#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
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000355232.3_Splice_Site_p.H157R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	11	91	0	0	0	1	0	11	91				
JAK3	3718	broad.mit.edu	37	19	17945947	17945947	+	Silent	SNP	C	C	T	rs200499852		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:17945947C>T	ENST00000527670.1	-	14	2021	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_ENST00000534444.1_Silent_p.P664P|JAK3_ENST00000458235.1_Silent_p.P664P			P52333	JAK3_HUMAN	Janus kinase 3	664	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGATGAAGGGCGGGCTCCCAT	0.637		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1990-1992)ccG>ccA		Janus kinase 3		C		0,4406		0,0,2203	49.0	48.0	48.0		1992	-9.8	0.1	19		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JAK3	NM_000215.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		664/1125	17945947	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17945947C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1992G>A	19.37:g.17945947C>T						JAK3_ENST00000534444.1_Silent_p.P664P|JAK3_ENST00000527670.1_Silent_p.P664P	p.P664P	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			15	2091	-			664			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.1992G>A	CCDS12366.1																																																																																				0.637	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		9	190	0	0	0	1	0	9	190				
GATA2	2624	broad.mit.edu	37	3	128200008	128200008	+	Silent	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:128200008G>A	ENST00000341105.2	-	6	1628	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.L433L|GATA2_ENST00000430265.2_Silent_p.L419L	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	433					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TGTCCAGCCAGGGCAGCTGCA	0.617			Mis		AML(CML blast transformation)																																	ENST00000341105.2				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79						c.(1297-1299)Ctg>Ttg		GATA binding protein 2							124.0	109.0	114.0					3																	128200008		2203	4300	6503	SO:0001819	synonymous_variant	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128200008G>A	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1297C>T	3.37:g.128200008G>A						GATA2_ENST00000487848.1_Silent_p.L433L|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Silent_p.L419L	p.L433L	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	6	1628	-			433					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	ENST00000341105.2	37	c.1297C>T	CCDS3049.1																																																																																				0.617	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		10	277	0	0	0	1	0	10	277				
AHRR	57491	broad.mit.edu	37	5	433019	433019	+	Missense_Mutation	SNP	C	C	T	rs201402371		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:433019C>T	ENST00000505113.1	+	10	1125	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	AHRR_ENST00000512529.1_Missense_Mutation_p.R207W|AHRR_ENST00000506456.1_Missense_Mutation_p.R217W|AHRR_ENST00000316418.5_Missense_Mutation_p.R379W	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	361					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCTGTGCCTCCGGGGTGGCCC	0.667																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(1135-1137)Cgg>Tgg		aryl-hydrocarbon receptor repressor		C	TRP/ARG,TRP/ARG	0,3922		0,0,1961	21.0	24.0	23.0		1081,1135	-2.2	0.1	5		23	1,8245		0,1,4122	yes	missense,missense	AHRR	NM_001242412.1,NM_020731.4	101,101	0,1,6083	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging,probably-damaging	361/702,379/720	433019	1,12167	1961	4123	6084	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:433019C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1081C>T	5.37:g.433019C>T	ENSP00000424601:p.Arg361Trp					AHRR_ENST00000505113.1_Missense_Mutation_p.R361W|AHRR_ENST00000506456.1_Missense_Mutation_p.R217W|AHRR_ENST00000512529.1_Missense_Mutation_p.R207W	p.R379W	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		11	1179	+			361					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.1135C>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	C	9.825	1.186883	0.21870	0.0	1.21E-4	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.24151	2.19;2.19;1.87;1.87	3.9	-2.23	0.06930	.	0.377486	0.28504	N	0.015115	T	0.37758	0.1015	M	0.68317	2.08	0.09310	N	1	D;D;D	0.76494	0.999;0.99;0.998	D;B;P	0.66497	0.944;0.425;0.788	T	0.18524	-1.0334	10	0.66056	D	0.02	.	6.5247	0.22295	0.3451:0.5411:0.1138:0.0	.	217;361;379	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	W	361;379;207;217	ENSP00000424601:R361W;ENSP00000323816:R379W;ENSP00000424880:R207W;ENSP00000426932:R217W	ENSP00000323816:R379W	R	+	1	2	AHRR	486019	0.326000	0.24669	0.058000	0.19502	0.059000	0.15707	0.369000	0.20416	-0.463000	0.06973	-0.321000	0.08615	CGG		0.667	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		4	90	0	0	0	1	0	4	90				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	8	127	0	0	0	1	0	8	127				
CLNK	116449	broad.mit.edu	37	4	10502908	10502908	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr4:10502908G>A	ENST00000226951.6	-	18	1351	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V	CLNK_ENST00000515667.1_Missense_Mutation_p.A109V	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	371	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TGTCCCCAGGGCAAACTGCTG	0.458																																					GBM(87;402 1286 6949 13902 35851)	ENST00000226951.6																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						c.(1111-1113)gCc>gTc		cytokine-dependent hematopoietic cell linker							80.0	78.0	79.0					4																	10502908		1916	4142	6058	SO:0001583	missense	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10502908G>A	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.1112C>T	4.37:g.10502908G>A	ENSP00000226951:p.Ala371Val					CLNK_ENST00000515667.1_Missense_Mutation_p.A109V	p.A371V	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN			18	1351	-			371			SH2.		Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	c.1112C>T	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907244	0.92107	.	.	ENSG00000109684	ENST00000226951;ENST00000515667;ENST00000429087	T;T	0.62788	-0.0;-0.0	5.39	5.39	0.77823	SH2 motif (4);	0.000000	0.64402	D	0.000001	T	0.65790	0.2725	N	0.21448	0.665	0.80722	D	1	D	0.58970	0.984	P	0.61201	0.885	T	0.66925	-0.5800	10	0.45353	T	0.12	-20.1462	16.6639	0.85247	0.0:0.0:1.0:0.0	.	371	Q7Z7G1	CLNK_HUMAN	V	371;109;335	ENSP00000226951:A371V;ENSP00000427256:A109V	ENSP00000226951:A371V	A	-	2	0	CLNK	10112006	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.192000	0.65115	2.515000	0.84797	0.650000	0.86243	GCC		0.458	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		4	206	0	0	0	1	0	4	206				
SMC5	23137	broad.mit.edu	37	9	72920223	72920223	+	Missense_Mutation	SNP	T	T	G			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr9:72920223T>G	ENST00000361138.5	+	11	1583	c.1525T>G	c.(1525-1527)Tta>Gta	p.L509V		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	509	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						ATCAAATGACTTAAGAGCCTT	0.308																																						ENST00000361138.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						c.(1525-1527)Tta>Gta		structural maintenance of chromosomes 5							84.0	90.0	88.0					9																	72920223		2202	4299	6501	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72920223T>G	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1525T>G	9.37:g.72920223T>G	ENSP00000354957:p.Leu509Val						p.L509V	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN			11	1583	+			509			Flexible hinge.		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.1525T>G	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.642987	0.67244	.	.	ENSG00000198887	ENST00000361138	T	0.26373	1.74	5.36	1.43	0.22495	RecF/RecN/SMC (1);	0.151160	0.43919	D	0.000502	T	0.27559	0.0677	M	0.61703	1.905	0.45883	D	0.998735	D	0.54207	0.965	P	0.48770	0.589	T	0.05241	-1.0897	10	0.62326	D	0.03	-7.6654	3.9845	0.09509	0.2939:0.1765:0.0:0.5296	.	509	Q8IY18	SMC5_HUMAN	V	509	ENSP00000354957:L509V	ENSP00000354957:L509V	L	+	1	2	SMC5	72110043	0.334000	0.24739	1.000000	0.80357	0.997000	0.91878	0.231000	0.17872	0.877000	0.35895	0.533000	0.62120	TTA		0.308	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		13	376	0	0	0	1	0	13	376				
ALX1	8092	broad.mit.edu	37	12	85674140	85674140	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:85674140C>T	ENST00000316824.3	+	1	256	c.101C>T	c.(100-102)aCg>aTg	p.T34M		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	34					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GTTATGGAGACGCTGGACAAT	0.567																																						ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(100-102)aCg>aTg		ALX homeobox 1							67.0	66.0	67.0					12																	85674140		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85674140C>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.101C>T	12.37:g.85674140C>T	ENSP00000315417:p.Thr34Met						p.T34M	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	1	256	+			34					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.101C>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409340	0.62399	.	.	ENSG00000180318	ENST00000316824	D	0.92545	-3.06	5.48	5.48	0.80851	.	0.091744	0.85682	D	0.000000	D	0.85522	0.5716	N	0.14661	0.345	0.44117	D	0.996899	D	0.54047	0.964	B	0.41299	0.353	D	0.88533	0.3104	10	0.87932	D	0	.	15.694	0.77481	0.0:0.8631:0.1369:0.0	.	34	Q15699	ALX1_HUMAN	M	34	ENSP00000315417:T34M	ENSP00000315417:T34M	T	+	2	0	ALX1	84198271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.605000	0.46283	2.562000	0.86427	0.650000	0.86243	ACG		0.567	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		13	330	0	0	0	1	0	13	330				
HS6ST1	9394	broad.mit.edu	37	2	129026421	129026421	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:129026421A>G	ENST00000259241.6	-	2	564	c.551T>C	c.(550-552)cTa>cCa	p.L184P		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	184					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGGGTCTCGTAGCAGGGTGAT	0.622																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(550-552)cTa>cCa		heparan sulfate 6-O-sulfotransferase 1							27.0	28.0	28.0					2																	129026421		2038	4089	6127	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026421A>G	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.551T>C	2.37:g.129026421A>G	ENSP00000259241:p.Leu184Pro						p.L184P	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	564	-	Colorectal(110;0.1)		184					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.551T>C	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237048	0.79800	.	.	ENSG00000136720	ENST00000259241	T	0.75260	-0.92	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000001	D	0.88145	0.6358	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.90391	0.4395	9	.	.	.	.	14.4384	0.67298	1.0:0.0:0.0:0.0	.	184	O60243	H6ST1_HUMAN	P	184	ENSP00000259241:L184P	.	L	-	2	0	HS6ST1	128742891	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	8.936000	0.92931	1.813000	0.52934	0.379000	0.24179	CTA		0.622	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		6	150	0	0	0	1	0	6	150				
FAM86C1	55199	broad.mit.edu	37	11	71507232	71507232	+	Intron	SNP	C	C	G	rs113587125	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:71507232C>G	ENST00000359244.4	+	4	434				FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1											lung(1)	1						CACGCCCACCCGGGCCTGCAT	0.612													.|||	509	0.101637	0.152	0.1023	5008	,	,		18127	0.0198		0.1382	False		,,,				2504	0.0798					ENST00000528685.1																			0				lung(1)	1						c.(328-330)cCg>cGg		family with sequence similarity 86, member C1							84.0	97.0	92.0					11																	71507232		2200	4293	6493	SO:0001627	intron_variant	55199							g.chr11:71507232C>G	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.411+20C>G	11.37:g.71507232C>G						FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000359244.4_Intron	p.P110R			Q9NVL1	FA86C_HUMAN			3	329	+			0					Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	c.329C>G	CCDS41686.1	.	.	.	.	.	.	.	.	.	.	.	0.036	-1.308522	0.01342	.	.	ENSG00000158483	ENST00000528685	T	0.20598	2.06	0.993	-1.45	0.08828	.	.	.	.	.	T	0.13457	0.0326	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33548	-0.9864	5	.	.	.	.	4.8493	0.13530	0.0:0.5879:0.0:0.4121	.	.	.	.	R	110	ENSP00000436598:P110R	.	P	+	2	0	FAM86C1	71184880	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	-0.734000	0.04893	-0.792000	0.04480	-1.109000	0.02080	CCG		0.612	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		22	571	0	0	0	1	0	22	571				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			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.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	227	0	0	0	1	0	4	227				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			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.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	484	0	0	0	1	0	7	484				
KRTAP5-10	387273	broad.mit.edu	37	11	71276876	71276876	+	Silent	SNP	A	A	G	rs12788123		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:71276876A>G	ENST00000398531.1	+	1	268	c.243A>G	c.(241-243)aaA>aaG	p.K81K	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	81	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.K81K(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTCCAAAGGGGGCTGTG	0.682																																						ENST00000398531.1																			1	Substitution - coding silent(1)	p.K81K(1)	endometrium(1)	endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(241-243)aaA>aaG		keratin associated protein 5-10							51.0	72.0	65.0					11																	71276876		2140	4257	6397	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276876A>G	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.243A>G	11.37:g.71276876A>G						KRTAP5-10_ENST00000376536.4_Intron	p.K81K	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	268	+			81			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.243A>G	CCDS41684.1																																																																																				0.682	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			6	422	0	0	0	1	0	6	422				
INHBA	3624	broad.mit.edu	37	7	41729994	41729994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:41729994G>A	ENST00000242208.4	-	3	781	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Nonsense_Mutation_p.Q179*|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	179					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGTGCTTCTGCTGCTGGAAG	0.562										TSP Lung(11;0.080)																												ENST00000242208.4																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(535-537)Cag>Tag		inhibin, beta A							101.0	94.0	97.0					7																	41729994		2203	4300	6503	SO:0001587	stop_gained	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729994G>A		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.535C>T	7.37:g.41729994G>A	ENSP00000242208:p.Gln179*	TSP Lung(11;0.080)				INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Nonsense_Mutation_p.Q179*|AC005027.3_ENST00000416150.1_RNA	p.Q179*	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			3	781	-			179					Q14599	Nonsense_Mutation	SNP	ENST00000242208.4	37	c.535C>T	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	38	6.897179	0.97920	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	.	.	.	5.81	5.81	0.92471	.	0.554170	0.20607	N	0.089047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-18.9698	20.0699	0.97718	0.0:0.0:1.0:0.0	.	.	.	.	X	179	.	ENSP00000242208:Q179X	Q	-	1	0	INHBA	41696519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.018000	0.70811	2.741000	0.93983	0.655000	0.94253	CAG		0.562	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			19	297	0	0	0	1	0	19	297				
CRYZL1	9946	broad.mit.edu	37	21	34975784	34975784	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr21:34975784G>A	ENST00000381554.3	-	7	476	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	CRYZL1_ENST00000445393.1_Missense_Mutation_p.R93C|CRYZL1_ENST00000290244.5_Missense_Mutation_p.R116C|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000361534.2_Missense_Mutation_p.R155C|CRYZL1_ENST00000381540.3_Missense_Mutation_p.R131C	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	131					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						GTATAGGCACGCACTCCATCC	0.423																																						ENST00000361534.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(463-465)Cgt>Tgt		crystallin, zeta (quinone reductase)-like 1							235.0	186.0	203.0					21																	34975784		2203	4300	6503	SO:0001583	missense	9946				quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	g.chr21:34975784G>A	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.391C>T	21.37:g.34975784G>A	ENSP00000370966:p.Arg131Cys					CRYZL1_ENST00000381540.3_Missense_Mutation_p.R131C|CRYZL1_ENST00000381554.3_Missense_Mutation_p.R131C|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Missense_Mutation_p.R116C|CRYZL1_ENST00000445393.1_Missense_Mutation_p.R93C	p.R155C			O95825	QORL1_HUMAN			8	602	-			131					B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Missense_Mutation	SNP	ENST00000381554.3	37	c.463C>T	CCDS13633.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.25|11.25	1.583221|1.583221	0.28268|0.28268	.|.	.|.	ENSG00000205758|ENSG00000205758	ENST00000440526|ENST00000381554;ENST00000290244;ENST00000381540;ENST00000445393;ENST00000361534;ENST00000452332;ENST00000426935;ENST00000431177;ENST00000417979	.|T;T;T;T;T;T;T;T	.|0.40476	.|1.59;1.59;1.59;1.59;1.59;1.03;1.03;1.03	5.41|5.41	4.53|4.53	0.55603|0.55603	.|GroES-like (1);	.|0.269718	.|0.34676	.|N	.|0.003765	T|T	0.42291|0.42291	0.1196|0.1196	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|B;B	.|0.22604	.|0.019;0.072	.|B;B	.|0.22601	.|0.036;0.04	T|T	0.39961|0.39961	-0.9588|-0.9588	5|10	.|0.72032	.|D	.|0.01	-14.8776|-14.8776	12.8285|12.8285	0.57733|0.57733	0.0797:0.0:0.9203:0.0|0.0797:0.0:0.9203:0.0	.|.	.|131;155	.|O95825;A6NHJ8	.|QORL1_HUMAN;.	V|C	74|131;116;131;93;155;131;79;131;79	.|ENSP00000370966:R131C;ENSP00000290244:R116C;ENSP00000370951:R131C;ENSP00000399730:R93C;ENSP00000355075:R155C;ENSP00000387660:R79C;ENSP00000405510:R131C;ENSP00000402844:R79C	.|ENSP00000290244:R116C	A|R	-|-	2|1	0|0	CRYZL1|CRYZL1	33897654|33897654	0.913000|0.913000	0.31002|0.31002	0.545000|0.545000	0.28153|0.28153	0.516000|0.516000	0.34256|0.34256	2.811000|2.811000	0.47986|0.47986	1.276000|1.276000	0.44395|0.44395	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.423	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	NM_145858		5	347	0	0	0	1	0	5	347				
DYRK1A	1859	broad.mit.edu	37	21	38884243	38884243	+	Silent	SNP	T	T	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr21:38884243T>A	ENST00000398960.2	+	11	1776	c.1701T>A	c.(1699-1701)ggT>ggA	p.G567G	DYRK1A_ENST00000455387.2_Silent_p.G339G|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000339659.4_Silent_p.G558G|DYRK1A_ENST00000398956.2_Missense_Mutation_p.L526M	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	567					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTCCTCTTGGTTGGTCAGGCA	0.428																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000398956.2																			0				breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1576-1578)Ttg>Atg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							89.0	82.0	85.0					21																	38884243		2203	4300	6503	SO:0001819	synonymous_variant	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38884243T>A	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1701T>A	21.37:g.38884243T>A						DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000339659.3_Silent_p.G558G|DYRK1A_ENST00000398960.2_Silent_p.G567G|DYRK1A_ENST00000455387.2_Silent_p.G339G	p.L526M			Q13627	DYR1A_HUMAN			10	1576	+			526					O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.1576T>A	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	T	10.52	1.372020	0.24857	.	.	ENSG00000157540	ENST00000398956	T	0.57907	0.37	5.54	-3.43	0.04810	.	.	.	.	.	T	0.30727	0.0774	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.12142	-1.0559	8	0.40728	T	0.16	.	1.1146	0.01711	0.2244:0.3067:0.1152:0.3537	.	526	Q13627-3	.	M	526	ENSP00000381929:L526M	ENSP00000381929:L526M	L	+	1	2	DYRK1A	37806113	0.958000	0.32768	0.989000	0.46669	0.154000	0.21943	0.013000	0.13310	-0.443000	0.07180	-0.316000	0.08728	TTG		0.428	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		12	307	0	0	0	1	0	12	307				
PHKA2	5256	broad.mit.edu	37	X	18927007	18927007	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:18927007C>T	ENST00000379942.4	-	21	2937	c.2272G>A	c.(2272-2274)Gtg>Atg	p.V758M		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	758					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCACAGTCCACGTCACCATGG	0.463																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(2272-2274)Gtg>Atg		phosphorylase kinase, alpha 2 (liver)							248.0	208.0	222.0					X																	18927007		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18927007C>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2272G>A	X.37:g.18927007C>T	ENSP00000369274:p.Val758Met						p.V758M	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			21	2937	-	Hepatocellular(33;0.183)		758					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.2272G>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475659	0.26511	.	.	ENSG00000044446	ENST00000379942	D	0.91180	-2.8	5.55	-1.88	0.07713	Glycoside hydrolase 15-related (1);	0.477031	0.24262	N	0.040078	T	0.80623	0.4658	L	0.41356	1.27	0.09310	N	1	B	0.15141	0.012	B	0.17098	0.017	T	0.65043	-0.6264	10	0.37606	T	0.19	-1.2893	1.3188	0.02112	0.2636:0.2718:0.09:0.3746	.	758	P46019	KPB2_HUMAN	M	758	ENSP00000369274:V758M	ENSP00000369274:V758M	V	-	1	0	PHKA2	18836928	0.004000	0.15560	0.014000	0.15608	0.979000	0.70002	0.087000	0.14958	-0.446000	0.07149	0.529000	0.55759	GTG		0.463	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		6	941	0	0	0	1	0	6	941				
AQP12A	375318	broad.mit.edu	37	2	241631577	241631577	+	Silent	SNP	G	G	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:241631577G>C	ENST00000337801.4	+	2	279	c.210G>C	c.(208-210)gcG>gcC	p.A70A	AQP12A_ENST00000429564.1_Silent_p.A82A|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	70						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.A70A(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TCTTCCTGGCGCACGGGGTCA	0.667																																						ENST00000429564.1																			1	Substitution - coding silent(1)	p.A70A(1)	kidney(1)	endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14						c.(244-246)gcG>gcC		aquaporin 12A							30.0	44.0	39.0					2																	241631577		2152	4265	6417	SO:0001819	synonymous_variant	375318					integral to membrane	transporter activity	g.chr2:241631577G>C	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.210G>C	2.37:g.241631577G>C						AQP12A_ENST00000337801.4_Silent_p.A70A	p.A82A			Q8IXF9	AQ12A_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	2	309	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	70						Silent	SNP	ENST00000337801.4	37	c.246G>C																																																																																					0.667	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		6	231	0	0	0	1	0	6	231				
RBM10	8241	broad.mit.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(355-357)gaG>gaT		RNA binding motif protein 10							20.0	19.0	19.0					X																	47030582		2202	4294	6496	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030582G>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp					RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron	p.E119D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1099	+			119			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.357G>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		5	79	1	0	0.000602214	1	0.00063419	5	79				
KRTAP5-3	387266	broad.mit.edu	37	11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	rs75371407		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	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			9	917	0	0	0	1	0	9	917				
KRTAP1-3	81850	broad.mit.edu	37	17	39190779	39190779	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:39190779T>C	ENST00000344363.5	-	1	328	c.295A>G	c.(295-297)Agt>Ggt	p.S99G		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	109						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.S99G(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACAGCTCCACTGCTGCCCTCC	0.652																																						ENST00000344363.5																			2	Substitution - Missense(2)	p.S99G(2)	lung(1)|kidney(1)	cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12						c.(295-297)Agt>Ggt		keratin associated protein 1-3							17.0	22.0	21.0					17																	39190779		2007	4147	6154	SO:0001583	missense	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190779T>C	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.295A>G	17.37:g.39190779T>C	ENSP00000344420:p.Ser99Gly						p.S99G	NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	328	-		Breast(137;0.000496)	109					Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	c.295A>G	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997470	0.35226	.	.	ENSG00000221880	ENST00000344363	T	0.38077	1.16	4.93	-9.87	0.00470	.	.	.	.	.	T	0.25754	0.0627	.	.	.	0.09310	N	0.999999	B	0.29253	0.239	B	0.34038	0.174	T	0.43956	-0.9359	8	0.59425	D	0.04	.	10.9204	0.47161	0.1862:0.0:0.0722:0.7416	.	109	Q8IUG1	KRA13_HUMAN	G	99	ENSP00000344420:S99G	ENSP00000344420:S99G	S	-	1	0	KRTAP1-3	36444305	0.028000	0.19301	0.006000	0.13384	0.225000	0.24961	0.193000	0.17116	-1.956000	0.01022	-0.302000	0.09304	AGT		0.652	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			6	121	0	0	0	1	0	6	121				
ZNF347	84671	broad.mit.edu	37	19	53644779	53644779	+	Silent	SNP	G	G	A	rs77716783	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:53644779G>A	ENST00000334197.7	-	5	1370	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	ZNF347_ENST00000601469.2_Silent_p.C435C|ZNF347_ENST00000452676.2_Silent_p.C435C|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	434					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGGCTTTGCCGCACTCATTAC	0.423													G|||	6	0.00119808	0.0	0.0	5008	,	,		22122	0.005		0.001	False		,,,				2504	0.0				Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1303-1305)tgC>tgT		zinc finger protein 347		G	,,	0,4406		0,0,2203	130.0	130.0	130.0		1305,1305,1302	0.6	0.0	19	dbSNP_132	130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF347	NM_001172674.1,NM_001172675.1,NM_032584.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	435/841,435/841,434/840	53644779	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644779G>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1302C>T	19.37:g.53644779G>A						ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.C435C|ZNF347_ENST00000334197.7_Silent_p.C434C	p.C435C	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1731	-			434					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1305C>T	CCDS33097.1																																																																																				0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		23	532	0	0	0	1	0	23	532				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			4	106	0	0	0	1	0	4	106				
SPESP1	246777	broad.mit.edu	37	15	69238075	69238075	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:69238075G>A	ENST00000310673.3	+	2	356	c.202G>A	c.(202-204)Gca>Aca	p.A68T	NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000455873.3_Intron|SPESP1_ENST00000560188.1_3'UTR|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	68					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TTATTCTATAGCATCAAAGGG	0.368																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(202-204)Gca>Aca		sperm equatorial segment protein 1							105.0	107.0	106.0					15																	69238075		2200	4298	6498	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238075G>A	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.202G>A	15.37:g.69238075G>A	ENSP00000312284:p.Ala68Thr					RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron	p.A68T	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN			2	356	+			68					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.202G>A	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	G	6.226	0.409882	0.11812	.	.	ENSG00000258484	ENST00000310673	T	0.23147	1.92	5.21	-0.685	0.11328	.	1.519990	0.04196	N	0.329090	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.23716	0.048	T	0.28681	-1.0036	10	0.40728	T	0.16	-1.6811	5.0363	0.14436	0.2807:0.2783:0.441:0.0	.	68	Q6UW49	SPESP_HUMAN	T	68	ENSP00000312284:A68T	ENSP00000312284:A68T	A	+	1	0	SPESP1	67025129	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.047000	0.14056	-0.013000	0.14199	-0.137000	0.14449	GCA		0.368	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		13	366	0	0	0	1	0	13	366				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	370	0	0	0	1	0	6	370				
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C	rs528924232		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:53856761T>C	ENST00000595091.1	+	5	3052	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000458035.1_Missense_Mutation_p.C945R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348																																						ENST00000458035.1																			1	Substitution - Missense(1)	p.C945R(1)	kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2833-2835)Tgt>Cgt		zinc finger protein 845							25.0	23.0	24.0					19																	53856761		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856761T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2833T>C	19.37:g.53856761T>C	ENSP00000470005:p.Cys945Arg					ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2950	+			945						Missense_Mutation	SNP	ENST00000595091.1	37	c.2833T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738844	0.15642	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	D	0.85258	-1.96	2.04	0.921	0.19403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94417	0.8204	H	0.99336	4.52	0.38301	D	0.942985	D	0.89917	1.0	D	0.91635	0.999	D	0.91222	0.5007	9	0.66056	D	0.02	.	6.1858	0.20495	0.2258:0.0:0.0:0.7742	.	945	Q96IR2	ZN845_HUMAN	R	945;861	ENSP00000388311:C945R	ENSP00000412086:C861R	C	+	1	0	ZNF845	58548573	1.000000	0.71417	0.080000	0.20451	0.053000	0.15095	4.520000	0.60524	0.031000	0.15407	-0.871000	0.02989	TGT		0.348	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	122	0	0	0	1	0	4	122				
OTOF	9381	broad.mit.edu	37	2	26683776	26683776	+	Missense_Mutation	SNP	C	C	T	rs373876327		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:26683776C>T	ENST00000272371.2	-	44	5782	c.5656G>A	c.(5656-5658)Gtc>Atc	p.V1886I	OTOF_ENST00000338581.6_Missense_Mutation_p.V1119I|OTOF_ENST00000403946.3_Missense_Mutation_p.V1886I|OTOF_ENST00000402415.3_Missense_Mutation_p.V1196I|OTOF_ENST00000339598.3_Missense_Mutation_p.V1119I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1886			V -> A (in dbSNP:rs45442103).		membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCTTTGACGCGCTTTTGC	0.647													c|||	1	0.000199681	0.0	0.0	5008	,	,		15202	0.001		0.0	False		,,,				2504	0.0				GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(5656-5658)Gtc>Atc		otoferlin			ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	86.0	70.0	75.0		3355,5656,3586,3355	3.8	1.0	2		75	0,8600		0,0,4300	no	missense,missense,missense,missense	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	1119/1231,1886/1998,1196/1308,1119/1231	26683776	1,13005	2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26683776C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5656G>A	2.37:g.26683776C>T	ENSP00000272371:p.Val1886Ile					OTOF_ENST00000339598.3_Missense_Mutation_p.V1119I|OTOF_ENST00000402415.3_Missense_Mutation_p.V1196I|OTOF_ENST00000338581.6_Missense_Mutation_p.V1119I|OTOF_ENST00000403946.3_Missense_Mutation_p.V1886I	p.V1886I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			44	5782	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1886		V -> A (in dbSNP:rs45442103).			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.5656G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	c	14.31	2.498530	0.44455	2.27E-4	0.0	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	4.73	3.85	0.44370	C2 calcium/lipid-binding domain, CaLB (1);	0.061467	0.64402	D	0.000005	T	0.65004	0.2650	L	0.35487	1.065	0.52501	D	0.999958	B;B;B;B	0.29909	0.261;0.042;0.036;0.018	B;B;B;B	0.22753	0.041;0.018;0.024;0.018	T	0.59695	-0.7406	10	0.26408	T	0.33	-24.5353	12.7675	0.57401	0.0:0.9189:0.0:0.0811	.	1886;1119;1196;1119	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	I	1119;1119;1196;1886;1886	ENSP00000345137:V1119I;ENSP00000344521:V1119I;ENSP00000383906:V1196I;ENSP00000272371:V1886I;ENSP00000385255:V1886I	ENSP00000272371:V1886I	V	-	1	0	OTOF	26537280	0.994000	0.37717	0.987000	0.45799	0.970000	0.65996	2.719000	0.47244	0.991000	0.38814	0.457000	0.33378	GTC		0.647	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			8	199	0	0	0	1	0	8	199				
BAGE2	85319	broad.mit.edu	37	21	11098772	11098772	+	RNA	SNP	C	C	T	rs75545872	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr21:11098772C>T	ENST00000470054.1	-	0	153							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)		ccgctcaggccgccctcctaa	0.622																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							84.0	121.0	109.0					21																	11098772		2144	4272	6416			85319							g.chr21:11098772C>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.11098772C>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	153	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.622	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	580	0	0	0	1	0	8	580				
RETSAT	54884	broad.mit.edu	37	2	85571180	85571180	+	Missense_Mutation	SNP	G	G	A	rs149307146		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:85571180G>A	ENST00000295802.4	-	9	1587	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	RETSAT_ENST00000263854.6_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.S431F|RETSAT_ENST00000475624.2_Intron	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	492					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)	p.S492F(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCCACAAAGGAGTTTTTGAA	0.537																																						ENST00000295802.4																			1	Substitution - Missense(1)	p.S492F(1)	endometrium(1)	NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1474-1476)tCc>tTc		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)	G	PHE/SER	0,4406		0,0,2203	98.0	106.0	104.0		1475	5.1	0.4	2	dbSNP_134	104	4,8596	3.0+/-9.4	0,4,4296	yes	missense	RETSAT	NM_017750.3	155	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	492/611	85571180	4,13002	2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85571180G>A	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1475C>T	2.37:g.85571180G>A	ENSP00000295802:p.Ser492Phe					RETSAT_ENST00000457495.2_Missense_Mutation_p.S431F|RETSAT_ENST00000263854.6_Intron|RETSAT_ENST00000475624.2_Intron	p.S492F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			9	1587	-			492					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1475C>T	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.76|15.76	2.928287|2.928287	0.52759|0.52759	0.0|0.0	4.65E-4|4.65E-4	ENSG00000042445|ENSG00000042445	ENST00000449375|ENST00000295802;ENST00000457495	.|T;T	.|0.23552	.|1.9;1.9	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.852245	.|0.10867	.|N	.|0.625371	T|T	0.36303|0.36303	0.0962|0.0962	M|M	0.65975|0.65975	2.015|2.015	0.35609|0.35609	D|D	0.808519|0.808519	.|P;P;P	.|0.48089	.|0.905;0.905;0.748	.|P;P;B	.|0.46585	.|0.521;0.521;0.243	T|T	0.45760|0.45760	-0.9239|-0.9239	5|10	.|0.56958	.|D	.|0.05	-8.7214|-8.7214	12.225|12.225	0.54455|0.54455	0.0:0.1718:0.8282:0.0|0.0:0.1718:0.8282:0.0	.|.	.|431;431;492	.|G5E9N3;B4DKE1;Q6NUM9	.|.;.;RETST_HUMAN	S|F	281|492;431	.|ENSP00000295802:S492F;ENSP00000405040:S431F	.|ENSP00000295802:S492F	P|S	-|-	1|2	0|0	RETSAT|RETSAT	85424691|85424691	0.967000|0.967000	0.33354|0.33354	0.392000|0.392000	0.26245|0.26245	0.722000|0.722000	0.41435|0.41435	3.004000|3.004000	0.49513|0.49513	2.561000|2.561000	0.86390|0.86390	0.561000|0.561000	0.74099|0.74099	CCT|TCC		0.537	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		6	448	0	0	0	1	0	6	448				
WDR60	55112	broad.mit.edu	37	7	158716310	158716310	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:158716310G>A	ENST00000407559.3	+	17	2301	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	715					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACTGTTTGCCGGAACAGCGCA	0.502																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(2143-2145)Gga>Aga		WD repeat domain 60							144.0	148.0	146.0					7																	158716310		2177	4285	6462	SO:0001583	missense	55112							g.chr7:158716310G>A		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2143G>A	7.37:g.158716310G>A	ENSP00000384290:p.Gly715Arg						p.G715R	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	17	2301	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	715					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.2143G>A	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305740	0.23736	.	.	ENSG00000126870	ENST00000407559	D	0.86164	-2.08	5.19	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.954	D	0.95188	0.8305	10	0.87932	D	0	-33.8171	17.2998	0.87180	0.0:0.0:1.0:0.0	.	198;715	A4D230;Q8WVS4	.;WDR60_HUMAN	R	715	ENSP00000384290:G715R	ENSP00000384290:G715R	G	+	1	0	WDR60	158409071	1.000000	0.71417	0.187000	0.23214	0.081000	0.17604	7.228000	0.78079	2.407000	0.81776	0.655000	0.94253	GGA		0.502	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		5	397	0	0	0	1	0	5	397				
NPAT	4863	broad.mit.edu	37	11	108032402	108032402	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:108032402C>T	ENST00000278612.8	-	17	3516	c.3411G>A	c.(3409-3411)cgG>cgA	p.R1137R		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1137					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1137R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGTGGTATGCCGGCTAATGG	0.383																																						ENST00000278612.8																			1	Substitution - coding silent(1)	p.R1137R(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(3409-3411)cgG>cgA		nuclear protein, ataxia-telangiectasia locus							83.0	77.0	79.0					11																	108032402		1823	4075	5898	SO:0001819	synonymous_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108032402C>T	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3411G>A	11.37:g.108032402C>T							p.R1137R	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	3516	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1137					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	c.3411G>A	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.684198	0.00745	.	.	ENSG00000149308	ENST00000527296	.	.	.	5.55	-1.78	0.07957	.	.	.	.	.	T	0.36853	0.0982	.	.	.	0.22571	N	0.998978	.	.	.	.	.	.	T	0.39418	-0.9615	4	.	.	.	-6.4166	13.0217	0.58791	0.0:0.2324:0.0:0.7676	.	.	.	.	D	136	.	.	G	-	2	0	NPAT	107537612	0.916000	0.31088	0.427000	0.26684	0.019000	0.09904	0.065000	0.14466	-0.204000	0.10235	-0.345000	0.07892	GGC		0.383	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		7	307	0	0	0	1	0	7	307				
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200299226	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				ERCC8_ENST00000265038.5_5'Flank|ERCC8_ENST00000543101.1_5'Flank|NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame|ERCC8_ENST00000426742.2_5'Flank	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2						negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632																																						ENST00000296597.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6								NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							29.0	29.0	29.0					5																	60241050		2203	4300	6503			91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60241050G>A	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.-33G>A	5.37:g.60241050G>A						NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame		NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN			0	95	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)						A8K5I1	Translation_Start_Site	SNP	ENST00000296597.5	37		CCDS3979.1																																																																																				0.632	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		6	48	0	0	0	1	0	6	48				
ZNF99	7652	broad.mit.edu	37	19	22941336	22941336	+	Missense_Mutation	SNP	T	T	C	rs386808002|rs188302239	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:22941336T>C	ENST00000596209.1	-	4	1465	c.1375A>G	c.(1375-1377)Agc>Ggc	p.S459G	ZNF99_ENST00000397104.3_Missense_Mutation_p.S368G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTGCTGCATTCTTCA	0.358																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1102-1104)Agc>Ggc		zinc finger protein 99																																				SO:0001583	missense	7652							g.chr19:22941336T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1375A>G	19.37:g.22941336T>C	ENSP00000472969:p.Ser459Gly					ZNF99_ENST00000596209.1_Missense_Mutation_p.S459G	p.S368G							5	1101	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1102A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.143342	0.00332	.	.	ENSG00000213973	ENST00000397104	T	0.07688	3.17	1.28	0.0685	0.14370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01627	0.0052	N	0.00514	-1.41	0.20074	N	0.999934	B	0.02656	0.0	B	0.01281	0.0	T	0.44636	-0.9315	9	0.02654	T	1	.	3.8246	0.08849	0.0:0.5767:0.2474:0.1759	.	368	A8MXY4	ZNF99_HUMAN	G	368	ENSP00000380293:S368G	ENSP00000380293:S368G	S	-	1	0	ZNF99	22733176	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	0.289000	0.18957	-0.133000	0.11537	-0.751000	0.03497	AGC		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	199	0	0	0	1	0	4	199				
KRTAP5-8	57830	broad.mit.edu	37	11	71249558	71249558	+	Missense_Mutation	SNP	T	T	A	rs374587723		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:71249558T>A	ENST00000398534.3	+	1	488	c.457T>A	c.(457-459)Tgc>Agc	p.C153S		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	153	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TAAGCCCTGCTGCTGCTCTTC	0.602																																						ENST00000398534.3																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(457-459)Tgc>Agc		keratin associated protein 5-8							176.0	180.0	178.0					11																	71249558		2200	4294	6494	SO:0001583	missense	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249558T>A	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.457T>A	11.37:g.71249558T>A	ENSP00000420723:p.Cys153Ser						p.C153S	NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN			1	488	+			153			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	c.457T>A	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	12.36	1.913624	0.33815	.	.	ENSG00000241233	ENST00000398534	T	0.01767	4.65	1.63	0.358	0.16084	.	.	.	.	.	T	0.04003	0.0112	M	0.90252	3.1	0.24313	N	0.995073	B	0.02656	0.0	B	0.06405	0.002	T	0.27434	-1.0074	9	0.52906	T	0.07	.	4.9425	0.13973	0.2691:0.0:0.0:0.7308	.	153	O75690	KRA58_HUMAN	S	153	ENSP00000420723:C153S	ENSP00000420723:C153S	C	+	1	0	KRTAP5-8	70927206	0.006000	0.16342	0.812000	0.32479	0.182000	0.23217	0.150000	0.16263	0.076000	0.16826	0.459000	0.35465	TGC		0.602	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		10	1069	0	0	0	1	0	10	1069				
THBS2	7058	broad.mit.edu	37	6	169622382	169622382	+	Silent	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:169622382G>A	ENST00000366787.3	-	20	3432	c.3183C>T	c.(3181-3183)tcC>tcT	p.S1061S	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1061	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGGACACGCCGGAGTAGCCAT	0.637																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(3181-3183)tcC>tcT		thrombospondin 2							46.0	42.0	44.0					6																	169622382		2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169622382G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3183C>T	6.37:g.169622382G>A						XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	p.S1061S	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	20	3432	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	1061			TSP C-terminal.		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.3183C>T	CCDS34574.1																																																																																				0.637	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		6	105	0	0	0	1	0	6	105				
GLI3	2737	broad.mit.edu	37	7	42188061	42188061	+	Missense_Mutation	SNP	T	T	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:42188061T>A	ENST00000395925.3	-	3	215	c.131A>T	c.(130-132)gAa>gTa	p.E44V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	44					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCCAGGACTTTCATCCTCTAA	0.403									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(130-132)gAa>gTa		GLI family zinc finger 3							98.0	93.0	95.0					7																	42188061		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42188061T>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.131A>T	7.37:g.42188061T>A	ENSP00000379258:p.Glu44Val					GLI3_ENST00000479210.1_5'UTR	p.E44V	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			3	215	-			44					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.131A>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405126	0.83230	.	.	ENSG00000106571	ENST00000395925;ENST00000448703	T	0.17854	2.25	5.67	5.67	0.87782	.	0.101413	0.64402	D	0.000003	T	0.27559	0.0677	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.04281	-1.0963	10	0.87932	D	0	.	15.9002	0.79369	0.0:0.0:0.0:1.0	.	44	P10071	GLI3_HUMAN	V	44	ENSP00000379258:E44V	ENSP00000379258:E44V	E	-	2	0	GLI3	42154586	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.669000	0.83911	2.161000	0.67846	0.455000	0.32223	GAA		0.403	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		7	260	0	0	0	1	0	7	260				
PTPRG	5793	broad.mit.edu	37	3	62257096	62257096	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:62257096G>T	ENST00000474889.1	+	21	3425	c.3048G>T	c.(3046-3048)agG>agT	p.R1016S	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R987S|PTPRG-AS1_ENST00000495542.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1016	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGAATGAAAGGGTAGTGATCC	0.478																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3046-3048)agG>agT		protein tyrosine phosphatase, receptor type, G							102.0	101.0	101.0					3																	62257096		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62257096G>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3048G>T	3.37:g.62257096G>T	ENSP00000418112:p.Arg1016Ser					PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R987S|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA	p.R1016S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	21	3425	+			1016			Tyrosine-protein phosphatase 1.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.3048G>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341750	0.61073	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.15017	2.46;2.46	5.74	2.67	0.31697	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.45175	0.1329	H	0.94582	3.555	0.44079	D	0.996834	P;D;D	0.69078	0.6;0.997;0.997	B;D;D	0.65010	0.382;0.931;0.922	T	0.40905	-0.9538	10	0.87932	D	0	.	6.245	0.20811	0.2928:0.0:0.567:0.1403	.	262;987;1016	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	S	1016;987	ENSP00000418112:R1016S;ENSP00000295874:R987S	ENSP00000295874:R987S	R	+	3	2	PTPRG	62232136	0.062000	0.20869	0.021000	0.16686	0.953000	0.61014	0.448000	0.21726	0.299000	0.22661	0.591000	0.81541	AGG		0.478	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		10	225	1	0	0.000673444	1	0.000702981	10	225				
ERLIN1	10613	broad.mit.edu	37	10	101911917	101911917	+	Missense_Mutation	SNP	C	C	T	rs373292585		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr10:101911917C>T	ENST00000421367.2	-	11	3725	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	ERLIN1_ENST00000407654.3_Missense_Mutation_p.V340I	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	338					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)							Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		TTTTGGATGACGTTCTCTCCA	0.458																																						ENST00000421367.2																			0											c.(1018-1020)Gtc>Atc		ER lipid raft associated 1							101.0	93.0	96.0					10																	101911917		2203	4300	6503	SO:0001583	missense	10613				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr10:101911917C>T	AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"""Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"""	611604	"""chromosome 10 open reading frame 69"", ""SPFH domain family, member 1"""	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.1018G>A	10.37:g.101911917C>T	ENSP00000410964:p.Val340Ile					ERLIN1_ENST00000407654.3_Missense_Mutation_p.V340I	p.V340I	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)	11	3725	-		Colorectal(252;0.234)	338					B0QZ42|Q53HV0	Missense_Mutation	SNP	ENST00000421367.2	37	c.1018G>A	CCDS7487.2	.	.	.	.	.	.	.	.	.	.	C	9.042	0.990018	0.18966	.	.	ENSG00000107566	ENST00000421367;ENST00000407654	T;T	0.63417	-0.04;-0.04	5.61	0.201	0.15186	.	0.689394	0.13155	U	0.409529	T	0.33556	0.0867	N	0.08118	0	0.09310	N	0.999999	B;B	0.10296	0.0;0.003	B;B	0.06405	0.0;0.002	T	0.12502	-1.0545	10	0.30078	T	0.28	-15.3852	3.2164	0.06700	0.0833:0.2748:0.3616:0.2804	.	338;340	O75477;D3DR65	ERLN1_HUMAN;.	I	340	ENSP00000410964:V340I;ENSP00000384900:V340I	ENSP00000384900:V340I	V	-	1	0	ERLIN1	101901907	1.000000	0.71417	0.942000	0.38095	0.963000	0.63663	1.330000	0.33781	-0.138000	0.11434	-0.228000	0.12330	GTC		0.458	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049840.2	NM_006459		6	132	0	0	0	1	0	6	132				
WASH3P	374666	broad.mit.edu	37	15	102516473	102516473	+	RNA	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:102516473G>A	ENST00000557932.1	+	0	1421				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ATCCTAGGGGGCTCCATGACA	0.642																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102516473G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516473G>A														0	1421	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.642	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		17	325	0	0	0	1	0	17	325				
MYH11	4629	broad.mit.edu	37	16	15931828	15931828	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:15931828C>T	ENST00000300036.5	-	2	391	c.282G>A	c.(280-282)acG>acA	p.T94T	MYH11_ENST00000396324.3_Silent_p.T94T|MYH11_ENST00000576790.2_Silent_p.T94T|MYH11_ENST00000452625.2_Silent_p.T94T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	94	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGTTGAGGCACGTCAGCTCCG	0.547			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(280-282)acG>acA		myosin, heavy chain 11, smooth muscle							241.0	195.0	210.0					16																	15931828		2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15931828C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.282G>A	16.37:g.15931828C>T						MYH11_ENST00000300036.5_Silent_p.T94T|MYH11_ENST00000576790.1_Silent_p.T94T|MYH11_ENST00000452625.2_Silent_p.T94T|MYH11_ENST00000396324.3_Silent_p.T94T	p.T94T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			2	388	-			94			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.282G>A	CCDS10565.1																																																																																				0.547	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		16	411	0	0	0	1	0	16	411				
SLIT3	6586	broad.mit.edu	37	5	168310293	168310293	+	Silent	SNP	G	G	A	rs372146302	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:168310293G>A	ENST00000519560.1	-	5	881	c.462C>T	c.(460-462)cgC>cgT	p.R154R	SLIT3_ENST00000404867.3_Silent_p.R154R|SLIT3_ENST00000332966.8_Silent_p.R154R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	154					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGTGATGCCGCGGAACGCCT	0.502													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18893	0.001		0.0	False		,,,				2504	0.0				Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(460-462)cgC>cgT		slit homolog 3 (Drosophila)		G		0,4406		0,0,2203	130.0	107.0	115.0		462	-9.9	0.0	5		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLIT3	NM_003062.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		154/1524	168310293	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168310293G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.462C>T	5.37:g.168310293G>A						SLIT3_ENST00000332966.8_Silent_p.R154R|SLIT3_ENST00000404867.3_Silent_p.R154R	p.R154R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	881	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	154					A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.462C>T	CCDS4369.1																																																																																				0.502	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		7	240	0	0	0	1	0	7	240				
TUBB8P7	197331	broad.mit.edu	37	16	90161585	90161585	+	RNA	SNP	C	C	A	rs3812542	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:90161585C>A	ENST00000564451.1	+	0	938				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		GACGCTACACCGAAGGCGCGG	0.597																																						ENST00000564451.1																			0																																																			0							g.chr16:90161585C>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161585C>A						TUBB8P7_ENST00000567960.1_RNA								0	938	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.597	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	161	1	0	1.42536e-11	1	1.60016e-11	4	161				
TTLL2	83887	broad.mit.edu	37	6	167753613	167753613	+	Silent	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:167753613G>A	ENST00000239587.5	+	3	313	c.225G>A	c.(223-225)gcG>gcA	p.A75A		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	75					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.A75A(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATTTGATGGCGGAAGATGAAC	0.507																																						ENST00000239587.5																			1	Substitution - coding silent(1)	p.A75A(1)	lung(1)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(223-225)gcG>gcA		tubulin tyrosine ligase-like family, member 2							54.0	58.0	57.0					6																	167753613		2203	4300	6503	SO:0001819	synonymous_variant	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167753613G>A	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.225G>A	6.37:g.167753613G>A							p.A75A	NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	313	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	75					B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	c.225G>A	CCDS5301.1																																																																																				0.507	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		5	286	0	0	0	1	0	5	286				
ZNF675	171392	broad.mit.edu	37	19	23836697	23836697	+	Silent	SNP	T	T	G			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:23836697T>G	ENST00000359788.4	-	4	1206	c.1038A>C	c.(1036-1038)ggA>ggC	p.G346G	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	346					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TAAAAGCTTTTCCACATTCTT	0.383																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1036-1038)ggA>ggC		zinc finger protein 675							53.0	55.0	54.0					19																	23836697		2203	4300	6503	SO:0001819	synonymous_variant	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836697T>G		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1038A>C	19.37:g.23836697T>G						ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	p.G346G	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	1206	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	346					Q8N211	Silent	SNP	ENST00000359788.4	37	c.1038A>C	CCDS32981.1																																																																																				0.383	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		5	255	0	0	0	1	0	5	255				
IZUMO1	284359	broad.mit.edu	37	19	49245081	49245081	+	Missense_Mutation	SNP	G	G	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:49245081G>C	ENST00000332955.2	-	8	1266	c.719C>G	c.(718-720)tCc>tGc	p.S240C	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	240	Ig-like C2-type.				cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGCTGGGCTGGAATTCACAGA	0.607																																						ENST00000332955.2																			0				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(718-720)tCc>tGc		izumo sperm-egg fusion 1							46.0	45.0	45.0					19																	49245081		2203	4300	6503	SO:0001583	missense	284359				fusion of sperm to egg plasma membrane	integral to membrane		g.chr19:49245081G>C	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.719C>G	19.37:g.49245081G>C	ENSP00000327786:p.Ser240Cys						p.S240C	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	8	1266	-		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)	240			Ig-like C2-type.		Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	c.719C>G	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764786	0.69878	.	.	ENSG00000182264	ENST00000332955	D	0.84223	-1.82	5.26	-1.64	0.08318	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.688430	0.01088	N	0.005125	D	0.86594	0.5970	L	0.27053	0.805	0.09310	N	1	D	0.69078	0.997	P	0.57468	0.821	T	0.76751	-0.2844	10	0.56958	D	0.05	0.0117	15.0773	0.72087	0.0:0.0:0.1984:0.8016	.	240	Q8IYV9	IZUM1_HUMAN	C	240	ENSP00000327786:S240C	ENSP00000327786:S240C	S	-	2	0	IZUMO1	53936893	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-0.261000	0.08694	-0.282000	0.09128	0.561000	0.74099	TCC		0.607	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		8	173	0	0	0	1	0	8	173				
RNF10	9921	broad.mit.edu	37	12	121000776	121000776	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:121000776C>T	ENST00000325954.4	+	8	1618	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	RNF10_ENST00000413266.2_Missense_Mutation_p.A386V	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	386					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGGGATTGGCCGGAAGCAGA	0.542																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(1156-1158)gCc>gTc		ring finger protein 10							151.0	134.0	140.0					12																	121000776		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121000776C>T	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1157C>T	12.37:g.121000776C>T	ENSP00000322242:p.Ala386Val					RNF10_ENST00000413266.2_Missense_Mutation_p.A386V	p.A386V	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			8	1618	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		386					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.1157C>T	CCDS9201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.04|15.04	2.715693|2.715693	0.48622|0.48622	.|.	.|.	ENSG00000022840|ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000542438;ENST00000413266|ENST00000537740	D;D|.	0.89270|.	-2.49;-2.48|.	5.5|5.5	4.55|4.55	0.56014|0.56014	.|.	0.823828|.	0.11705|.	N|.	0.537503|.	T|T	0.46328|0.46328	0.1387|0.1387	L|L	0.29908|0.29908	0.895|0.895	0.35161|0.35161	D|D	0.770683|0.770683	B;B|.	0.21071|.	0.051;0.039|.	B;B|.	0.24541|.	0.054;0.019|.	T|T	0.50833|0.50833	-0.8781|-0.8781	10|5	0.22706|.	T|.	0.39|.	.|.	10.6165|10.6165	0.45454|0.45454	0.2039:0.7961:0.0:0.0|0.2039:0.7961:0.0:0.0	.|.	386;386|.	Q8N5U6-2;Q8N5U6|.	.;RNF10_HUMAN|.	V|S	386;386;116;386|64	ENSP00000322242:A386V;ENSP00000415682:A386V|.	ENSP00000322242:A386V|.	A|P	+|+	2|1	0|0	RNF10|RNF10	119485159|119485159	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.549000|0.549000	0.35272|0.35272	1.456000|1.456000	0.35201|0.35201	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.542	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			5	221	0	0	0	1	0	5	221				
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	lincRNA	SNP	G	G	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:45848224G>T	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TGCAGATTTTGTTTAGCTTTT	0.318																																						ENST00000409454.1																			0																																																			0							g.chr15:45848224G>T																													15.37:g.45848224G>T														0	1219	+									RNA	SNP	ENST00000557965.1	37																																																																																						0.318	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			10	62	1	0	0.000219431	1	0.000233146	10	62				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>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.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	480	0	0	0	1	0	7	480				
RASGEF1C	255426	broad.mit.edu	37	5	179545648	179545648	+	Silent	SNP	C	C	T	rs201724936		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:179545648C>T	ENST00000393371.2	-	9	1340	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A	RASGEF1C_ENST00000361132.4_Silent_p.A348A|RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000522500.1_Silent_p.A197A			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	348	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGTGGGCCGCCCCGCGCA	0.667																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(1042-1044)gcG>gcA		RasGEF domain family, member 1C		C		0,4404		0,0,2202	53.0	62.0	59.0		1044	-8.4	0.4	5		59	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	RASGEF1C	NM_175062.3		0,4,6498	TT,TC,CC		0.0465,0.0,0.0308		348/467	179545648	4,13000	2202	4300	6502	SO:0001819	synonymous_variant	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179545648C>T	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1044G>A	5.37:g.179545648C>T						RASGEF1C_ENST00000361132.4_Silent_p.A348A|RASGEF1C_ENST00000522500.1_Silent_p.A197A	p.A348A			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1340	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	348			Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Silent	SNP	ENST00000393371.2	37	c.1044G>A	CCDS4452.1																																																																																				0.667	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		10	298	0	0	0	1	0	10	298				
LOC101927905	101927905	broad.mit.edu	37	12	8388326	8388326	+	lincRNA	SNP	G	G	C	rs113732517	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:8388326G>C	ENST00000304751.9	+	0	316				FAM86FP_ENST00000427893.2_RNA																							CGAGCCTCCCGAGGGCTGCAC	0.577																																						ENST00000304751.9																			0																																																			0							g.chr12:8388326G>C																													12.37:g.8388326G>C						FAM86FP_ENST00000427893.2_RNA								0	316	+									RNA	SNP	ENST00000304751.9	37																																																																																						0.577	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			4	160	0	0	0	1	0	4	160				
CROCCP2	84809	broad.mit.edu	37	1	16952952	16952952	+	lincRNA	SNP	G	G	A	rs1762946	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:16952952G>A	ENST00000412962.1	-	0	664							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCTGCCCTCAGCTTGGTCACG	0.622																																						ENST00000412962.1																			0																																																			0							g.chr1:16952952G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16952952G>A														0	664	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.622	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		13	121	0	0	0	1	0	13	121				
E2F7	144455	broad.mit.edu	37	12	77423797	77423797	+	Silent	SNP	C	C	T	rs368328521		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:77423797C>T	ENST00000322886.7	-	10	1933	c.1698G>A	c.(1696-1698)gcG>gcA	p.A566A	E2F7_ENST00000416496.2_Silent_p.A566A	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	566					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGACCCTGACGCTGGTCCCT	0.582																																						ENST00000322886.7																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(1696-1698)gcG>gcA		E2F transcription factor 7							100.0	92.0	94.0					12																	77423797		2203	4300	6503	SO:0001819	synonymous_variant	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77423797C>T	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1698G>A	12.37:g.77423797C>T						E2F7_ENST00000416496.2_Silent_p.A566A	p.A566A	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			10	1933	-			566					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Silent	SNP	ENST00000322886.7	37	c.1698G>A	CCDS9016.1																																																																																				0.582	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		12	372	0	0	0	1	0	12	372				
TNRC18	84629	broad.mit.edu	37	7	5348537	5348537	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:5348537C>T	ENST00000430969.1	-	29	9017	c.8669G>A	c.(8668-8670)cGg>cAg	p.R2890Q	TNRC18_ENST00000399537.4_Missense_Mutation_p.R2890Q	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2890	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCTGGAGACCCGCAGGGCCGC	0.692																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(8668-8670)cGg>cAg		trinucleotide repeat containing 18																																				SO:0001583	missense	84629						DNA binding	g.chr7:5348537C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8669G>A	7.37:g.5348537C>T	ENSP00000395538:p.Arg2890Gln					TNRC18_ENST00000430969.1_Missense_Mutation_p.R2890Q	p.R2890Q			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	29	9017	-		Ovarian(82;0.142)	2890			BAH.		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.8669G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	14.86	2.660370	0.47572	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.11277	2.8;2.79	5.0	2.82	0.32997	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	T	0.02571	0.0078	N	0.00707	-1.245	0.28558	N	0.911263	B	0.14438	0.01	B	0.09377	0.004	T	0.43426	-0.9392	9	0.11794	T	0.64	.	5.5005	0.16827	0.0:0.335:0.0:0.665	.	2890	O15417	TNC18_HUMAN	Q	2890	ENSP00000382452:R2890Q;ENSP00000395538:R2890Q	ENSP00000382452:R2890Q	R	-	2	0	TNRC18	5315063	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	4.659000	0.61504	0.425000	0.26087	0.561000	0.74099	CGG		0.692	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	65	0	0	0	1	0	4	65				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"""		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(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	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	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.chr17:7577548C>T	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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	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_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	p.G245S	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	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	232	0	0	0	1	0	4	232				
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367483.4_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	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						CACCCACCACCCCCAAGGAGC	0.637																																						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.(1129-1131)acC>acT		proteoglycan 4							171.0	164.0	166.0					1																	186275982		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275982C>T	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.1131C>T	1.37:g.186275982C>T						PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T	p.T377T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1176	+			377			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1131C>T	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	475	0	0	0	1	0	7	475				
HIVEP2	3097	broad.mit.edu	37	6	143091520	143091520	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:143091520C>A	ENST00000367604.1	-	4	4995	c.4356G>T	c.(4354-4356)atG>atT	p.M1452I	HIVEP2_ENST00000012134.2_Missense_Mutation_p.M1452I|HIVEP2_ENST00000367603.2_Missense_Mutation_p.M1452I			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCTTGGTTTCCATGAAGAGCT	0.512																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(4354-4356)atG>atT		human immunodeficiency virus type I enhancer binding protein 2							142.0	146.0	145.0					6																	143091520		1981	4161	6142	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143091520C>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4356G>T	6.37:g.143091520C>A	ENSP00000356576:p.Met1452Ile					HIVEP2_ENST00000367604.1_Missense_Mutation_p.M1452I|HIVEP2_ENST00000012134.2_Missense_Mutation_p.M1452I	p.M1452I	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	5098	-			1452					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.4356G>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641175	0.29157	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.03065	4.06;4.06;4.06	5.81	5.81	0.92471	.	0.076260	0.85682	D	0.000000	T	0.04092	0.0114	M	0.70787	2.145	0.48901	D	0.999729	B	0.22683	0.073	B	0.15052	0.012	T	0.23440	-1.0188	10	0.49607	T	0.09	-19.6967	20.0826	0.97783	0.0:1.0:0.0:0.0	.	1452	P31629	ZEP2_HUMAN	I	1452	ENSP00000356576:M1452I;ENSP00000356575:M1452I;ENSP00000012134:M1452I	ENSP00000012134:M1452I	M	-	3	0	HIVEP2	143133213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.156000	0.42310	2.746000	0.94184	0.655000	0.94253	ATG		0.512	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			7	252	1	0	0.00198382	1	0.00203512	7	252				
GEN1	348654	broad.mit.edu	37	2	17963200	17963200	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:17963200C>T	ENST00000381254.2	+	14	2935	c.2721C>T	c.(2719-2721)agC>agT	p.S907S	GEN1_ENST00000317402.7_Silent_p.S907S|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	907					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATTCCAAAGCACTTGAAATT	0.348								Homologous recombination																														ENST00000381254.2																			0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(2719-2721)agC>agT	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							44.0	49.0	47.0					2																	17963200		2178	4292	6470	SO:0001819	synonymous_variant	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17963200C>T	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.2721C>T	2.37:g.17963200C>T						GEN1_ENST00000317402.7_Silent_p.S907S|SMC6_ENST00000402989.1_Intron	p.S907S	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			14	2935	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		907					Q17RS9|Q6ZN37	Silent	SNP	ENST00000381254.2	37	c.2721C>T	CCDS1691.1																																																																																				0.348	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		6	172	0	0	0	1	0	6	172				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	241	0	0	0	1	0	6	241				
CCDC67	159989	broad.mit.edu	37	11	93088643	93088643	+	Nonsense_Mutation	SNP	C	C	T	rs374648091		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:93088643C>T	ENST00000298050.3	+	3	236	c.136C>T	c.(136-138)Cga>Tga	p.R46*	CCDC67_ENST00000530053.1_3'UTR|CCDC67_ENST00000527307.1_Nonsense_Mutation_p.R46*	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	46					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTTGGAGACACGATTAGATCT	0.388																																						ENST00000298050.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(136-138)Cga>Tga		coiled-coil domain containing 67							105.0	107.0	106.0					11																	93088643		1879	4099	5978	SO:0001587	stop_gained	159989							g.chr11:93088643C>T	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.136C>T	11.37:g.93088643C>T	ENSP00000298050:p.Arg46*					CCDC67_ENST00000530053.1_3'UTR|CCDC67_ENST00000527307.1_Nonsense_Mutation_p.R46*	p.R46*	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN			3	236	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	46					Q8NEF1|Q96LL7	Nonsense_Mutation	SNP	ENST00000298050.3	37	c.136C>T	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645274	0.87859	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000527307	.	.	.	5.54	1.18	0.20946	.	0.445552	0.20432	N	0.092454	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	5.1073	0.14790	0.4125:0.4189:0.0919:0.0768	.	.	.	.	X	46	.	ENSP00000298050:R46X	R	+	1	2	CCDC67	92728291	0.998000	0.40836	0.995000	0.50966	0.994000	0.84299	1.260000	0.32968	0.656000	0.30886	0.491000	0.48974	CGA		0.388	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		11	189	0	0	0	1	0	11	189				
CNTNAP5	129684	broad.mit.edu	37	2	125192175	125192175	+	Missense_Mutation	SNP	A	A	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:125192175A>T	ENST00000431078.1	+	5	1008	c.644A>T	c.(643-645)gAt>gTt	p.D215V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	215	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATGCAAGGAGATGGGGTCCTG	0.507																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(643-645)gAt>gTt		contactin associated protein-like 5							97.0	98.0	97.0					2																	125192175		2075	4225	6300	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125192175A>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.644A>T	2.37:g.125192175A>T	ENSP00000399013:p.Asp215Val						p.D215V	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	5	1008	+			215			Laminin G-like 1.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.644A>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370207	0.82573	.	.	ENSG00000155052	ENST00000431078	T	0.80909	-1.43	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.49305	D	0.000151	D	0.91257	0.7244	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93000	0.6422	10	0.87932	D	0	.	14.7735	0.69699	1.0:0.0:0.0:0.0	.	215	Q8WYK1	CNTP5_HUMAN	V	215	ENSP00000399013:D215V	ENSP00000399013:D215V	D	+	2	0	CNTNAP5	124908645	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	9.169000	0.94788	2.084000	0.62774	0.533000	0.62120	GAT		0.507	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			8	204	0	0	0	1	0	8	204				
ATP2A1	487	broad.mit.edu	37	16	28909687	28909687	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:28909687G>A	ENST00000357084.3	+	14	1946	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	ATP2A1_ENST00000395503.4_Missense_Mutation_p.R560H|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R435H	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	560					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GACACCCTGCGCTGCTTGGCC	0.637																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(1678-1680)cGc>cAc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							42.0	47.0	45.0					16																	28909687		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28909687G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1679G>A	16.37:g.28909687G>A	ENSP00000349595:p.Arg560His					ATP2A1_ENST00000536376.1_Missense_Mutation_p.R435H|ATP2A1_ENST00000357084.3_Missense_Mutation_p.R560H	p.R560H	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			14	1863	+			560					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.1679G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006056	0.93287	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.94862	-3.54;-3.54;-3.54	5.43	4.46	0.54185	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.98710	0.9567	H	0.99777	4.77	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.98994	1.0809	10	0.87932	D	0	.	15.1782	0.72931	0.0:0.142:0.858:0.0	.	435;560;560	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	H	560;560;597;435	ENSP00000349595:R560H;ENSP00000378879:R560H;ENSP00000443101:R435H	ENSP00000349595:R560H	R	+	2	0	ATP2A1	28817188	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.735000	0.98825	1.267000	0.44247	0.655000	0.94253	CGC		0.637	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		12	230	0	0	0	1	0	12	230				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		5	125	0	0	0	1	0	5	125				
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|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)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3																			5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala						p.T537A	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		6	359	0	0	0	1	0	6	359				
KRTAP5-3	387266	broad.mit.edu	37	11	1629152	1629152	+	Missense_Mutation	SNP	C	C	A	rs548851553		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:1629152C>A	ENST00000399685.1	-	1	541	c.464G>T	c.(463-465)tGc>tTc	p.C155F		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	155	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)		GGACTGGGAGCAGCTGGGCTT	0.627																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(463-465)tGc>tTc		keratin associated protein 5-3							130.0	142.0	138.0					11																	1629152		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629152C>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.464G>T	11.37:g.1629152C>A	ENSP00000382592:p.Cys155Phe						p.C155F	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	541	-		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)	155			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.464G>T	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	9.096	1.002952	0.19121	.	.	ENSG00000196224	ENST00000399685	T	0.01613	4.73	3.33	3.33	0.38152	.	.	.	.	.	T	0.16727	0.0402	H	0.97465	4.01	0.36390	D	0.86243	D	0.71674	0.998	D	0.70935	0.971	T	0.44159	-0.9346	9	0.72032	D	0.01	.	12.975	0.58532	0.0:1.0:0.0:0.0	.	155	Q6L8H2	KRA53_HUMAN	F	155	ENSP00000382592:C155F	ENSP00000382592:C155F	C	-	2	0	KRTAP5-3	1585728	.	.	0.662000	0.29724	0.024000	0.10985	.	.	1.809000	0.52856	0.281000	0.19383	TGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			7	923	1	0	1.12685e-05	1	1.20807e-05	7	923				
SRGAP3	9901	broad.mit.edu	37	3	9036070	9036070	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:9036070C>T	ENST00000383836.3	-	19	2792	c.2365G>A	c.(2365-2367)Gtg>Atg	p.V789M	SRGAP3_ENST00000360413.3_Missense_Mutation_p.V765M	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	789					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGTCCATCCACGCCGTTGTGC	0.577			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2365-2367)Gtg>Atg		SLIT-ROBO Rho GTPase activating protein 3							88.0	88.0	88.0					3																	9036070		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9036070C>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2365G>A	3.37:g.9036070C>T	ENSP00000373347:p.Val789Met					SRGAP3_ENST00000360413.3_Missense_Mutation_p.V765M	p.V789M	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	19	2792	-			789					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.2365G>A	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461566	0.84317	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.48522	0.81;0.81	4.95	4.95	0.65309	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	L	0.31420	0.93	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.945	T	0.55560	-0.8122	10	0.34782	T	0.22	.	18.1343	0.89612	0.0:1.0:0.0:0.0	.	765;789	O43295-2;O43295	.;SRGP2_HUMAN	M	789;765	ENSP00000373347:V789M;ENSP00000353587:V765M	ENSP00000353587:V765M	V	-	1	0	SRGAP3	9011070	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.879000	0.63100	2.433000	0.82419	0.650000	0.86243	GTG		0.577	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			12	329	0	0	0	1	0	12	329				
NELFE	7936	broad.mit.edu	37	6	31922356	31922356	+	Silent	SNP	G	G	T	rs201903649		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:31922356G>T	ENST00000375429.3	-	7	944	c.718C>A	c.(718-720)Cga>Aga	p.R240R	MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000375425.5_Silent_p.R247R|NELFE_ENST00000444811.2_Silent_p.R210R	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	240	30 X 2 AA approximate tandem repeats of R-[DSNE].				gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										tctcggtctcggtctcgatcc	0.572																																						ENST00000375429.3																			0											c.(718-720)Cga>Aga		negative elongation factor complex member E							52.0	57.0	56.0					6																	31922356		2203	4300	6503	SO:0001819	synonymous_variant	7936							g.chr6:31922356G>T	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.718C>A	6.37:g.31922356G>T						NELFE_ENST00000444811.2_Silent_p.R210R|NELFE_ENST00000375425.5_Silent_p.R247R	p.R240R	NM_002904.5	NP_002895.3					7	944	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	ENST00000375429.3	37	c.718C>A	CCDS4730.1																																																																																				0.572	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			6	171	1	0	0.00621372	1	0.00626637	6	171				
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667																																						ENST00000391413.2																			6	Substitution - coding silent(6)	p.R51R(6)	endometrium(3)|kidney(2)|lung(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)agG>agA		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274415		682	1579	2261	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274415C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.153G>A	17.37:g.39274415C>T							p.R51R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	191	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.153G>A	CCDS45675.1																																																																																				0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			6	195	0	0	0	1	0	6	195				
CPT1A	1374	broad.mit.edu	37	11	68549244	68549244	+	Silent	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:68549244G>A	ENST00000265641.5	-	11	1501	c.1347C>T	c.(1345-1347)taC>taT	p.Y449Y	CPT1A_ENST00000376618.2_Silent_p.Y449Y|CPT1A_ENST00000540367.1_Silent_p.Y449Y|CPT1A_ENST00000539743.1_Silent_p.Y449Y	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	449					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTACCTGTCGTAACATCGGC	0.473																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1345-1347)taC>taT		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						317.0	253.0	275.0					11																	68549244		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68549244G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1347C>T	11.37:g.68549244G>A						CPT1A_ENST00000376618.2_Silent_p.Y449Y|CPT1A_ENST00000540367.1_Silent_p.Y449Y|CPT1A_ENST00000539743.1_Silent_p.Y449Y	p.Y449Y	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		11	1501	-	Esophageal squamous(3;3.28e-14)		449					Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.1347C>T	CCDS8185.1																																																																																				0.473	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		25	551	0	0	0	1	0	25	551				
ST8SIA4	7903	broad.mit.edu	37	5	100222206	100222206	+	Missense_Mutation	SNP	C	C	T	rs376980451		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:100222206C>T	ENST00000231461.5	-	3	654	c.344G>A	c.(343-345)cGc>cAc	p.R115H	ST8SIA4_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Missense_Mutation_p.R115H	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	115					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TAGTGTCCGGCGCCTGTCAAG	0.433																																						ENST00000231461.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(343-345)cGc>cAc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	137.0	130.0	132.0		344,344	5.9	1.0	5		132	0,8600		0,0,4300	no	missense,missense	ST8SIA4	NM_175052.1,NM_005668.4	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	115/169,115/360	100222206	1,13005	2203	4300	6503	SO:0001583	missense	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100222206C>T	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.344G>A	5.37:g.100222206C>T	ENSP00000231461:p.Arg115His					ST8SIA4_ENST00000451528.2_Missense_Mutation_p.R115H|ST8SIA4_ENST00000507360.2_5'UTR	p.R115H	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	3	654	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	115					A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	c.344G>A	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538956	0.27475	2.27E-4	0.0	ENSG00000113532	ENST00000231461;ENST00000451528	T;T	0.31247	1.5;1.5	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.13200	0.0320	N	0.02916	-0.46	0.58432	D	0.999998	B	0.29115	0.233	B	0.20184	0.028	T	0.16541	-1.0399	10	0.02654	T	1	.	19.3049	0.94157	0.0:1.0:0.0:0.0	.	115	Q92187	SIA8D_HUMAN	H	115	ENSP00000231461:R115H;ENSP00000428914:R115H	ENSP00000231461:R115H	R	-	2	0	ST8SIA4	100250105	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	3.665000	0.54532	2.809000	0.96659	0.557000	0.71058	CGC		0.433	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		10	358	0	0	0	1	0	10	358				
ZNF675	171392	broad.mit.edu	37	19	23836724	23836724	+	Silent	SNP	T	T	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:23836724T>C	ENST00000359788.4	-	4	1179	c.1011A>G	c.(1009-1011)gaA>gaG	p.E337E	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	337					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTAGGGTTTTTCTCCAGTAT	0.378																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1009-1011)gaA>gaG		zinc finger protein 675							47.0	50.0	49.0					19																	23836724		2203	4300	6503	SO:0001819	synonymous_variant	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836724T>C		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1011A>G	19.37:g.23836724T>C						ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	p.E337E	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	1179	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	337					Q8N211	Silent	SNP	ENST00000359788.4	37	c.1011A>G	CCDS32981.1																																																																																				0.378	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		6	244	0	0	0	1	0	6	244				
TLN2	83660	broad.mit.edu	37	15	63054530	63054530	+	Silent	SNP	G	G	A	rs138708550		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:63054530G>A	ENST00000561311.1	+	38	5069	c.4839G>A	c.(4837-4839)tcG>tcA	p.S1613S	TLN2_ENST00000472902.1_Silent_p.S6S|TLN2_ENST00000306829.6_Silent_p.S1613S			Q9Y4G6	TLN2_HUMAN	talin 2	1613					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAGTTCATCGTACCTCATTC	0.542																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(4837-4839)tcG>tcA		talin 2		G		1,4405	2.1+/-5.4	0,1,2202	255.0	217.0	230.0		4839	-3.7	1.0	15	dbSNP_134	230	0,8600		0,0,4300	no	coding-synonymous	TLN2	NM_015059.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1613/2543	63054530	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63054530G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4839G>A	15.37:g.63054530G>A						TLN2_ENST00000306829.6_Silent_p.S1613S|TLN2_ENST00000472902.1_Silent_p.S6S	p.S1613S			Q9Y4G6	TLN2_HUMAN			38	5069	+			1613					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.4839G>A	CCDS32261.1																																																																																				0.542	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			23	605	0	0	0	1	0	23	605				
LSAMP	4045	broad.mit.edu	37	3	115560805	115560805	+	Missense_Mutation	SNP	G	G	A	rs117984283		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:115560805G>A	ENST00000490035.2	-	6	1305	c.806C>T	c.(805-807)aCg>aTg	p.T269M	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.T266M	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	269	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTGGCCCTCCGTGCTCTTAAT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		18695	0.001		0.0	False		,,,				2504	0.0					ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(805-807)aCg>aTg		limbic system-associated membrane protein		G	MET/THR	0,4406		0,0,2203	104.0	91.0	95.0		806	4.9	1.0	3	dbSNP_132	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	LSAMP	NM_002338.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	269/339	115560805	1,13005	2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115560805G>A	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.806C>T	3.37:g.115560805G>A	ENSP00000419000:p.Thr269Met					LSAMP_ENST00000539563.1_Missense_Mutation_p.T266M|LSAMP_ENST00000498645.1_5'UTR	p.T269M	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	6	1305	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	269			Ig-like C2-type 3.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.806C>T	CCDS2982.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.98	2.991249	0.54041	0.0	1.16E-4	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.68624	-0.34;-0.34;-0.34	5.87	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.335564	0.33854	N	0.004494	T	0.69744	0.3145	L	0.46614	1.455	0.39182	D	0.96279	D;D	0.65815	0.995;0.995	P;P	0.55545	0.666;0.778	T	0.68269	-0.5453	10	0.33141	T	0.24	-5.6108	13.4795	0.61328	0.1018:0.0:0.8982:0.0	.	269;269	B2RCU8;Q13449	.;LSAMP_HUMAN	M	253;269;266	ENSP00000328455:T253M;ENSP00000419000:T269M;ENSP00000443429:T266M	ENSP00000328455:T253M	T	-	2	0	LSAMP	117043495	0.996000	0.38824	0.998000	0.56505	0.996000	0.88848	2.307000	0.43682	2.785000	0.95823	0.655000	0.94253	ACG		0.483	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		5	218	0	0	0	1	0	5	218				
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:12155757C>A	ENST00000547628.1	-	4	596	c.459G>T	c.(457-459)agG>agT	p.R153S	ZNF878_ENST00000602107.1_Missense_Mutation_p.R200S|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAACCTGAATGCTT	0.423																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(598-600)agG>agT		zinc finger protein 878							139.0	150.0	146.0					19																	12155757		2165	4283	6448	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155757C>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.459G>T	19.37:g.12155757C>A	ENSP00000447931:p.Arg153Ser					CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA	p.R200S			C9JN71	ZN878_HUMAN			5	599	-			153						Missense_Mutation	SNP	ENST00000547628.1	37	c.600G>T	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	c	0.119	-1.128634	0.01756	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.13901	2.55	1.25	-2.51	0.06365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.11427	0.14	0.09310	N	1	B	0.15141	0.012	B	0.18871	0.023	T	0.39840	-0.9594	9	0.02654	T	1	.	3.7988	0.08750	0.3827:0.4258:0.0:0.1915	.	153	C9JN71	ZN878_HUMAN	S	153;200	ENSP00000447931:R153S	ENSP00000447931:R153S	R	-	3	2	AC022415.4;ZNF878	12016757	0.000000	0.05858	0.001000	0.08648	0.669000	0.39330	-2.636000	0.00867	-1.408000	0.02040	0.299000	0.19835	AGG		0.423	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		6	513	1	0	2.0095e-06	1	2.17391e-06	6	513				
SESN2	83667	broad.mit.edu	37	1	28595710	28595710	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:28595710G>A	ENST00000253063.3	+	2	428	c.107G>A	c.(106-108)cGg>cAg	p.R36Q		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	36					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGAGAGCCGGGCTCGGCGA	0.557																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(106-108)cGg>cAg		sestrin 2							60.0	65.0	63.0					1																	28595710		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28595710G>A	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.107G>A	1.37:g.28595710G>A	ENSP00000253063:p.Arg36Gln						p.R36Q	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	2	428	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	36					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.107G>A	CCDS321.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436114	0.25813	.	.	ENSG00000130766	ENST00000253063	T	0.17054	2.3	5.38	2.31	0.28768	.	0.689341	0.14538	N	0.313426	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39418	-0.9615	10	0.08599	T	0.76	-16.7583	1.6538	0.02777	0.2294:0.3653:0.2696:0.1357	.	36	P58004	SESN2_HUMAN	Q	36	ENSP00000253063:R36Q	ENSP00000253063:R36Q	R	+	2	0	SESN2	28468297	0.000000	0.05858	0.629000	0.29254	0.872000	0.50106	0.514000	0.22786	0.616000	0.30141	0.655000	0.94253	CGG		0.557	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			10	292	0	0	0	1	0	10	292				
DNAH11	8701	broad.mit.edu	37	7	21631113	21631113	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:21631113C>T	ENST00000409508.3	+	14	2616	c.2585C>T	c.(2584-2586)aCc>aTc	p.T862I	DNAH11_ENST00000328843.6_Missense_Mutation_p.T862I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	862	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCAGCCTTCACCTTGGAGGAC	0.502									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(2584-2586)aCc>aTc		dynein, axonemal, heavy chain 11							41.0	44.0	43.0					7																	21631113		2008	4151	6159	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21631113C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2585C>T	7.37:g.21631113C>T	ENSP00000475939:p.Thr862Ile					DNAH11_ENST00000409508.3_Missense_Mutation_p.T862I	p.T862I			Q96DT5	DYH11_HUMAN			14	2616	+			862			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2585C>T		.	.	.	.	.	.	.	.	.	.	C	1.792	-0.479214	0.04383	.	.	ENSG00000105877	ENST00000328843	T	0.23754	1.89	5.63	-1.61	0.08399	.	1.431370	0.03866	N	0.274805	T	0.13243	0.0321	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20306	-1.0279	9	0.30854	T	0.27	.	0.9212	0.01315	0.1893:0.2843:0.2844:0.242	.	862	Q96DT5	DYH11_HUMAN	I	862	ENSP00000330671:T862I	ENSP00000330671:T862I	T	+	2	0	DNAH11	21597638	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.302000	0.08221	-0.000000	0.14550	0.561000	0.74099	ACC		0.502	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		9	181	0	0	0	1	0	9	181				
FGL2	10875	broad.mit.edu	37	7	76825927	76825927	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:76825927A>T	ENST00000248598.5	-	2	1021	c.989T>A	c.(988-990)tTa>tAa	p.L330*	CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	330	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ACCAACGTGTAAACGATATTT	0.358																																						ENST00000248598.5																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						c.(988-990)tTa>tAa		fibrinogen-like 2							168.0	158.0	161.0					7																	76825927		2203	4300	6503	SO:0001587	stop_gained	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76825927A>T	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.989T>A	7.37:g.76825927A>T	ENSP00000248598:p.Leu330*					CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron	p.L330*	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN			2	1021	-			330			Fibrinogen C-terminal.			Nonsense_Mutation	SNP	ENST00000248598.5	37	c.989T>A	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.431927	0.62844	.	.	ENSG00000127951	ENST00000248598	.	.	.	6.03	6.03	0.97812	.	0.131312	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2196	0.82251	1.0:0.0:0.0:0.0	.	.	.	.	X	330	.	ENSP00000248598:L330X	L	-	2	0	FGL2	76663863	0.982000	0.34865	0.023000	0.16930	0.381000	0.30169	8.962000	0.93254	2.308000	0.77769	0.533000	0.62120	TTA		0.358	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		13	417	0	0	0	1	0	13	417				
SETD1A	9739	broad.mit.edu	37	16	30978877	30978877	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:30978877G>A	ENST00000262519.8	+	10	3424	c.2738G>A	c.(2737-2739)cGt>cAt	p.R913H		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	913	Glu-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						AAGAGGCCTCGTCCCTCCACT	0.557																																						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.(2737-2739)cGt>cAt		SET domain containing 1A							73.0	64.0	67.0					16																	30978877		2197	4300	6497	SO:0001583	missense	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.chr16:30978877G>A	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.2738G>A	16.37:g.30978877G>A	ENSP00000262519:p.Arg913His						p.R913H	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			10	3424	+			913			Glu-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.2738G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218472	0.79464	.	.	ENSG00000099381	ENST00000262519	T	0.57752	0.38	5.49	5.49	0.81192	.	0.142143	0.45867	D	0.000336	T	0.72187	0.3429	M	0.68593	2.085	0.52501	D	0.999954	D	0.89917	1.0	D	0.85130	0.997	T	0.73575	-0.3939	10	0.87932	D	0	.	18.3124	0.90204	0.0:0.0:1.0:0.0	.	913	O15047	SET1A_HUMAN	H	913	ENSP00000262519:R913H	ENSP00000262519:R913H	R	+	2	0	SETD1A	30886378	1.000000	0.71417	0.931000	0.37212	0.976000	0.68499	8.812000	0.91959	2.857000	0.98124	0.650000	0.86243	CGT		0.557	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		23	454	0	0	0	1	0	23	454				
PLEKHH2	130271	broad.mit.edu	37	2	43939401	43939401	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:43939401A>G	ENST00000282406.4	+	15	2449	c.2339A>G	c.(2338-2340)gAt>gGt	p.D780G		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	780	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGACTGCAGATTCTCCCAAT	0.418																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2338-2340)gAt>gGt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							155.0	144.0	148.0					2																	43939401		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43939401A>G	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2339A>G	2.37:g.43939401A>G	ENSP00000282406:p.Asp780Gly						p.D780G	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			15	2449	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	780			PH 1.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2339A>G	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.482238	0.84747	.	.	ENSG00000152527	ENST00000282406	T	0.14144	2.53	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	M	0.87097	2.86	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.81914	0.953;0.995	T	0.51896	-0.8647	10	0.87932	D	0	-24.0949	14.981	0.71311	1.0:0.0:0.0:0.0	.	780;217	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	G	780	ENSP00000282406:D780G	ENSP00000282406:D780G	D	+	2	0	PLEKHH2	43792905	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.890000	0.92477	1.935000	0.56089	0.377000	0.23210	GAT		0.418	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		12	343	0	0	0	1	0	12	343				
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						ENST00000221347.6																			1	Substitution - Missense(1)	p.A2493V(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7477-7479)gCc>gTc		Fc fragment of IgG binding protein							214.0	180.0	192.0					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val						p.A2493V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7485	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	846	0	0	0	1	0	6	846				
TMEM132D	121256	broad.mit.edu	37	12	130185196	130185196	+	Silent	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:130185196G>A	ENST00000422113.2	-	2	453	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	43					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TAGGTGGGCAGCAAGGAAAAC	0.557																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(127-129)Ctg>Ttg		transmembrane protein 132D							117.0	80.0	93.0					12																	130185196		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130185196G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.127C>T	12.37:g.130185196G>A							p.L43L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	453	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	43					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.127C>T	CCDS9266.1																																																																																				0.557	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		10	185	0	0	0	1	0	10	185				
FAM86C1	55199	broad.mit.edu	37	11	71507261	71507261	+	Intron	SNP	A	A	G	rs111708284	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:71507261A>G	ENST00000359244.4	+	4	434				FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1											lung(1)	1						AGCTGTCCCTACAGGACTCCA	0.627													.|||	1255	0.250599	0.4395	0.1816	5008	,	,		19360	0.1895		0.2167	False		,,,				2504	0.1421					ENST00000528685.1																			0				lung(1)	1						c.(358-360)Aca>Gca		family with sequence similarity 86, member C1		G	,,	1465,2935		182,1101,917	56.0	66.0	62.0		,,	-2.4	0.0	11	dbSNP_132	62	1133,7453		27,1079,3187	no	intron,intron,intron	FAM86C1	NM_001099653.1,NM_018172.2,NM_152563.2	,,	209,2180,4104	GG,GA,AA		13.1959,33.2955,20.0062	,,	,,	71507261	2598,10388	2200	4293	6493	SO:0001627	intron_variant	55199							g.chr11:71507261A>G	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.411+49A>G	11.37:g.71507261A>G						FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000359244.4_Intron	p.T120A			Q9NVL1	FA86C_HUMAN			3	358	+			0					Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	c.358A>G	CCDS41686.1	364	0.16666666666666666	154	0.3130081300813008	49	0.13535911602209943	72	0.1258741258741259	89	0.11741424802110818	.	5.025	0.190229	0.09547	0.332955	0.131959	ENSG00000158483	ENST00000528685	T	0.18502	2.21	1.18	-2.36	0.06663	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.43782	-0.9370	4	.	.	.	.	3.1938	0.06626	0.5083:0.0:0.3019:0.1898	.	.	.	.	A	120	ENSP00000436598:T120A	.	T	+	1	0	FAM86C1	71184909	.	.	0.000000	0.03702	0.012000	0.07955	.	.	-2.374000	0.00599	-1.160000	0.01791	ACA		0.627	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		7	394	0	0	0	1	0	7	394				
AQP12A	375318	broad.mit.edu	37	2	241631584	241631584	+	Missense_Mutation	SNP	G	G	T	rs199880904		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:241631584G>T	ENST00000337801.4	+	2	286	c.217G>T	c.(217-219)Gtc>Ttc	p.V73F	AQP12A_ENST00000429564.1_Missense_Mutation_p.V85F|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	73						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCGCACGGGGTCACCTTGGA	0.667																																						ENST00000429564.1																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14						c.(253-255)Gtc>Ttc		aquaporin 12A							30.0	45.0	40.0					2																	241631584		2151	4265	6416	SO:0001583	missense	375318					integral to membrane	transporter activity	g.chr2:241631584G>T	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.217G>T	2.37:g.241631584G>T	ENSP00000337144:p.Val73Phe					AQP12A_ENST00000337801.4_Missense_Mutation_p.V73F	p.V85F			Q8IXF9	AQ12A_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	2	316	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	73						Missense_Mutation	SNP	ENST00000337801.4	37	c.253G>T		.	.	.	.	.	.	.	.	.	.	.	1.073	-0.669235	0.03403	.	.	ENSG00000184945	ENST00000337801;ENST00000429564;ENST00000420599	T;T	0.11277	2.79;2.79	2.58	2.58	0.30949	Aquaporin-like (2);	0.350897	0.29198	N	0.012848	T	0.03434	0.0099	N	0.02916	-0.46	0.09310	N	0.999998	B	0.11235	0.004	B	0.12837	0.008	T	0.45600	-0.9250	10	0.09843	T	0.71	.	6.7793	0.23636	0.0:0.0:0.7211:0.2789	.	73	Q8IXF9	AQ12A_HUMAN	F	73;85;58	ENSP00000337144:V73F;ENSP00000405899:V85F	ENSP00000337144:V73F	V	+	1	0	AQP12A	241280257	0.003000	0.15002	0.643000	0.29450	0.067000	0.16453	1.019000	0.30014	1.474000	0.48178	0.186000	0.17326	GTC		0.667	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		5	237	1	0	2.4624e-09	1	2.7132e-09	5	237				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	136	0	0	0	1	0	4	136				
HEATR3	55027	broad.mit.edu	37	16	50128699	50128699	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:50128699T>C	ENST00000299192.7	+	12	1785	c.1594T>C	c.(1594-1596)Tcc>Ccc	p.S532P	HEATR3_ENST00000285767.4_Missense_Mutation_p.S446P|HEATR3_ENST00000564942.1_3'UTR	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	532										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CAAGAACATTTCCCAGGTAAG	0.308																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1594-1596)Tcc>Ccc		HEAT repeat containing 3							86.0	91.0	89.0					16																	50128699		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50128699T>C	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1594T>C	16.37:g.50128699T>C	ENSP00000299192:p.Ser532Pro					HEATR3_ENST00000564942.1_3'UTR|HEATR3_ENST00000285767.4_Missense_Mutation_p.S446P	p.S532P	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			12	1785	+			532					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.1594T>C	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.633940	0.29068	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.64260	-0.09;-0.09	5.92	3.27	0.37495	Armadillo-type fold (1);	0.267227	0.44902	N	0.000418	T	0.40196	0.1107	N	0.12746	0.255	0.32459	N	0.544366	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.0	T	0.36601	-0.9741	10	0.30854	T	0.27	.	9.138	0.36886	0.0:0.3849:0.0:0.6151	.	446;532	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	P	446;532	ENSP00000285767:S446P;ENSP00000299192:S532P	ENSP00000285767:S446P	S	+	1	0	HEATR3	48686200	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	0.500000	0.22562	0.324000	0.23333	0.533000	0.62120	TCC		0.308	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		14	457	0	0	0	1	0	14	457				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	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	117	0	0	0	1	0	5	117				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	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.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		13	81	0	0	0	1	0	13	81				
ALDH4A1	8659	broad.mit.edu	37	1	19200968	19200969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:19200968_19200969insC	ENST00000375341.3	-	14	1824_1825	c.1567_1568insG	c.(1567-1569)gccfs	p.A523fs	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538839.1_Frame_Shift_Ins_p.A472fs|ALDH4A1_ENST00000538309.1_Frame_Shift_Ins_p.A463fs|ALDH4A1_ENST00000290597.5_Frame_Shift_Ins_p.A523fs	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	523					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGCTCGGGCCCCCCCAAAG	0.599																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(1567-1569)ccgfs		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)																																			SO:0001589	frameshift_variant	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19200968_19200969insC	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1568dupG	1.37:g.19200975_19200975dupC	ENSP00000364490:p.Ala523fs					ALDH4A1_ENST00000290597.5_Frame_Shift_Ins_p.P523fs|ALDH4A1_ENST00000538839.1_Frame_Shift_Ins_p.P472fs|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Frame_Shift_Ins_p.P463fs	p.P523fs	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	14	1824_1825	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	523					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Frame_Shift_Ins	INS	ENST00000375341.3	37	c.1567_1568insG	CCDS188.1																																																																																				0.599	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			7	385						7	385	---	---	---	---
MAP3K6	9064	broad.mit.edu	37	1	27688114	27688115	+	Frame_Shift_Ins	INS	-	-	GC	rs142955447		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:27688114_27688115insGC	ENST00000493901.1	-	12	1821_1822	c.1582_1583insGC	c.(1582-1584)ctgfs	p.L528fs	MAP3K6_ENST00000357582.2_Frame_Shift_Ins_p.L528fs|MAP3K6_ENST00000374040.3_Frame_Shift_Ins_p.L520fs	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	528					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTCCAGGACCAGCACCTGCAGG	0.629																																						ENST00000374040.3																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(1558-1560)ggtfs		mitogen-activated protein kinase kinase kinase 6																																				SO:0001589	frameshift_variant	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27688114_27688115insGC	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.1581_1582dupGC	1.37:g.27688115_27688116dupGC	ENSP00000419591:p.Leu528fs					MAP3K6_ENST00000357582.2_Frame_Shift_Ins_p.G528fs|MAP3K6_ENST00000493901.1_Frame_Shift_Ins_p.G528fs	p.G520fs			O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	10	1818_1819	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	528					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Frame_Shift_Ins	INS	ENST00000493901.1	37	c.1558_1559insGC	CCDS299.1																																																																																				0.629	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		15	244						15	244	---	---	---	---
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	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_ENST00000356545.2_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000373059.1_In_Frame_Del_p.223_224QQ>Q|RSPO1_ENST00000401071.2_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000401070.1_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_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401068.1_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	638						7	638	---	---	---	---
SRSF11	9295	broad.mit.edu	37	1	70687376	70687377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:70687376_70687377insG	ENST00000370950.3	+	2	139_140	c.57_58insG	c.(58-60)ggtfs	p.G20fs	SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.G20fs|SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.G20fs|SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.G20fs|RP4-677H15.4_ENST00000422107.1_RNA|SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.G20fs			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	20	Poly-Gly.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P19P(1)		large_intestine(3)|ovary(2)|skin(1)	6						GCGGCGGGCCcggtggcggagg	0.649																																						ENST00000370950.3																			1	Substitution - coding silent(1)	p.P19P(1)	lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(55-60)ccgtggfs		serine/arginine-rich splicing factor 11																																				SO:0001589	frameshift_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70687376_70687377insG	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.59dupG	1.37:g.70687378_70687378dupG	ENSP00000359988:p.Gly20fs					SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.W20fs	p.W20fs			Q05519	SRS11_HUMAN			2	139_140	+			20			Poly-Gly.		Q5T758|Q8IWE6	Frame_Shift_Ins	INS	ENST00000370950.3	37	c.57_58insG	CCDS647.1																																																																																				0.649	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		8	462						8	462	---	---	---	---
ODF2L	57489	broad.mit.edu	37	1	86826141	86826142	+	Frame_Shift_Ins	INS	-	-	T	rs372782838		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:86826141_86826142insT	ENST00000359242.3	-	12	1502_1503	c.1221_1222insA	c.(1219-1224)aaacagfs	p.Q408fs	ODF2L_ENST00000370566.3_Frame_Shift_Ins_p.Q379fs|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.Q248fs|ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.Q379fs|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.Q408fs|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.Q379fs	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	408						centrosome (GO:0005813)		p.K378fs*22(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		AGGGTTTTCTGTTTTTTTTCTA	0.287																																						ENST00000359242.3																			2	Deletion - Frameshift(2)	p.K378fs*22(2)	lung(2)	endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24						c.(1219-1224)aaagaafs		outer dense fiber of sperm tails 2-like			,,,	3,4259		0,3,2128					,,,	5.9	1.0			91	5,8229		0,5,4112	no	frameshift,frameshift,frameshift,frameshift	ODF2L	NM_020729.2,NM_001184766.1,NM_001184765.1,NM_001007022.2	,,,	0,8,6240	A1A1,A1R,RR		0.0607,0.0704,0.064	,,,	,,,		8,12488				SO:0001589	frameshift_variant	57489					centrosome		g.chr1:86826141_86826142insT		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1222dupA	1.37:g.86826149_86826149dupT	ENSP00000359600:p.Gln408fs					ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.E408fs|ODF2L_ENST00000370566.3_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.E248fs	p.E408fs	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	12	1502_1503	-			408					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Frame_Shift_Ins	INS	ENST00000359242.3	37	c.1221_1222insA	CCDS41354.2																																																																																				0.287	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			7	278						7	278	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152127917	152127920	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:152127917_152127920delTGTC	ENST00000316073.3	-	3	1719_1722	c.1655_1658delGACA	c.(1654-1659)agacaafs	p.RQ552fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	552	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.505																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1654-1659)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127917_152127920delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1655_1658delGACA	1.37:g.152127925_152127928delTGTC	ENSP00000317895:p.Arg552fs						p.RQ552fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1719_1722	-			552			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1655_1658delGACA	CCDS41397.1																																																																																				0.505	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	2844						7	2844	---	---	---	---
GPATCH4	54865	broad.mit.edu	37	1	156565504	156565504	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:156565504delT	ENST00000438976.2	-	8	659	c.629delA	c.(628-630)aagfs	p.K213fs	GPATCH4_ENST00000368232.4_Frame_Shift_Del_p.K208fs|GPATCH4_ENST00000497287.1_5'UTR			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	208							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTCTTTTTCTTTTTTTTGGG	0.537																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17						c.(613-615)agfs		G patch domain containing 4							90.0	89.0	90.0					1																	156565504		2203	4300	6503	SO:0001589	frameshift_variant	54865					intracellular	nucleic acid binding	g.chr1:156565504delT	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.629delA	1.37:g.156565504delT	ENSP00000396441:p.Lys213fs					GPATCH4_ENST00000438976.2_Frame_Shift_Del_p.K213fs|GPATCH4_ENST00000497287.1_5'UTR	p.K208fs	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN			8	746	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		208					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Frame_Shift_Del	DEL	ENST00000438976.2	37	c.614delA	CCDS44245.1																																																																																				0.537	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		8	371						8	371	---	---	---	---
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458648	90458648	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:90458648delT	ENST00000603238.1	+	2	324	c.324delT	c.(322-324)tgtfs	p.C108fs																								CTTATTACTGTCAACAGAGTG	0.512																																						ENST00000603238.1																			0											c.(322-324)tgfs																																						SO:0001589	frameshift_variant	0							g.chr2:90458648delT																												ENST00000603238.1:c.324delT	2.37:g.90458648delT	ENSP00000474044:p.Cys108fs						p.108fs							2	324	+									Frame_Shift_Del	DEL	ENST00000603238.1	37	c.324delT																																																																																					0.512	CH17-132F21.1-001	PUTATIVE	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468882.1			9	2796						9	2796	---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165551295	165551296	+	Frame_Shift_Ins	INS	-	-	A	rs374805044		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:165551295_165551296insA	ENST00000392717.2	-	13	2838_2839	c.2834_2835insT	c.(2833-2835)ttgfs	p.L945fs	COBLL1_ENST00000194871.6_Frame_Shift_Ins_p.L974fs|COBLL1_ENST00000375458.2_Frame_Shift_Ins_p.L869fs|COBLL1_ENST00000342193.4_Frame_Shift_Ins_p.L907fs|COBLL1_ENST00000409184.3_Frame_Shift_Ins_p.L907fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	945						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCTGCATCTGCAAAAAAAAAGA	0.421																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2605-2607)tcafs		cordon-bleu WH2 repeat protein-like 1																																				SO:0001589	frameshift_variant	22837							g.chr2:165551295_165551296insA	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2835dupT	2.37:g.165551304_165551304dupA	ENSP00000376478:p.Leu945fs					COBLL1_ENST00000342193.4_Frame_Shift_Ins_p.S907fs|COBLL1_ENST00000194871.6_Frame_Shift_Ins_p.S974fs|COBLL1_ENST00000392717.2_Frame_Shift_Ins_p.S945fs|COBLL1_ENST00000409184.3_Frame_Shift_Ins_p.S907fs	p.S869fs	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2827_2828	-			945					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Ins	INS	ENST00000392717.2	37	c.2606_2607insT																																																																																					0.421	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		9	179						9	179	---	---	---	---
SLC11A1	6556	broad.mit.edu	37	2	219252307	219252307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:219252307delT	ENST00000233202.6	+	7	931	c.591delT	c.(589-591)gctfs	p.A197fs	SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	197					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAAGCTTTTTTTGGAC	0.448																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(589-591)gcfs		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							305.0	318.0	314.0					2																	219252307		2203	4300	6503	SO:0001589	frameshift_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219252307delT	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.591delT	2.37:g.219252307delT	ENSP00000233202:p.Ala197fs					SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	p.A197fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	931	+		Renal(207;0.0474)	197					C0H5Y3	Frame_Shift_Del	DEL	ENST00000233202.6	37	c.591delT	CCDS2415.1																																																																																				0.448	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		7	1511						7	1511	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	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	858						8	858	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1003-1005)ggfs		mediator complex subunit 12-like							83.0	94.0	90.0					3																	150877786		2203	4300	6503	SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877786delC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1005delC	3.37:g.150877786delC	ENSP00000417235:p.Gly335fs					MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron	p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	ENST00000474524.1	37	c.1005delC	CCDS33876.1																																																																																				0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	608						7	608	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400814	195400815	+	lincRNA	INS	-	-	TT	rs371598334		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:195400814_195400815insTT	ENST00000445430.1	+	0	1410_1411									long intergenic non-protein coding RNA 969																		ACCTGGTTGTCTGGTCAGGCAT	0.574																																						ENST00000445430.1																			0																																																			0							g.chr3:195400814_195400815insTT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400814_195400815insTT														0	1410_1411	+									RNA	INS	ENST00000445430.1	37																																																																																						0.574	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			8	167						8	167	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389361	1389362	+	Frame_Shift_Del	DEL	CA	CA	-	rs571164794	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr4:1389361_1389362delCA	ENST00000324803.4	+	1	4022_4023	c.1062_1063delCA	c.(1060-1065)ctcacafs	p.T355fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	355					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)			CCCGCCTGCTCACACGTGCCCA	0.653														3	0.000599042	0.0015	0.0	5008	,	,		19095	0.0		0.001	False		,,,				2504	0.0					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.(1060-1065)ctcafs		cysteine-rich PAK1 inhibitor				8,4244		0,8,2118						-1.1	0.0			160	7,8229		0,7,4111	no	frameshift	CRIPAK	NM_175918.3		0,15,6229	A1A1,A1R,RR		0.085,0.1881,0.1201				15,12473				SO:0001589	frameshift_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.chr4:1389361_1389362delCA	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.1062_1063delCA	4.37:g.1389363_1389364delCA	ENSP00000323978:p.Thr355fs						p.LT354fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4022_4023	+			354					Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.1062_1063delCA	CCDS3349.1																																																																																				0.653	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		7	1646						7	1646	---	---	---	---
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-	rs376676164		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr4:15995680delT	ENST00000510224.1	-	16	1945	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000505450.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs			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_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_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		9	328						9	328	---	---	---	---
HERC5	51191	broad.mit.edu	37	4	89381265	89381266	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr4:89381265_89381266insA	ENST00000264350.3	+	3	562_563	c.409_410insA	c.(409-411)gaafs	p.E137fs	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	137					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CATTTTACAAGAAAAAAAAATA	0.272																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(409-411)aaafs		HECT and RLD domain containing E3 ubiquitin protein ligase 5																																				SO:0001589	frameshift_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89381265_89381266insA	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.418dupA	4.37:g.89381274_89381274dupA	ENSP00000264350:p.Glu137fs					HERC5_ENST00000508695.1_3'UTR	p.K137fs	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	3	562_563	+		Hepatocellular(203;0.114)	137					B2RTQ1|Q69G20	Frame_Shift_Ins	INS	ENST00000264350.3	37	c.409_410insA	CCDS3630.1																																																																																				0.272	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		7	174						7	174	---	---	---	---
RRH	10692	broad.mit.edu	37	4	110756541	110756541	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr4:110756541delT	ENST00000317735.4	+	3	351	c.317delT	c.(316-318)attfs	p.I106fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	106					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GGATTGAATATTTTTTTTGGA	0.393																																						ENST00000317735.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12						c.(316-318)atfs		retinal pigment epithelium-derived rhodopsin homolog				67,4199		33,1,2099	139.0	134.0	136.0			5.7	1.0	4		136	92,8162		44,4,4079	no	frameshift	RRH	NM_006583.2		77,5,6178	A1A1,A1R,RR		1.1146,1.5706,1.27			110756541	159,12361	2203	4300	6503	SO:0001589	frameshift_variant	10692				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr4:110756541delT	AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.317delT	4.37:g.110756541delT	ENSP00000314992:p.Ile106fs						p.I106fs	NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	3	351	+		Hepatocellular(203;0.217)	106					A1A4V2|Q7RTS4	Frame_Shift_Del	DEL	ENST00000317735.4	37	c.317delT	CCDS3687.1																																																																																				0.393	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583		7	339						7	339	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-	rs150581210		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.340	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		9	392						9	392	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13919383	13919383	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:13919383delT	ENST00000265104.4	-	7	981	c.877delA	c.(877-879)agafs	p.R293fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGGAGAGTCTTTTTTTCCAG	0.517									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(877-879)gafs		dynein, axonemal, heavy chain 5							145.0	157.0	153.0					5																	13919383		2203	4300	6503	SO:0001589	frameshift_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13919383delT	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.877delA	5.37:g.13919383delT	ENSP00000265104:p.Arg293fs						p.R293fs	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			7	981	-	Lung NSC(4;0.00476)		293			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	ENST00000265104.4	37	c.877delA	CCDS3882.1																																																																																				0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	931						8	931	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	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_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR	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	613						7	613	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctctgc>ctc	p.C143del				Q99750	MDFI_HUMAN	MyoD family inhibitor	204					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(412-417)ctc>ct		MyoD family inhibitor																																				SO:0001651	inframe_deletion	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621169_41621171delCTG	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.414_416delCTG	6.37:g.41621178_41621180delCTG	ENSP00000362141:p.Cys143del						p.LC138del			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	601_603	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		199						In_Frame_Del	DEL	ENST00000373050.4	37	c.414_416delCTG																																																																																					0.655	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		7	412						7	412	---	---	---	---
GLTSCR1L	23506	broad.mit.edu	37	6	42789764	42789766	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:42789764_42789766delGAT	ENST00000314073.5	+	3	180_182	c.4_6delGAT	c.(4-6)gatdel	p.D6del	GLTSCR1L_ENST00000394168.1_In_Frame_Del_p.D6del			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	6																	AGTTGTCATGGATGATGATGATG	0.369																																						ENST00000314073.5																			0											c.(4-6)del		GLTSCR1-like																																				SO:0001651	inframe_deletion	23506							g.chr6:42789764_42789766delGAT	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.4_6delGAT	6.37:g.42789773_42789775delGAT	ENSP00000313933:p.Asp6del					GLTSCR1L_ENST00000394168.1_In_Frame_Del_p.D6del	p.D6del							3	180_182	+								A1L3W2|Q5TFZ3|Q92514	In_Frame_Del	DEL	ENST00000314073.5	37	c.4_6delGAT	CCDS34451.1																																																																																				0.369	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		8	425						8	425	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)aggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1570-1572)ggfs		zinc finger protein 318							215.0	222.0	219.0					6																	43323502		2203	4300	6503	SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323502delT	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1570delA	6.37:g.43323502delT	ENSP00000354964:p.Arg526fs					ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1647	-			526					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.1570delA	CCDS4895.2																																																																																				0.493	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		14	1686						14	1686	---	---	---	---
MED23	9439	broad.mit.edu	37	6	131919846	131919846	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:131919846delT	ENST00000368068.3	-	19	2455	c.2276delA	c.(2275-2277)aatfs	p.N759fs	MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000403834.3_Frame_Shift_Del_p.N765fs|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	759					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.N759fs*7(1)|p.N765fs*7(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTCCTCCACATTTTTTTTCAG	0.378																																						ENST00000403834.3																			2	Insertion - Frameshift(2)	p.N759fs*7(1)|p.N765fs*7(1)	large_intestine(2)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2293-2295)atfs		mediator complex subunit 23							154.0	151.0	152.0					6																	131919846		2203	4300	6503	SO:0001589	frameshift_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131919846delT	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2276delA	6.37:g.131919846delT	ENSP00000357047:p.Asn759fs					MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368068.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs	p.N765fs			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	19	2467	-	Breast(56;0.0753)		759					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Frame_Shift_Del	DEL	ENST00000368068.3	37	c.2294delA	CCDS5147.1																																																																																				0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			7	406						7	406	---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135784284	135784284	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:135784284delT	ENST00000367800.4	-	6	1126	c.910delA	c.(910-912)acafs	p.T304fs	AHI1_ENST00000457866.2_Frame_Shift_Del_p.T304fs|AHI1_ENST00000327035.6_Frame_Shift_Del_p.T304fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	304	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTCTTTTTTGTTTTTTTTGGT	0.308																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(910-912)cafs		Abelson helper integration site 1							79.0	70.0	73.0					6																	135784284		1828	4083	5911	SO:0001589	frameshift_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135784284delT	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.910delA	6.37:g.135784284delT	ENSP00000356774:p.Thr304fs					AHI1_ENST00000457866.2_Frame_Shift_Del_p.T304fs|AHI1_ENST00000327035.6_Frame_Shift_Del_p.T304fs	p.T304fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	6	1126	-	Breast(56;0.239)|Colorectal(23;0.24)		304					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Frame_Shift_Del	DEL	ENST00000367800.4	37	c.910delA	CCDS47483.1																																																																																				0.308	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		7	206						7	206	---	---	---	---
PPP1R17	10842	broad.mit.edu	37	7	31735179	31735179	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:31735179delA	ENST00000342032.3	+	3	807	c.179delA	c.(178-180)caafs	p.Q60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	60					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										GAGTCAGACCAAAAAAAACCA	0.438																																						ENST00000342032.3																			0											c.(178-180)cafs		protein phosphatase 1, regulatory subunit 17			,	4,0,4260		0,0,4,0,0,2128	142.0	138.0	140.0		,	3.6	0.8	7		141	1,3,8250		0,0,1,0,3,4123	no	codingComplex,intron	C7orf16	NM_006658.4,NM_001145123.2	,	0,0,5,0,3,6251	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,0.0938,0.0639	,	,	31735179	5,3,12510	2203	4300	6503	SO:0001589	frameshift_variant	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31735179delA	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.179delA	7.37:g.31735179delA	ENSP00000340125:p.Gln60fs					PPP1R17_ENST00000409146.3_Intron	p.Q60fs	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			3	807	+			60					B4DE58|Q9UDQ0	Frame_Shift_Del	DEL	ENST00000342032.3	37	c.179delA	CCDS5436.1																																																																																				0.438	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		8	609						8	609	---	---	---	---
DPY19L2P2	349152	broad.mit.edu	37	7	102883498	102883498	+	RNA	DEL	A	A	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:102883498delA	ENST00000312132.4	-	0	2616							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GTACCACTGTAAAAAAAAAAA	0.284																																						ENST00000312132.4																			0																																																			0							g.chr7:102883498delA	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102883498delA														0	2616	-								Q8N9V4|Q8ND62	RNA	DEL	ENST00000312132.4	37																																																																																						0.284	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		7	53						7	53	---	---	---	---
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-	rs571278001|rs145591109		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr9:139734633_139734635delAGA	ENST00000311502.7	+	14	2194_2196	c.1958_1960delAGA	c.(1957-1962)gagaag>gag	p.K660del	RABL6_ENST00000371675.3_In_Frame_Del_p.K545del|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.K661del|RABL6_ENST00000357466.2_Intron			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_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del	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		15	276						15	276	---	---	---	---
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:6867223_6867225delTTC	ENST00000299454.4	+	1	341_343	c.310_312delTTC	c.(310-312)ttcdel	p.F108del	OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	108					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517																																					Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21						c.(310-312)del		olfactory receptor, family 10, subfamily A, member 5																																				SO:0001651	inframe_deletion	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867223_6867225delTTC	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.310_312delTTC	11.37:g.6867232_6867234delTTC	ENSP00000299454:p.Phe108del					OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del	p.F108del			Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	341_343	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	108					O95223|Q52M66|Q96R21|Q96R22	In_Frame_Del	DEL	ENST00000299454.4	37	c.310_312delTTC	CCDS7773.1																																																																																				0.517	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		7	423						7	423	---	---	---	---
PSMA1	5682	broad.mit.edu	37	11	14529252	14529254	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:14529252_14529254delCAT	ENST00000396394.2	-	9	1079_1081	c.683_685delATG	c.(682-687)gatgtg>gtg	p.D228del	PSMA1_ENST00000530457.1_In_Frame_Del_p.D203del|PSMA1_ENST00000418988.2_In_Frame_Del_p.D234del|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000396393.1_In_Frame_Del_p.D228del|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000419365.2_3'UTR	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	228					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AATGGAGACACATCATCATCATC	0.36																																						ENST00000530457.1																			0				large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(607-612)gtg>g		proteasome (prosome, macropain) subunit, alpha type, 1																																				SO:0001651	inframe_deletion	5682				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	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14529252_14529254delCAT	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.683_685delATG	11.37:g.14529261_14529263delCAT	ENSP00000379676:p.Asp228del					PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000396394.2_In_Frame_Del_p.DV228del|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000418988.2_In_Frame_Del_p.DV234del|PSMA1_ENST00000396393.1_In_Frame_Del_p.DV228del	p.DV203del			P25786	PSA1_HUMAN			9	1138_1140	-			228					A8K400|Q53YE8|Q9BRV9	In_Frame_Del	DEL	ENST00000396394.2	37	c.608_610delATG	CCDS7816.1																																																																																				0.360	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		10	437						10	437	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19901475	19901477	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:19901475_19901477delAGC	ENST00000396087.3	+	5	671_673	c.572_574delAGC	c.(571-576)aagcag>aag	p.Q196del	NAV2_ENST00000349880.4_In_Frame_Del_p.Q196del|NAV2_ENST00000540292.1_In_Frame_Del_p.Q127del|NAV2_ENST00000527559.2_In_Frame_Del_p.Q125del|NAV2_ENST00000396085.1_In_Frame_Del_p.Q196del|NAV2_ENST00000360655.4_In_Frame_Del_p.Q132del|NAV2_ENST00000534229.1_3'UTR	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	196	Gln-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCGATACAagcagcagcagca	0.611																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(571-576)aag>a		neuron navigator 2			,,	52,4210		4,44,2083					,,	5.9	1.0			68	58,8184		2,54,4065	no	coding,coding,coding	NAV2	NM_182964.5,NM_145117.4,NM_001111018.1	,,	6,98,6148	A1A1,A1R,RR		0.7037,1.2201,0.8797	,,	,,		110,12394				SO:0001651	inframe_deletion	89797					nucleus	ATP binding|helicase activity	g.chr11:19901475_19901477delAGC	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.572_574delAGC	11.37:g.19901484_19901486delAGC	ENSP00000379396:p.Gln196del					NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del	p.KQ191del	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			5	933_935	+			191			CH.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	In_Frame_Del	DEL	ENST00000396087.3	37	c.572_574delAGC	CCDS58126.1																																																																																				0.611	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		7	407						7	407	---	---	---	---
HMGB1	3146	broad.mit.edu	37	13	31035498	31035500	+	In_Frame_Del	DEL	TCA	TCA	-	rs557859009	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr13:31035498_31035500delTCA	ENST00000405805.1	-	5	1582_1584	c.642_644delTGA	c.(640-645)gatgaa>gaa	p.D214del	HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000339872.4_In_Frame_Del_p.D214del|HMGB1_ENST00000399494.1_In_Frame_Del_p.D214del|HMGB1_ENST00000341423.5_In_Frame_Del_p.D214del			P09429	HMGB1_HUMAN	high mobility group box 1	214	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		ACCAACTTATTCATCATCAtcat	0.369														3	0.000599042	0.0	0.0	5008	,	,		18552	0.002		0.0	False		,,,				2504	0.001					ENST00000405805.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(640-645)gaa>ga		high mobility group box 1																																				SO:0001651	inframe_deletion	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31035498_31035500delTCA	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.642_644delTGA	13.37:g.31035507_31035509delTCA	ENSP00000384678:p.Asp214del					HMGB1_ENST00000339872.4_In_Frame_Del_p.DE214del|HMGB1_ENST00000341423.5_In_Frame_Del_p.DE214del|HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000399494.1_In_Frame_Del_p.DE214del	p.DE214del			P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	5	1582_1584	-		Lung SC(185;0.0257)	214			Asp/Glu-rich (acidic).		A5D8W9|Q14321|Q5T7C3|Q6IBE1	In_Frame_Del	DEL	ENST00000405805.1	37	c.642_644delTGA	CCDS9335.1																																																																																				0.369	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		7	106						7	106	---	---	---	---
FBXL3	26224	broad.mit.edu	37	13	77581683	77581683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr13:77581683delA	ENST00000355619.5	-	5	1208	c.884delT	c.(883-885)ttafs	p.L295fs	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	295					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L295fs*3(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTTCATATAAAAAAAAATA	0.418																																						ENST00000355619.5																			1	Insertion - Frameshift(1)	p.L295fs*3(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(883-885)tafs		F-box and leucine-rich repeat protein 3							72.0	73.0	72.0					13																	77581683		2203	4300	6503	SO:0001589	frameshift_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581683delA	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.884delT	13.37:g.77581683delA	ENSP00000347834:p.Leu295fs					FBXL3_ENST00000477982.1_Intron	p.L295fs	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1208	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	295					B2RB04|Q9P122	Frame_Shift_Del	DEL	ENST00000355619.5	37	c.884delT	CCDS9457.1																																																																																				0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			11	222						11	222	---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaacagfs	p.Q728fs	RBM26_ENST00000438724.1_Frame_Shift_Ins_p.Q704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.Q701fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2179-2184)aaaggafs		RNA binding motif protein 26																																				SO:0001589	frameshift_variant	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79918806_79918807insT	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2182dupA	13.37:g.79918815_79918815dupT	ENSP00000387531:p.Gln728fs					RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs	p.G728fs			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	15	2621_2622	-		Acute lymphoblastic leukemia(28;0.0279)	728					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Frame_Shift_Ins	INS	ENST00000438737.2	37	c.2181_2182insA																																																																																					0.332	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		7	132						7	132	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102445788	102445788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr14:102445788delT	ENST00000360184.4	+	3	641	c.477delT	c.(475-477)cctfs	p.P159fs		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	159	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGTGGCTCCTTTTTTTAAGT	0.408																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(475-477)ccfs		dynein, cytoplasmic 1, heavy chain 1							107.0	108.0	108.0					14																	102445788		2203	4300	6503	SO:0001589	frameshift_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102445788delT	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.477delT	14.37:g.102445788delT	ENSP00000348965:p.Pro159fs						p.P159fs	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			3	641	+			159			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Frame_Shift_Del	DEL	ENST00000360184.4	37	c.477delT	CCDS9966.1																																																																																				0.408	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		7	458						7	458	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23283336	23283337	+	RNA	INS	-	-	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	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			10	80						10	80	---	---	---	---
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-	rs376357384	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2				ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1																		tttttaaactaaaaaaaaaaa	0.373													|||unknown(NO_COVERAGE)	2110	0.421326	0.4274	0.4049	5008	,	,		13748	0.4395		0.4095	False		,,,				2504	0.4182					ENST00000339094.1																			0																																																			0							g.chr15:85077360delA			15q25.2	2013-11-05	2009-12-17	2009-12-17	ENSG00000189136	ENSG00000189136			37439	pseudogene	pseudogene			"""ubiquitin-conjugating enzyme E2Q family pseudogene 1"""	UBE2QP1			Standard	NR_003661		Approved	FLJ43276	uc002bkn.1		OTTHUMG00000148662		15.37:g.85077360delA								NR_003661.2						0	1678	-									RNA	DEL	ENST00000339094.1	37																																																																																						0.373	UBE2Q2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000308970.2	NR_003661		10	26						10	26	---	---	---	---
TERF2IP	54386	broad.mit.edu	37	16	75690204	75690206	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:75690204_75690206delGAA	ENST00000300086.4	+	3	992_994	c.895_897delGAA	c.(895-897)gaadel	p.E304del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	304	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATgaggaggaagaagaagaag	0.424																																						ENST00000300086.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(895-897)del		telomeric repeat binding factor 2, interacting protein				1,182,4081		0,0,1,0,182,1949						-3.9	1.0			71	0,377,7877		0,0,0,1,375,3751	no	codingComplex	TERF2IP	NM_018975.3		0,0,1,1,557,5700	A1A1,A1A2,A1R,A2A2,A2R,RR		4.5675,4.2917,4.4736				1,559,11958				SO:0001651	inframe_deletion	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75690204_75690206delGAA	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.895_897delGAA	16.37:g.75690213_75690215delGAA	ENSP00000300086:p.Glu304del						p.E304del	NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN			3	992_994	+			304			Asp/Glu-rich (acidic).		B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	In_Frame_Del	DEL	ENST00000300086.4	37	c.895_897delGAA	CCDS32491.1																																																																																				0.424	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		8	233						8	233	---	---	---	---
TUBB8P7	197331	broad.mit.edu	37	16	90161966	90161966	+	RNA	DEL	T	T	-	rs56265310	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:90161966delT	ENST00000564451.1	+	0	1319				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTACCATGAGTTGGGGTCACC	0.542													|||unknown(NO_COVERAGE)	2930	0.585064	0.9251	0.4539	5008	,	,		11430	0.7718		0.3807	False		,,,				2504	0.2362					ENST00000567960.1																			0																																																			0							g.chr16:90161966delT			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161966delT						TUBB8P7_ENST00000564451.1_RNA								0	702	+									RNA	DEL	ENST00000564451.1	37																																																																																						0.542	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	96						8	96	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-	rs376204328		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	SOX15_ENST00000570788.1_5'Flank|SOX15_ENST00000250055.2_5'Flank|MPDU1_ENST00000423172.2_3'UTR|SOX15_ENST00000538513.2_5'Flank|FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1771-1776)cgt>cg		fragile X mental retardation, autosomal homolog 2																																				SO:0001651	inframe_deletion	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495872_7495874delCGG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1773_1775delCCG	17.37:g.7495881_7495883delCGG	ENSP00000250113:p.Arg592del					MPDU1_ENST00000423172.2_3'UTR	p.RR591del	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	15	2107_2109	-			591		R -> P (in dbSNP:rs36013555).	Poly-Arg.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	In_Frame_Del	DEL	ENST00000250113.7	37	c.1773_1775delCCG	CCDS45604.1																																																																																				0.547	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			7	1034						7	1034	---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27620932	27620934	+	In_Frame_Del	DEL	TGG	TGG	-	rs1054145	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:27620932_27620934delTGG	ENST00000225388.4	-	1	202_204	c.144_146delCCA	c.(142-147)caccat>cat	p.48_49HH>H	NUFIP2_ENST00000579665.1_In_Frame_Del_p.48_49HH>H	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	48	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			Ctggtgatgatggtggtggtggt	0.591																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(142-147)cat>ca		nuclear fragile X mental retardation protein interacting protein 2				45,4219		10,25,2097						1.8	1.0			147	17,8237		3,11,4113	no	coding	NUFIP2	NM_020772.2		13,36,6210	A1A1,A1R,RR		0.206,1.0553,0.4953				62,12456				SO:0001651	inframe_deletion	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620932_27620934delTGG	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.144_146delCCA	17.37:g.27620941_27620943delTGG	ENSP00000225388:p.His51del					NUFIP2_ENST00000579665.1_In_Frame_Del_p.HH50del	p.HH50del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	202_204	-			50			His-rich.		A1L3A6|Q9P2M5	In_Frame_Del	DEL	ENST00000225388.4	37	c.144_146delCCA	CCDS32600.1																																																																																				0.591	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		10	515						10	515	---	---	---	---
DDX42	11325	broad.mit.edu	37	17	61899155	61899157	+	IGR	DEL	CTC	CTC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:61899155_61899157delCTC	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_In_Frame_Del_p.E508del	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GCAGTGGATTCTCCTCCTCCTCC	0.537																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1522-1524)del		FtsJ homolog 3 (E. coli)				1,4263		0,1,2131						5.2	1.0			197	2,8252		0,2,4125	no	coding	FTSJ3	NM_017647.3		0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024				3,12515				SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61899155_61899157delCTC	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61899164_61899166delCTC							p.E508del	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			15	2167_2169	-			508					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	In_Frame_Del	DEL	ENST00000578681.1	37	c.1522_1524delGAG	CCDS32704.1																																																																																				0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		8	709						8	709	---	---	---	---
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:39898948_39898950delCAC	ENST00000248673.3	+	2	648_650	c.590_592delCAC	c.(589-594)tcacca>tca	p.P201del	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_In_Frame_Del_p.P207del	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	201					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(607-612)tca>t		ZFP36 ring finger protein				17,4235		5,7,2114						3.3	0.1			74	14,8216		2,10,4103	no	coding	ZFP36	NM_003407.2		7,17,6217	A1A1,A1R,RR		0.1701,0.3998,0.2484				31,12451				SO:0001651	inframe_deletion	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898948_39898950delCAC	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.590_592delCAC	19.37:g.39898957_39898959delCAC	ENSP00000248673:p.Pro201del					ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del	p.SP203del			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	682_684	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		197					B2RA54	In_Frame_Del	DEL	ENST00000248673.3	37	c.608_610delCAC																																																																																					0.685	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				8	1057						8	1057	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_ENST00000542837.1_In_Frame_Del_p.E466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.E173del|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2128-2133)gac>ga		solute carrier family 8 (sodium/calcium exchanger), member 2																																				SO:0001651	inframe_deletion	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935681_47935683delTCC	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2130_2132delGGA	19.37:g.47935690_47935692delTCC	ENSP00000236877:p.Glu710del					SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR	p.ED710del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2525_2527	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	710					B4DYQ9	In_Frame_Del	DEL	ENST00000236877.6	37	c.2130_2132delGGA	CCDS33065.1																																																																																				0.616	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			17	400						17	400	---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48665600	48665600	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:48665600delA	ENST00000263274.7	-	3	445	c.26delT	c.(25-27)ttcfs	p.F9fs	LIG1_ENST00000427526.2_Intron|LIG1_ENST00000536218.1_Frame_Shift_Del_p.F9fs|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	9					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTTGGGGTGGAAAAATGACCT	0.453								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(25-27)tcfs	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						126.0	125.0	125.0					19																	48665600		2203	4300	6503	SO:0001589	frameshift_variant	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48665600delA		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.26delT	19.37:g.48665600delA	ENSP00000263274:p.Phe9fs					LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000427526.2_Intron|LIG1_ENST00000536218.1_Frame_Shift_Del_p.F9fs	p.F9fs	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	3	445	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	9					B2RAI8|Q2TB12|Q32P23	Frame_Shift_Del	DEL	ENST00000263274.7	37	c.26delT	CCDS12711.1																																																																																				0.453	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		7	532						7	532	---	---	---	---
FLT3LG	2323	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	CTG	-	rs372504451		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:49978960_49978962delCTG	ENST00000594009.1	+	2	125_127	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|CTD-3148I10.15_ENST00000595815.1_RNA	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	20					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621																																						ENST00000594009.1																			0				large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(46-48)del		fms-related tyrosine kinase 3 ligand																																				SO:0001651	inframe_deletion	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49978960_49978962delCTG	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.46_48delCTG	19.37:g.49978969_49978971delCTG	ENSP00000469613:p.Leu20del					FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del	p.L20del	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	2	125_127	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	20					A0AVC2|B9EGH2|Q05C96	In_Frame_Del	DEL	ENST00000594009.1	37	c.46_48delCTG	CCDS12767.1																																																																																				0.621	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			7	306						7	306	---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	GAG	-	rs547594353	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr20:23345921_23345923delGAG	ENST00000338121.5	+	2	978_980	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000461789.1_3'UTR			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	306					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(901-903)del		GDNF-inducible zinc finger protein 1				7,68,4189		0,0,7,1,66,2058						-8.0	0.0			52	1,62,8191		0,0,1,3,56,4067	no	codingComplex	GZF1	NM_022482.3		0,0,8,4,122,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.7633,1.7589,1.1024				8,130,12380				SO:0001651	inframe_deletion	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345921_23345923delGAG	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.901_903delGAG	20.37:g.23345930_23345932delGAG	ENSP00000338290:p.Glu306del					GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del	p.E306del			Q9H116	GZF1_HUMAN			2	978_980	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		306					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	In_Frame_Del	DEL	ENST00000338121.5	37	c.901_903delGAG	CCDS13151.1																																																																																				0.532	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		8	241						8	241	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr22:30742328_30742330delCTG	ENST00000215793.8	-	3	518_520	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606																																						ENST00000215793.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(364-366)del		splicing factor 3a, subunit 1, 120kDa																																				SO:0001651	inframe_deletion	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30742328_30742330delCTG	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.364_366delCAG	22.37:g.30742337_30742339delCTG	ENSP00000215793:p.Gln122del					SF3A1_ENST00000439242.1_Intron	p.Q122del	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN			3	518_520	-			122			Poly-Gln.		E9PAW1	In_Frame_Del	DEL	ENST00000215793.8	37	c.364_366delCAG	CCDS13875.1																																																																																				0.606	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		11	432						11	432	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-	rs375955867		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr22:36689419_36689421delCCT	ENST00000216181.5	-	30	4279_4281	c.4049_4051delAGG	c.(4048-4053)gaggcc>gcc	p.E1350del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 11). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.65			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4048-4053)gcc>g		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36689419_36689421delCCT		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4049_4051delAGG	22.37:g.36689428_36689430delCCT	ENSP00000216181:p.Glu1350del						p.EA1350del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			30	4279_4281	-			1350	E -> EE (in Ref. 7).				A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.4049_4051delAGG	CCDS13927.1																																																																																				0.650	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		7	302						7	302	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120029	38120031	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr22:38120029_38120031delCCT	ENST00000406386.3	+	7	1721_1723	c.1466_1468delCCT	c.(1465-1470)gcctcc>gcc	p.S491del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	491					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1465-1470)gcc>g		TRIO and F-actin binding protein																																				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120029_38120031delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1466_1468delCCT	22.37:g.38120032_38120034delCCT	ENSP00000384312:p.Ser491del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS489del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1721_1723	+	Melanoma(58;0.0574)		489					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1466_1468delCCT	CCDS43015.1																																																																																				0.601	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			14	432						14	432	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	GCA	-	rs143615881		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr22:42262949_42262951delGCA	ENST00000361204.4	+	2	369_371	c.203_205delGCA	c.(202-207)ggcagc>ggc	p.S74del		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	74	Gly/Pro/Ser-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(202-207)ggc>g		sterol regulatory element binding transcription factor 2																																				SO:0001651	inframe_deletion	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42262949_42262951delGCA	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.203_205delGCA	22.37:g.42262958_42262960delGCA	ENSP00000354476:p.Ser74del						p.GS68del	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			2	369_371	+			68			Gly/Pro/Ser-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	In_Frame_Del	DEL	ENST00000361204.4	37	c.203_205delGCA	CCDS14023.1																																																																																				0.567	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		15	356						15	356	---	---	---	---
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-	rs552164906		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(895-897)atfs		ADP-ribosylation factor GTPase activating protein 3							317.0	285.0	296.0					22																	43213780		2203	4300	6503	SO:0001589	frameshift_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43213780delT	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.896delA	22.37:g.43213780delT	ENSP00000263245:p.Asn299fs					ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs	p.N299fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			10	1115	-			299					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Del	DEL	ENST00000263245.5	37	c.896delA	CCDS14042.1																																																																																				0.363	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		7	501						7	501	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70603000	70603000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:70603000delA	ENST00000373790.4	+	12	1981	c.1930delA	c.(1930-1932)aaafs	p.K646fs	TAF1_ENST00000449580.1_Frame_Shift_Del_p.K646fs|TAF1_ENST00000276072.3_Frame_Shift_Del_p.K667fs|TAF1_ENST00000423759.1_Frame_Shift_Del_p.K667fs	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	646	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAAGCACATCAAAAAAAAGGC	0.408																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(1930-1932)aafs		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							44.0	42.0	43.0					X																	70603000		2203	4300	6503	SO:0001589	frameshift_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70603000delA		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1930delA	X.37:g.70603000delA	ENSP00000362895:p.Lys646fs					TAF1_ENST00000373790.4_Frame_Shift_Del_p.K646fs|TAF1_ENST00000423759.1_Frame_Shift_Del_p.K667fs|TAF1_ENST00000276072.3_Frame_Shift_Del_p.K667fs	p.K646fs			P21675	TAF1_HUMAN			12	1981	+	Renal(35;0.156)	all_lung(315;0.000321)	646					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Frame_Shift_Del	DEL	ENST00000373790.4	37	c.1930delA	CCDS35325.1																																																																																				0.408	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		10	273						10	273	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	lincRNA	DEL	AC	AC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCCACACATGACACACACACAC	0.47																																						ENST00000604411.1																			0																	21,2160		6,4,5,902,352						-3.8	0.0			146	63,3745		10,20,23,1404,917	no	intergenic				16,24,28,2306,1269	A1A1,A1R,A1,RR,R		1.6544,0.9629,1.4026				84,5905						0							g.chrX:73047124_73047125delAC			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047134_73047135delAC						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	35085_35086	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.470	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		9	430						9	430	---	---	---	---
ARMCX3	51566	broad.mit.edu	37	X	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tctgat>tct	p.D66del	RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000537169.1_In_Frame_Del_p.D66del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.D66del|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	66					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(181-186)tct>tc		armadillo repeat containing, X-linked 3																																				SO:0001651	inframe_deletion	51566					integral to membrane	binding	g.chrX:100880152_100880154delTGA	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.183_185delTGA	X.37:g.100880161_100880163delTGA	ENSP00000340672:p.Asp66del					ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del|ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del	p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1049_1051	+			61					Q53HC6|Q7LCF5|Q9NPE4	In_Frame_Del	DEL	ENST00000341189.4	37	c.183_185delTGA	CCDS14489.1																																																																																				0.517	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		7	803						7	803	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S|CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		11	238						11	238	---	---	---	---
