arg516fs					KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs	p.R516fs			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		12	1571_1572	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		516					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	ENST00000368321.3	37	c.1546_1547delAG	CCDS30885.1																																																																																				0.396	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		13	745						13	745	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161044057	161044059	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:161044057_161044059delCAC	ENST00000368012.3	-	6	1407_1409	c.1105_1107delGTG	c.(1105-1107)gtgdel	p.V369del	PVRL4_ENST00000486694.1_5'Flank|PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	369					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGGACATGAGCACCACCACCACC	0.571																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1105-1107)del		poliovirus receptor-related 4																																				SO:0001651	inframe_deletion	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161044057_161044059delCAC	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1105_1107delGTG	1.37:g.161044066_161044068delCAC	ENSP00000356991:p.Val369del					PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	p.V369del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		6	1407_1409	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		369					B4DQW3|Q96K15	In_Frame_Del	DEL	ENST00000368012.3	37	c.1105_1107delGTG	CCDS1216.1																																																																																				0.571	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		11	524						11	524	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.450	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		9	388						9	388	---	---	---	---
GPR37L1	9283	broad.mit.edu	37	1	202097525	202097527	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:202097525_202097527delCTG	ENST00000367282.5	+	2	1393_1395	c.1287_1289delCTG	c.(1285-1290)gactgc>gac	p.C436del		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	436	Cys-rich.				negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCTTCCTGGActgctgctgctgc	0.626																																						ENST00000367282.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(1285-1290)gac>ga		G protein-coupled receptor 37 like 1				2,128,4136		0,0,2,9,110,2012						3.1	1.0			46	5,240,8007		0,0,5,10,220,3891	no	codingComplex	GPR37L1	NM_004767.3		0,0,7,19,330,5903	A1A1,A1A2,A1R,A2A2,A2R,RR		2.969,3.0474,2.9957				7,368,12143				SO:0001651	inframe_deletion	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202097525_202097527delCTG	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.1287_1289delCTG	1.37:g.202097534_202097536delCTG	ENSP00000356251:p.Cys436del						p.DC429del	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			2	1393_1395	+			429			Cys-rich.		B2R7M9|Q5SXP7|Q86VP7	In_Frame_Del	DEL	ENST00000367282.5	37	c.1287_1289delCTG	CCDS1420.1																																																																																				0.626	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		8	118						8	118	---	---	---	---
SYT2	127833	broad.mit.edu	37	1	202573647	202573649	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:202573647_202573649delTTC	ENST00000367267.1	-	3	471_473	c.279_281delGAA	c.(277-282)aagaac>aac	p.K93del	SYT2_ENST00000367268.4_In_Frame_Del_p.K93del|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	93					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.N94S(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ctccttcttgttcttcttcttct	0.532																																						ENST00000367267.1																			1	Substitution - Missense(1)	p.N94S(1)	large_intestine(1)	NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(277-282)aac>aa		synaptotagmin II	Botulinum Toxin Type B(DB00042)																																			SO:0001651	inframe_deletion	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202573647_202573649delTTC	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.279_281delGAA	1.37:g.202573656_202573658delTTC	ENSP00000356236:p.Lys93del					SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del|RP11-569A11.1_ENST00000428573.1_RNA	p.KN93del	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		3	471_473	-			93					Q496K5|Q8NBE5	In_Frame_Del	DEL	ENST00000367267.1	37	c.279_281delGAA	CCDS1427.1																																																																																				0.532	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		7	389						7	389	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2092-2094)cafs		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)			61,4205		23,15,2095	67.0	69.0	68.0			3.8	1.0	1		69	81,8173		35,11,4081	no	frameshift	MTR	NM_000254.2		58,26,6176	A1A1,A1R,RR		0.9813,1.4299,1.1342			237024474	142,12378	2203	4300	6503	SO:0001589	frameshift_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024474delA	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2093delA	1.37:g.237024474delA	ENSP00000355536:p.Gln698fs					MTR_ENST00000535889.1_Intron	p.Q698fs	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2487	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	698			B12-binding N-terminal.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Frame_Shift_Del	DEL	ENST00000366577.5	37	c.2093delA	CCDS1614.1																																																																																				0.308	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		13	399						13	399	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-	rs539079430		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	117	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(349-354)agt>ag		additional sex combs like 2 (Drosophila)																																				SO:0001651	inframe_deletion	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022304_26022306delCTG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.351_353delCAG	2.37:g.26022313_26022315delCTG	ENSP00000391447:p.Ser118del					ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR	p.SS117del			Q76L83	ASXL2_HUMAN			5	644_646	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	In_Frame_Del	DEL	ENST00000435504.4	37	c.351_353delCAG																																																																																					0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		9	560						9	560	---	---	---	---
RGPD3	653489	broad.mit.edu	37	2	107041534	107041534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:107041534delA	ENST00000409886.3	-	20	2976	c.2889delT	c.(2887-2889)tttfs	p.F963fs	RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	963					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGTTTGGCCAAAAATCACAC	0.398																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2887-2889)ttfs		RANBP2-like and GRIP domain containing 3							33.0	53.0	47.0					2																	107041534		692	1582	2274	SO:0001589	frameshift_variant	653489				intracellular transport		binding	g.chr2:107041534delA		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2889delT	2.37:g.107041534delA	ENSP00000386588:p.Phe963fs					RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	2976	-			963					B8ZZM4	Frame_Shift_Del	DEL	ENST00000409886.3	37	c.2889delT	CCDS46379.1																																																																																				0.398	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		9	1679						9	1679	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			8	42						8	42	---	---	---	---
CRYGA	1418	broad.mit.edu	37	2	209025576	209025577	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:209025576_209025577insC	ENST00000304502.4	-	3	495_496	c.476_477insG	c.(475-477)ggtfs	p.G159fs		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	159	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		TGGCATCTGCACCCCCCCAGTC	0.53																																						ENST00000304502.4																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12						c.(475-477)ggcfs		crystallin, gamma A																																				SO:0001589	frameshift_variant	1418							g.chr2:209025576_209025577insC		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.477dupG	2.37:g.209025583_209025583dupC	ENSP00000302105:p.Gly159fs						p.G159fs	NM_014617.3	NP_055432.2				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	3	495_496	-								Q53ST5	Frame_Shift_Ins	INS	ENST00000304502.4	37	c.476_477insG	CCDS33367.1																																																																																				0.530	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		7	783						7	783	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	GCT	-	rs375721540|rs574153391		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:218712887_218712889delGCT	ENST00000171887.4	-	17	2428_2430	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_In_Frame_Del_p.Q659del|TNS1_ENST00000419504.1_In_Frame_Del_p.Q659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.66																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1975-1980)cct>c		tensin 1																																				SO:0001651	inframe_deletion	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712887_218712889delGCT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1976_1978delAGC	2.37:g.218712896_218712898delGCT	ENSP00000171887:p.Gln659del					TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del|TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del	p.QP659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2428_2430	-		Renal(207;0.0483)|Lung NSC(271;0.213)	659			Gln-rich.		Q4ZG71|Q6IPI5	In_Frame_Del	DEL	ENST00000171887.4	37	c.1976_1978delAGC	CCDS2407.1																																																																																				0.660	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		8	107						8	107	---	---	---	---
USP40	55230	broad.mit.edu	37	2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T	rs572063854		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:234394236_234394237insT	ENST00000427112.2	-	29	3476_3477	c.3441_3442insA	c.(3439-3444)aaacaafs	p.Q1148fs	USP40_ENST00000251722.6_Frame_Shift_Ins_p.Q1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.Q1160fs|USP40_ENST00000496298.1_5'UTR			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3439-3444)aaaagafs		ubiquitin specific peptidase 40				3,3499		0,3,1748						4.9	1.0			69	11,7805		1,9,3898	no	frameshift	USP40	NM_018218.2		1,12,5646	A1A1,A1R,RR		0.1407,0.0857,0.1237				14,11304				SO:0001589	frameshift_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234394236_234394237insT	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3442dupA	2.37:g.234394245_234394245dupT	ENSP00000387898:p.Gln1148fs					USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs	p.R1148fs			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	30	3558_3559	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	1148					Q6NX38|Q70EL0	Frame_Shift_Ins	INS	ENST00000427112.2	37	c.3441_3442insA	CCDS46547.1																																																																																				0.337	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		8	239						8	239	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			8	454						8	454	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs			Q68DE3	K2018_HUMAN	KIAA2018	148						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(439-441)ttfs		KIAA2018							90.0	87.0	88.0					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380090delT	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	849	-			148					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.439delA	CCDS43133.1																																																																																				0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		7	398						7	398	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gat>ga		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del					DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	p.DD541del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			7	364						7	364	---	---	---	---
ZNF876P	642280	broad.mit.edu	37	4	217874	217874	+	RNA	DEL	G	G	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:217874delG	ENST00000356347.3	+	0	172				AC079140.1_ENST00000516807.1_RNA	NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ggctgcttcagggagcacagc	0.537																																						ENST00000356347.3																			0																																																			0							g.chr4:217874delG	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.217874delG								NR_027481.1						0	172	+									RNA	DEL	ENST00000356347.3	37																																																																																						0.537	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		11	551						11	551	---	---	---	---
GAK	2580	broad.mit.edu	37	4	845556	845556	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:845556delC	ENST00000314167.4	-	25	3600	c.3490delG	c.(3490-3492)gtcfs	p.V1164fs	GAK_ENST00000511163.1_Frame_Shift_Del_p.V1085fs|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1164					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGTGCGCGGACCCCCCGCTCC	0.592																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3490-3492)tcfs		cyclin G associated kinase							37.0	42.0	40.0					4																	845556		2203	4293	6496	SO:0001589	frameshift_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:845556delC	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3490delG	4.37:g.845556delC	ENSP00000314499:p.Val1164fs					GAK_ENST00000511163.1_Frame_Shift_Del_p.V1085fs|GAK_ENST00000509566.1_5'UTR	p.V1164fs	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	25	3600	-			1164					Q5U4P5|Q9BVY6	Frame_Shift_Del	DEL	ENST00000314167.4	37	c.3490delG	CCDS3340.1																																																																																				0.592	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		8	3116						8	3116	---	---	---	---
DGKQ	1609	broad.mit.edu	37	4	956369	956369	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:956369delC	ENST00000273814.3	-	18	2141	c.2068delG	c.(2068-2070)gcgfs	p.A690fs	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	690	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTGTAGCCCGCCCCCCAGCGG	0.657																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2068-2070)cgfs		diacylglycerol kinase, theta 110kDa							43.0	42.0	42.0					4																	956369		2198	4299	6497	SO:0001589	frameshift_variant	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:956369delC	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2068delG	4.37:g.956369delC	ENSP00000273814:p.Ala690fs						p.A690fs	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		18	2141	-			690			DAGKc.		Q6P3W4	Frame_Shift_Del	DEL	ENST00000273814.3	37	c.2068delG	CCDS3342.1																																																																																				0.657	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			8	2126						8	2126	---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1936885	1936885	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:1936885delA	ENST00000382895.3	+	9	2001	c.1570delA	c.(1570-1572)aaafs	p.K525fs	WHSC1_ENST00000503128.1_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000382891.5_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000514045.1_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000508803.1_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000420906.2_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000398261.1_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000382892.2_Frame_Shift_Del_p.K525fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	525					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGTAAATGGGAAAAAAAGAAA	0.463			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(1570-1572)aafs		Wolf-Hirschhorn syndrome candidate 1							97.0	94.0	95.0					4																	1936885		2203	4300	6503	SO:0001589	frameshift_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1936885delA	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1570delA	4.37:g.1936885delA	ENSP00000372351:p.Lys525fs					WHSC1_ENST00000420906.2_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000382892.2_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000382891.5_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000514045.1_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000508803.1_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000382895.3_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000398261.1_Frame_Shift_Del_p.K525fs	p.K525fs			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	7	1777	+		all_epithelial(65;1.34e-05)	525					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Frame_Shift_Del	DEL	ENST00000382895.3	37	c.1570delA	CCDS33940.1																																																																																				0.463	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		9	902						9	902	---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1980558	1980559	+	Frame_Shift_Ins	INS	-	-	C	rs199956960		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:1980558_1980559insC	ENST00000382895.3	+	24	4451_4452	c.4020_4021insC	c.(4021-4023)cccfs	p.P1341fs	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.P1341fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.P1341fs|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.P689fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.P1341fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1341					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGACTGAGAAGCCCCCCCCAGA	0.678			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(4018-4023)aaccccfs		Wolf-Hirschhorn syndrome candidate 1			,,,	38,4226		0,38,2094					,,,	-5.1	0.6		dbSNP_126	23	49,8203		0,49,4077	no	frameshift,frameshift,frameshift,frameshift	WHSC1	NM_133335.3,NM_133331.2,NM_133330.2,NM_001042424.2	,,,	0,87,6171	A1A1,A1R,RR		0.5938,0.8912,0.6951	,,,	,,,		87,12429				SO:0001589	frameshift_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1980558_1980559insC	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.4028dupC	4.37:g.1980566_1980566dupC	ENSP00000372351:p.Pro1341fs					WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.NP688fs|WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000482415.2_3'UTR	p.NP1340fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	24	4451_4452	+		all_epithelial(65;1.34e-05)	1340					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Frame_Shift_Ins	INS	ENST00000382895.3	37	c.4020_4021insC	CCDS33940.1																																																																																				0.678	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		7	573						7	573	---	---	---	---
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-	rs376676164		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:15995680delT	ENST00000510224.1	-	16	1945	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000505450.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs			O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(1669-1671)atfs		prominin 1							189.0	187.0	188.0					4																	15995680		1901	4120	6021	SO:0001589	frameshift_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15995680delT	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1697delA	4.37:g.15995680delT	ENSP00000426809:p.Asn566fs					PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs	p.N557fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			15	2282	-			566					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Frame_Shift_Del	DEL	ENST00000510224.1	37	c.1670delA	CCDS47029.1																																																																																				0.428	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		8	277						8	277	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		2	Deletion - Frameshift(2)	p.R487fs*3(2)	large_intestine(1)|kidney(1)	large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1447-1449)afs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319248_54319249delAG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs					FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs	p.R483fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1641_1642	+			483			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1447_1448delAG	CCDS3491.1																																																																																				0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		15	215						15	215	---	---	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65349867	65349867	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:65349867delA	ENST00000284037.5	+	21	3110	c.2721delA	c.(2719-2721)ggafs	p.G907fs	ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	907					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTGTTGATGGAAAAAATATAG	0.378																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(2719-2721)ggfs		erbb2 interacting protein							571.0	551.0	558.0					5																	65349867		2203	4300	6503	SO:0001589	frameshift_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65349867delA		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2721delA	5.37:g.65349867delA	ENSP00000284037:p.Gly907fs					ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs	p.G907fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3110	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	907					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Frame_Shift_Del	DEL	ENST00000284037.5	37	c.2721delA	CCDS58953.1																																																																																				0.378	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		7	1346						7	1346	---	---	---	---
CD14	929	broad.mit.edu	37	5	140012532	140012534	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:140012532_140012534delGCA	ENST00000302014.6	-	2	664_666	c.35_37delTGC	c.(34-39)ctgccg>ccg	p.L12del	CD14_ENST00000401743.2_In_Frame_Del_p.L12del	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	12					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)	p.P13S(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACCAGCGGCAGCAGCAGCAG	0.635																																						ENST00000302014.6																			1	Substitution - Missense(1)	p.P13S(1)	endometrium(1)	endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(34-39)ccg>c		CD14 molecule																																				SO:0001651	inframe_deletion	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140012532_140012534delGCA		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.35_37delTGC	5.37:g.140012541_140012543delGCA	ENSP00000304236:p.Leu12del					CD14_ENST00000401743.2_In_Frame_Del_p.LP12del	p.LP12del	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	664_666	-			12					Q53XT5|Q96FR6|Q96L99|Q9UNS3	In_Frame_Del	DEL	ENST00000302014.6	37	c.35_37delTGC	CCDS4232.1																																																																																				0.635	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		7	173						7	173	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(454-459)agc>a		T-cell immunoglobulin and mucin domain containing 4																																				SO:0001651	inframe_deletion	91937					integral to membrane		g.chr5:156378745_156378747delTTG	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.455_457delCAA	5.37:g.156378754_156378756delTTG	ENSP00000274532:p.Thr152del					TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	511_513	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	152			Thr-rich.		B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	c.455_457delCAA	CCDS4332.1																																																																																				0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		7	1124						7	1124	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000375356.3_5'Flank|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000337523.5_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			9	653						9	653	---	---	---	---
CYP21A1P	1590	broad.mit.edu	37	6	31975223	31975224	+	5'Flank	INS	-	-	T	rs369404825		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	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				14	1288						14	1288	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		7	602						7	602	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)aaafs		TTK protein kinase																																				SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751896_80751897insA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs					TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs	p.K850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3377_3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS	ENST00000369798.2	37	c.2548_2549insA	CCDS4993.1																																																																																				0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			8	354						8	354	---	---	---	---
ICA1	3382	broad.mit.edu	37	7	8198251	8198251	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:8198251delT	ENST00000402384.3	-	7	877	c.611delA	c.(610-612)aacfs	p.N204fs	ICA1_ENST00000406470.2_Frame_Shift_Del_p.N204fs|ICA1_ENST00000422063.2_Frame_Shift_Del_p.N204fs|ICA1_ENST00000401396.1_Frame_Shift_Del_p.N192fs|ICA1_ENST00000265577.7_Frame_Shift_Del_p.N203fs|ICA1_ENST00000407906.1_Frame_Shift_Del_p.N204fs|ICA1_ENST00000396675.3_Frame_Shift_Del_p.N204fs			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	204	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.N204fs*5(3)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTTGTCAAAGTTTTTTTTTGC	0.378																																						ENST00000402384.3																			3	Deletion - Frameshift(3)	p.N204fs*5(3)	large_intestine(3)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(610-612)acfs		islet cell autoantigen 1, 69kDa							143.0	125.0	131.0					7																	8198251		2203	4300	6503	SO:0001589	frameshift_variant	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8198251delT		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.611delA	7.37:g.8198251delT	ENSP00000385570:p.Asn204fs					ICA1_ENST00000396675.3_Frame_Shift_Del_p.N204fs|ICA1_ENST00000407906.1_Frame_Shift_Del_p.N204fs|ICA1_ENST00000422063.2_Frame_Shift_Del_p.N204fs|ICA1_ENST00000265577.7_Frame_Shift_Del_p.N203fs|ICA1_ENST00000406470.2_Frame_Shift_Del_p.N204fs|ICA1_ENST00000401396.1_Frame_Shift_Del_p.N192fs	p.N204fs			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	7	877	-		Ovarian(82;0.0612)	204			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Frame_Shift_Del	DEL	ENST00000402384.3	37	c.611delA	CCDS34602.1																																																																																				0.378	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		8	313						8	313	---	---	---	---
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCATGGGACATTTTTTTTCGC	0.577																																						ENST00000222673.5																			1	Deletion - Frameshift(1)	p.R81fs*19(1)	breast(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(232-234)atfs		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						127.0	121.0	123.0					7																	44684936		2203	4300	6503	SO:0001589	frameshift_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44684936delT	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.233delT	7.37:g.44684936delT	ENSP00000222673:p.Ile78fs					OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs	p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			3	275	+			78					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Del	DEL	ENST00000222673.5	37	c.233delT	CCDS34627.1																																																																																				0.577	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			8	465						8	465	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685489	72685489	+	RNA	DEL	A	A	-	rs555307029	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:72685489delA	ENST00000425256.1	-	0	120									GTF2I repeat domain containing 2 pseudogene 1																		actccatctcaaaaaaaaaaa	0.443													|||unknown(NO_COVERAGE)	1946	0.388578	0.4153	0.4006	5008	,	,		14272	0.4107		0.3658	False		,,,				2504	0.3446					ENST00000425256.1																			0																																																			0							g.chr7:72685489delA	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72685489delA								NR_002164.1						0	120	-									RNA	DEL	ENST00000425256.1	37																																																																																						0.443	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		10	102						10	102	---	---	---	---
PRSS1	5644	broad.mit.edu	37	7	142458419	142458421	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:142458419_142458421delTGA	ENST00000311737.7	+	2	60_62	c.54_56delTGA	c.(52-57)tttgat>ttt	p.D22del	PRSS1_ENST00000486171.1_In_Frame_Del_p.D22del	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	22			D -> G (in PCTT; increased rate of activation). {ECO:0000269|PubMed:10930381}.		cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CTGCCCCCTTTGATGATGATGAC	0.527																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	GRCh37	CM035652	PRSS1	M		c.(52-57)ttt>tt		protease, serine, 1 (trypsin 1)																																				SO:0001651	inframe_deletion	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142458419_142458421delTGA	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.54_56delTGA	7.37:g.142458428_142458430delTGA	ENSP00000308720:p.Asp22del					PRSS1_ENST00000311737.7_In_Frame_Del_p.FD18del	p.FD18del			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		2	71_73	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	18					A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	In_Frame_Del	DEL	ENST00000311737.7	37	c.54_56delTGA	CCDS5872.1																																																																																				0.527	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			148	956						148	956	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C	rs372758218|rs376236342		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TCCCAAGGTGGGGGGCTGAGGA	0.564																																						ENST00000603901.1																			0																																																			0							g.chr7:142481996_142481997insC			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481996_142481997insC								NR_001296.3						0	591	+									RNA	INS	ENST00000603901.1	37																																																																																						0.564	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		9	37						9	37	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151874148	151874148	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:151874148delT	ENST00000262189.6	-	38	8608	c.8390delA	c.(8389-8391)aagfs	p.K2797fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.K2797fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2797				K -> R (in Ref. 1; AAK00583). {ECO:0000305}.	histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K2797fs*26(20)									TTCTTGTTCCTTTTTTTTTGG	0.348																																						ENST00000355193.2																			20	Deletion - Frameshift(20)	p.K2797fs*26(20)	large_intestine(18)|liver(2)								c.(8389-8391)agfs		lysine (K)-specific methyltransferase 2C							135.0	130.0	132.0					7																	151874148		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151874148delT	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8390delA	7.37:g.151874148delT	ENSP00000262189:p.Lys2797fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.K2797fs	p.K2797fs							38	8608	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.8390delA	CCDS5931.1																																																																																				0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			16	297						16	297	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7191540	7191541	+	lincRNA	DEL	CA	CA	-	rs376658666		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		GGGGTGcacgcacacacacaca	0.53																																						ENST00000606573.1																			0																																																			0							g.chr8:7191540_7191541delCA			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7191550_7191551delCA														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.530	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		13	132						13	132	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22020159	22020161	+	5'Flank	DEL	GTG	GTG	-	rs183533911	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:22020159_22020161delGTG	ENST00000306385.5	+	0	0				BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|BMP1_ENST00000397814.3_5'Flank|SFTPC_ENST00000521315.1_In_Frame_Del_p.V44del|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000520605.1_Intron|BMP1_ENST00000354870.5_5'Flank|BMP1_ENST00000306349.8_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCTTCTTATCGTGGTGGTGGTGG	0.601																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(115-117)del		surfactant protein C																																				SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020159_22020161delGTG		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020168_22020170delGTG	Exception_encountered					SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del	p.V44del			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	147_149	+			44					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	In_Frame_Del	DEL	ENST00000306385.5	37	c.115_117delGTG	CCDS6026.1																																																																																				0.601	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		10	527						10	527	---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aaafs	p.K1129fs	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3385-3387)aafs		RAB11 family interacting protein 1 (class I)							134.0	143.0	140.0					8																	37728933		2203	4300	6503	SO:0001589	frameshift_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728933delT	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3387delA	8.37:g.37728933delT	ENSP00000331342:p.Lys1129fs		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron	p.K1129fs	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3399	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1129					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Frame_Shift_Del	DEL	ENST00000330843.4	37	c.3387delA	CCDS34882.1																																																																																				0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		8	680						8	680	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-	rs139076845		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	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	545						11	545	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(766-768)del		thymocyte selection-associated high mobility group box																																				SO:0001651	inframe_deletion	9760					nucleus	DNA binding	g.chr8:59750796_59750798delCTT		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.766_768delAAG	8.37:g.59750805_59750807delCTT	ENSP00000354842:p.Lys256del						p.K256del	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			5	986_988	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	256					Q96AV5	In_Frame_Del	DEL	ENST00000361421.1	37	c.766_768delAAG	CCDS34897.1																																																																																				0.453	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		8	484						8	484	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:124368685delA	ENST00000287394.5	-	13	1697	c.1590delT	c.(1588-1590)tttfs	p.F530fs	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	530					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(1588-1590)ttfs		ATPase family, AAA domain containing 2							79.0	66.0	71.0					8																	124368685		2203	4300	6503	SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124368685delA	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1590delT	8.37:g.124368685delA	ENSP00000287394:p.Phe530fs					ATAD2_ENST00000521903.1_5'UTR	p.F530fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		13	1697	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		530					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	ENST00000287394.5	37	c.1590delT	CCDS6343.1																																																																																				0.413	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		9	226						9	226	---	---	---	---
GRHPR	9380	broad.mit.edu	37	9	37424907	37424908	+	Frame_Shift_Ins	INS	-	-	G	rs369721488|rs150805048		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:37424907_37424908insG	ENST00000318158.6	+	2	234_235	c.149_150insG	c.(148-153)gcggggfs	p.AG50fs	GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000607784.1_Frame_Shift_Ins_p.AG50fs	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	50					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CGAGGTGTGGCGGGGGCCCACG	0.658																																						ENST00000607784.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(148-150)gggfs		glyoxylate reductase/hydroxypyruvate reductase				127,75,4062		0,0,127,0,75,1930						1.0	0.0			47	270,115,7869		0,0,270,0,115,3742	no	codingComplex	GRHPR	NM_012203.1		0,0,397,0,190,5672	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6644,4.7373,4.6892				397,190,11931				SO:0001589	frameshift_variant	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37424907_37424908insG	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.154dupG	9.37:g.37424912_37424912dupG	ENSP00000313432:p.Ala50fs					GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Frame_Shift_Ins_p.G50fs	p.G50fs			Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	2	154_155	+			50					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Frame_Shift_Ins	INS	ENST00000318158.6	37	c.149_150insG	CCDS6609.1																																																																																				0.658	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		7	257						7	257	---	---	---	---
HABP4	22927	broad.mit.edu	37	9	99250415	99250416	+	Frame_Shift_Ins	INS	-	-	C	rs372277294		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:99250415_99250416insC	ENST00000375249.4	+	7	1119_1120	c.1044_1045insC	c.(1045-1047)cccfs	p.P349fs	HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Frame_Shift_Ins_p.P244fs	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				TTTTCCGGAAACCCGCCAATGA	0.53																																						ENST00000375249.4																			0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(1042-1047)aaccgcfs		hyaluronan binding protein 4																																				SO:0001589	frameshift_variant	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99250415_99250416insC	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.1047dupC	9.37:g.99250418_99250418dupC	ENSP00000364398:p.Pro349fs					HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Frame_Shift_Ins_p.R244fs	p.R349fs	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN			7	1119_1120	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	349						Frame_Shift_Ins	INS	ENST00000375249.4	37	c.1044_1045insC	CCDS6719.1																																																																																				0.530	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		9	546						9	546	---	---	---	---
CEL	1056	broad.mit.edu	37	9	135941982	135941982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:135941982delG	ENST00000372080.4	+	5	629	c.613delG	c.(613-615)gggfs	p.G206fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	203					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGCGGCCTTCGGGGGGGACCC	0.642																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(613-615)ggfs		carboxyl ester lipase							95.0	106.0	102.0					9																	135941982		1941	4145	6086	SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135941982delG	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.613delG	9.37:g.135941982delG	ENSP00000361151:p.Gly206fs					CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	p.G206fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	5	629	+			203					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Del	DEL	ENST00000372080.4	37	c.613delG	CCDS43896.1																																																																																				0.642	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			9	695						9	695	---	---	---	---
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-	rs571278001|rs145591109		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:139734633_139734635delAGA	ENST00000311502.7	+	14	2194_2196	c.1958_1960delAGA	c.(1957-1962)gagaag>gag	p.K660del	RABL6_ENST00000357466.2_Intron|RABL6_ENST00000371675.3_In_Frame_Del_p.K545del|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.K661del			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	660	Interaction with CDKN2A.|Lys-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CCCTCTaaggagaagaagaagaa	0.571																																						ENST00000371675.3																			0											c.(1612-1617)gag>g		RAB, member RAS oncogene family-like 6			,	149,3501		4,141,1680					,	2.6	1.0		dbSNP_134	65	433,7429		12,409,3510	no	coding,coding	C9orf86	NM_024718.4,NM_001173988.1	,	16,550,5190	A1A1,A1R,RR		5.5075,4.0822,5.0556	,	,		582,10930				SO:0001651	inframe_deletion	55684							g.chr9:139734633_139734635delAGA	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1958_1960delAGA	9.37:g.139734642_139734644delAGA	ENSP00000311134:p.Lys660del					RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del	p.EK538del							14	2498_2500	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	In_Frame_Del	DEL	ENST00000311502.7	37	c.1613_1615delAGA	CCDS48058.1																																																																																				0.571	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		12	255						12	255	---	---	---	---
ARID5B	84159	broad.mit.edu	37	10	63852298	63852298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:63852298delA	ENST00000279873.7	+	10	3486	c.3076delA	c.(3076-3078)aaafs	p.K1027fs	ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1027					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GATTGCAGGGAAAAAGGCCCG	0.607																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(3076-3078)aafs		AT rich interactive domain 5B (MRF1-like)							66.0	75.0	72.0					10																	63852298		2203	4300	6503	SO:0001589	frameshift_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63852298delA	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3076delA	10.37:g.63852298delA	ENSP00000279873:p.Lys1027fs					ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs	p.K1027fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	3486	+	Prostate(12;0.016)|all_hematologic(501;0.215)		1027					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Frame_Shift_Del	DEL	ENST00000279873.7	37	c.3076delA	CCDS31208.1																																																																																				0.607	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		7	453						7	453	---	---	---	---
PNLIP	5406	broad.mit.edu	37	10	118318720	118318721	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:118318720_118318721insA	ENST00000369221.2	+	10	1013_1014	c.985_986insA	c.(985-987)gatfs	p.D329fs		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	329					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TCACTATGCTGATAGATATCCT	0.401																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(985-987)tagfs		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)																																			SO:0001589	frameshift_variant	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118318720_118318721insA	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.986dupA	10.37:g.118318721_118318721dupA	ENSP00000358223:p.Asp329fs						p.*329fs	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	10	1013_1014	+			329					Q5VSQ2	Frame_Shift_Ins	INS	ENST00000369221.2	37	c.985_986insA	CCDS7594.1																																																																																				0.401	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		124	270						124	270	---	---	---	---
INPP5F	22876	broad.mit.edu	37	10	121551520	121551521	+	Frame_Shift_Ins	INS	-	-	GAGG			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:121551520_121551521insGAGG	ENST00000361976.2	+	5	750_751	c.584_585insGAGG	c.(583-588)gagaggfs	p.-196fs	INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.-196fs|INPP5F_ENST00000369081.1_Frame_Shift_Ins_p.-100fs	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F						cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCACTGGGGAGAGGGACGGTC	0.5																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(583-585)gagfs		inositol polyphosphate-5-phosphatase F																																				SO:0001589	frameshift_variant	22876						phosphoric ester hydrolase activity	g.chr10:121551520_121551521insGAGG	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.585_588dupGAGG	10.37:g.121551521_121551524dupGAGG	ENSP00000354519:p.Arg196fs					INPP5F_ENST00000369081.1_Frame_Shift_Ins_p.E99fs|INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.E195fs	p.E195fs	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	5	750_751	+		Lung NSC(174;0.109)|all_lung(145;0.142)	195			SAC.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Frame_Shift_Ins	INS	ENST00000361976.2	37	c.584_585insGAGG	CCDS7616.1																																																																																				0.500	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		129	444						129	444	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1174-1176)del		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_ENST00000368854.3_5'UTR	p.L392del	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1328_1330	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		8	657						8	657	---	---	---	---
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.65																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(262-264)del		tetraspanin 4																																				SO:0001651	inframe_deletion	0				protein complex assembly	integral to plasma membrane		g.chr11:864443_864445delCTG	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.262_264delCTG	11.37:g.864452_864454delCTG	ENSP00000380553:p.Leu92del					TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del	p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	521_523	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	In_Frame_Del	DEL	ENST00000397404.1	37	c.262_264delCTG	CCDS7721.1																																																																																				0.650	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			11	453						11	453	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:3720389delT	ENST00000324932.7	-	25	4352	c.3932delA	c.(3931-3933)aacfs	p.N1311fs	NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000488828.1_5'Flank	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1328					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACAGGGCTGTTTTTTTGGGT	0.512			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3931-3933)acfs		nucleoporin 98kDa							176.0	183.0	180.0					11																	3720389		2201	4298	6499	SO:0001589	frameshift_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3720389delT	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3932delA	11.37:g.3720389delT	ENSP00000316032:p.Asn1311fs					NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs	p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	25	4352	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1328					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Frame_Shift_Del	DEL	ENST00000324932.7	37	c.3932delA	CCDS7746.1																																																																																				0.512	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		11	914						11	914	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61183765	61183767	+	In_Frame_Del	DEL	AGG	AGG	-	rs370932425		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:61183765_61183767delAGG	ENST00000394888.4	-	6	947_949	c.775_777delCCT	c.(775-777)cctdel	p.P259del	CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del|CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del|CPSF7_ENST00000340437.4_In_Frame_Del_p.P302del	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	259	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						AGTGGATACCAGGAGGAGGAGGA	0.611																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(904-906)del		cleavage and polyadenylation specific factor 7, 59kDa																																				SO:0001651	inframe_deletion	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183765_61183767delAGG		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.775_777delCCT	11.37:g.61183774_61183776delAGG	ENSP00000378352:p.Pro259del					CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del|CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del|CPSF7_ENST00000394888.4_In_Frame_Del_p.P259del	p.P302del	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			6	984_986	-			259			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	In_Frame_Del	DEL	ENST00000394888.4	37	c.904_906delCCT	CCDS44619.1																																																																																				0.611	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		8	206						8	206	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639|rs74740497|rs201238608	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	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		7	679						7	679	---	---	---	---
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:57422572_57422573insT	ENST00000442789.2	-	29	3385_3386	c.3098_3099insA	c.(3097-3099)aagfs	p.K1033fs	TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.K1033fs|MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.K871fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AATGACTCCCCTTTTTTTTGTA	0.559																																						ENST00000442789.2																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(3097-3099)aggfs		myosin IA																																				SO:0001589	frameshift_variant	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57422572_57422573insT	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.3099dupA	12.37:g.57422580_57422580dupT	ENSP00000393392:p.Lys1033fs					MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs	p.R1033fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			29	3385_3386	-			1033					Q9UQD7	Frame_Shift_Ins	INS	ENST00000442789.2	37	c.3098_3099insA	CCDS8929.1																																																																																				0.559	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		7	360						7	360	---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		7	295						7	295	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518337	108518338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr13:108518337_108518338insC	ENST00000375915.2	-	1	745_746	c.607_608insG	c.(607-609)gacfs	p.D203fs		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	203						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCTGCCCGTCCCCCCCGGCC	0.609																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(607-609)cggfs		family with sequence similarity 155, member A																																				SO:0001589	frameshift_variant	728215					integral to membrane	binding	g.chr13:108518337_108518338insC	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.608dupG	13.37:g.108518344_108518344dupC	ENSP00000365080:p.Asp203fs						p.R203fs	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	745_746	-			203					B2RUV1|B7Z334	Frame_Shift_Ins	INS	ENST00000375915.2	37	c.607_608insG	CCDS32006.1																																																																																				0.609	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		7	420						7	420	---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-	rs528863117		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)accctc>acc	p.L11del	LRP10_ENST00000546834.1_In_Frame_Del_p.L11del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	11					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.67																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(13-18)acc>ac		low density lipoprotein receptor-related protein 10																																				SO:0001651	inframe_deletion	26020				endocytosis	coated pit|integral to membrane		g.chr14:23341527_23341529delCCT	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.15_17delCCT	14.37:g.23341536_23341538delCCT	ENSP00000352601:p.Leu11del					LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	1	706_708	+	all_cancers(95;4.69e-05)		5					A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	In_Frame_Del	DEL	ENST00000359591.4	37	c.15_17delCCT	CCDS9578.1																																																																																				0.670	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			7	322						7	322	---	---	---	---
IGHV3-48	28424	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-	rs199815306|rs144292224	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	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		7	1159						7	1159	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23283336	23283337	+	RNA	INS	-	-	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:23283336_23283337insT	ENST00000560464.1	-	0	5097									hect domain and RLD 2 pseudogene 2																		CTTCCCAATGAGAATCTCTGAA	0.426																																						ENST00000560464.1																			0																																																			0							g.chr15:23283336_23283337insT	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23283336_23283337insT														0	5097	-									RNA	INS	ENST00000560464.1	37																																																																																						0.426	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			7	108						7	108	---	---	---	---
ADAL	161823	broad.mit.edu	37	15	43641114	43641115	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:43641114_43641115insA	ENST00000562188.1	+	8	659_660	c.643_644insA	c.(643-645)caafs	p.Q215fs	ADAL_ENST00000389651.4_Frame_Shift_Ins_p.Q215fs|ADAL_ENST00000422466.2_Frame_Shift_Ins_p.Q215fs|ADAL_ENST00000428046.3_Frame_Shift_Ins_p.Q188fs			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	215					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GATTCCAAACCAAAAAAAAGAA	0.455																																						ENST00000422466.2																			0				endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7						c.(643-645)aaafs		adenosine deaminase-like																																				SO:0001589	frameshift_variant	161823				adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding	g.chr15:43641114_43641115insA		CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.651dupA	15.37:g.43641122_43641122dupA	ENSP00000456242:p.Gln215fs					ADAL_ENST00000389651.4_Frame_Shift_Ins_p.K215fs|ADAL_ENST00000562188.1_Frame_Shift_Ins_p.K215fs|ADAL_ENST00000428046.3_Frame_Shift_Ins_p.K188fs	p.K215fs			Q6DHV7	ADAL_HUMAN		GBM - Glioblastoma multiforme(94;9.31e-07)	11	1217_1218	+		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	215					A6NHZ3|B4DQM8	Frame_Shift_Ins	INS	ENST00000562188.1	37	c.643_644insA																																																																																					0.455	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432960.1	XM_091156		8	215						8	215	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	lincRNA	DEL	C	C	-	rs376790777|rs57286078|rs534087513|rs552210225	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433																																						ENST00000543286.1																			0																																																			0							g.chr15:93974510delC																													15.37:g.93974510delC														0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.433	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			7	80						7	80	---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24942180	24942180	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:24942180delG	ENST00000289968.6	-	19	2509	c.2440delC	c.(2440-2442)caafs	p.Q814fs	ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.Q736fs|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	814	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CCAGGAGGTTGGGGGGGTGGG	0.577																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2440-2442)aafs		Rho GTPase activating protein 17							114.0	128.0	123.0					16																	24942180		2197	4300	6497	SO:0001589	frameshift_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942180delG	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2440delC	16.37:g.24942180delG	ENSP00000289968:p.Gln814fs					ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.Q736fs|ARHGAP17_ENST00000441763.2_3'UTR	p.Q814fs	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2509	-			814			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Frame_Shift_Del	DEL	ENST00000289968.6	37	c.2440delC	CCDS32409.1																																																																																				0.577	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		7	653						7	653	---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28931200	28931202	+	In_Frame_Del	DEL	CTG	CTG	-	rs373504496		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:28931200_28931202delCTG	ENST00000358201.4	-	3	925_927	c.337_339delCAG	c.(337-339)cagdel	p.Q113del	RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	113	Poly-Gln.				endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCACAGTCCTGCTGCTGCTGC	0.64																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(337-339)del		rabaptin, RAB GTPase binding effector protein 2																																				SO:0001651	inframe_deletion	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28931200_28931202delCTG	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.337_339delCAG	16.37:g.28931209_28931211delCTG	ENSP00000350934:p.Gln113del					RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000561803.1_5'UTR	p.Q113del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			3	925_927	-			113			Poly-Gln.			In_Frame_Del	DEL	ENST00000358201.4	37	c.337_339delCAG	CCDS42140.1																																																																																				0.640	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		7	208						7	208	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-	rs374222520		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)gggctg>ggg	p.L1106del	ITGAL_ENST00000358164.5_In_Frame_Del_p.L1022del|ITGAL_ENST00000433423.2_In_Frame_Del_p.L340del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1106					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCATCGGGGGGCTGCTGCTGCTG	0.601																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3298-3303)ggg>gg		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)																																			SO:0001651	inframe_deletion	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30531249_30531251delGCT		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3300_3302delGCT	16.37:g.30531258_30531260delGCT	ENSP00000349252:p.Leu1106del					ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del|ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del	p.GL1100del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			30	3480_3482	+			1100					O43746|Q45H73|Q96HB1|Q9UBC8	In_Frame_Del	DEL	ENST00000356798.6	37	c.3300_3302delGCT	CCDS32433.1																																																																																				0.601	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			13	874						13	874	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-	rs531337171|rs569719496	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		7	244						7	244	---	---	---	---
ACD	65057	broad.mit.edu	37	16	67693646	67693648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:67693646_67693648delGCA	ENST00000393919.4	-	3	815_817	c.551_553delTGC	c.(550-555)ctgcag>cag	p.L184del	ACD_ENST00000219251.8_In_Frame_Del_p.L181del|PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000219255.3_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	184					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.L181delL(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCGCAGTCCTGCAGCAGCAGCAG	0.65																																						ENST00000219251.8																			1	Deletion - In frame(1)	p.L181delL(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(541-546)cag>c		adrenocortical dysplasia homolog (mouse)																																				SO:0001651	inframe_deletion	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67693646_67693648delGCA	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.551_553delTGC	16.37:g.67693655_67693657delGCA	ENSP00000377496:p.Leu184del					ACD_ENST00000393919.4_In_Frame_Del_p.LQ184del	p.LQ181del	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	3	873_875	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	184					Q562H5|Q9H8F9	In_Frame_Del	DEL	ENST00000393919.4	37	c.542_544delTGC	CCDS42181.1																																																																																				0.650	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		9	534						9	534	---	---	---	---
ZFP90	146198	broad.mit.edu	37	16	68598462	68598463	+	Frame_Shift_Ins	INS	-	-	A	rs543784734		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:68598462_68598463insA	ENST00000570495.1	+	5	2064_2065	c.1772_1773insA	c.(1771-1776)cgaaaafs	p.RK591fs	ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.RK591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.RK591fs			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	591					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGAGCCTTCCGAAAAAAAACCA	0.411																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1771-1773)caafs		ZFP90 zinc finger protein																																				SO:0001589	frameshift_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598462_68598463insA	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1780dupA	16.37:g.68598470_68598470dupA	ENSP00000460547:p.Arg591fs					ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs|ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA	p.Q591fs			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	2064_2065	+		Ovarian(137;0.192)	591					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Frame_Shift_Ins	INS	ENST00000570495.1	37	c.1772_1773insA	CCDS42183.1																																																																																				0.411	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		10	743						10	743	---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	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_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	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		8	1233						8	1233	---	---	---	---
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-	rs369235958		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		7	198						7	198	---	---	---	---
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-	rs528891272	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaggaa>gaa	p.189_190EE>E		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(565-570)gaa>ga		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	28987					nucleus	metal ion binding|protein binding	g.chr16:69782978_69782980delTCC	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.567_569delGGA	16.37:g.69782987_69782989delTCC	ENSP00000268802:p.Glu191del						p.EE189del	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN			6	596_598	-			189			Poly-Glu.		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	In_Frame_Del	DEL	ENST00000268802.5	37	c.567_569delGGA	CCDS10884.1																																																																																				0.522	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		8	259						8	259	---	---	---	---
TAF1C	9013	broad.mit.edu	37	16	84213941	84213942	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:84213941_84213942delAG	ENST00000567759.1	-	12	1577_1578	c.1395_1396delCT	c.(1393-1398)ctctacfs	p.Y466fs	TAF1C_ENST00000341690.6_Frame_Shift_Del_p.Y373fs|TAF1C_ENST00000541676.1_Frame_Shift_Del_p.Y373fs|TAF1C_ENST00000378541.4_Frame_Shift_Del_p.Y466fs|TAF1C_ENST00000566732.1_Frame_Shift_Del_p.Y440fs|TAF1C_ENST00000570117.1_Frame_Shift_Del_p.Y134fs	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	466					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCCACTAGGTAGAGAGAGAACT	0.668																																						ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(1393-1398)ctacfs		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa																																				SO:0001589	frameshift_variant	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84213941_84213942delAG	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1395_1396delCT	16.37:g.84213947_84213948delAG	ENSP00000455265:p.Tyr466fs					TAF1C_ENST00000378541.4_Frame_Shift_Del_p.LY465fs|TAF1C_ENST00000341690.6_Frame_Shift_Del_p.LY372fs|TAF1C_ENST00000541676.1_Frame_Shift_Del_p.LY372fs|TAF1C_ENST00000566732.1_Frame_Shift_Del_p.LY439fs|TAF1C_ENST00000570117.1_Frame_Shift_Del_p.LY133fs	p.LY465fs	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			12	1577_1578	-			465					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Frame_Shift_Del	DEL	ENST00000567759.1	37	c.1395_1396delCT	CCDS32496.1																																																																																				0.668	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		2	4						2	4	---	---	---	---
UPF3AP2	147150	broad.mit.edu	37	17	20279654	20279655	+	RNA	INS	-	-	T	rs200407551|rs201092359|rs530996042	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:20279654_20279655insT	ENST00000578315.1	-	0	51_52									UPF3A pseudogene 2																		atctgtctctcttttttttttt	0.381																																						ENST00000578315.1																			0																																																			0							g.chr17:20279654_20279655insT			17p11.2	2013-09-13	2013-09-13			ENSG00000214832			30567	pseudogene	pseudogene			"""UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 2"""			11997339	Standard	NG_001546		Approved						17.37:g.20279665_20279665dupT														0	51_52	-									RNA	INS	ENST00000578315.1	37																																																																																						0.381	UPF3AP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443627.1	NG_001546		12	8						12	8	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)agcdel	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4573-4575)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027202_27027204delAGC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4573_4575delAGC	17.37:g.27027211_27027213delAGC	ENSP00000319104:p.Ser1528del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			34	4856_4858	+	Lung NSC(42;0.00431)		1528			Poly-Ser.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.4573_4575delAGC	CCDS32596.1																																																																																				0.537	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		8	887						8	887	---	---	---	---
PSMD11	5717	broad.mit.edu	37	17	30806379	30806379	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:30806379delT	ENST00000261712.3	+	10	1286	c.1023delT	c.(1021-1023)cctfs	p.P341fs	PSMD11_ENST00000457654.2_Frame_Shift_Del_p.P341fs	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	341	PCI.				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)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			TCATTGAGCCTTTTTCCAGAG	0.507																																					Ovarian(130;1038 1716 9294 11987 19279)	ENST00000261712.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(1021-1023)ccfs		proteasome (prosome, macropain) 26S subunit, non-ATPase, 11							121.0	117.0	118.0					17																	30806379		2203	4300	6503	SO:0001589	frameshift_variant	5717				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|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30806379delT	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.1023delT	17.37:g.30806379delT	ENSP00000261712:p.Pro341fs					PSMD11_ENST00000457654.2_Frame_Shift_Del_p.P341fs	p.P341fs	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		10	1286	+		Breast(31;0.159)|Ovarian(249;0.182)	341			PCI.		A8K3I7|E1P663|O00495|Q53FT5	Frame_Shift_Del	DEL	ENST00000261712.3	37	c.1023delT	CCDS11272.1																																																																																				0.507	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		8	1040						8	1040	---	---	---	---
RP11-156P1.3	0	broad.mit.edu	37	17	45128629	45128629	+	RNA	DEL	T	T	-	rs532483899	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:45128629delT	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCTGGTGTGtttttttttgt	0.333																																						ENST00000575173.1																			0																																																			0							g.chr17:45128629delT																													17.37:g.45128629delT														0	418	-									RNA	DEL	ENST00000575173.1	37																																																																																						0.333	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			9	201						9	201	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)atcfs	p.I91fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323																																						ENST00000066544.3																			1	Deletion - Frameshift(1)	p.I91fs*54(1)	ovary(1)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(271-273)tcfs		cell division cycle 27							84.0	94.0	91.0					17																	45247389		2203	4299	6502	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45247389delT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.271delA	17.37:g.45247389delT	ENSP00000066544:p.Ile91fs					RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs	p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			4	364	-			91					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.271delA	CCDS11509.1																																																																																				0.323	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			17	454						17	454	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	TGC	-	rs61731354|rs73995411|rs57786397|rs369163670	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:56056605_56056607delTGC	ENST00000581208.1	-	5	1084_1086	c.1044_1046delGCA	c.(1042-1047)cagcaa>caa	p.348_349QQ>Q	VEZF1_ENST00000584396.1_In_Frame_Del_p.339_340QQ>Q	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	348	Poly-Gln.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1015-1020)caa>ca		vascular endothelial zinc finger 1																																				SO:0001651	inframe_deletion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056605_56056607delTGC	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1044_1046delGCA	17.37:g.56056614_56056616delTGC	ENSP00000462337:p.Gln354del					VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del	p.QQ343del			Q14119	VEZF1_HUMAN			5	1105_1107	-			352			Poly-Gln.			In_Frame_Del	DEL	ENST00000581208.1	37	c.1017_1019delGCA	CCDS32687.1																																																																																				0.463	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			7	580						7	580	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56060674	56060674	+	Frame_Shift_Del	DEL	A	A	-	rs532205407		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:56060674delA	ENST00000581208.1	-	2	154	c.114delT	c.(112-114)cctfs	p.P38fs	VEZF1_ENST00000584396.1_Frame_Shift_Del_p.P29fs	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	38					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GTTTCTGATCAGGGGGCTCCA	0.473																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(85-87)ccfs		vascular endothelial zinc finger 1							96.0	104.0	101.0					17																	56060674		2203	4300	6503	SO:0001589	frameshift_variant	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060674delA	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.114delT	17.37:g.56060674delA	ENSP00000462337:p.Pro38fs					VEZF1_ENST00000581208.1_Frame_Shift_Del_p.P38fs	p.P29fs			Q14119	VEZF1_HUMAN			2	175	-			38						Frame_Shift_Del	DEL	ENST00000581208.1	37	c.87delT	CCDS32687.1																																																																																				0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			17	381						17	381	---	---	---	---
CANT1	124583	broad.mit.edu	37	17	76993313	76993313	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:76993313delT	ENST00000302345.2	-	2	886	c.392delA	c.(391-393)aagfs	p.K131fs	CANT1_ENST00000392446.5_Frame_Shift_Del_p.K131fs|CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Frame_Shift_Del_p.K131fs	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(391-393)agfs		calcium activated nucleotidase 1							184.0	181.0	182.0					17																	76993313		2203	4300	6503	SO:0001589	frameshift_variant	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993313delT	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.392delA	17.37:g.76993313delT	ENSP00000307674:p.Lys131fs					CANT1_ENST00000591773.1_Frame_Shift_Del_p.K131fs|CANT1_ENST00000392446.5_Frame_Shift_Del_p.K131fs	p.K131fs	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	886	-			131					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Frame_Shift_Del	DEL	ENST00000302345.2	37	c.392delA	CCDS11760.1																																																																																				0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		7	1361						7	1361	---	---	---	---
HDGFRP2	84717	broad.mit.edu	37	19	4491824	4491824	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:4491824delA	ENST00000301284.4	+	6	734	c.670delA	c.(670-672)aaafs	p.K227fs	HDGFRP2_ENST00000586684.1_Frame_Shift_Del_p.K227fs	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		227	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GGGGGGACGGAAAAAAAAGGT	0.632																																						ENST00000301284.4																			0											c.(670-672)aafs									44.0	54.0	51.0					19																	4491824		1879	4108	5987	SO:0001589	frameshift_variant	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4491824delA																												ENST00000301284.4:c.670delA	19.37:g.4491824delA	ENSP00000301284:p.Lys227fs					HDGFRP2_ENST00000586684.1_Frame_Shift_Del_p.K227fs	p.K227fs	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			6	734	+			227			Ser-rich.		I3L080|K7EQZ6|Q96GI5|Q9BW08	Frame_Shift_Del	DEL	ENST00000301284.4	37	c.670delA	CCDS42472.1																																																																																				0.632	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			7	334						7	334	---	---	---	---
DENND1C	79958	broad.mit.edu	37	19	6477251	6477251	+	Frame_Shift_Del	DEL	G	G	-	rs553532837	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:6477251delG	ENST00000381480.2	-	8	603	c.491delC	c.(490-492)cctfs	p.P164fs	DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs|DENND1C_ENST00000591030.1_5'UTR	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		7	219						7	219	---	---	---	---
ZNF799	90576	broad.mit.edu	37	19	12502590	12502590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:12502590delA	ENST00000430385.3	-	4	822	c.622delT	c.(622-624)tggfs	p.W208fs	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Frame_Shift_Del_p.W176fs	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	208					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)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AAACTGGGCCAAAAAAACGCT	0.413																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(526-528)ggfs		zinc finger protein 799							86.0	89.0	88.0					19																	12502590		2203	4299	6502	SO:0001589	frameshift_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502590delA	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.622delT	19.37:g.12502590delA	ENSP00000411084:p.Trp208fs					ZNF799_ENST00000430385.3_Frame_Shift_Del_p.W208fs|CTD-3105H18.14_ENST00000435033.1_Intron	p.W176fs			Q96GE5	ZN799_HUMAN			4	1275	-			208						Frame_Shift_Del	DEL	ENST00000430385.3	37	c.526delT	CCDS45989.1																																																																																				0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		9	464						9	464	---	---	---	---
RAB3A	5864	broad.mit.edu	37	19	18311123	18311151	+	Splice_Site	DEL	TGGGGTACACTCACCAGTCCTGCACTGCA	TGGGGTACACTCACCAGTCCTGCACTGCA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:18311123_18311151delTGGGGTACACTCACCAGTCCTGCACTGCA	ENST00000222256.4	-	3	511_526	c.333_348delTGCAGTGCAGGACTGGTGAGTGTACCCCA	c.(331-348)aatgcagtgcaggactgg>aa	p.NAVQDW111fs	RAB3A_ENST00000464076.3_Splice_Site_p.NAVQDW16fs	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	111					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						aaagaGCAAGTGGGGTACACTCACCAGTCCTGCACTGCATTGAAGGATT	0.528																																						ENST00000222256.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.e3+1		RAB3A, member RAS oncogene family																																				SO:0001630	splice_region_variant	5864				glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	g.chr19:18311123_18311151delTGGGGTACACTCACCAGTCCTGCACTGCA		CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"""RAB, member RAS oncogene"""	9777	protein-coding gene	gene with protein product	"""RAS-associated protein RAB3A"""	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.347+1TGCAGTGCAGGACTGGTGAGTGTACCCCA>-	19.37:g.18311123_18311151delTGGGGTACACTCACCAGTCCTGCACTGCA						RAB3A_ENST00000464076.2_Splice_Site_p.16_splice	p.111_splice	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN			3	511_526	-			111					A8K0J4|Q9NYE1	Splice_Site	DEL	ENST00000222256.4	37	c.347_splice	CCDS12372.1																																																																																				0.528	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	NM_002866	Frame_Shift_Del	21	209						21	209	---	---	---	---
SUGP2	10147	broad.mit.edu	37	19	19136394	19136394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:19136394delT	ENST00000601879.1	-	3	1060	c.763delA	c.(763-765)atafs	p.I255fs	SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	255					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACGGTGGGTATTTTTTTTGTG	0.502																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(763-765)tafs		SURP and G patch domain containing 2							168.0	156.0	160.0					19																	19136394		2203	4300	6503	SO:0001589	frameshift_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136394delT	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.763delA	19.37:g.19136394delT	ENSP00000472286:p.Ile255fs					SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs	p.I255fs			Q8IX01	SUGP2_HUMAN			3	1060	-			255					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Frame_Shift_Del	DEL	ENST00000601879.1	37	c.763delA	CCDS12392.1																																																																																				0.502	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		12	623						12	623	---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	22002025	22002026	+	Splice_Site	INS	-	-	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:22002025_22002026insA	ENST00000354959.4	-	2	173		c.e2-2		ZNF43_ENST00000595461.1_Splice_Site|ZNF43_ENST00000594012.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43						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)	p.?(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACAA	0.386																																						ENST00000594012.1																			1	Unknown(1)	p.?(1)	ovary(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.e5-2		zinc finger protein 43																																				SO:0001630	splice_region_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22002025_22002026insA	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.4-2->T	19.37:g.22002033_22002033dupA						ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000595461.1_Splice_Site|ZNF43_ENST00000354959.4_Splice_Site		NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	5	500	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)						A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Splice_Site	INS	ENST00000354959.4	37		CCDS12413.2																																																																																				0.386	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	Intron	7	319						7	319	---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:36583666_36583668delGCA	ENST00000270301.7	+	19	2286_2288	c.2286_2288delGCA	c.(2284-2289)cggcag>cgg	p.Q766del	WDR62_ENST00000401500.2_In_Frame_Del_p.Q766del			O43379	WDR62_HUMAN	WD repeat domain 62	766					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2284-2289)cgg>cg		WD repeat domain 62																																				SO:0001651	inframe_deletion	284403				cerebral cortex development	nucleus		g.chr19:36583666_36583668delGCA	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2286_2288delGCA	19.37:g.36583675_36583677delGCA	ENSP00000270301:p.Gln766del					WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del	p.RQ762del	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		19	2321_2323	+	Esophageal squamous(110;0.162)		762					Q63HP9|Q659D7|Q8NBF7|Q96AD9	In_Frame_Del	DEL	ENST00000270301.7	37	c.2286_2288delGCA	CCDS33001.1																																																																																				0.616	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		7	536						7	536	---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(631-636)cgg>cg		CD3e molecule, epsilon associated protein			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del	p.RK211del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	211					Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		12	411						12	411	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ctgccc>ccc	p.L8del	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.L8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.L8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(22-27)ccc>c		sialic acid binding Ig-like lectin 8																																				SO:0001651	inframe_deletion	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961617_51961619delGCA	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.23_25delTGC	19.37:g.51961626_51961628delGCA	ENSP00000321077:p.Leu8del					SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del	p.LP8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	89_91	-		all_neural(266;0.0199)	8					Q7Z728	In_Frame_Del	DEL	ENST00000321424.3	37	c.23_25delTGC	CCDS33086.1																																																																																				0.596	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		8	246						8	246	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0.0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			9	273						9	273	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	TGC	-	rs140426729	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:33330968_33330970delTGC	ENST00000374796.2	-	12	5660_5662	c.3090_3092delGCA	c.(3088-3093)cagcaa>caa	p.1030_1031QQ>Q	NCOA6_ENST00000359003.2_In_Frame_Del_p.1030_1031QQ>Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1030	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCATTtgttgctgctgctgct	0.576																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(3088-3093)caa>ca		nuclear receptor coactivator 6																																				SO:0001651	inframe_deletion	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33330968_33330970delTGC	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3090_3092delGCA	20.37:g.33330977_33330979delTGC	ENSP00000363929:p.Gln1032del					NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del	p.QQ1030del			Q14686	NCOA6_HUMAN			12	5660_5662	-			1030			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	In_Frame_Del	DEL	ENST00000374796.2	37	c.3090_3092delGCA	CCDS13241.1																																																																																				0.576	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		10	349						10	349	---	---	---	---
TRPC4AP	26133	broad.mit.edu	37	20	33588844	33588844	+	IGR	DEL	G	G	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:33588844delG	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Frame_Shift_Del_p.L1828fs			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTGCACACCTGGAACGGATGA	0.652																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(5482-5484)ctfs		myosin, heavy chain 7B, cardiac muscle, beta							57.0	69.0	65.0					20																	33588844		2201	4299	6500	SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33588844delG	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33588844delG							p.L1828fs	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		39	5576	+			1786					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Frame_Shift_Del	DEL	ENST00000252015.2	37	c.5484delG	CCDS13246.1																																																																																				0.652	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		91	210						91	210	---	---	---	---
APP	351	broad.mit.edu	37	21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000474136.1_5'UTR	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		7	156						7	156	---	---	---	---
NEFH	4744	broad.mit.edu	37	22	29885876	29885877	+	In_Frame_Ins	INS	-	-	GAAGAA	rs59890097|rs532587474	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr22:29885876_29885877insGAAGAA	ENST00000310624.6	+	4	2280_2281	c.2247_2248insGAAGAA	c.(2248-2250)gcc>GAAGAAgcc	p.749_750insEE		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	755	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCAGAGAAGGCCAAGTCCCC	0.55																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(2245-2250)aaccaa>aaGAAGAAccaa		neurofilament, heavy polypeptide																																				SO:0001652	inframe_insertion	4744				cell death|nervous system development	neurofilament		g.chr22:29885876_29885877insGAAGAA		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	Exception_encountered	22.37:g.29885876_29885877insGAAGAA	ENSP00000311997:p.Lys749_Ala750insGluGlu						p.748_749insKK	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	2280_2281	+			754			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	c.2247_2248insGAAGAA	CCDS13858.1																																																																																				0.550	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		9	348						9	348	---	---	---	---
OFD1	8481	broad.mit.edu	37	X	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-	rs312262846|rs312262847|rs312262848		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:13764946delA	ENST00000340096.6	+	8	1029	c.702delA	c.(700-702)gcafs	p.A234fs	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Frame_Shift_Del_p.A94fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAATGGAAGCAAAAAAAAAGT	0.299																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(280-282)gcfs		oral-facial-digital syndrome 1				31,3690		0,25,6,1567,531	48.0	47.0	47.0			4.2	1.0	X		47	88,6391		4,29,51,2322,1718	no	frameshift	OFD1	NM_003611.2		4,54,57,3889,2249	A1A1,A1R,A1,RR,R		1.3582,0.8331,1.1667			13764946	119,10081	2203	4298	6501	SO:0001589	frameshift_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13764946delA	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.702delA	X.37:g.13764946delA	ENSP00000344314:p.Ala234fs					OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR	p.A94fs			O75665	OFD1_HUMAN			9	1154	+			234			LisH.		B9ZVU5|O75666|Q4VAK4	Frame_Shift_Del	DEL	ENST00000340096.6	37	c.282delA	CCDS14157.1																																																																																				0.299	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		13	231						13	231	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		7	143						7	143	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44969494	44969503	+	Splice_Site	DEL	AGTAAGTCAA	AGTAAGTCAA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:44969494_44969503delAGTAAGTCAA	ENST00000377967.4	+	28	4217	c.4176delAGTAAGTCAA	c.(4174-4176)tta>tt	p.L1392fs	KDM6A_ENST00000536777.1_Splice_Site_p.L1347fs|KDM6A_ENST00000543216.1_Splice_Site_p.L1313fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Splice_Site_p.L1399fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1392					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AATTTACATTAGTAAGTCAAATCAACATGT	0.376			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e28+1		lysine (K)-specific demethylase 6A																																				SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969494_44969503delAGTAAGTCAA	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4176+1AGTAAGTCAA>-	X.37:g.44969494_44969503delAGTAAGTCAA						KDM6A_ENST00000536777.1_Splice_Site_p.1347_splice|KDM6A_ENST00000543216.1_Splice_Site_p.1313_splice|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Splice_Site_p.1399_splice	p.1392_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			28	4217	+			1392					Q52LL9|Q5JVQ7	Splice_Site	DEL	ENST00000377967.4	37	c.4176_splice	CCDS14265.1																																																																																				0.376	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Frame_Shift_Del	41	185						41	185	---	---	---	---
GNL3L	54552	broad.mit.edu	37	X	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)gggaag>ggg	p.K375del	GNL3L_ENST00000360845.2_In_Frame_Del_p.K375del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	375					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1111-1116)ggg>gg		guanine nucleotide binding protein-like 3 (nucleolar)-like																																				SO:0001651	inframe_deletion	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54578339_54578341delGAA	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1113_1115delGAA	X.37:g.54578348_54578350delGAA	ENSP00000338573:p.Lys375del					GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			12	1252_1254	+			371						In_Frame_Del	DEL	ENST00000336470.4	37	c.1113_1115delGAA	CCDS14360.1																																																																																				0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		10	346						10	346	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6247-6252)cgg>cg		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360680_70360682delGCA	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del					MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del|MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del	p.RQ2083del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6448_6450	+	Renal(35;0.156)		2080			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6249_6251delGCA	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		9	153						9	153	---	---	---	---
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	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			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_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_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		11	670						11	670	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110494259	110494259	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:110494259delA	ENST00000324068.1	-	8	1211	c.1044delT	c.(1042-1044)tttfs	p.F348fs	CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	348	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTTCGGCCAAAAATAGGGT	0.488																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1042-1044)ttfs		calpain 6							331.0	293.0	306.0					X																	110494259		2203	4300	6503	SO:0001589	frameshift_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494259delA	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1044delT	X.37:g.110494259delA	ENSP00000317214:p.Phe348fs					CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	p.F348fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			8	1211	-			348			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Frame_Shift_Del	DEL	ENST00000324068.1	37	c.1044delT	CCDS14555.1																																																																																				0.488	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			7	1763						7	1763	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-	rs374739932|rs374561693		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		9	197						9	197	---	---	---	---
F8	2157	broad.mit.edu	37	X	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-	rs387906455		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86.0	84.0	85.0					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157686delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs						p.N1461fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4579	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			8	476						8	476	---	---	---	---
