#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
RANGAP1	5905	broad.mit.edu	37	22	41650338	41650338	+	Missense_Mutation	SNP	G	G	A	rs139571477	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:41650338G>A	ENST00000455915.2	-	10	2703	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	RANGAP1_ENST00000405486.1_Missense_Mutation_p.R412W|RANGAP1_ENST00000356244.3_Missense_Mutation_p.R412W|RANGAP1_ENST00000407260.4_Missense_Mutation_p.R357W			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	412					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGAATCTTCCGTGAGGGCGTG	0.552													G|||	6	0.00119808	0.0015	0.0029	5008	,	,		17459	0.0		0.001	False		,,,				2504	0.001					ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1234-1236)Cgg>Tgg		Ran GTPase activating protein 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	304.0	213.0	244.0		1234	2.2	0.4	22	dbSNP_134	244	12,8588	9.1+/-34.3	0,12,4288	yes	missense	RANGAP1	NM_002883.2	101	0,13,6490	AA,AG,GG		0.1395,0.0227,0.1	probably-damaging	412/588	41650338	13,12993	2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650338G>A	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1234C>T	22.37:g.41650338G>A	ENSP00000401470:p.Arg412Trp					RANGAP1_ENST00000356244.3_Missense_Mutation_p.R412W|RANGAP1_ENST00000407260.4_Missense_Mutation_p.R357W|RANGAP1_ENST00000405486.1_Missense_Mutation_p.R412W	p.R412W			P46060	RAGP1_HUMAN			10	2703	-			412					Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.1234C>T	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101483	0.37048	2.27E-4	0.001395	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.39	2.17	0.27698	Ran-GTPase activating protein 1, C-terminal (1);	1.014230	0.07853	N	0.965026	T	0.45975	0.1369	L	0.36672	1.1	0.19775	N	0.999959	D;D	0.76494	0.999;0.995	P;P	0.54372	0.711;0.75	T	0.34054	-0.9844	10	0.72032	D	0.01	-21.7601	8.6119	0.33808	0.0:0.0:0.4106:0.5894	.	357;412	F8W7I9;P46060	.;RAGP1_HUMAN	W	412;412;412;412;357	ENSP00000385866:R412W;ENSP00000348577:R412W;ENSP00000401470:R412W;ENSP00000385354:R357W	ENSP00000348577:R412W	R	-	1	2	RANGAP1	39980284	0.792000	0.28813	0.401000	0.26359	0.093000	0.18481	0.893000	0.28336	0.297000	0.22615	-0.521000	0.04368	CGG		0.552	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		63	252	0	0	0	1	0	63	252				
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371100.4_Missense_Mutation_p.R844H	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		88	Substitution - Missense(88)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2530-2532)cGt>cAt		GNAS complex locus							80.0	78.0	79.0					20																	57484421		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484421G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.602G>A	20.37:g.57484421G>A	ENSP00000360126:p.Arg201His	TSP Lung(22;0.16)				GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H	p.R844H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	3083	+	all_lung(29;0.0104)		201					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2531G>A	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT		0.423	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		5	308	0	0	0	1	0	5	308				
SPAG17	200162	broad.mit.edu	37	1	118550780	118550780	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:118550780G>A	ENST00000336338.5	-	31	4539	c.4474C>T	c.(4474-4476)Cgg>Tgg	p.R1492W		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1492						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTTCTACCCGCATACACTTC	0.493																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4474-4476)Cgg>Tgg		sperm associated antigen 17							127.0	103.0	111.0					1																	118550780		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118550780G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4474C>T	1.37:g.118550780G>A	ENSP00000337804:p.Arg1492Trp						p.R1492W	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	31	4539	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1492					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4474C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785810	0.31593	.	.	ENSG00000155761	ENST00000336338	T	0.23348	1.91	5.83	2.83	0.33086	.	0.346719	0.27932	N	0.017261	T	0.26048	0.0635	L	0.41961	1.31	0.30207	N	0.798109	D	0.89917	1.0	D	0.66196	0.942	T	0.11470	-1.0586	10	0.62326	D	0.03	.	14.1367	0.65291	0.0:0.0:0.6081:0.3919	.	1492	Q6Q759	SPG17_HUMAN	W	1492	ENSP00000337804:R1492W	ENSP00000337804:R1492W	R	-	1	2	SPAG17	118352303	0.805000	0.28982	0.998000	0.56505	0.340000	0.28889	1.437000	0.34991	0.326000	0.23384	0.563000	0.77884	CGG		0.493	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		16	194	0	0	0	1	0	16	194				
ASS1	445	broad.mit.edu	37	9	133364801	133364801	+	Missense_Mutation	SNP	G	G	A	rs571576756		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:133364801G>A	ENST00000372394.1	+	13	1401	c.920G>A	c.(919-921)cGc>cAc	p.R307H	ASS1_ENST00000372393.3_Missense_Mutation_p.R307H|ASS1_ENST00000352480.5_Missense_Mutation_p.R307H			P00966	ASSY_HUMAN	argininosuccinate synthase 1	307			R -> C (in CTLN1; dbSNP:rs183276875).		acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGGGAAGTGCGCAAAATCAAA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16284	0.0		0.001	False		,,,				2504	0.0					ENST00000372394.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(919-921)cGc>cAc		argininosuccinate synthase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						135.0	149.0	144.0					9																	133364801		2203	4300	6503	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133364801G>A	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.920G>A	9.37:g.133364801G>A	ENSP00000361471:p.Arg307His					ASS1_ENST00000372393.3_Missense_Mutation_p.R307H|ASS1_ENST00000352480.5_Missense_Mutation_p.R307H	p.R307H			P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	13	1401	+			307		R -> C (in CTLN1).			Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.920G>A	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422464	0.62622	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000372386	D;D;D;D	0.99105	-5.43;-5.43;-5.43;-5.08	4.5	4.5	0.54988	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.000000	0.85682	U	0.000000	D	0.97087	0.9048	L	0.55103	1.725	0.80722	D	1	B;B;B;B;B	0.31274	0.243;0.317;0.317;0.243;0.243	B;B;B;B;B	0.20955	0.032;0.031;0.031;0.021;0.021	D	0.98310	1.0523	10	0.15952	T	0.53	.	16.5684	0.84604	0.0:0.0:1.0:0.0	.	307;190;190;307;307	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	H	307;307;307;307;64	ENSP00000253004:R307H;ENSP00000361471:R307H;ENSP00000361469:R307H;ENSP00000361461:R64H	ENSP00000361470:R307H	R	+	2	0	ASS1	132354622	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.182000	0.94881	2.220000	0.72140	0.462000	0.41574	CGC		0.532	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		6	909	0	0	0	1	0	6	909				
IGHV3-21	28444	broad.mit.edu	37	14	106691922	106691922	+	RNA	SNP	C	C	T	rs528633029	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:106691922C>T	ENST00000390607.2	-	0	180									immunoglobulin heavy variable 3-21																		TCAGGGACCCCCCAGGCTTGA	0.587													c|||	9	0.00179712	0.0061	0.0014	5008	,	,		10340	0.0		0.0	False		,,,				2504	0.0					ENST00000390607.2																			0																				102.0	96.0	98.0					14																	106691922		1874	4103	5977			0							g.chr14:106691922C>T	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691922C>T														0	180	-									RNA	SNP	ENST00000390607.2	37																																																																																						0.587	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		10	749	0	0	0	1	0	10	749				
ZNF227	7770	broad.mit.edu	37	19	44739673	44739673	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:44739673A>T	ENST00000313040.7	+	6	1295	c.1090A>T	c.(1090-1092)Agt>Tgt	p.S364C	ZNF227_ENST00000589005.1_Missense_Mutation_p.S313C|ZNF227_ENST00000391961.2_Missense_Mutation_p.S313C	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CTTTAGTCAAAGTTCAAATTT	0.423																																						ENST00000313040.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24						c.(1090-1092)Agt>Tgt		zinc finger protein 227							74.0	81.0	79.0					19																	44739673		2203	4300	6503	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44739673A>T	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1090A>T	19.37:g.44739673A>T	ENSP00000321049:p.Ser364Cys					ZNF227_ENST00000391961.2_Missense_Mutation_p.S313C|ZNF227_ENST00000589005.1_Missense_Mutation_p.S313C	p.S364C	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN			6	1295	+		Prostate(69;0.0435)	364					B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.1090A>T	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808701	0.50421	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.16743	2.32;3.13	4.54	4.54	0.55810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27027	0.0662	M	0.78285	2.405	0.18873	N	0.999988	B;B;D;B	0.64830	0.238;0.114;0.994;0.114	B;B;P;B	0.47402	0.016;0.023;0.546;0.023	T	0.21484	-1.0244	9	0.52906	T	0.07	.	8.7324	0.34507	0.8306:0.0:0.0:0.1694	.	285;343;316;364	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	C	364;321;313;343;65	ENSP00000321049:S364C;ENSP00000375823:S313C	ENSP00000321049:S364C	S	+	1	0	ZNF227	49431513	0.062000	0.20869	0.998000	0.56505	0.993000	0.82548	1.890000	0.39728	1.801000	0.52704	0.460000	0.39030	AGT		0.423	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		5	327	0	0	0	1	0	5	327				
ABCA9	10350	broad.mit.edu	37	17	67016614	67016614	+	Missense_Mutation	SNP	C	C	T	rs61740908		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:67016614C>T	ENST00000340001.4	-	19	2726	c.2515G>A	c.(2515-2517)Gtg>Atg	p.V839M	ABCA9_ENST00000370732.2_Missense_Mutation_p.V839M|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.V839M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	839					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V839M(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CAGAGCGCCACGCCACTGATT	0.443																																						ENST00000340001.4																			1	Substitution - Missense(1)	p.V839M(1)	central_nervous_system(1)	NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2515-2517)Gtg>Atg		ATP-binding cassette, sub-family A (ABC1), member 9							117.0	108.0	111.0					17																	67016614		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67016614C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2515G>A	17.37:g.67016614C>T	ENSP00000342216:p.Val839Met					ABCA9_ENST00000453985.2_Missense_Mutation_p.V839M|ABCA9_ENST00000370732.2_Missense_Mutation_p.V839M	p.V839M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			19	2726	-	Breast(10;1.47e-12)		839					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2515G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	c	0.305	-0.971160	0.02232	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.75938	-0.98;-0.98	5.08	-4.05	0.03998	.	0.703590	0.12727	N	0.444186	T	0.26593	0.0650	N	0.00413	-1.525	0.22684	N	0.998856	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.001	T	0.45205	-0.9277	10	0.02654	T	1	.	2.4227	0.04452	0.1895:0.1485:0.43:0.232	.	839;839	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	M	839;822;839;834	ENSP00000342216:V839M;ENSP00000359767:V839M	ENSP00000342216:V839M	V	-	1	0	ABCA9	64528209	0.000000	0.05858	0.810000	0.32431	0.644000	0.38419	-0.621000	0.05559	-0.594000	0.05836	-0.464000	0.05259	GTG		0.443	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		10	545	0	0	0	1	0	10	545				
CHAF1B	8208	broad.mit.edu	37	21	37783861	37783861	+	Silent	SNP	C	C	T	rs370336150		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr21:37783861C>T	ENST00000314103.5	+	11	1171	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	340					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CTTTTGGTTACGTGTCTAATA	0.522																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(1018-1020)taC>taT		chromatin assembly factor 1, subunit B (p60)		C		1,4405	2.1+/-5.4	0,1,2202	228.0	199.0	209.0		1020	-3.6	0.5	21		209	0,8600		0,0,4300	no	coding-synonymous	CHAF1B	NM_005441.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		340/560	37783861	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37783861C>T	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1020C>T	21.37:g.37783861C>T							p.Y340Y	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			11	1171	+			340					Q99548	Silent	SNP	ENST00000314103.5	37	c.1020C>T	CCDS13644.1																																																																																				0.522	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		6	761	0	0	0	1	0	6	761				
DOCK3	1795	broad.mit.edu	37	3	51400102	51400102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:51400102C>T	ENST00000266037.9	+	49	5313	c.5290C>T	c.(5290-5292)Cga>Tga	p.R1764*		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1764	Ser-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTCCAGTGCCCGAGGTAAGGA	0.562																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5290-5292)Cga>Tga		dedicator of cytokinesis 3							47.0	48.0	48.0					3																	51400102		2043	4199	6242	SO:0001587	stop_gained	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51400102C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5290C>T	3.37:g.51400102C>T	ENSP00000266037:p.Arg1764*						p.R1764*	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	49	5313	+			1764			Ser-rich.		O15017	Nonsense_Mutation	SNP	ENST00000266037.9	37	c.5290C>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	44	10.689336	0.99450	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	15.6164	0.76769	0.1379:0.862:0.0:0.0	.	.	.	.	X	1764;560	.	ENSP00000266037:R1764X	R	+	1	2	DOCK3	51375142	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.049000	0.49869	2.605000	0.88082	0.563000	0.77884	CGA		0.562	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		26	50	0	0	0	1	0	26	50				
EIF2B5	8893	broad.mit.edu	37	3	183855998	183855998	+	Silent	SNP	T	T	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:183855998T>C	ENST00000273783.3	+	5	851	c.729T>C	c.(727-729)gaT>gaC	p.D243D	EIF2B5_ENST00000444495.1_Silent_p.D243D|RP11-778D9.12_ENST00000608135.1_RNA	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	243					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TTCGATATGATTTACTGGATT	0.478																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(727-729)gaT>gaC		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							182.0	166.0	172.0					3																	183855998		2203	4300	6503	SO:0001819	synonymous_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183855998T>C	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.729T>C	3.37:g.183855998T>C						EIF2B5_ENST00000444495.1_Silent_p.D243D	p.D243D	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	851	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		243					Q541Z1|Q96D04	Silent	SNP	ENST00000273783.3	37	c.729T>C	CCDS3252.1																																																																																				0.478	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			20	439	0	0	0	1	0	20	439				
ACADL	33	broad.mit.edu	37	2	211070474	211070474	+	Missense_Mutation	SNP	G	G	A	rs546101555		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:211070474G>A	ENST00000233710.3	-	6	877	c.650C>T	c.(649-651)gCg>gTg	p.A217V	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	217					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ATTTGTGACCGCAACTACAAT	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17317	0.0		0.0	False		,,,				2504	0.0					ENST00000233710.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(649-651)gCg>gTg		acyl-CoA dehydrogenase, long chain							142.0	130.0	134.0					2																	211070474		2203	4300	6503	SO:0001583	missense	33				carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	g.chr2:211070474G>A	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.650C>T	2.37:g.211070474G>A	ENSP00000233710:p.Ala217Val					AC006994.2_ENST00000412065.1_RNA	p.A217V	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	6	877	-		Renal(323;0.202)	217					B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	37	c.650C>T	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630025	0.28978	.	.	ENSG00000115361	ENST00000233710	D	0.97505	-4.41	5.28	4.41	0.53225	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.208411	0.49305	D	0.000151	D	0.95500	0.8538	L	0.46885	1.475	0.43141	D	0.994895	P	0.45594	0.862	P	0.44772	0.46	D	0.94867	0.8027	10	0.51188	T	0.08	.	14.1005	0.65051	0.0727:0.0:0.9273:0.0	.	217	P28330	ACADL_HUMAN	V	217	ENSP00000233710:A217V	ENSP00000233710:A217V	A	-	2	0	ACADL	210778719	1.000000	0.71417	0.009000	0.14445	0.008000	0.06430	7.334000	0.79224	1.240000	0.43803	-0.137000	0.14449	GCG		0.398	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		6	347	0	0	0	1	0	6	347				
ZNF404	342908	broad.mit.edu	37	19	44388109	44388109	+	Splice_Site	SNP	C	C	T	rs550096239	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:44388109C>T	ENST00000587539.1	-	1	7	c.8G>A	c.(7-9)cGg>cAg	p.R3Q	ZNF404_ENST00000588094.1_5'UTR	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	3					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)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TCAACTCACCCGGGCCATGGT	0.388													T|||	8	0.00159744	0.0	0.0	5008	,	,		19816	0.0		0.0	False		,,,				2504	0.0082					ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.e1+1		zinc finger protein 404							95.0	99.0	98.0					19																	44388109		1836	4093	5929	SO:0001630	splice_region_variant	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44388109C>T	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.9+1G>A	19.37:g.44388109C>T						ZNF404_ENST00000588094.1_5'UTR	p.R3_splice	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN			1	7	-		Prostate(69;0.0352)	3					A4FU30|K7ELF2	Splice_Site	SNP	ENST00000587539.1	37	c.9_splice	CCDS59394.1																																																																																				0.388	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719	Missense_Mutation	41	169	0	0	0	1	0	41	169				
GEMIN5	25929	broad.mit.edu	37	5	154292538	154292538	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:154292538G>A	ENST00000285873.7	-	14	1991	c.1916C>T	c.(1915-1917)aCg>aTg	p.T639M		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	639					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATCTTGGCCGTATGCCCTGA	0.522																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1915-1917)aCg>aTg		gem (nuclear organelle) associated protein 5							116.0	101.0	106.0					5																	154292538		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154292538G>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.1916C>T	5.37:g.154292538G>A	ENSP00000285873:p.Thr639Met						p.T639M	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		14	1991	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	639					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.1916C>T	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766113	0.69878	.	.	ENSG00000082516	ENST00000285873	T	0.65549	-0.16	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80742	0.4681	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82647	-0.0354	10	0.87932	D	0	-17.564	19.0919	0.93229	0.0:0.0:1.0:0.0	.	638;639	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	M	639	ENSP00000285873:T639M	ENSP00000285873:T639M	T	-	2	0	GEMIN5	154272731	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	8.881000	0.92415	2.667000	0.90743	0.561000	0.74099	ACG		0.522	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			5	315	0	0	0	1	0	5	315				
SF3B1	23451	broad.mit.edu	37	2	198267359	198267359	+	Missense_Mutation	SNP	C	C	G	rs377023736		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:198267359C>G	ENST00000335508.6	-	14	2089	c.1998G>C	c.(1996-1998)aaG>aaC	p.K666N	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	666					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K666N(19)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTACAATCTTAATACCAG	0.413			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		19	Substitution - Missense(19)	p.K666N(19)	haematopoietic_and_lymphoid_tissue(15)|NS(3)|endometrium(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1996-1998)aaG>aaC		splicing factor 3b, subunit 1, 155kDa		C	ASN/LYS	0,4406		0,0,2203	116.0	116.0	116.0		1998	4.8	1.0	2		116	1,8599	1.2+/-3.3	0,1,4299	no	missense	SF3B1	NM_012433.2	94	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	666/1305	198267359	1,13005	2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267359C>G	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1998G>C	2.37:g.198267359C>G	ENSP00000335321:p.Lys666Asn						p.K666N	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	2089	-			666					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1998G>C	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159735	0.78226	0.0	1.16E-4	ENSG00000115524	ENST00000335508	T	0.65732	-0.17	5.68	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83575	0.5284	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87121	0.2191	10	0.87932	D	0	.	11.0204	0.47715	0.0:0.8576:0.0:0.1424	.	666	O75533	SF3B1_HUMAN	N	666	ENSP00000335321:K666N	ENSP00000335321:K666N	K	-	3	2	SF3B1	197975604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.643000	0.46604	1.410000	0.46936	0.561000	0.74099	AAG		0.413	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			11	319	0	0	0	1	0	11	319				
SEZ6L	23544	broad.mit.edu	37	22	26736580	26736580	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:26736580T>C	ENST00000248933.6	+	10	2289	c.2194T>C	c.(2194-2196)Ttt>Ctt	p.F732L	SEZ6L_ENST00000360929.3_Missense_Mutation_p.F732L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.F505L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.F505L|SEZ6L_ENST00000529632.2_Missense_Mutation_p.F732L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.F732L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.F732L			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	732	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGGCCAGGGATTTATCATGAA	0.458																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(2194-2196)Ttt>Ctt		seizure related 6 homolog (mouse)-like							85.0	76.0	79.0					22																	26736580		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26736580T>C	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2194T>C	22.37:g.26736580T>C	ENSP00000248933:p.Phe732Leu					SEZ6L_ENST00000248933.6_Missense_Mutation_p.F732L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.F505L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.F732L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.F732L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.F505L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.F732L	p.F732L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			10	2390	+			732			CUB 3.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2194T>C	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.455009	0.63290	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.01	5.01	0.66863	CUB (4);	0.000000	0.56097	D	0.000031	T	0.73916	0.3648	M	0.91663	3.23	0.80722	D	1	B;B;B;B;B;B;B	0.22480	0.007;0.07;0.007;0.056;0.05;0.07;0.07	B;B;B;B;B;B;B	0.23574	0.022;0.046;0.024;0.027;0.047;0.046;0.046	T	0.75761	-0.3204	10	0.56958	D	0.05	.	14.0549	0.64761	0.0:0.0:0.0:1.0	.	732;732;505;732;732;732;732	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	L	732;732;732;732;732;505;505	ENSP00000384772:F732L;ENSP00000437037:F732L;ENSP00000354185:F732L;ENSP00000248933:F732L;ENSP00000342661:F732L;ENSP00000384838:F505L;ENSP00000384733:F505L	ENSP00000248933:F732L	F	+	1	0	SEZ6L	25066580	1.000000	0.71417	0.959000	0.39883	0.971000	0.66376	7.350000	0.79385	2.104000	0.64026	0.260000	0.18958	TTT		0.458	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			33	192	0	0	0	1	0	33	192				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	199	0	0	0	1	0	4	199				
DIDO1	11083	broad.mit.edu	37	20	61525110	61525110	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:61525110C>T	ENST00000266070.4	-	12	3334	c.3009G>A	c.(3007-3009)ttG>ttA	p.L1003L	DIDO1_ENST00000395343.1_Silent_p.L1003L|DIDO1_ENST00000395340.1_Silent_p.L1003L|DIDO1_ENST00000395335.2_Silent_p.L1003L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1003					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCACAGAAGTCAAGACAGGCT	0.567																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3007-3009)ttG>ttA		death inducer-obliterator 1							127.0	105.0	112.0					20																	61525110		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525110C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3009G>A	20.37:g.61525110C>T						DIDO1_ENST00000395335.2_Silent_p.L1003L|DIDO1_ENST00000395343.1_Silent_p.L1003L|DIDO1_ENST00000395340.1_Silent_p.L1003L	p.L1003L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			12	3334	-	Breast(26;5.68e-08)		1003					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.3009G>A	CCDS33506.1																																																																																				0.567	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		6	480	0	0	0	1	0	6	480				
KIF24	347240	broad.mit.edu	37	9	34256356	34256356	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:34256356C>G	ENST00000402558.2	-	10	3273	c.3249G>C	c.(3247-3249)gaG>gaC	p.E1083D	KIF24_ENST00000379174.3_Missense_Mutation_p.E949D|KIF24_ENST00000345050.2_Missense_Mutation_p.E949D|KIF24_ENST00000379166.2_Missense_Mutation_p.E1083D			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1083					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCCCTGTGCTCTCTGCCACTA	0.602																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(3247-3249)gaG>gaC		kinesin family member 24							46.0	39.0	41.0					9																	34256356		2203	4300	6503	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34256356C>G	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3249G>C	9.37:g.34256356C>G	ENSP00000384433:p.Glu1083Asp					KIF24_ENST00000379174.3_Missense_Mutation_p.E949D|KIF24_ENST00000402558.2_Missense_Mutation_p.E1083D|KIF24_ENST00000345050.2_Missense_Mutation_p.E949D	p.E1083D	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	3368	-			1083					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.3249G>C	CCDS6551.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.10|12.10	1.837588|1.837588	0.32513|0.32513	.|.	.|.	ENSG00000186638|ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188|ENST00000443226	T;T;T;T|.	0.73152|.	-0.5;-0.72;-0.5;-0.72|.	4.71|4.71	-2.5|-2.5	0.06384|0.06384	.|.	0.770342|0.770342	0.11063|0.11063	N|N	0.603757|0.603757	T|T	0.30135|0.30135	0.0755|0.0755	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.34527|0.34527	-0.9825|-0.9825	10|7	0.40728|0.20046	T|T	0.16|0.44	.|.	6.1763|6.1763	0.20444|0.20444	0.123:0.3985:0.0:0.4785|0.123:0.3985:0.0:0.4785	.|.	1083|.	Q5T7B8|.	KIF24_HUMAN|.	D|Q	1083;949;1083;949;1083|129	ENSP00000384433:E1083D;ENSP00000368472:E949D;ENSP00000368464:E1083D;ENSP00000340179:E949D|.	ENSP00000340179:E949D|ENSP00000414628:E129Q	E|E	-|-	3|1	2|0	KIF24|KIF24	34246356|34246356	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.120000|0.120000	0.20174|0.20174	-0.917000|-0.917000	0.04025|0.04025	-0.108000|-0.108000	0.12066|0.12066	0.563000|0.563000	0.77884|0.77884	GAG|GAG		0.602	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			13	194	0	0	0	1	0	13	194				
DCLRE1B	64858	broad.mit.edu	37	1	114454068	114454068	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:114454068T>G	ENST00000369563.3	+	4	1300	c.854T>G	c.(853-855)tTt>tGt	p.F285C	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	285					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCGTGCCTTTGTCGCAGCA	0.567								Other identified genes with known or suspected DNA repair function																														ENST00000369563.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(853-855)tTt>tGt	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							119.0	102.0	108.0					1																	114454068		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114454068T>G	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.854T>G	1.37:g.114454068T>G	ENSP00000358576:p.Phe285Cys					DCLRE1B_ENST00000466480.1_3'UTR	p.F285C	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1300	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	285					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.854T>G	CCDS866.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298120	0.81025	.	.	ENSG00000118655	ENST00000369563	T	0.61980	0.06	6.02	4.9	0.64082	DNA repair metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	M	0.85630	2.765	0.58432	D	0.999998	D	0.63046	0.992	P	0.59357	0.856	T	0.75983	-0.3125	10	0.59425	D	0.04	-9.6429	11.9514	0.52956	0.0:0.0672:0.0:0.9328	.	285	Q9H816	DCR1B_HUMAN	C	285	ENSP00000358576:F285C	ENSP00000358576:F285C	F	+	2	0	DCLRE1B	114255591	1.000000	0.71417	0.988000	0.46212	0.939000	0.58152	7.967000	0.87967	1.116000	0.41820	0.533000	0.62120	TTT		0.567	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		64	297	0	0	0	1	0	64	297				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	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	286	0	0	0	1	0	4	286				
USP44	84101	broad.mit.edu	37	12	95922666	95922666	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:95922666G>A	ENST00000258499.3	-	3	1829	c.1541C>T	c.(1540-1542)cCa>cTa	p.P514L	USP44_ENST00000393091.2_Missense_Mutation_p.P514L|USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Missense_Mutation_p.P514L	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	514	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AACCAGACATGGCTGGGAAGC	0.393																																						ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1540-1542)cCa>cTa		ubiquitin specific peptidase 44							104.0	100.0	102.0					12																	95922666		2203	4300	6503	SO:0001583	missense	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95922666G>A	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1541C>T	12.37:g.95922666G>A	ENSP00000258499:p.Pro514Leu					USP44_ENST00000393091.2_Missense_Mutation_p.P514L|USP44_ENST00000537435.2_Missense_Mutation_p.P514L|USP44_ENST00000552440.1_Intron	p.P514L	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN			3	1829	-			514					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.1541C>T	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787659	0.70337	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	T;T;T	0.02631	4.22;4.22;4.22	5.94	5.94	0.96194	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.049563	0.85682	D	0.000000	T	0.06050	0.0157	L	0.31371	0.925	0.58432	D	0.999998	P	0.37731	0.607	P	0.45913	0.497	T	0.52845	-0.8521	10	0.35671	T	0.21	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	514	Q9H0E7	UBP44_HUMAN	L	514	ENSP00000258499:P514L;ENSP00000376806:P514L;ENSP00000442629:P514L	ENSP00000258499:P514L	P	-	2	0	USP44	94446797	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.662000	0.74426	2.826000	0.97356	0.561000	0.74099	CCA		0.393	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		50	247	0	0	0	1	0	50	247				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			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_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	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		10	575	0	0	0	1	0	10	575				
FDX1	2230	broad.mit.edu	37	11	110327723	110327723	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:110327723C>A	ENST00000260270.2	+	3	630	c.392C>A	c.(391-393)aCt>aAt	p.T131N		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	131	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				cholesterol metabolic process (GO:0008203)|hormone biosynthetic process (GO:0042446)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	GATGCAATCACTGATGAGGAG	0.403																																						ENST00000260270.2																			0				lung(2)	2						c.(391-393)aCt>aAt		ferredoxin 1	Mitotane(DB00648)						259.0	223.0	236.0					11																	110327723		2201	4298	6499	SO:0001583	missense	2230				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding	g.chr11:110327723C>A	M23668	CCDS8344.1	11q22.3	2008-02-01			ENSG00000137714	ENSG00000137714			3638	protein-coding gene	gene with protein product	"""adrenodoxin"""	103260		FDX		2969697	Standard	NM_004109		Approved	ADX	uc001pkx.3	P10109	OTTHUMG00000166589	ENST00000260270.2:c.392C>A	11.37:g.110327723C>A	ENSP00000260270:p.Thr131Asn						p.T131N	NM_004109.4	NP_004100.1	P10109	ADX_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	3	630	+		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	131			2Fe-2S ferredoxin-type.		B0YJ14|Q53YD6	Missense_Mutation	SNP	ENST00000260270.2	37	c.392C>A	CCDS8344.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222520	0.79464	.	.	ENSG00000137714	ENST00000260270	.	.	.	5.46	4.55	0.56014	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.049070	0.85682	D	0.000000	T	0.66886	0.2835	L	0.52759	1.655	0.49483	D	0.999795	P	0.41366	0.747	P	0.49301	0.606	T	0.66284	-0.5962	9	0.39692	T	0.17	-2.2088	16.052	0.80772	0.0:0.8654:0.1346:0.0	.	131	P10109	ADX_HUMAN	N	131	.	ENSP00000260270:T131N	T	+	2	0	FDX1	109832933	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	4.678000	0.61641	1.304000	0.44892	0.561000	0.74099	ACT		0.403	FDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390590.1	NM_004109		12	689	1	0	0.010729	1	0.0107778	12	689				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		11	254	0	0	0	1	0	11	254				
ADAMTS16	170690	broad.mit.edu	37	5	5242275	5242275	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:5242275G>A	ENST00000274181.7	+	17	2771	c.2633G>A	c.(2632-2634)cGc>cAc	p.R878H		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	878	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCCATCGTGCGCTCTGAGTGC	0.642																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2632-2634)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							45.0	50.0	49.0					5																	5242275		2104	4223	6327	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5242275G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2633G>A	5.37:g.5242275G>A	ENSP00000274181:p.Arg878His						p.R878H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			17	2771	+			878			TSP type-1 2.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2633G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458019	0.26161	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.61274	0.12	5.73	2.91	0.33838	.	0.432157	0.23055	N	0.052451	T	0.45796	0.1360	L	0.52759	1.655	0.42913	D	0.994269	B;B	0.20550	0.046;0.021	B;B	0.12837	0.006;0.008	T	0.35351	-0.9792	10	0.49607	T	0.09	.	4.6802	0.12731	0.3127:0.152:0.5352:0.0	.	878;878	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	H	878	ENSP00000274181:R878H	ENSP00000274181:R878H	R	+	2	0	ADAMTS16	5295275	0.049000	0.20398	0.169000	0.22859	0.931000	0.56810	1.271000	0.33098	0.328000	0.23435	0.644000	0.83932	CGC		0.642	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		29	170	0	0	0	1	0	29	170				
ZNF114	163071	broad.mit.edu	37	19	48789674	48789674	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:48789674A>C	ENST00000595607.1	+	6	1287	c.793A>C	c.(793-795)Atg>Ctg	p.M265L	ZNF114_ENST00000315849.1_Missense_Mutation_p.M265L|ZNF114_ENST00000597695.1_Missense_Mutation_p.M231L|ZNF114_ENST00000600687.1_Missense_Mutation_p.M265L			Q8NC26	ZN114_HUMAN	zinc finger protein 114	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		AATTCACGCCATGCAGATGCA	0.463																																						ENST00000595607.1																			0				endometrium(1)|large_intestine(6)|lung(11)	18						c.(793-795)Atg>Ctg		zinc finger protein 114							93.0	85.0	88.0					19																	48789674		2203	4300	6503	SO:0001583	missense	163071				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:48789674A>C	BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.793A>C	19.37:g.48789674A>C	ENSP00000469998:p.Met265Leu					ZNF114_ENST00000600687.1_Missense_Mutation_p.M265L|ZNF114_ENST00000315849.1_Missense_Mutation_p.M265L|ZNF114_ENST00000597695.1_Missense_Mutation_p.M231L	p.M265L			Q8NC26	ZN114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)	6	1287	+		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	265					A8K6B0|Q08AQ6	Missense_Mutation	SNP	ENST00000595607.1	37	c.793A>C	CCDS12713.1	.	.	.	.	.	.	.	.	.	.	G	1.280	-0.610640	0.03690	.	.	ENSG00000178150	ENST00000315849	T	0.04502	3.61	2.01	0.895	0.19247	.	.	.	.	.	T	0.02304	0.0071	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48234	-0.9053	9	0.24483	T	0.36	.	4.187	0.10402	0.1438:0.0:0.6304:0.2258	.	265	Q8NC26	ZN114_HUMAN	L	265	ENSP00000318898:M265L	ENSP00000318898:M265L	M	+	1	0	ZNF114	53481486	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.407000	0.07178	0.016000	0.14998	-0.349000	0.07799	ATG		0.463	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	NM_153608		12	383	0	0	0	1	0	12	383				
GRM6	2916	broad.mit.edu	37	5	178413623	178413623	+	Silent	SNP	G	G	A	rs139758482	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:178413623G>A	ENST00000517717.1	-	9	1670	c.1632C>T	c.(1630-1632)gaC>gaT	p.D544D	GRM6_ENST00000231188.5_Silent_p.D544D|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	544					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGCGGTACCCGTCACAGGCCT	0.682													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17212	0.0		0.0	False		,,,				2504	0.0					ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1630-1632)gaC>gaT		glutamate receptor, metabotropic 6		G		1,4405		0,1,2202	45.0	39.0	41.0		1632	-1.2	0.8	5	dbSNP_134	41	2,8592		0,2,4295	yes	coding-synonymous	GRM6	NM_000843.3		0,3,6497	AA,AG,GG		0.0233,0.0227,0.0231		544/878	178413623	3,12997	2203	4297	6500	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413623G>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1632C>T	5.37:g.178413623G>A						GRM6_ENST00000517717.1_Silent_p.D544D|RP11-281O15.4_ENST00000519491.1_RNA	p.D544D	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	1810	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	544						Silent	SNP	ENST00000517717.1	37	c.1632C>T	CCDS4442.1																																																																																				0.682	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			8	239	0	0	0	1	0	8	239				
CUL4B	8450	broad.mit.edu	37	X	119674244	119674244	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chrX:119674244A>C	ENST00000404115.3	-	13	2072	c.1671T>G	c.(1669-1671)aaT>aaG	p.N557K	CUL4B_ENST00000336592.6_Missense_Mutation_p.N544K|CUL4B_ENST00000371322.5_Missense_Mutation_p.N539K	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	557					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						CAGCTGGTTTATTTGGTCTTT	0.308																																						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.(1615-1617)aaT>aaG		cullin 4B							144.0	131.0	135.0					X																	119674244		2202	4298	6500	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119674244A>C	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.1671T>G	X.37:g.119674244A>C	ENSP00000384109:p.Asn557Lys					CUL4B_ENST00000404115.3_Missense_Mutation_p.N557K|CUL4B_ENST00000336592.6_Missense_Mutation_p.N544K	p.N539K	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			11	1678	-			557					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.1617T>G	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.707788	0.30322	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.73363	-0.74;-0.74;-0.74	5.6	2.54	0.30619	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);Cullin homology (1);	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	M	0.83118	2.625	0.58432	D	0.999999	P;D;D	0.89917	0.535;1.0;1.0	B;D;D	0.83275	0.398;0.996;0.993	T	0.82067	-0.0641	9	.	.	.	-17.2501	7.9584	0.30057	0.5235:0.0:0.4765:0.0	.	361;557;539	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	K	539;544;557	ENSP00000360373:N539K;ENSP00000338919:N544K;ENSP00000384109:N557K	.	N	-	3	2	CUL4B	119558272	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	1.401000	0.34589	0.413000	0.25759	-0.509000	0.04479	AAT		0.308	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		44	87	0	0	0	1	0	44	87				
OLFML2B	25903	broad.mit.edu	37	1	161953983	161953983	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:161953983G>A	ENST00000294794.3	-	8	2158	c.1735C>T	c.(1735-1737)Cgc>Tgc	p.R579C	OLFML2B_ENST00000367940.2_Missense_Mutation_p.R580C|OLFML2B_ENST00000367938.1_Missense_Mutation_p.R62C	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	579	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGAAGGCGCGATTGTAGTAG	0.597																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1735-1737)Cgc>Tgc		olfactomedin-like 2B							98.0	80.0	86.0					1																	161953983		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161953983G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1735C>T	1.37:g.161953983G>A	ENSP00000294794:p.Arg579Cys					OLFML2B_ENST00000367938.1_Missense_Mutation_p.R62C|OLFML2B_ENST00000367940.2_Missense_Mutation_p.R580C	p.R579C	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2158	-	all_hematologic(112;0.156)		579			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1735C>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968748	0.74131	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.90004	-2.6;-2.6;-2.6	5.06	5.06	0.68205	Olfactomedin-like (3);	.	.	.	.	D	0.92453	0.7604	M	0.77313	2.365	0.46849	D	0.999222	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.977	D	0.93668	0.6987	8	0.87932	D	0	.	11.0657	0.47974	0.0:0.0:0.8145:0.1855	.	580;579	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	C	579;580;62	ENSP00000294794:R579C;ENSP00000356917:R580C;ENSP00000356915:R62C	ENSP00000294794:R579C	R	-	1	0	OLFML2B	160220607	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.692000	0.84203	2.328000	0.79073	0.561000	0.74099	CGC		0.597	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		60	264	0	0	0	1	0	60	264				
FBN1	2200	broad.mit.edu	37	15	48704920	48704920	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr15:48704920C>T	ENST00000316623.5	-	65	8527	c.8072G>A	c.(8071-8073)gGc>gAc	p.G2691D	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2691					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCGGCCCATGCCCATTCCAGA	0.502																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(8071-8073)gGc>gAc		fibrillin 1							157.0	151.0	153.0					15																	48704920		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48704920C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8072G>A	15.37:g.48704920C>T	ENSP00000325527:p.Gly2691Asp					FBN1_ENST00000561429.1_5'UTR	p.G2691D	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	65	8527	-		all_lung(180;0.00279)	2691					B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.8072G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647484	0.87958	.	.	ENSG00000166147	ENST00000316623	D	0.81821	-1.54	5.38	5.38	0.77491	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.88599	0.6480	M	0.73598	2.24	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	D	0.85789	0.1366	10	0.27785	T	0.31	.	18.926	0.92544	0.0:1.0:0.0:0.0	.	2691	P35555	FBN1_HUMAN	D	2691	ENSP00000325527:G2691D	ENSP00000325527:G2691D	G	-	2	0	FBN1	46492212	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.793000	0.96121	0.655000	0.94253	GGC		0.502	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			6	713	0	0	0	1	0	6	713				
DYNC2H1	79659	broad.mit.edu	37	11	103022865	103022865	+	Splice_Site	SNP	A	A	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:103022865A>T	ENST00000375735.2	+	21	3091	c.2947A>T	c.(2947-2949)Att>Ttt	p.I983F	DYNC2H1_ENST00000398093.3_Splice_Site_p.I983F|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	983	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAACCTTTAGATTTTGCCCTT	0.269																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.e21-1		dynein, cytoplasmic 2, heavy chain 1							35.0	33.0	34.0					11																	103022865		1785	4053	5838	SO:0001630	splice_region_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103022865A>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2947-1A>T	11.37:g.103022865A>T						DYNC2H1_ENST00000398093.3_Splice_Site_p.I983_splice|DYNC2H1_ENST00000334267.7_Intron	p.I983_splice	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	21	3091	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	983			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Splice_Site	SNP	ENST00000375735.2	37	c.2946_splice	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712951	0.48517	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.30981	1.51;1.51	6.05	6.05	0.98169	.	0.322034	0.24488	U	0.038086	T	0.34861	0.0912	M	0.72118	2.19	0.58432	D	0.999999	B;B	0.20368	0.026;0.044	B;B	0.26416	0.021;0.069	T	0.11842	-1.0571	9	.	.	.	.	11.6037	0.51020	0.9313:0.0:0.0687:0.0	.	983;983	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	983	ENSP00000364887:I983F;ENSP00000381167:I983F	.	I	+	1	0	DYNC2H1	102528075	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.242000	0.51384	2.323000	0.78572	0.519000	0.50382	ATT		0.269	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	Missense_Mutation	13	117	0	0	0	1	0	13	117				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																						ENST00000306084.6																			4	Substitution - Missense(4)	p.K140E(2)|p.K73E(2)	urinary_tract(2)|lung(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(418-420)Aaa>Gaa		thioredoxin domain containing 2 (spermatozoa)							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	p.K140E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	617	+			140			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			6	642	0	0	0	1	0	6	642				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C								NR_003714.1						0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	61	0	0	0	1	0	5	61				
UBASH3B	84959	broad.mit.edu	37	11	122667627	122667627	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:122667627A>G	ENST00000284273.5	+	9	1618	c.1243A>G	c.(1243-1245)Ata>Gta	p.I415V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	415	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGGCCGCTACATACGCACCAA	0.473																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(1243-1245)Ata>Gta		ubiquitin associated and SH3 domain containing B							164.0	131.0	143.0					11																	122667627		2202	4299	6501	SO:0001583	missense	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122667627A>G	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1243A>G	11.37:g.122667627A>G	ENSP00000284273:p.Ile415Val						p.I415V	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	9	1618	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	415			Protein tyrosine phosphatase (By similarity).		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	c.1243A>G	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	A	8.583	0.882830	0.17467	.	.	ENSG00000154127	ENST00000284273	T	0.04917	3.53	5.94	3.61	0.41365	Histidine phosphatase superfamily, clade-1 (1);	0.337134	0.34110	N	0.004260	T	0.01835	0.0058	N	0.00677	-1.265	0.31402	N	0.676504	B	0.02656	0.0	B	0.01281	0.0	T	0.33343	-0.9872	10	0.15066	T	0.55	-1.7035	9.0924	0.36619	0.6732:0.0:0.3268:0.0	.	415	Q8TF42	UBS3B_HUMAN	V	415	ENSP00000284273:I415V	ENSP00000284273:I415V	I	+	1	0	UBASH3B	122172837	0.980000	0.34600	0.994000	0.49952	0.906000	0.53458	0.760000	0.26475	0.495000	0.27882	0.528000	0.53228	ATA		0.473	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		16	287	0	0	0	1	0	16	287				
SEMA5A	9037	broad.mit.edu	37	5	9197372	9197372	+	Missense_Mutation	SNP	C	C	T	rs369851619		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:9197372C>T	ENST00000382496.5	-	10	1641	c.976G>A	c.(976-978)Gcc>Acc	p.A326T		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	326	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGCGCGATGGCGCTCAGGTTG	0.597																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(976-978)Gcc>Acc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A		C	THR/ALA	0,4406		0,0,2203	82.0	82.0	82.0		976	4.5	1.0	5		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	SEMA5A	NM_003966.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	326/1075	9197372	1,13005	2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9197372C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.976G>A	5.37:g.9197372C>T	ENSP00000371936:p.Ala326Thr						p.A326T	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			10	1641	-			326			Sema.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.976G>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910739	0.72983	0.0	1.16E-4	ENSG00000112902	ENST00000382496	T	0.22539	1.95	5.35	4.48	0.54585	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.049884	0.85682	N	0.000000	T	0.34978	0.0916	L	0.43701	1.375	0.58432	D	0.999998	D	0.89917	1.0	D	0.73708	0.981	T	0.03017	-1.1082	10	0.34782	T	0.22	.	11.7948	0.52093	0.0:0.9145:0.0:0.0855	.	326	Q13591	SEM5A_HUMAN	T	326	ENSP00000371936:A326T	ENSP00000371936:A326T	A	-	1	0	SEMA5A	9250372	1.000000	0.71417	0.971000	0.41717	0.171000	0.22731	4.769000	0.62300	1.385000	0.46445	0.650000	0.86243	GCC		0.597	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			54	389	0	0	0	1	0	54	389				
RTN4RL1	146760	broad.mit.edu	37	17	1840902	1840902	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:1840902C>T	ENST00000331238.6	-	2	693	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CTGAAGTGGCCGGGCTGGAGG	0.637																																					GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(214-216)Ggc>Agc		reticulon 4 receptor-like 1							63.0	78.0	73.0					17																	1840902		2186	4273	6459	SO:0001583	missense	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840902C>T	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.214G>A	17.37:g.1840902C>T	ENSP00000330631:p.Gly72Ser						p.G72S	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	232	-			72						Missense_Mutation	SNP	ENST00000331238.6	37	c.214G>A	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242161	0.79912	.	.	ENSG00000185924	ENST00000331238	T	0.02323	4.34	5.49	5.49	0.81192	.	0.000000	0.40064	N	0.001187	T	0.10895	0.0266	L	0.53780	1.695	0.80722	D	1	D	0.55605	0.972	P	0.59012	0.85	T	0.03051	-1.1078	10	0.38643	T	0.18	.	19.4381	0.94806	0.0:1.0:0.0:0.0	.	72	Q86UN2	R4RL1_HUMAN	S	72	ENSP00000330631:G72S	ENSP00000330631:G72S	G	-	1	0	RTN4RL1	1787652	1.000000	0.71417	0.998000	0.56505	0.576000	0.36127	7.813000	0.86123	2.606000	0.88127	0.650000	0.86243	GGC		0.637	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		26	137	0	0	0	1	0	26	137				
CATSPER2P1	440278	broad.mit.edu	37	15	44028268	44028268	+	RNA	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr15:44028268C>T	ENST00000381680.2	-	0	1516				RNU6-354P_ENST00000383862.1_RNA	NR_002318.2				cation channel, sperm associated 2 pseudogene 1																		agccaccgcacccggccAATT	0.532																																						ENST00000381680.2																			0																																																			0							g.chr15:44028268C>T	BC066967		15q15.3	2010-07-12			ENSG00000205771	ENSG00000205771			31054	pseudogene	pseudogene							Standard	NR_002318		Approved		uc001zss.3		OTTHUMG00000059938		15.37:g.44028268C>T								NR_002318.2						0	1516	-									RNA	SNP	ENST00000381680.2	37																																																																																						0.532	CATSPER2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000133242.1	NR_002318		74	258	0	0	0	1	0	74	258				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		26	179	0	0	0	1	0	26	179				
GLRA1	2741	broad.mit.edu	37	5	151271898	151271898	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:151271898T>A	ENST00000455880.2	-	2	444	c.158A>T	c.(157-159)gAt>gTt	p.D53V	GLRA1_ENST00000274576.4_Missense_Mutation_p.D53V|GLRA1_ENST00000545569.1_Intron|GLRA1_ENST00000471351.2_5'UTR			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	53					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GATCCTGGCATCATATCCGGA	0.498																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(157-159)gAt>gTt		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						103.0	93.0	97.0					5																	151271898		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151271898T>A		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.158A>T	5.37:g.151271898T>A	ENSP00000411593:p.Asp53Val					GLRA1_ENST00000545569.1_Intron|GLRA1_ENST00000455880.2_Missense_Mutation_p.D53V|GLRA1_ENST00000471351.2_5'UTR	p.D53V	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		2	450	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	53					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.158A>T	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.590090	0.86851	.	.	ENSG00000145888	ENST00000274576;ENST00000455880	T;T	0.81415	-1.49;-1.49	5.48	5.48	0.80851	Neurotransmitter-gated ion-channel ligand-binding (3);	0.116646	0.56097	D	0.000030	D	0.91506	0.7318	M	0.91612	3.225	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.72982	0.979;0.964	D	0.93395	0.6755	10	0.87932	D	0	.	15.5709	0.76337	0.0:0.0:0.0:1.0	.	53;53	P23415;P23415-2	GLRA1_HUMAN;.	V	53	ENSP00000274576:D53V;ENSP00000411593:D53V	ENSP00000274576:D53V	D	-	2	0	GLRA1	151252091	1.000000	0.71417	0.993000	0.49108	0.943000	0.58893	7.516000	0.81772	2.089000	0.63090	0.482000	0.46254	GAT		0.498	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			14	367	0	0	0	1	0	14	367				
CACNA1H	8912	broad.mit.edu	37	16	1256207	1256207	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:1256207C>A	ENST00000348261.5	+	12	2955	c.2707C>A	c.(2707-2709)Cgc>Agc	p.R903S	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R903S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R903S|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	903					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGCCCTGCGGCGCCAGCTCGT	0.632																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(2707-2709)Cgc>Agc		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						30.0	37.0	35.0					16																	1256207		2140	4225	6365	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1256207C>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2707C>A	16.37:g.1256207C>A	ENSP00000334198:p.Arg903Ser					CACNA1H_ENST00000358590.4_Missense_Mutation_p.R903S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R903S	p.R903S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			12	2955	+		Hepatocellular(780;0.00369)	903					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.2707C>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880727	0.72294	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98474	-4.95;-4.95	3.96	3.96	0.45880	Ion transport (1);	0.127635	0.51477	N	0.000098	D	0.98632	0.9542	M	0.71920	2.185	0.35343	D	0.786673	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99970	1.1986	10	0.87932	D	0	.	15.1886	0.73025	0.0:1.0:0.0:0.0	.	903;903	O95180-2;O95180	.;CAC1H_HUMAN	S	903	ENSP00000334198:R903S;ENSP00000351401:R903S	ENSP00000334198:R903S	R	+	1	0	CACNA1H	1196208	0.986000	0.35501	0.999000	0.59377	0.794000	0.44872	2.180000	0.42537	2.050000	0.60909	0.561000	0.74099	CGC		0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		9	39	1	0	1.58986e-06	1	1.64958e-06	9	39				
SMYD4	114826	broad.mit.edu	37	17	1703597	1703597	+	Missense_Mutation	SNP	C	C	T	rs535301214		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:1703597C>T	ENST00000305513.7	-	5	1258	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	364	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TATGATTTTGCGAACATCCTC	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		22688	0.001		0.0	False		,,,				2504	0.0					ENST00000305513.7																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						c.(1090-1092)cGc>cAc		SET and MYND domain containing 4							126.0	119.0	121.0					17																	1703597		2203	4300	6503	SO:0001583	missense	114826						zinc ion binding	g.chr17:1703597C>T	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1091G>A	17.37:g.1703597C>T	ENSP00000304360:p.Arg364His						p.R364H	NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN			5	1258	-			364					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	ENST00000305513.7	37	c.1091G>A	CCDS11013.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304550	0.23736	.	.	ENSG00000186532	ENST00000305513	T	0.10099	2.91	6.17	3.9	0.45041	SET domain (2);	0.633514	0.19290	N	0.117933	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	P	0.40660	0.726	P	0.44860	0.462	T	0.19224	-1.0312	10	0.45353	T	0.12	-4.1382	2.4272	0.04462	0.1423:0.5342:0.1385:0.1849	.	364	Q8IYR2	SMYD4_HUMAN	H	364	ENSP00000304360:R364H	ENSP00000304360:R364H	R	-	2	0	SMYD4	1650347	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.710000	0.25748	0.647000	0.30713	0.655000	0.94253	CGC		0.453	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		6	364	0	0	0	1	0	6	364				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	8	155	0	0	0	1	0	8	155				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	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	139	0	0	0	1	0	4	139				
ZNF724P	440519	broad.mit.edu	37	19	23414139	23414139	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:23414139A>G	ENST00000418100.1	-	3	272	c.155T>C	c.(154-156)cTg>cCg	p.L52P	ZNF724P_ENST00000597037.1_Missense_Mutation_p.L52P			A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(1)|lung(2)|ovary(2)	8						ACAGGTGATCAGGTCTGGCTT	0.403																																						ENST00000418100.1																			0				endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						c.(154-156)cTg>cCg																																						SO:0001583	missense	0							g.chr19:23414139A>G			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.155T>C	19.37:g.23414139A>G	ENSP00000413411:p.Leu52Pro					ZNF724P_ENST00000597037.1_Missense_Mutation_p.L52P	p.L52P							3	272	-									Missense_Mutation	SNP	ENST00000418100.1	37	c.155T>C		.	.	.	.	.	.	.	.	.	.	A	3.623	-0.077122	0.07184	.	.	ENSG00000196081	ENST00000418100	T	0.00976	5.48	0.51	-1.02	0.10135	Krueppel-associated box (3);	.	.	.	.	T	0.00967	0.0032	.	.	.	0.36123	D	0.845614	B	0.23316	0.083	B	0.30105	0.111	T	0.51710	-0.8671	8	0.56958	D	0.05	.	4.2945	0.10895	0.6584:0.3416:0.0:0.0	.	52	A8MTY0	ZN724_HUMAN	P	52	ENSP00000413411:L52P	ENSP00000413411:L52P	L	-	2	0	ZNF724P	23205979	0.001000	0.12720	0.004000	0.12327	0.046000	0.14306	0.034000	0.13776	-0.554000	0.06150	0.260000	0.18958	CTG		0.403	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			6	602	0	0	0	1	0	6	602				
IGHA2	3494	broad.mit.edu	37	14	106054658	106054658	+	RNA	SNP	T	T	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:106054658T>G	ENST00000390539.2	-	0	74				AL928742.2_ENST00000578042.1_RNA|AL928742.1_ENST00000581377.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										GGACCAGGCATGCGACGACCA	0.622																																						ENST00000390539.2																			0																				70.0	78.0	75.0					14																	106054658		2094	4203	6297			0							g.chr14:106054658T>G	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106054658T>G														0	74	-									RNA	SNP	ENST00000390539.2	37																																																																																						0.622	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		6	297	0	0	0	1	0	6	297				
PRR35	146325	broad.mit.edu	37	16	615296	615296	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:615296G>A	ENST00000409413.3	+	3	1984	c.1705G>A	c.(1705-1707)Gcc>Acc	p.A569T	NHLRC4_ENST00000424439.2_5'Flank|NHLRC4_ENST00000540585.1_5'Flank|PIGQ_ENST00000409527.2_5'Flank	NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		569										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCCCAGGGCGCCGAGGTCTG	0.677																																						ENST00000409413.3																			0				central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(1705-1707)Gcc>Acc		chromosome 16 open reading frame 11							6.0	7.0	7.0					16																	615296		1982	4129	6111	SO:0001583	missense	146325							g.chr16:615296G>A																												ENST00000409413.3:c.1705G>A	16.37:g.615296G>A	ENSP00000386499:p.Ala569Thr						p.A569T	NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN			3	1984	+			569					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.1705G>A	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189481	0.38707	.	.	ENSG00000161992	ENST00000409413	.	.	.	5.25	1.61	0.23674	.	1.152320	0.06446	N	0.726940	T	0.23766	0.0575	N	0.20986	0.625	0.09310	N	1	B	0.30021	0.265	B	0.20577	0.03	T	0.26573	-1.0099	9	0.87932	D	0	.	6.6076	0.22734	0.1873:0.0:0.6619:0.1507	.	569	P0CG20	CP011_HUMAN	T	569	.	ENSP00000386499:A569T	A	+	1	0	C16orf11	555297	0.000000	0.05858	0.006000	0.13384	0.021000	0.10359	0.126000	0.15769	0.554000	0.29061	0.491000	0.48974	GCC		0.677	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			11	37	0	0	0	1	0	11	37				
DPYD	1806	broad.mit.edu	37	1	98205957	98205957	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:98205957A>C	ENST00000370192.3	-	4	412	c.312T>G	c.(310-312)atT>atG	p.I104M	DPYD_ENST00000306031.5_Missense_Mutation_p.I104M|DPYD_ENST00000423006.2_Missense_Mutation_p.I67M	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	104					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CCTTGTTTGCAATACTTGTGA	0.343																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(310-312)atT>atG		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						155.0	156.0	156.0					1																	98205957		2203	4299	6502	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98205957A>C	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.312T>G	1.37:g.98205957A>C	ENSP00000359211:p.Ile104Met					DPYD_ENST00000306031.5_Missense_Mutation_p.I104M|DPYD_ENST00000423006.2_Missense_Mutation_p.I67M	p.I104M	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	4	412	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	104					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.312T>G	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679197	0.68042	.	.	ENSG00000188641	ENST00000370192;ENST00000423006;ENST00000306031	T;T;T	0.76186	-1.0;-1.0;-1.0	5.69	-5.09	0.02920	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.000000	0.85682	D	0.000000	D	0.83464	0.5260	H	0.96604	3.85	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.82926	-0.0215	10	0.87932	D	0	-18.9959	7.7046	0.28642	0.5443:0.0:0.3574:0.0983	.	104;104	E9PFN1;Q12882	.;DPYD_HUMAN	M	104;67;104	ENSP00000359211:I104M;ENSP00000398884:I67M;ENSP00000307107:I104M	ENSP00000307107:I104M	I	-	3	3	DPYD	97978545	0.973000	0.33851	0.958000	0.39756	0.987000	0.75469	0.190000	0.17057	-0.884000	0.03976	-0.361000	0.07541	ATT		0.343	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		72	326	0	0	0	1	0	72	326				
NEBL	10529	broad.mit.edu	37	10	21098813	21098813	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:21098813G>A	ENST00000377122.4	-	25	2929	c.2533C>T	c.(2533-2535)Cgc>Tgc	p.R845C	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	845	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.R845C(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGATCTGTGCGCCAAACTTTG	0.383																																						ENST00000377122.4																			1	Substitution - Missense(1)	p.R845C(1)	lung(1)	NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2533-2535)Cgc>Tgc		nebulette							85.0	85.0	85.0					10																	21098813		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21098813G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2533C>T	10.37:g.21098813G>A	ENSP00000366326:p.Arg845Cys					NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	p.R845C	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			25	2929	-			845			Linker.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.2533C>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664498	0.88251	.	.	ENSG00000078114	ENST00000377122	T	0.09538	2.97	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.00069	-1.2136	10	0.62326	D	0.03	.	20.6087	0.99469	0.0:0.0:1.0:0.0	.	845	O76041	NEBL_HUMAN	C	845	ENSP00000366326:R845C	ENSP00000366326:R845C	R	-	1	0	NEBL	21138819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.001000	0.57046	2.866000	0.98385	0.650000	0.86243	CGC		0.383	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		67	219	0	0	0	1	0	67	219				
CGREF1	10669	broad.mit.edu	37	2	27324303	27324303	+	Missense_Mutation	SNP	C	C	T	rs113949888		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:27324303C>T	ENST00000260595.5	-	7	1037	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000402394.1_Missense_Mutation_p.E266K|CGREF1_ENST00000402550.1_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	249				E -> K (in Ref. 1; AAC50896). {ECO:0000305}.	cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTCCTTCAGCCTCTGCC	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		8068	0.001		0.0	False		,,,				2504	0.0					ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(796-798)Gaa>Aaa		cell growth regulator with EF-hand domain 1							56.0	67.0	63.0					2																	27324303		1757	3436	5193	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324303C>T	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.745G>A	2.37:g.27324303C>T	ENSP00000260595:p.Glu249Lys					CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000402550.1_Intron	p.E266K	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	1064	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		258					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.796G>A		.	.	.	.	.	.	.	.	.	.	c	12.37	1.918380	0.33908	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.80909	-1.34;-1.34;-1.34;-1.33;-1.43	4.28	3.36	0.38483	.	0.000000	0.30575	U	0.009325	T	0.77301	0.4110	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.68191	-0.5474	7	0.35671	T	0.21	-16.1548	11.3197	0.49415	0.1819:0.818:0.0:0.0	.	.	.	.	K	266;266;249;266;388;249	ENSP00000385452:E266K;ENSP00000386113:E266K;ENSP00000324025:E266K;ENSP00000385574:E388K;ENSP00000260595:E249K	ENSP00000260595:E249K	E	-	1	0	CGREF1	27177807	0.205000	0.23458	0.055000	0.19348	0.439000	0.31926	2.745000	0.47459	1.969000	0.57287	0.549000	0.68633	GAA		0.687	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		6	705	0	0	0	1	0	6	705				
PRG4	10216	broad.mit.edu	37	1	186277190	186277190	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:186277190G>A	ENST00000445192.2	+	7	2384	c.2339G>A	c.(2338-2340)gGg>gAg	p.G780E	PRG4_ENST00000367485.4_Missense_Mutation_p.G687E|PRG4_ENST00000367486.3_Missense_Mutation_p.G737E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.G739E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	780	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						ACCCCTAAGGGGACTGCTCCA	0.607																																						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.(2338-2340)gGg>gAg		proteoglycan 4							175.0	197.0	190.0					1																	186277190		2203	4299	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277190G>A	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.2339G>A	1.37:g.186277190G>A	ENSP00000399679:p.Gly780Glu					PRG4_ENST00000367483.4_Missense_Mutation_p.G739E|PRG4_ENST00000367486.3_Missense_Mutation_p.G737E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.G687E	p.G780E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2384	+			780			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2339G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	0.878	-0.729726	0.03135	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04706	3.59;3.7;3.57;3.7	0.789	-1.58	0.08479	.	1.018730	0.07906	N	0.973555	T	0.01254	0.0041	N	0.00707	-1.245	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.47923	-0.9079	9	.	.	.	.	2.9532	0.05868	0.6619:0.0:0.3381:0.0	.	646;687;780;739	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	E	737;646;739;687;780	ENSP00000356456:G737E;ENSP00000356453:G739E;ENSP00000356455:G687E;ENSP00000399679:G780E	.	G	+	2	0	PRG4	184543813	0.001000	0.12720	0.004000	0.12327	0.008000	0.06430	-1.632000	0.02024	-0.199000	0.10317	-0.735000	0.03563	GGG		0.607	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	853	0	0	0	1	0	8	853				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		8	203	0	0	0	1	0	8	203				
KCND2	3751	broad.mit.edu	37	7	119914985	119914985	+	Missense_Mutation	SNP	G	G	A	rs377746178		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:119914985G>A	ENST00000331113.4	+	1	1264	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	100					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AATTTCTACCGCACTGGGAAG	0.522																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(298-300)cGc>cAc		potassium voltage-gated channel, Shal-related subfamily, member 2							142.0	143.0	142.0					7																	119914985		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914985G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.299G>A	7.37:g.119914985G>A	ENSP00000333496:p.Arg100His						p.R100H	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1264	+	all_neural(327;0.117)		100					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.299G>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840334	0.91117	.	.	ENSG00000184408	ENST00000331113	T	0.55760	0.5	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.81669	0.4871	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86200	0.1618	9	.	.	.	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	100	Q9NZV8	KCND2_HUMAN	H	100	ENSP00000333496:R100H	.	R	+	2	0	KCND2	119702221	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.062000	0.89475	2.709000	0.92574	0.655000	0.94253	CGC		0.522	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		19	891	0	0	0	1	0	19	891				
CYLD	1540	broad.mit.edu	37	16	50827516	50827516	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:50827516G>A	ENST00000427738.3	+	16	2615	c.2410G>A	c.(2410-2412)Gac>Aac	p.D804N	CYLD_ENST00000566206.1_Missense_Mutation_p.D801N|CYLD_ENST00000540145.1_Missense_Mutation_p.D804N|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000564326.1_Missense_Mutation_p.D801N|CYLD_ENST00000569418.1_Missense_Mutation_p.D801N|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.D804N|CYLD_ENST00000568704.2_Missense_Mutation_p.D619N|CYLD_ENST00000398568.2_Missense_Mutation_p.D801N			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	804	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGAATGCTACGACGATCCGGA	0.438			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(2410-2412)Gac>Aac		cylindromatosis (turban tumor syndrome)							160.0	147.0	151.0					16																	50827516		1900	4129	6029	SO:0001583	missense	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50827516G>A	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2410G>A	16.37:g.50827516G>A	ENSP00000392025:p.Asp804Asn					CYLD_ENST00000568704.2_Missense_Mutation_p.D619N|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000566206.1_Missense_Mutation_p.D801N|CYLD_ENST00000427738.3_Missense_Mutation_p.D804N|CYLD_ENST00000398568.2_Missense_Mutation_p.D801N|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.D804N|CYLD_ENST00000564326.1_Missense_Mutation_p.D801N|CYLD_ENST00000569418.1_Missense_Mutation_p.D801N	p.D804N			Q9NQC7	CYLD_HUMAN			17	2825	+		all_cancers(37;0.0156)	804					O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.2410G>A	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052407	0.75960	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.74002	-0.8;-0.8;-0.8	5.25	5.25	0.73442	.	0.188320	0.56097	D	0.000035	T	0.62183	0.2407	N	0.14661	0.345	0.58432	D	0.999999	P;P	0.45176	0.852;0.821	B;B	0.40165	0.321;0.215	T	0.67011	-0.5778	10	0.45353	T	0.12	-19.1886	19.2041	0.93723	0.0:0.0:1.0:0.0	.	801;801	A8KAB0;Q9NQC7-2	.;.	N	804;804;801;801	ENSP00000445447:D804N;ENSP00000308928:D804N;ENSP00000381574:D801N	ENSP00000308928:D804N	D	+	1	0	CYLD	49385017	1.000000	0.71417	0.273000	0.24645	0.846000	0.48090	7.522000	0.81844	2.620000	0.88729	0.655000	0.94253	GAC		0.438	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			14	618	0	0	0	1	0	14	618				
ETF1	2107	broad.mit.edu	37	5	137844426	137844426	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:137844426G>A	ENST00000360541.5	-	10	1384	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	ETF1_ENST00000503014.1_Missense_Mutation_p.T374M|ETF1_ENST00000499810.2_Missense_Mutation_p.T355M	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	388					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AATTTCCAACGTAGCTCCAAA	0.413																																						ENST00000499810.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1063-1065)aCg>aTg		eukaryotic translation termination factor 1							173.0	178.0	176.0					5																	137844426		2203	4300	6503	SO:0001583	missense	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137844426G>A	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.1163C>T	5.37:g.137844426G>A	ENSP00000353741:p.Thr388Met					ETF1_ENST00000360541.5_Missense_Mutation_p.T388M|ETF1_ENST00000503014.1_Missense_Mutation_p.T374M	p.T355M			P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		10	1512	-			388					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	c.1064C>T	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150639	0.78001	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	.	.	.	6.17	6.17	0.99709	eRF1 domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.83229	0.5209	M	0.88640	2.97	0.80722	D	1	D;P	0.64830	0.994;0.607	P;B	0.57324	0.818;0.087	D	0.83814	0.0243	9	0.51188	T	0.08	-6.0305	20.4745	0.99168	0.0:0.0:1.0:0.0	.	374;388	B7Z7P8;P62495	.;ERF1_HUMAN	M	355;388;374	.	ENSP00000353741:T388M	T	-	2	0	ETF1	137872325	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.857000	0.99534	2.941000	0.99782	0.655000	0.94253	ACG		0.413	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		6	878	0	0	0	1	0	6	878				
OGT	8473	broad.mit.edu	37	X	70757810	70757810	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chrX:70757810G>A	ENST00000373719.3	+	3	567	c.350G>A	c.(349-351)cGt>cAt	p.R117H	OGT_ENST00000498566.1_3'UTR|OGT_ENST00000373701.3_Missense_Mutation_p.R107H	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	117					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.R117H(1)|p.R107H(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATGCATTGCGTCTCAAACCT	0.493																																						ENST00000373719.3																			2	Substitution - Missense(2)	p.R117H(1)|p.R107H(1)	breast(2)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(349-351)cGt>cAt		O-linked N-acetylglucosamine (GlcNAc) transferase							160.0	128.0	139.0					X																	70757810		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70757810G>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.350G>A	X.37:g.70757810G>A	ENSP00000362824:p.Arg117His					OGT_ENST00000373701.3_Missense_Mutation_p.R107H|OGT_ENST00000498566.1_3'UTR	p.R117H	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			3	567	+	Renal(35;0.156)		117					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.350G>A	CCDS14414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.1|20.1	3.937205|3.937205	0.73557|0.73557	.|.	.|.	ENSG00000147162|ENSG00000147162	ENST00000373719;ENST00000373701;ENST00000444774|ENST00000455587	T;T;T|.	0.60920|.	0.15;0.15;0.15|.	4.86|4.86	4.86|4.86	0.63082|0.63082	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.105470|.	0.64402|.	D|.	0.000011|.	T|T	0.73297|0.73297	0.3569|0.3569	M|M	0.66560|0.66560	2.04|2.04	0.80722|0.80722	D|D	1|1	D;D;B|.	0.71674|.	0.998;0.997;0.369|.	D;P;B|.	0.64042|.	0.921;0.832;0.045|.	T|T	0.73275|0.73275	-0.4034|-0.4034	10|5	0.46703|.	T|.	0.11|.	-19.0221|-19.0221	17.2684|17.2684	0.87093|0.87093	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	117;107;117|.	B4DTL6;O15294-3;O15294|.	.;.;OGT1_HUMAN|.	H|I	117;107;100|77	ENSP00000362824:R117H;ENSP00000362805:R107H;ENSP00000399729:R100H|.	ENSP00000362805:R107H|.	R|V	+|+	2|1	0|0	OGT|OGT	70674535|70674535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.502000|9.502000	0.97981|0.97981	2.259000|2.259000	0.74868|0.74868	0.525000|0.525000	0.51046|0.51046	CGT|GTC		0.493	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		75	106	0	0	0	1	0	75	106				
SLC6A15	55117	broad.mit.edu	37	12	85255590	85255590	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:85255590C>T	ENST00000266682.5	-	12	2555	c.2014G>A	c.(2014-2016)Gat>Aat	p.D672N	SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.D565N	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	672					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CTTGTATCATCGCCCTCTAAG	0.423																																						ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2014-2016)Gat>Aat		solute carrier family 6 (neutral amino acid transporter), member 15							127.0	124.0	125.0					12																	85255590		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85255590C>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.2014G>A	12.37:g.85255590C>T	ENSP00000266682:p.Asp672Asn					SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.D565N	p.D672N	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			12	2555	-			672					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.2014G>A	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699502	0.88830	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	T;T	0.77620	-0.93;-1.11	5.85	5.85	0.93711	.	0.182364	0.64402	D	0.000018	D	0.86581	0.5967	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85436	0.1152	10	0.49607	T	0.09	.	20.1649	0.98147	0.0:1.0:0.0:0.0	.	672	Q9H2J7	S6A15_HUMAN	N	672;565;150	ENSP00000266682:D672N;ENSP00000450145:D565N	ENSP00000266682:D672N	D	-	1	0	SLC6A15	83779721	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.665000	0.68052	2.753000	0.94483	0.655000	0.94253	GAT		0.423	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		124	507	0	0	0	1	0	124	507				
GLI2	2736	broad.mit.edu	37	2	121740416	121740416	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:121740416C>T	ENST00000452319.1	+	11	1703	c.1643C>T	c.(1642-1644)tCg>tTg	p.S548L	GLI2_ENST00000314490.11_Missense_Mutation_p.S220L|GLI2_ENST00000361492.4_Missense_Mutation_p.S548L|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCCAACGCCTCGGACCGCGCC	0.637																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1642-1644)tCg>tTg		GLI family zinc finger 2							89.0	77.0	81.0					2																	121740416		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121740416C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1643C>T	2.37:g.121740416C>T	ENSP00000390436:p.Ser548Leu					GLI2_ENST00000314490.11_Missense_Mutation_p.S220L|GLI2_ENST00000361492.4_Missense_Mutation_p.S548L|GLI2_ENST00000435313.2_3'UTR	p.S548L			P10070	GLI2_HUMAN			11	1703	+	Renal(3;0.0496)	Prostate(154;0.0623)	548						Missense_Mutation	SNP	ENST00000452319.1	37	c.1643C>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	33	5.240212	0.95240	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.52526	0.66;0.66;0.66	4.59	4.59	0.56863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.67126	0.2860	M	0.64676	1.99	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.994;0.998;0.999;0.994	T	0.70967	-0.4728	10	0.87932	D	0	.	17.9271	0.88987	0.0:1.0:0.0:0.0	.	548;531;203;203;220	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	L	548;548;220	ENSP00000390436:S548L;ENSP00000354586:S548L;ENSP00000312694:S220L	ENSP00000312694:S220L	S	+	2	0	GLI2	121456886	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	7.599000	0.82757	2.536000	0.85505	0.484000	0.47621	TCG		0.637	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		50	281	0	0	0	1	0	50	281				
KRT38	8687	broad.mit.edu	37	17	39596894	39596894	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:39596894C>T	ENST00000246646.3	-	1	279	c.280G>A	c.(280-282)Gcc>Acc	p.A94T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	94	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TCACCATAGGCCCCACAGATT	0.602																																						ENST00000246646.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(280-282)Gcc>Acc		keratin 38							93.0	84.0	87.0					17																	39596894		2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39596894C>T	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.280G>A	17.37:g.39596894C>T	ENSP00000246646:p.Ala94Thr						p.A94T	NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN			1	279	-		Breast(137;0.000496)	94			Head.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.280G>A	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500176	0.26861	.	.	ENSG00000171360	ENST00000246646	T	0.81330	-1.48	4.89	-9.78	0.00496	.	1.660260	0.03712	N	0.250436	T	0.55986	0.1955	N	0.11064	0.09	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.48139	-0.9061	10	0.26408	T	0.33	.	4.3812	0.11295	0.2664:0.4535:0.1747:0.1055	.	94	O76015	KRT38_HUMAN	T	94	ENSP00000246646:A94T	ENSP00000246646:A94T	A	-	1	0	KRT38	36850420	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-1.774000	0.01784	-2.506000	0.00507	-0.912000	0.02778	GCC		0.602	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		69	312	0	0	0	1	0	69	312				
SSPO	23145	broad.mit.edu	37	7	149513539	149513539	+	RNA	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:149513539G>A	ENST00000378016.2	+	0	11160							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCACGTCACGCAGCAGGTGG	0.692																																						ENST00000378016.2																			0													SCO-spondin							10.0	15.0	13.0					7																	149513539		2025	4138	6163			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149513539G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149513539G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11160	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.692	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	44	0	0	0	1	0	8	44				
OR51I2	390064	broad.mit.edu	37	11	5475027	5475027	+	Silent	SNP	T	T	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:5475027T>A	ENST00000341449.2	+	1	390	c.309T>A	c.(307-309)ctT>ctA	p.L103L	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	103					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(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTTTCTTATTCACTTCT	0.483																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(307-309)ctT>ctA		olfactory receptor, family 51, subfamily I, member 2							132.0	128.0	129.0					11																	5475027		2201	4297	6498	SO:0001819	synonymous_variant	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475027T>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.309T>A	11.37:g.5475027T>A						HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.L103L	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	390	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	103					Q6IF81	Silent	SNP	ENST00000341449.2	37	c.309T>A	CCDS31383.1																																																																																				0.483	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		92	431	0	0	0	1	0	92	431				
TMEM116	89894	broad.mit.edu	37	12	112374530	112374530	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:112374530A>T	ENST00000550831.3	-	7	646	c.278T>A	c.(277-279)cTg>cAg	p.L93Q	TMEM116_ENST00000437003.2_Missense_Mutation_p.L93Q|TMEM116_ENST00000354825.3_Missense_Mutation_p.L93Q|TMEM116_ENST00000549537.2_Intron|TMEM116_ENST00000355445.3_Missense_Mutation_p.L150Q|TMEM116_ENST00000552374.2_Missense_Mutation_p.L185Q	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	93						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						AAAGCTGCCCAGGAAAATGGC	0.478																																						ENST00000354825.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						c.(277-279)cTg>cAg		transmembrane protein 116							139.0	123.0	128.0					12																	112374530		2203	4300	6503	SO:0001583	missense	89894					integral to membrane		g.chr12:112374530A>T	AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.278T>A	12.37:g.112374530A>T	ENSP00000450377:p.Leu93Gln					TMEM116_ENST00000355445.3_Missense_Mutation_p.L150Q|TMEM116_ENST00000437003.2_Missense_Mutation_p.L93Q|TMEM116_ENST00000552374.2_Missense_Mutation_p.L185Q|TMEM116_ENST00000549537.2_Intron|TMEM116_ENST00000550831.3_Missense_Mutation_p.L93Q	p.L93Q			Q8NCL8	TM116_HUMAN			10	933	-			93					G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	c.278T>A	CCDS9157.1	.	.	.	.	.	.	.	.	.	.	a	19.40	3.819870	0.71028	.	.	ENSG00000198270	ENST00000355445;ENST00000354825;ENST00000550831;ENST00000437003;ENST00000552374	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000014	T	0.58921	0.2156	L	0.59436	1.845	0.40890	D	0.98406	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.63501	-0.6623	10	0.87932	D	0	-6.5126	11.3186	0.49407	1.0:0.0:0.0:0.0	.	150;185;93	G5E985;G3V1W7;Q8NCL8	.;.;TM116_HUMAN	Q	150;93;93;93;185	ENSP00000347620:L150Q;ENSP00000346883:L93Q;ENSP00000450377:L93Q;ENSP00000395861:L93Q;ENSP00000447731:L185Q	ENSP00000346883:L93Q	L	-	2	0	TMEM116	110858913	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.791000	0.62460	1.939000	0.56221	0.383000	0.25322	CTG		0.478	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		52	227	0	0	0	1	0	52	227				
OR51I2	390064	broad.mit.edu	37	11	5475025	5475025	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:5475025C>A	ENST00000341449.2	+	1	388	c.307C>A	c.(307-309)Ctt>Att	p.L103I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	103					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(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGATGTTTCTTATTCACTT	0.483																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(307-309)Ctt>Att		olfactory receptor, family 51, subfamily I, member 2							132.0	129.0	130.0					11																	5475025		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475025C>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.307C>A	11.37:g.5475025C>A	ENSP00000341987:p.Leu103Ile					HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.L103I	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	388	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	103					Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.307C>A	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634332	0.47049	.	.	ENSG00000187918	ENST00000341449	T	0.40756	1.02	5.57	0.255	0.15561	GPCR, rhodopsin-like superfamily (1);	0.460534	0.20519	N	0.090739	T	0.22975	0.0555	L	0.28344	0.845	0.25272	N	0.989505	P	0.39665	0.682	B	0.31390	0.129	T	0.13202	-1.0518	10	0.87932	D	0	.	7.8771	0.29599	0.0:0.4244:0.0:0.5756	.	103	Q9H344	O51I2_HUMAN	I	103	ENSP00000341987:L103I	ENSP00000341987:L103I	L	+	1	0	OR51I2	5431601	0.000000	0.05858	0.991000	0.47740	0.981000	0.71138	-0.078000	0.11375	0.162000	0.19483	0.650000	0.86243	CTT		0.483	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		95	425	1	0	1.40862e-40	1	1.53352e-40	95	425				
SARS2	54938	broad.mit.edu	37	19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|MRPS12_ENST00000407800.2_5'Flank|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000448145.2_Intron|MRPS12_ENST00000402029.3_5'Flank|SARS2_ENST00000594171.1_5'Flank	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221431.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(142-144)gCg>gTg		seryl-tRNA synthetase 2, mitochondrial							97.0	84.0	88.0					19																	39421234		2203	4300	6503	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39421234G>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.143C>T	19.37:g.39421234G>A	ENSP00000221431:p.Ala48Val		OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|MRPS12_ENST00000308018.4_5'UTR|CTC-360G5.8_ENST00000599996.1_Intron	p.A48V	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		1	302	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		48					A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	c.143C>T	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512002	0.44660	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.55588	0.51;0.51;1.49	5.65	4.57	0.56435	.	0.122893	0.53938	D	0.000045	T	0.40979	0.1139	L	0.43923	1.385	.	.	.	D;B;B	0.56746	0.977;0.206;0.257	B;B;B	0.43623	0.425;0.014;0.007	T	0.44952	-0.9294	9	0.16896	T	0.51	.	8.6175	0.33840	0.1027:0.0:0.8973:0.0	.	48;48;48	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	V	48	ENSP00000406754:A48V;ENSP00000221431:A48V;ENSP00000414954:A48V	ENSP00000221431:A48V	A	-	2	0	FBXO17	44113074	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	3.764000	0.55264	2.941000	0.99782	0.655000	0.94253	GCG		0.627	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		6	589	0	0	0	1	0	6	589				
EPC2	26122	broad.mit.edu	37	2	149542414	149542414	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:149542414A>G	ENST00000258484.6	+	13	2229	c.2195A>G	c.(2194-2196)cAc>cGc	p.H732R		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	732					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AATGCAGTGCACCTCAATAAT	0.473																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(2194-2196)cAc>cGc		enhancer of polycomb homolog 2 (Drosophila)							124.0	120.0	121.0					2																	149542414		2107	4231	6338	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149542414A>G	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.2195A>G	2.37:g.149542414A>G	ENSP00000258484:p.His732Arg						p.H732R	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	13	2229	+			732					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.2195A>G	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.916638	0.33815	.	.	ENSG00000135999	ENST00000258484	.	.	.	5.93	5.93	0.95920	.	0.105505	0.64402	D	0.000005	T	0.68449	0.3002	L	0.44542	1.39	0.80722	D	1	D	0.54772	0.968	D	0.67900	0.954	T	0.65713	-0.6101	9	0.34782	T	0.22	-2.9627	16.3783	0.83418	1.0:0.0:0.0:0.0	.	732	Q52LR7	EPC2_HUMAN	R	732	.	ENSP00000258484:H732R	H	+	2	0	EPC2	149258884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.746000	0.74866	2.261000	0.74972	0.477000	0.44152	CAC		0.473	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		23	187	0	0	0	1	0	23	187				
RPL28	6158	broad.mit.edu	37	19	55899358	55899358	+	Missense_Mutation	SNP	C	C	T	rs150642428		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:55899358C>T	ENST00000344063.2	+	4	895	c.266C>T	c.(265-267)aCg>aTg	p.T89M	RPL28_ENST00000560055.1_Missense_Mutation_p.T89M|RPL28_ENST00000560583.1_Missense_Mutation_p.T89M|RPL28_ENST00000558815.1_Missense_Mutation_p.T89M|RPL28_ENST00000458349.2_Missense_Mutation_p.T89M|RPL28_ENST00000559463.1_Missense_Mutation_p.T89M|RPL28_ENST00000558131.1_Missense_Mutation_p.R83C			P46779	RL28_HUMAN	ribosomal protein L28	89					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GCTCGCGCCACGCTCAGCAGC	0.622																																						ENST00000344063.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(265-267)aCg>aTg		ribosomal protein L28							95.0	86.0	89.0					19																	55899358		2203	4300	6503	SO:0001583	missense	6158				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:55899358C>T	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.266C>T	19.37:g.55899358C>T	ENSP00000342787:p.Thr89Met					RPL28_ENST00000558815.1_Missense_Mutation_p.T89M|RPL28_ENST00000559463.1_Missense_Mutation_p.T89M|RPL28_ENST00000458349.2_Missense_Mutation_p.T89M|RPL28_ENST00000560055.1_Missense_Mutation_p.T89M|RPL28_ENST00000558131.1_Missense_Mutation_p.R83C|RPL28_ENST00000560583.1_Missense_Mutation_p.T89M	p.T89M			P46779	RL28_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	4	895	+	Breast(117;0.191)	Renal(1328;0.245)	89					B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	c.266C>T	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054549	0.55218	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000458349	T;T	0.44881	0.91;0.91	3.44	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	L	0.53617	1.68	0.58432	D	0.999996	D;D;P	0.65815	0.978;0.995;0.607	P;P;B	0.56042	0.543;0.79;0.427	T	0.54925	-0.8220	10	0.52906	T	0.07	.	13.1887	0.59697	0.0:1.0:0.0:0.0	.	89;89;89	B4DEP9;E9PB24;P46779	.;.;RL28_HUMAN	M	89	ENSP00000342787:T89M;ENSP00000401450:T89M	ENSP00000342787:T89M	T	+	2	0	RPL28	60591170	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.107000	0.77047	1.864000	0.54056	0.462000	0.41574	ACG		0.622	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991		17	379	0	0	0	1	0	17	379				
GBX1	2636	broad.mit.edu	37	7	150845978	150845978	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:150845978G>A	ENST00000297537.4	-	2	789	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	264					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGTGCGGCGCCGTCGGCTT	0.582																																						ENST00000297537.4																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(790-792)Cgc>Tgc		gastrulation brain homeobox 1							69.0	78.0	75.0					7																	150845978		1984	4141	6125	SO:0001583	missense	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150845978G>A	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.790C>T	7.37:g.150845978G>A	ENSP00000297537:p.Arg264Cys						p.R264C	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	789	-			264						Missense_Mutation	SNP	ENST00000297537.4	37	c.790C>T	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618919	0.66787	.	.	ENSG00000164900	ENST00000297537	D	0.96427	-4.01	4.91	4.91	0.64330	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	L	0.42487	1.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96269	0.9197	10	0.59425	D	0.04	-27.2835	11.9878	0.53157	0.0:0.0:0.8268:0.1732	.	264	Q14549	GBX1_HUMAN	C	264	ENSP00000297537:R264C	ENSP00000297537:R264C	R	-	1	0	GBX1	150476911	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	0.712000	0.25779	2.572000	0.86782	0.591000	0.81541	CGC		0.582	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			23	502	0	0	0	1	0	23	502				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	133	0	0	0	1	0	4	133				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		10	252	0	0	0	1	0	10	252				
HNRNPLL	92906	broad.mit.edu	37	2	38812916	38812916	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:38812916G>A	ENST00000449105.3	-	3	755	c.416C>T	c.(415-417)gCt>gTt	p.A139V	HNRNPLL_ENST00000378915.3_Missense_Mutation_p.A139V|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.A134V|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.A139V|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.A139V|HNRNPLL_ENST00000358367.4_Missense_Mutation_p.A139V|HNRNPLL_ENST00000410076.1_Missense_Mutation_p.A134V			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	139	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										CTGTTGACCAGCAATGTACAC	0.418																																						ENST00000449105.2																			0											c.(415-417)gCt>gTt		heterogeneous nuclear ribonucleoprotein L-like							177.0	162.0	167.0					2																	38812916		2203	4300	6503	SO:0001583	missense	92906							g.chr2:38812916G>A	BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"""RNA binding motif (RRM) containing"""	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.416C>T	2.37:g.38812916G>A	ENSP00000390625:p.Ala139Val					HNRNPLL_ENST00000409328.1_Missense_Mutation_p.A139V|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.A134V|HNRNPLL_ENST00000410076.1_Missense_Mutation_p.A134V|HNRNPLL_ENST00000358367.4_Missense_Mutation_p.A139V|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.A139V	p.A139V	NM_138394.3	NP_612403.2					3	755	-								Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	ENST00000449105.3	37	c.416C>T		.	.	.	.	.	.	.	.	.	.	G	25.7	4.660497	0.88154	.	.	ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328;ENST00000358367;ENST00000410076;ENST00000425682	.	.	.	5.75	4.87	0.63330	.	0.061993	0.64402	N	0.000004	T	0.68641	0.3023	M	0.80183	2.485	0.44843	D	0.997856	B;B	0.20261	0.043;0.01	B;B	0.20955	0.032;0.032	T	0.66264	-0.5967	9	0.33940	T	0.23	.	14.8793	0.70519	0.0686:0.0:0.9314:0.0	.	134;139	C9J9G0;D6W592	.;.	V	139;134;139;139;139;134;78	.	ENSP00000351136:A139V	A	-	2	0	HNRPLL	38666420	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.744000	0.85034	1.445000	0.47624	0.655000	0.94253	GCT		0.418	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		22	660	0	0	0	1	0	22	660				
TBC1D23	55773	broad.mit.edu	37	3	100016873	100016873	+	Missense_Mutation	SNP	C	C	T	rs372446939		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:100016873C>T	ENST00000394144.4	+	9	990	c.983C>T	c.(982-984)gCg>gTg	p.A328V	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.A328V|TBC1D23_ENST00000475134.1_Missense_Mutation_p.A191V	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	328					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						ATCCTTCAAGCGAATCAGCTA	0.443																																						ENST00000394144.4																			0				breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(982-984)gCg>gTg		TBC1 domain family, member 23		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	75.0	68.0	71.0		983,983	5.8	1.0	3		71	0,8600		0,0,4300	no	missense,missense	TBC1D23	NM_001199198.1,NM_018309.3	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	328/700,328/685	100016873	1,13005	2203	4300	6503	SO:0001583	missense	55773					intracellular	Rab GTPase activator activity	g.chr3:100016873C>T	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.983C>T	3.37:g.100016873C>T	ENSP00000377700:p.Ala328Val					TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.A191V|TBC1D23_ENST00000344949.5_Missense_Mutation_p.A328V	p.A328V	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN			9	990	+			328					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	c.983C>T	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350043	0.95830	2.27E-4	0.0	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	T;T;T	0.32988	1.43;1.43;1.43	5.76	5.76	0.90799	Rhodanese-like (2);	0.000000	0.85682	D	0.000000	T	0.41282	0.1152	N	0.22421	0.69	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.62885	0.908;0.851	T	0.09058	-1.0692	9	.	.	.	.	19.9533	0.97211	0.0:1.0:0.0:0.0	.	328;328	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	V	328;328;191	ENSP00000340693:A328V;ENSP00000377700:A328V;ENSP00000418059:A191V	.	A	+	2	0	TBC1D23	101499563	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.086000	0.76885	2.725000	0.93324	0.585000	0.79938	GCG		0.443	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		8	181	0	0	0	1	0	8	181				
CHD6	84181	broad.mit.edu	37	20	40085993	40085993	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:40085993C>T	ENST00000373233.3	-	18	2917	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	914	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ATCTCGCGCTCGTAGGAATTT	0.542																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(2740-2742)Gag>Aag		chromodomain helicase DNA binding protein 6							138.0	107.0	117.0					20																	40085993		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40085993C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2740G>A	20.37:g.40085993C>T	ENSP00000362330:p.Glu914Lys					CHD6_ENST00000309279.7_Intron	p.E914K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			18	2917	-		Myeloproliferative disorder(115;0.00425)	914			Helicase C-terminal.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.2740G>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210518	0.95069	.	.	ENSG00000124177	ENST00000373233	D	0.85088	-1.94	5.42	5.42	0.78866	Helicase, C-terminal (1);	0.000000	0.56097	D	0.000021	D	0.95449	0.8522	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96602	0.9445	10	0.87932	D	0	-28.0288	19.5951	0.95533	0.0:1.0:0.0:0.0	.	914	Q8TD26	CHD6_HUMAN	K	914	ENSP00000362330:E914K	ENSP00000362330:E914K	E	-	1	0	CHD6	39519407	1.000000	0.71417	0.998000	0.56505	0.479000	0.33129	7.729000	0.84864	2.705000	0.92388	0.591000	0.81541	GAG		0.542	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			57	230	0	0	0	1	0	57	230				
APC	324	broad.mit.edu	37	5	112176765	112176765	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:112176765A>G	ENST00000457016.1	+	16	5854	c.5474A>G	c.(5473-5475)gAt>gGt	p.D1825G	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.D1825G|APC_ENST00000508376.2_Missense_Mutation_p.D1825G			P25054	APC_HUMAN	adenomatous polyposis coli	1825	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTCTTCAATGATAAGCTCCCA	0.333		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(5473-5475)gAt>gGt		adenomatous polyposis coli							74.0	70.0	71.0					5																	112176765		2201	4300	6501	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112176765A>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5474A>G	5.37:g.112176765A>G	ENSP00000413133:p.Asp1825Gly	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.D1825G|APC_ENST00000508376.2_Missense_Mutation_p.D1825G|CTC-554D6.1_ENST00000520401.1_Intron	p.D1825G			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5854	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1825			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.5474A>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683218	0.29872	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90197	-2.63;-2.63;-2.63	6.07	6.07	0.98685	.	0.322819	0.37955	N	0.001867	D	0.84822	0.5557	L	0.27053	0.805	0.39105	D	0.961357	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.80569	-0.1324	9	.	.	.	-12.6701	16.6277	0.84984	1.0:0.0:0.0:0.0	.	1827;1825	Q4LE70;P25054	.;APC_HUMAN	G	1825	ENSP00000413133:D1825G;ENSP00000257430:D1825G;ENSP00000427089:D1825G	.	D	+	2	0	APC	112204664	1.000000	0.71417	0.582000	0.28627	0.778000	0.44026	7.395000	0.79876	2.330000	0.79161	0.528000	0.53228	GAT		0.333	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		49	203	0	0	0	1	0	49	203				
OR8J3	81168	broad.mit.edu	37	11	55905125	55905125	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:55905125G>T	ENST00000301529.1	-	1	69	c.70C>A	c.(70-72)Cag>Aag	p.Q24K		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGGGGAATCTGGAGCTCTGGA	0.488																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(70-72)Cag>Aag		olfactory receptor, family 8, subfamily J, member 3							117.0	117.0	117.0					11																	55905125		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55905125G>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.70C>A	11.37:g.55905125G>T	ENSP00000301529:p.Gln24Lys						p.Q24K	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	69	-	Esophageal squamous(21;0.00693)		24					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.70C>A	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887120	0.52014	.	.	ENSG00000167822	ENST00000301529	T	0.00591	6.35	3.26	3.26	0.37387	.	0.000000	0.64402	D	0.000017	T	0.00998	0.0033	L	0.51422	1.61	0.21782	N	0.999543	P	0.47350	0.894	P	0.49853	0.624	T	0.51834	-0.8655	10	0.48119	T	0.1	.	8.7991	0.34898	0.0:0.1604:0.6748:0.1647	.	24	Q8NGG0	OR8J3_HUMAN	K	24	ENSP00000301529:Q24K	ENSP00000301529:Q24K	Q	-	1	0	OR8J3	55661701	0.879000	0.30193	0.274000	0.24659	0.245000	0.25701	1.766000	0.38491	1.548000	0.49413	0.289000	0.19496	CAG		0.488	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		110	437	1	0	8.98033e-41	1	9.82502e-41	110	437				
KLHL40	131377	broad.mit.edu	37	3	42727555	42727555	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:42727555G>A	ENST00000287777.4	+	1	545	c.445G>A	c.(445-447)Gcc>Acc	p.A149T		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	149	BACK.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CGCGCGTCTCGCCGTGGCTGC	0.647																																						ENST00000287777.4																			0											c.(445-447)Gcc>Acc		kelch-like family member 40							70.0	72.0	71.0					3																	42727555		2203	4299	6502	SO:0001583	missense	131377							g.chr3:42727555G>A	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.445G>A	3.37:g.42727555G>A	ENSP00000287777:p.Ala149Thr						p.A149T	NM_152393.2	NP_689606.2					1	545	+								Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.445G>A	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433683	0.83776	.	.	ENSG00000157119	ENST00000287777	T	0.69040	-0.37	4.56	4.56	0.56223	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	M	0.66506	2.035	0.58432	D	0.999999	P	0.34662	0.462	B	0.37650	0.255	T	0.73263	-0.4038	10	0.56958	D	0.05	.	17.5196	0.87783	0.0:0.0:1.0:0.0	.	149	Q2TBA0	KBTB5_HUMAN	T	149	ENSP00000287777:A149T	ENSP00000287777:A149T	A	+	1	0	KBTBD5	42702559	1.000000	0.71417	0.926000	0.36857	0.990000	0.78478	7.654000	0.83653	2.391000	0.81399	0.655000	0.94253	GCC		0.647	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		134	174	0	0	0	1	0	134	174				
SV2A	9900	broad.mit.edu	37	1	149877463	149877463	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:149877463A>C	ENST00000369146.3	-	12	2504	c.2014T>G	c.(2014-2016)Ttg>Gtg	p.L672V	SV2A_ENST00000369145.1_Missense_Mutation_p.L672V	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	672					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCAACAGTCAACACGTCCAGC	0.557																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(2014-2016)Ttg>Gtg		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						204.0	186.0	192.0					1																	149877463		2203	4300	6503	SO:0001583	missense	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149877463A>C	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.2014T>G	1.37:g.149877463A>C	ENSP00000358142:p.Leu672Val					SV2A_ENST00000369145.1_Missense_Mutation_p.L672V	p.L672V	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		12	2504	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		672					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.2014T>G	CCDS940.1	.	.	.	.	.	.	.	.	.	.	A	2.739	-0.262762	0.05754	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.06371	3.31;3.31	3.89	-0.377	0.12501	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.982908	0.08311	N	0.965306	T	0.00695	0.0023	N	0.02865	-0.47	0.48632	D	0.999689	B;B	0.16802	0.019;0.005	B;B	0.21360	0.034;0.023	T	0.48768	-0.9006	10	0.02654	T	1	-9.4314	8.0509	0.30577	0.3216:0.0:0.6784:0.0	.	124;672	B4E000;Q7L0J3	.;SV2A_HUMAN	V	672	ENSP00000358142:L672V;ENSP00000358141:L672V	ENSP00000358141:L672V	L	-	1	2	SV2A	148144087	0.954000	0.32549	0.999000	0.59377	0.960000	0.62799	0.088000	0.14979	0.030000	0.15379	0.247000	0.18012	TTG		0.557	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			11	877	0	0	0	1	0	11	877				
RSRC2	65117	broad.mit.edu	37	12	123005948	123005948	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:123005948C>T	ENST00000331738.7	-	3	336	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	RSRC2_ENST00000354654.2_Missense_Mutation_p.G9R	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	64	Ser-rich.						poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GCTTCTGCTCCGGCTCCTGTG	0.308																																						ENST00000331738.7																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24						c.(190-192)cGg>cAg		arginine/serine-rich coiled-coil 2							89.0	85.0	86.0					12																	123005948		2202	4299	6501	SO:0001583	missense	65117							g.chr12:123005948C>T	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.191G>A	12.37:g.123005948C>T	ENSP00000330188:p.Arg64Gln					RSRC2_ENST00000354654.2_Missense_Mutation_p.G9R	p.R64Q	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	3	336	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		64			Ser-rich.		Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	c.191G>A	CCDS31920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.99|14.99	2.700233|2.700233	0.48307|0.48307	.|.	.|.	ENSG00000111011|ENSG00000111011	ENST00000354654;ENST00000528279|ENST00000331738;ENST00000418773	T|T	0.46063|0.20332	0.88|2.08	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.220291	.|0.47852	.|D	.|0.000206	T|T	0.16599|0.16599	0.0399|0.0399	N|N	0.19112|0.19112	0.55|0.55	0.26343|0.26343	N|N	0.977338|0.977338	P|D;D	0.41673|0.56521	0.759|0.976;0.976	B|B;B	0.30495|0.40825	0.116|0.341;0.341	T|T	0.07520|0.07520	-1.0768|-1.0768	9|10	0.41790|0.39692	T|T	0.15|0.17	.|.	19.2639|19.2639	0.93979|0.93979	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	9|64;64	Q7L4I2-2|F5GXM2;Q7L4I2	.|.;RSRC2_HUMAN	R|Q	9|64	ENSP00000346678:G9R|ENSP00000330188:R64Q	ENSP00000346678:G9R|ENSP00000330188:R64Q	G|R	-|-	1|2	0|0	RSRC2|RSRC2	121571901|121571901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.313000|5.313000	0.65798|0.65798	2.541000|2.541000	0.85698|0.85698	0.555000|0.555000	0.69702|0.69702	GGA|CGG		0.308	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		4	253	0	0	0	1	0	4	253				
OPRD1	4985	broad.mit.edu	37	1	29189523	29189523	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:29189523G>A	ENST00000234961.2	+	3	1089	c.847G>A	c.(847-849)Gtc>Atc	p.V283I		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	283					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CTTCGTCATCGTCTGGACGCT	0.662																																						ENST00000234961.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(847-849)Gtc>Atc		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						30.0	25.0	27.0					1																	29189523		2201	4298	6499	SO:0001583	missense	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29189523G>A	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.847G>A	1.37:g.29189523G>A	ENSP00000234961:p.Val283Ile						p.V283I	NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	3	1089	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	283					B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	c.847G>A	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029141	0.54790	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.37235	1.21	4.06	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.149246	0.44688	D	0.000439	T	0.28499	0.0705	N	0.25992	0.78	0.80722	D	1	B	0.24768	0.111	B	0.32805	0.153	T	0.07673	-1.0760	10	0.23891	T	0.37	.	13.7884	0.63123	0.0:0.0:1.0:0.0	.	283	P41143	OPRD_HUMAN	I	283;235	ENSP00000234961:V283I	ENSP00000234961:V283I	V	+	1	0	OPRD1	29062110	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.554000	0.73923	2.097000	0.63578	0.462000	0.41574	GTC		0.662	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		4	66	0	0	0	1	0	4	66				
PRB4	5545	broad.mit.edu	37	12	11461676	11461676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:11461676G>A	ENST00000535904.1	-	3	274	c.241C>T	c.(241-243)Cga>Tga	p.R81*	PRB4_ENST00000279575.1_Nonsense_Mutation_p.R81*|PRB4_ENST00000445719.2_Nonsense_Mutation_p.R81*			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	102	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGTGGGGGTCGTCCTTCTGGC	0.617										HNSCC(22;0.051)																												ENST00000279575.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(241-243)Cga>Tga		proline-rich protein BstNI subfamily 4							304.0	334.0	324.0					12																	11461676		2203	4300	6503	SO:0001587	stop_gained	5545					extracellular region		g.chr12:11461676G>A		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.241C>T	12.37:g.11461676G>A	ENSP00000442834:p.Arg81*	HNSCC(22;0.051)				PRB4_ENST00000535904.1_Nonsense_Mutation_p.R81*|PRB4_ENST00000445719.2_Nonsense_Mutation_p.R81*	p.R81*	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			3	274	-			81	Missing (in Ref. 7; CAA30542).		9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Nonsense_Mutation	SNP	ENST00000535904.1	37	c.241C>T	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	11.73	1.724442	0.30593	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	.	.	.	0.805	0.805	0.18703	.	.	.	.	.	.	.	.	.	.	.	0.47374	A	0.999409	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	4.9008	0.13773	0.0:0.0:1.0:0.0	.	.	.	.	X	81	.	ENSP00000279575:R81X	R	-	1	2	PRB4	11352943	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.109000	0.10840	0.698000	0.31739	0.205000	0.17691	CGA		0.617	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		8	1375	0	0	0	1	0	8	1375				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			9	706	0	0	0	1	0	9	706				
TANC1	85461	broad.mit.edu	37	2	160087288	160087288	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:160087288C>T	ENST00000263635.6	+	27	5588	c.5351C>T	c.(5350-5352)aCc>aTc	p.T1784I	TANC1_ENST00000454300.1_Missense_Mutation_p.T1678I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1784					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAAGCCAAAACCTGTTCTGTT	0.498																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(5350-5352)aCc>aTc		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							108.0	109.0	109.0					2																	160087288		1957	4157	6114	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160087288C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.5351C>T	2.37:g.160087288C>T	ENSP00000263635:p.Thr1784Ile					TANC1_ENST00000454300.1_Missense_Mutation_p.T1678I	p.T1784I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			27	5588	+			1784					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.5351C>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	9.077	0.998461	0.19121	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.69685	-0.42;-0.42	5.96	4.9	0.64082	.	0.635444	0.17407	N	0.175331	T	0.50939	0.1645	N	0.22421	0.69	0.18873	N	0.999989	B	0.15473	0.013	B	0.16289	0.015	T	0.24261	-1.0165	9	.	.	.	.	12.4187	0.55508	0.0:0.8581:0.0:0.1419	.	1784	Q9C0D5	TANC1_HUMAN	I	1678;1784	ENSP00000396339:T1678I;ENSP00000263635:T1784I	.	T	+	2	0	TANC1	159795534	0.992000	0.36948	0.283000	0.24790	0.386000	0.30323	0.906000	0.28517	2.823000	0.97156	0.655000	0.94253	ACC		0.498	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			40	138	0	0	0	1	0	40	138				
C19orf57	79173	broad.mit.edu	37	19	14006194	14006194	+	Missense_Mutation	SNP	G	G	A	rs145142690		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:14006194G>A	ENST00000586783.1	-	2	196	c.197C>T	c.(196-198)gCc>gTc	p.A66V	C19orf57_ENST00000346736.2_Missense_Mutation_p.A66V|C19orf57_ENST00000591586.1_Missense_Mutation_p.A66V|C19orf57_ENST00000454313.1_Missense_Mutation_p.A66V			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	66					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCTGGAGACGGCCTTTCCTGG	0.562																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(196-198)gCc>gTc		chromosome 19 open reading frame 57		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	165.0	144.0	151.0		197	-0.7	0.0	19	dbSNP_134	151	0,8600		0,0,4300	no	missense	C19orf57	NM_024323.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	66/638	14006194	1,13005	2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14006194G>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.197C>T	19.37:g.14006194G>A	ENSP00000465822:p.Ala66Val					C19orf57_ENST00000586783.1_Missense_Mutation_p.A66V|C19orf57_ENST00000346736.2_Missense_Mutation_p.A66V|C19orf57_ENST00000591586.1_Missense_Mutation_p.A66V	p.A66V			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		3	255	-			66					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.197C>T		.	.	.	.	.	.	.	.	.	.	G	5.727	0.318640	0.10845	2.27E-4	0.0	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.35605	1.3;1.3	4.03	-0.708	0.11241	.	0.461071	0.16102	N	0.229524	T	0.15825	0.0381	N	0.12746	0.255	0.09310	N	1	B	0.16603	0.018	B	0.17433	0.018	T	0.12243	-1.0555	10	0.38643	T	0.18	-3.5745	3.3117	0.07018	0.2027:0.0:0.4413:0.356	.	66	Q0VDD7-2	.	V	66	ENSP00000404382:A66V;ENSP00000254336:A66V	ENSP00000254336:A66V	A	-	2	0	C19orf57	13867194	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.281000	0.08456	-0.011000	0.14247	-0.137000	0.14449	GCC		0.562	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		76	404	0	0	0	1	0	76	404				
OR4M1	441670	broad.mit.edu	37	14	20248817	20248817	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:20248817G>A	ENST00000315957.4	+	1	417	c.336G>A	c.(334-336)atG>atA	p.M112I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCGGAGATGTTCTTGCTCA	0.478																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(334-336)atG>atA		olfactory receptor, family 4, subfamily M, member 1							240.0	252.0	248.0					14																	20248817		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248817G>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.336G>A	14.37:g.20248817G>A	ENSP00000319654:p.Met112Ile						p.M112I	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	417	+	all_cancers(95;0.00108)		112					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.336G>A	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	1.041	-0.678902	0.03378	.	.	ENSG00000176299	ENST00000315957	T	0.00388	7.59	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.00210	0.0006	L	0.31207	0.915	0.27921	N	0.938258	B	0.30439	0.279	B	0.27608	0.081	T	0.41945	-0.9480	10	0.05959	T	0.93	-21.4932	14.6986	0.69139	0.0:0.0:1.0:0.0	.	112	Q8NGD0	OR4M1_HUMAN	I	112	ENSP00000319654:M112I	ENSP00000319654:M112I	M	+	3	0	OR4M1	19318657	0.000000	0.05858	1.000000	0.80357	0.945000	0.59286	-0.007000	0.12810	2.407000	0.81776	0.506000	0.49869	ATG		0.478	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			129	1889	0	0	0	1	0	129	1889				
BMX	660	broad.mit.edu	37	X	15526493	15526493	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chrX:15526493T>C	ENST00000357607.2	+	2	205	c.17T>C	c.(16-18)aTt>aCt	p.I6T	BMX_ENST00000342014.6_Missense_Mutation_p.I6T|BMX_ENST00000463891.1_Intron|BMX_ENST00000348343.6_Missense_Mutation_p.I6T			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	6	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					ACAAAATCTATTCTAGAAGAA	0.294																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(16-18)aTt>aCt		BMX non-receptor tyrosine kinase							30.0	31.0	31.0					X																	15526493		2199	4278	6477	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15526493T>C	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.17T>C	X.37:g.15526493T>C	ENSP00000350224:p.Ile6Thr					BMX_ENST00000463891.1_Intron|BMX_ENST00000342014.6_Missense_Mutation_p.I6T|BMX_ENST00000348343.6_Missense_Mutation_p.I6T	p.I6T			P51813	BMX_HUMAN			2	205	+	Hepatocellular(33;0.183)		6			PH.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.17T>C	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735041	0.69189	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.94232	-3.38;-3.38;-3.38	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.097450	0.44483	D	0.000449	D	0.95169	0.8434	M	0.79926	2.475	0.37061	D	0.89808	P	0.50819	0.939	P	0.53988	0.739	D	0.96917	0.9671	10	0.87932	D	0	.	11.1504	0.48455	0.0:0.0:0.0:1.0	.	6	P51813	BMX_HUMAN	T	6	ENSP00000350224:I6T;ENSP00000308774:I6T;ENSP00000340082:I6T	ENSP00000340082:I6T	I	+	2	0	BMX	15436414	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.182000	0.65059	1.904000	0.55121	0.486000	0.48141	ATT		0.294	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		6	236	0	0	0	1	0	6	236				
ALOX15	246	broad.mit.edu	37	17	4544868	4544868	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:4544868C>G	ENST00000570836.1	-	2	175	c.79G>C	c.(79-81)Gtc>Ctc	p.V27L	ALOX15_ENST00000574640.1_Missense_Mutation_p.V27L|ALOX15_ENST00000545513.1_Missense_Mutation_p.V49L|ALOX15_ENST00000293761.3_Missense_Mutation_p.V27L			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	27	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		TGCTGGCCGACCAGCCACAGC	0.687																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(79-81)Gtc>Ctc		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						29.0	28.0	28.0					17																	4544868		2198	4295	6493	SO:0001583	missense	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4544868C>G	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.79G>C	17.37:g.4544868C>G	ENSP00000458832:p.Val27Leu					ALOX15_ENST00000293761.3_Missense_Mutation_p.V27L|ALOX15_ENST00000545513.1_Missense_Mutation_p.V49L|ALOX15_ENST00000574640.1_Missense_Mutation_p.V27L	p.V27L			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	2	175	-			27			PLAT.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	c.79G>C	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698666	0.68501	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.65549	-0.16;-0.16	5.33	3.31	0.37934	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.294429	0.26891	N	0.021975	T	0.68979	0.3060	M	0.88906	2.99	0.27340	N	0.956541	B;B;B	0.31859	0.106;0.343;0.129	B;B;B	0.38712	0.169;0.125;0.28	T	0.65940	-0.6046	10	0.66056	D	0.02	-16.6582	9.0593	0.36425	0.0:0.8459:0.0:0.1541	.	49;27;27	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	L	27;49	ENSP00000293761:V27L;ENSP00000439855:V49L	ENSP00000293761:V27L	V	-	1	0	ALOX15	4491617	1.000000	0.71417	0.921000	0.36526	0.960000	0.62799	2.813000	0.48002	0.607000	0.29982	0.655000	0.94253	GTC		0.687	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			36	152	0	0	0	1	0	36	152				
RNF207	388591	broad.mit.edu	37	1	6279452	6279452	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:6279452G>A	ENST00000377939.4	+	18	2017	c.1890G>A	c.(1888-1890)agG>agA	p.R630R	ICMT_ENST00000495791.1_5'Flank|RNF207_ENST00000377948.2_3'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	630						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCACATGGAGGGAACACCCGA	0.532																																						ENST00000377939.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16						c.(1888-1890)agG>agA		ring finger protein 207							39.0	41.0	40.0					1																	6279452		1900	4114	6014	SO:0001819	synonymous_variant	388591					intracellular	zinc ion binding	g.chr1:6279452G>A	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.1890G>A	1.37:g.6279452G>A						RNF207_ENST00000377948.2_3'UTR	p.R630R	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	18	2017	+	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	630					A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Silent	SNP	ENST00000377939.4	37	c.1890G>A	CCDS59.2																																																																																				0.532	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		29	98	0	0	0	1	0	29	98				
TOP2A	7153	broad.mit.edu	37	17	38564781	38564781	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:38564781G>C	ENST00000423485.1	-	11	1463	c.1305C>G	c.(1303-1305)atC>atG	p.I435M		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	435					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GAATTCCCTTGATTCTATTAT	0.338																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1303-1305)atC>atG		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						136.0	121.0	126.0					17																	38564781		1847	4102	5949	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38564781G>C		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1305C>G	17.37:g.38564781G>C	ENSP00000411532:p.Ile435Met						p.I435M	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		11	1463	-		Breast(137;0.00328)	435					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.1305C>G	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632601	0.67015	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.25250	1.81	5.5	4.51	0.55191	DNA topoisomerase, type IIA, subunit B/N-terminal, alpha-beta (1);DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	M	0.73372	2.23	0.58432	D	0.999992	P	0.50443	0.935	P	0.54460	0.753	T	0.14227	-1.0480	10	0.35671	T	0.21	.	8.5579	0.33492	0.232:0.0:0.7679:0.0	.	435	P11388	TOP2A_HUMAN	M	435;515;458;471	ENSP00000411532:I435M	ENSP00000269577:I515M	I	-	3	3	TOP2A	35818307	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.709000	0.54853	1.277000	0.44412	0.591000	0.81541	ATC		0.338	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			9	249	0	0	0	1	0	9	249				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T	rs184555335	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413													.|||	2313	0.461861	0.4849	0.4121	5008	,	,		9054	0.4554		0.4632	False		,,,				2504	0.4714					ENST00000414190.2																			0																																																			0							g.chr15:85053142C>T																													15.37:g.85053142C>T								NR_003246.2						0	310	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.413	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			22	49	0	0	0	1	0	22	49				
SEMG1	6406	broad.mit.edu	37	20	43836817	43836817	+	Silent	SNP	A	A	G	rs17850164		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:43836817A>G	ENST00000372781.3	+	2	936	c.879A>G	c.(877-879)acA>acG	p.T293T	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	293	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.T293T(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTTCAAGTACAGAAGAAAGAC	0.383																																						ENST00000372781.3																			2	Substitution - coding silent(2)	p.T293T(2)	lung(1)|kidney(1)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(877-879)acA>acG		semenogelin I							67.0	64.0	65.0					20																	43836817		2203	4300	6503	SO:0001819	synonymous_variant	6406							g.chr20:43836817A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.879A>G	20.37:g.43836817A>G						SEMG1_ENST00000244069.6_Intron	p.T293T	NM_003007.3	NP_002998.1					2	936	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	c.879A>G	CCDS13345.1																																																																																				0.383	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		7	303	0	0	0	1	0	7	303				
TPM3P9	147804	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:53945909T>C	ENST00000424846.3	+	0	906				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		ACCCTGACTCTGCCTGAGGCC	0.562													N|||	2656	0.530351	0.5348	0.5533	5008	,	,		11317	0.2728		0.6402	False		,,,				2504	0.6605					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53945909T>C			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945909T>C						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.562	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		5	190	0	0	0	1	0	5	190				
TMPRSS11D	9407	broad.mit.edu	37	4	68699089	68699089	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr4:68699089G>A	ENST00000283916.6	-	7	623	c.525C>T	c.(523-525)gcC>gcT	p.A175A	TMPRSS11D_ENST00000545541.1_Silent_p.A58A|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	175					proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTCTGGACCGGCCCCACATT	0.463																																						ENST00000283916.6																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(523-525)gcC>gcT		transmembrane protease, serine 11D							111.0	105.0	107.0					4																	68699089		2203	4300	6503	SO:0001819	synonymous_variant	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68699089G>A	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.525C>T	4.37:g.68699089G>A						TMPRSS11D_ENST00000545541.1_Silent_p.A58A|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR	p.A175A	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			7	623	-			175					Q08AF6	Silent	SNP	ENST00000283916.6	37	c.525C>T	CCDS3518.1																																																																																				0.463	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		22	694	0	0	0	1	0	22	694				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_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	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		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.chr17:7578406C>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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	p.R175H	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)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	237	0	0	0	1	0	13	237				
MAP2K3	5606	broad.mit.edu	37	17	21208417	21208417	+	Missense_Mutation	SNP	G	G	A	rs150613942	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:21208417G>A	ENST00000342679.4	+	9	1000	c.751G>A	c.(751-753)Gtc>Atc	p.V251I	MAP2K3_ENST00000361818.5_Missense_Mutation_p.V222I|MAP2K3_ENST00000316920.6_Missense_Mutation_p.V222I	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.V255I(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CAAGTCCGACGTCTGGAGCCT	0.637																																						ENST00000342679.4																			1	Substitution - Missense(1)	p.V255I(1)	large_intestine(1)								c.(751-753)Gtc>Atc		mitogen-activated protein kinase kinase 3		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	159.0	134.0	143.0		664,751	5.1	1.0	17	dbSNP_134	143	12,8588	5.7+/-21.5	0,12,4288	yes	missense,missense	MAP2K3	NM_002756.4,NM_145109.2	29,29	0,13,6490	AA,AG,GG		0.1395,0.0227,0.1	benign,benign	222/319,251/348	21208417	13,12993	2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21208417G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.751G>A	17.37:g.21208417G>A	ENSP00000345083:p.Val251Ile					MAP2K3_ENST00000361818.5_Missense_Mutation_p.V222I|MAP2K3_ENST00000316920.6_Missense_Mutation_p.V222I	p.V251I	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	9	1000	+			251			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.751G>A	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369435	0.42003	2.27E-4	0.001395	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.40756	1.02;1.02	5.13	5.13	0.70059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.085299	0.46758	D	0.000277	T	0.19565	0.0470	N	0.02345	-0.59	0.58432	D	0.99999	B	0.10296	0.003	B	0.11329	0.006	T	0.08351	-1.0726	10	0.32370	T	0.25	-49.0281	11.9966	0.53206	0.0796:0.0:0.9204:0.0	.	251	P46734	MP2K3_HUMAN	I	251;222;222;255	ENSP00000345083:V251I;ENSP00000355081:V222I	ENSP00000319139:V255I	V	+	1	0	MAP2K3	21149010	1.000000	0.71417	0.951000	0.38953	0.735000	0.41995	3.362000	0.52314	2.387000	0.81309	0.462000	0.41574	GTC		0.637	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		21	539	0	0	0	1	0	21	539				
DSCAM	1826	broad.mit.edu	37	21	41559185	41559185	+	Splice_Site	SNP	C	C	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr21:41559185C>A	ENST00000400454.1	-	14	3129	c.2652G>T	c.(2650-2652)gaG>gaT	p.E884D		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	884					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTCTGGGGGCTCTGTGCCAT	0.483																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.e14-1		Down syndrome cell adhesion molecule							94.0	94.0	94.0					21																	41559185		1945	4152	6097	SO:0001630	splice_region_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41559185C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2651-1G>T	21.37:g.41559185C>A							p.E884_splice	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			14	3129	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	884					O60468	Splice_Site	SNP	ENST00000400454.1	37	c.2650_splice	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378979	0.42207	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.39229	1.09;1.09	5.18	2.29	0.28610	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	N	0.25332	0.735	0.40427	D	0.979904	B	0.17465	0.022	B	0.12156	0.007	T	0.12993	-1.0526	10	0.62326	D	0.03	.	10.457	0.44557	0.0:0.6553:0.0:0.3447	.	884	O60469	DSCAM_HUMAN	D	884;636	ENSP00000383303:E884D;ENSP00000385342:E636D	ENSP00000383303:E884D	E	-	3	2	DSCAM	40481055	0.293000	0.24371	1.000000	0.80357	0.973000	0.67179	-0.338000	0.07842	0.659000	0.30945	0.561000	0.74099	GAG		0.483	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	Missense_Mutation	4	129	1	0	3.59834e-05	1	3.69875e-05	4	129				
MYH13	8735	broad.mit.edu	37	17	10248866	10248866	+	Missense_Mutation	SNP	C	C	T	rs373857317	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:10248866C>T	ENST00000418404.3	-	13	1494	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	MYH13_ENST00000252172.4_Missense_Mutation_p.R444H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	444	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGGTTGATGCGGGTGACCAT	0.522													C|||	3	0.000599042	0.0008	0.0	5008	,	,		17710	0.0		0.0	False		,,,				2504	0.002					ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(1330-1332)cGc>cAc		myosin, heavy chain 13, skeletal muscle		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	177.0	166.0	170.0		1331	4.3	1.0	17		170	1,8593	1.2+/-3.3	0,1,4296	no	missense	MYH13	NM_003802.2	29	0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	444/1939	10248866	2,12998	2203	4297	6500	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10248866C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1331G>A	17.37:g.10248866C>T	ENSP00000404570:p.Arg444His					MYH13_ENST00000570743.1_Missense_Mutation_p.R444H|MYH13_ENST00000252172.4_Missense_Mutation_p.R444H	p.R444H			Q9UKX3	MYH13_HUMAN			13	1494	-			444			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.1331G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000706	0.93227	2.27E-4	1.16E-4	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.88741	-2.42	4.33	4.33	0.51752	Myosin head, motor domain (2);	.	.	.	.	D	0.95484	0.8533	M	0.91300	3.195	0.47245	D	0.999364	D	0.67145	0.996	D	0.74348	0.983	D	0.96587	0.9435	9	0.87932	D	0	.	17.3699	0.87373	0.0:1.0:0.0:0.0	.	444	Q9UKX3	MYH13_HUMAN	H	444;119	ENSP00000252172:R444H	ENSP00000252172:R444H	R	-	2	0	MYH13	10189591	0.635000	0.27199	1.000000	0.80357	0.998000	0.95712	5.781000	0.68964	2.402000	0.81655	0.561000	0.74099	CGC		0.522	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		6	723	0	0	0	1	0	6	723				
PTPRZ1	5803	broad.mit.edu	37	7	121651648	121651648	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:121651648G>A	ENST00000393386.2	+	12	2959	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	850					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E850K(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTCAGCTACCGAGAGTGATAA	0.478																																						ENST00000393386.2																			1	Substitution - Missense(1)	p.E850K(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2548-2550)Gag>Aag		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							135.0	126.0	129.0					7																	121651648		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651648G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2548G>A	7.37:g.121651648G>A	ENSP00000377047:p.Glu850Lys					PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.E850K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2959	+			850					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2548G>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190780	0.38707	.	.	ENSG00000106278	ENST00000393386	T	0.48836	0.8	5.71	3.81	0.43845	.	0.459334	0.21658	N	0.071069	T	0.38585	0.1046	M	0.63428	1.95	0.80722	D	1	P	0.41710	0.76	B	0.30943	0.122	T	0.40646	-0.9552	10	0.52906	T	0.07	.	9.8396	0.40991	0.0735:0.1382:0.7883:0.0	.	850	P23471	PTPRZ_HUMAN	K	850	ENSP00000377047:E850K	ENSP00000377047:E850K	E	+	1	0	PTPRZ1	121438884	1.000000	0.71417	0.927000	0.36925	0.883000	0.51084	2.369000	0.44231	1.428000	0.47296	-0.128000	0.14901	GAG		0.478	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		5	480	0	0	0	1	0	5	480				
DHX35	60625	broad.mit.edu	37	20	37653909	37653909	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:37653909C>G	ENST00000252011.3	+	18	1741	c.1708C>G	c.(1708-1710)Ctg>Gtg	p.L570V	DHX35_ENST00000373323.4_Missense_Mutation_p.L539V|DHX35_ENST00000373325.2_Missense_Mutation_p.L570V	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	570					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GGAACATTTCCTGAATTACAA	0.418																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1708-1710)Ctg>Gtg		DEAH (Asp-Glu-Ala-His) box polypeptide 35							207.0	208.0	208.0					20																	37653909		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37653909C>G	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1708C>G	20.37:g.37653909C>G	ENSP00000252011:p.Leu570Val					DHX35_ENST00000373325.2_Missense_Mutation_p.L570V|DHX35_ENST00000373323.4_Missense_Mutation_p.L539V	p.L570V	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			18	1741	+		Myeloproliferative disorder(115;0.00878)	570					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.1708C>G	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894638	0.52121	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000373321;ENST00000449559	T;T;T;T	0.41758	3.7;3.65;3.59;0.99	5.41	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	L	0.45228	1.405	0.80722	D	1	P;B	0.40534	0.72;0.429	P;B	0.49752	0.621;0.088	T	0.19778	-1.0295	10	0.25751	T	0.34	.	9.8859	0.41262	0.0:0.834:0.0:0.166	.	539;570	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	V	570;570;539;50;34	ENSP00000362422:L570V;ENSP00000252011:L570V;ENSP00000362420:L539V;ENSP00000397997:L34V	ENSP00000252011:L570V	L	+	1	2	DHX35	37087323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.399000	0.44495	1.269000	0.44280	0.655000	0.94253	CTG		0.418	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		183	781	0	0	0	1	0	183	781				
LHX8	431707	broad.mit.edu	37	1	75622617	75622617	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:75622617G>A	ENST00000294638.5	+	9	1514	c.850G>A	c.(850-852)Gtc>Atc	p.V284I	LHX8_ENST00000356261.3_Missense_Mutation_p.V274I	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	284					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAAGAAACACGTCAGTCCTAA	0.502																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(850-852)Gtc>Atc		LIM homeobox 8							295.0	264.0	274.0					1																	75622617		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75622617G>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.850G>A	1.37:g.75622617G>A	ENSP00000294638:p.Val284Ile					LHX8_ENST00000356261.3_Missense_Mutation_p.V274I	p.V284I	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			9	1514	+			284					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.850G>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852331	0.51270	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86097	-2.07;-2.06	5.12	5.12	0.69794	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	L	0.29908	0.895	0.80722	D	1	B	0.22480	0.07	B	0.16722	0.016	T	0.66400	-0.5933	10	0.27785	T	0.31	.	18.9441	0.92615	0.0:0.0:1.0:0.0	.	284	Q68G74	LHX8_HUMAN	I	284;274	ENSP00000294638:V284I;ENSP00000348597:V274I	ENSP00000294638:V284I	V	+	1	0	LHX8	75395205	1.000000	0.71417	0.990000	0.47175	0.940000	0.58332	7.404000	0.79996	2.556000	0.86216	0.455000	0.32223	GTC		0.502	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		23	707	0	0	0	1	0	23	707				
GABRA4	2557	broad.mit.edu	37	4	46979145	46979145	+	Silent	SNP	C	C	T	rs556582200		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr4:46979145C>T	ENST00000264318.3	-	5	1492	c.510G>A	c.(508-510)gcG>gcA	p.A170A		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	170					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGGGACACTCCGCACTTATGG	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		13340	0.0		0.0	False		,,,				2504	0.001				Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(508-510)gcG>gcA		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						52.0	50.0	51.0					4																	46979145		2203	4300	6503	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46979145C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.510G>A	4.37:g.46979145C>T							p.A170A	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			5	1492	-			170					Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.510G>A	CCDS3473.1																																																																																				0.343	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			33	183	0	0	0	1	0	33	183				
HECTD4	283450	broad.mit.edu	37	12	112605307	112605307	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:112605307G>A	ENST00000430131.2	-	71	12227	c.11082C>T	c.(11080-11082)taC>taT	p.Y3694Y	HECTD4_ENST00000377560.5_Silent_p.Y3944Y|HECTD4_ENST00000550722.1_Silent_p.Y3970Y			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3694	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCTCCTCCCCGTAGGTGATGG	0.647																																						ENST00000550722.1																			0											c.(11908-11910)taC>taT		HECT domain containing E3 ubiquitin protein ligase 4							33.0	40.0	38.0					12																	112605307		1981	4147	6128	SO:0001819	synonymous_variant	283450							g.chr12:112605307G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11082C>T	12.37:g.112605307G>A						HECTD4_ENST00000377560.5_Silent_p.Y3944Y|HECTD4_ENST00000430131.2_Silent_p.Y3694Y	p.Y3970Y	NM_001109662.3	NP_001103132.3					72	12305	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.11910C>T																																																																																					0.647	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	159	0	0	0	1	0	4	159				
DNPEP	23549	broad.mit.edu	37	2	220239025	220239025	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:220239025A>C	ENST00000273075.4	-	15	1667	c.1447T>G	c.(1447-1449)Tta>Gta	p.L483V	DNPEP_ENST00000523282.1_Missense_Mutation_p.L491V|DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000373972.1_Missense_Mutation_p.L408V	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	473					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAATCCACTAAGAGATTATGG	0.473																																						ENST00000273075.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1447-1449)Tta>Gta		aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						110.0	106.0	107.0					2																	220239025		1950	4138	6088	SO:0001583	missense	23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220239025A>C		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.1447T>G	2.37:g.220239025A>C	ENSP00000273075:p.Leu483Val					DNPEP_ENST00000373972.1_Missense_Mutation_p.L408V|DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000523282.1_Missense_Mutation_p.L491V	p.L483V	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	1667	-		Renal(207;0.0474)	473					Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	c.1447T>G	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	A	2.901	-0.227412	0.06022	.	.	ENSG00000123992	ENST00000273075;ENST00000373972;ENST00000523282;ENST00000535056	.	.	.	5.44	-10.9	0.00192	.	1.368830	0.04681	N	0.412341	T	0.11495	0.0280	N	0.11023	0.085	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.13388	-1.0511	9	0.13470	T	0.59	1.4126	0.5348	0.00635	0.2362:0.1861:0.301:0.2768	.	491;491;473;483	E7ETB3;B7Z7F0;Q9ULA0;Q53SB6	.;.;DNPEP_HUMAN;.	V	483;408;491;376	.	ENSP00000273075:L483V	L	-	1	2	DNPEP	219947269	0.000000	0.05858	0.016000	0.15963	0.364000	0.29643	-1.670000	0.01956	-1.757000	0.01316	-0.333000	0.08304	TTA		0.473	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		50	256	0	0	0	1	0	50	256				
WDR37	22884	broad.mit.edu	37	10	1149626	1149626	+	Missense_Mutation	SNP	C	C	A	rs150728900		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:1149626C>A	ENST00000358220.1	+	10	955	c.811C>A	c.(811-813)Cgc>Agc	p.R271S	WDR37_ENST00000263150.4_Missense_Mutation_p.R271S			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	271										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CCCCACCATCCGCGTCCCACT	0.622																																						ENST00000358220.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17						c.(811-813)Cgc>Agc		WD repeat domain 37							77.0	69.0	72.0					10																	1149626		2203	4300	6503	SO:0001583	missense	22884							g.chr10:1149626C>A	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.811C>A	10.37:g.1149626C>A	ENSP00000350954:p.Arg271Ser					WDR37_ENST00000263150.4_Missense_Mutation_p.R271S	p.R271S			Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	10	955	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	271					A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	c.811C>A	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976358	0.74360	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	T;T	0.01265	5.08;5.08	5.95	4.98	0.66077	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.10981	0.0268	M	0.92604	3.325	0.80722	D	1	D;D	0.63046	0.992;0.992	P;D	0.65987	0.9;0.94	T	0.00033	-1.2272	10	0.72032	D	0.01	.	13.835	0.63404	0.2572:0.7428:0.0:0.0	.	272;271	A8K976;Q9Y2I8	.;WDR37_HUMAN	S	271	ENSP00000350954:R271S;ENSP00000263150:R271S	ENSP00000263150:R271S	R	+	1	0	WDR37	1139626	1.000000	0.71417	0.536000	0.28039	0.675000	0.39556	2.057000	0.41365	2.811000	0.96726	0.655000	0.94253	CGC		0.622	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		52	241	1	0	1.27102e-15	1	1.36357e-15	52	241				
ANPEP	290	broad.mit.edu	37	15	90334315	90334315	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr15:90334315G>A	ENST00000300060.6	-	19	2851	c.2538C>T	c.(2536-2538)agC>agT	p.S846S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	846	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TCAGGGTGTAGCTCAGGTACC	0.532																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(2536-2538)agC>agT		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						146.0	129.0	134.0					15																	90334315		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90334315G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2538C>T	15.37:g.90334315G>A							p.S846S	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		19	2851	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		846			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.2538C>T	CCDS10356.1																																																																																				0.532	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			13	363	0	0	0	1	0	13	363				
BRWD1	54014	broad.mit.edu	37	21	40578077	40578077	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr21:40578077G>A	ENST00000333229.2	-	37	4648	c.4321C>T	c.(4321-4323)Cgg>Tgg	p.R1441W	BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441W|BRWD1_ENST00000342449.3_Missense_Mutation_p.R1441W	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAATTTTGCCGTTGCTTGAAC	0.328																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4321-4323)Cgg>Tgg		bromodomain and WD repeat domain containing 1							127.0	133.0	131.0					21																	40578077		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40578077G>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4321C>T	21.37:g.40578077G>A	ENSP00000330753:p.Arg1441Trp					BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441W|BRWD1_ENST00000333229.2_Missense_Mutation_p.R1441W	p.R1441W	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			37	4399	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1441					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4321C>T	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.62|14.62	2.589350|2.589350	0.46214|0.46214	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	T;T;T|.	0.59638|.	0.25;0.28;0.34|.	4.87|4.87	-4.09|-4.09	0.03951|0.03951	.|.	0.173450|.	0.35970|.	N|.	0.002879|.	T|T	0.47432|0.47432	0.1445|0.1445	L|L	0.58101|0.58101	1.795|1.795	0.09310|0.09310	N|N	0.999995|0.999995	D;D;B|.	0.71674|.	0.997;0.998;0.009|.	P;P;B|.	0.56474|.	0.799;0.785;0.003|.	T|T	0.52366|0.52366	-0.8585|-0.8585	10|5	0.87932|.	D|.	0|.	-0.1605|-0.1605	11.4109|11.4109	0.49925|0.49925	0.0715:0.0:0.3738:0.5547|0.0715:0.0:0.3738:0.5547	.|.	1441;1441;1441|.	Q9NSI6-3;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	W|M	1441;1441;1441;397|378	ENSP00000330753:R1441W;ENSP00000344333:R1441W;ENSP00000370178:R1441W|.	ENSP00000330753:R1441W|.	R|T	-|-	1|2	2|0	BRWD1|BRWD1	39499947|39499947	0.044000|0.044000	0.20184|0.20184	0.347000|0.347000	0.25668|0.25668	0.557000|0.557000	0.35523|0.35523	0.106000|0.106000	0.15354|0.15354	-0.524000|-0.524000	0.06400|0.06400	-0.215000|-0.215000	0.12644|0.12644	CGG|ACG		0.328	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		141	659	0	0	0	1	0	141	659				
CES3	23491	broad.mit.edu	37	16	67006841	67006841	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:67006841C>T	ENST00000303334.4	+	13	1676	c.1605C>T	c.(1603-1605)gcC>gcT	p.A535A	CES3_ENST00000543856.1_Silent_p.A174A|CES3_ENST00000394037.1_Silent_p.A532A	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	535						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TGCCACGGGCCGGACAGAAGT	0.582																																						ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(1603-1605)gcC>gcT		carboxylesterase 3							89.0	88.0	88.0					16																	67006841		2200	4300	6500	SO:0001819	synonymous_variant	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:67006841C>T	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1605C>T	16.37:g.67006841C>T						CES3_ENST00000543856.1_Silent_p.A174A|CES3_ENST00000394037.1_Silent_p.A532A	p.A535A	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	13	1676	+		Ovarian(137;0.0563)	535					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Silent	SNP	ENST00000303334.4	37	c.1605C>T	CCDS10826.1																																																																																				0.582	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		18	366	0	0	0	1	0	18	366				
LRCH1	23143	broad.mit.edu	37	13	47266683	47266683	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:47266683G>T	ENST00000389798.3	+	8	1224	c.1027G>T	c.(1027-1029)Gac>Tac	p.D343Y	LRCH1_ENST00000389797.3_Missense_Mutation_p.D343Y|LRCH1_ENST00000311191.6_Missense_Mutation_p.D343Y	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	343										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TTCTGACGAAGACACTGTTAG	0.418																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1027-1029)Gac>Tac		leucine-rich repeats and calponin homology (CH) domain containing 1							168.0	136.0	147.0					13																	47266683		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47266683G>T	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1027G>T	13.37:g.47266683G>T	ENSP00000374448:p.Asp343Tyr					LRCH1_ENST00000389798.3_Missense_Mutation_p.D343Y|LRCH1_ENST00000389797.3_Missense_Mutation_p.D343Y	p.D343Y	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	8	1256	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	343					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.1027G>T	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882904	0.72410	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797;ENST00000463929	T;T;T	0.59906	0.35;0.39;0.23	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.77928	0.4204	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.999;0.999	T	0.73448	-0.3979	10	0.21540	T	0.41	-24.1686	19.122	0.93367	0.0:0.0:1.0:0.0	.	343;343;343;343	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	Y	343;343;343;89	ENSP00000308493:D343Y;ENSP00000374448:D343Y;ENSP00000374447:D343Y	ENSP00000308493:D343Y	D	+	1	0	LRCH1	46164684	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.924000	0.87555	2.770000	0.95276	0.655000	0.94253	GAC		0.418	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		113	468	1	0	2.91849e-64	1	3.22494e-64	113	468				
TGFBR2	7048	broad.mit.edu	37	3	30732957	30732957	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:30732957G>T	ENST00000295754.5	+	7	1952	c.1570G>T	c.(1570-1572)Gac>Tac	p.D524Y	TGFBR2_ENST00000359013.4_Missense_Mutation_p.D549Y	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	524	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.D524N(1)|p.D524Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CTGGGACCACGACCCAGAGGC	0.607																																						ENST00000295754.5																			2	Substitution - Missense(2)	p.D524N(1)|p.D524Y(1)	large_intestine(1)|pancreas(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM064328	TGFBR2	M		c.(1570-1572)Gac>Tac		transforming growth factor, beta receptor II (70/80kDa)							71.0	64.0	67.0					3																	30732957		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732957G>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1570G>T	3.37:g.30732957G>T	ENSP00000295754:p.Asp524Tyr					TGFBR2_ENST00000359013.4_Missense_Mutation_p.D549Y	p.D524Y	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	1952	+			524			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1570G>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005083	0.93287	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.95103	-3.61;-3.61	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98294	1.0515	10	0.87932	D	0	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	524;549	P37173;D2JYI1	TGFR2_HUMAN;.	Y	524;549;354	ENSP00000295754:D524Y;ENSP00000351905:D549Y	ENSP00000295754:D524Y	D	+	1	0	TGFBR2	30707961	1.000000	0.71417	0.974000	0.42286	0.985000	0.73830	9.869000	0.99810	2.808000	0.96608	0.655000	0.94253	GAC		0.607	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			105	171	1	0	1.43872e-54	1	1.58188e-54	105	171				
ABCA4	24	broad.mit.edu	37	1	94497517	94497517	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:94497517C>T	ENST00000370225.3	-	27	4031	c.3945G>A	c.(3943-3945)caG>caA	p.Q1315Q		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1315					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATTGGAGTCCTGGGGTGTCT	0.632																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(3943-3945)caG>caA		ATP-binding cassette, sub-family A (ABC1), member 4							45.0	53.0	50.0					1																	94497517		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94497517C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3945G>A	1.37:g.94497517C>T							p.Q1315Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	27	4031	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1315					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.3945G>A	CCDS747.1																																																																																				0.632	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		19	383	0	0	0	1	0	19	383				
DAW1	164781	broad.mit.edu	37	2	228762908	228762908	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:228762908G>A	ENST00000309931.2	+	6	534	c.451G>A	c.(451-453)Gcc>Acc	p.A151T	DAW1_ENST00000373666.2_Missense_Mutation_p.A151T|DAW1_ENST00000545118.1_Missense_Mutation_p.A136T	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	151						cilium (GO:0005929)											TGACAAAATCGCCACTGGGTC	0.303																																						ENST00000373666.2																			0											c.(451-453)Gcc>Acc		dynein assembly factor with WDR repeat domains 1							40.0	43.0	42.0					2																	228762908		2202	4299	6501	SO:0001583	missense	164781							g.chr2:228762908G>A		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.451G>A	2.37:g.228762908G>A	ENSP00000311899:p.Ala151Thr					DAW1_ENST00000309931.2_Missense_Mutation_p.A151T|DAW1_ENST00000545118.1_Missense_Mutation_p.A136T	p.A151T							6	1087	+								Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.451G>A	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458128	0.84317	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	T;T;T	0.70282	-0.47;-0.47;-0.47	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86368	0.5916	M	0.88241	2.94	0.58432	D	0.999999	D	0.89917	1.0	D	0.68192	0.956	D	0.88962	0.3394	10	0.87932	D	0	.	17.5928	0.88001	0.0:0.0:1.0:0.0	.	151	Q8N136	WDR69_HUMAN	T	151;151;136	ENSP00000362770:A151T;ENSP00000311899:A151T;ENSP00000437887:A136T	ENSP00000311899:A151T	A	+	1	0	WDR69	228471152	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.323000	0.90002	2.507000	0.84556	0.650000	0.86243	GCC		0.303	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		48	269	0	0	0	1	0	48	269				
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T|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_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T	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		9	568	0	0	0	1	0	9	568				
UGT2B28	54490	broad.mit.edu	37	4	70152481	70152481	+	Silent	SNP	A	A	G	rs141618560	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr4:70152481A>G	ENST00000335568.5	+	3	884	c.882A>G	c.(880-882)gaA>gaG	p.E294E	UGT2B28_ENST00000511240.1_Silent_p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	294					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.E294E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATGGAGGAATTTGTACAGA	0.393													a|||	49	0.00978435	0.0159	0.0043	5008	,	,		10804	0.004		0.005	False		,,,				2504	0.0164					ENST00000335568.5																			1	Substitution - coding silent(1)	p.E294E(1)	kidney(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(880-882)gaA>gaG		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)	G	,	12,4124		0,12,2056	125.0	143.0	138.0		882,882	-1.6	0.9	4	dbSNP_134	138	9,8499		0,9,4245	no	coding-synonymous,coding-synonymous	UGT2B28	NM_001207004.1,NM_053039.1	,	0,21,6301	GG,GA,AA		0.1058,0.2901,0.1661	,	294/336,294/530	70152481	21,12623	2068	4254	6322	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70152481A>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.882A>G	4.37:g.70152481A>G						UGT2B28_ENST00000511240.1_Silent_p.E294E	p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			3	884	+			294					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.882A>G	CCDS3528.1																																																																																				0.393	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		5	448	0	0	0	1	0	5	448				
PARVA	55742	broad.mit.edu	37	11	12534985	12534985	+	Intron	SNP	G	G	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:12534985G>T	ENST00000550549.1	+	9	847				PARVA_ENST00000334956.8_Intron|PARVA_ENST00000539723.1_Intron|PARVA_ENST00000538608.1_Missense_Mutation_p.L239F			Q9NVD7	PARVA_HUMAN	parvin, alpha						actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		CCTGCAGCTTGCGAGCTTCCT	0.542																																						ENST00000538608.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11						c.(715-717)ttG>ttT		parvin, alpha																																				SO:0001627	intron_variant	55742				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding	g.chr11:12534985G>T	AF237771	CCDS44541.1, CCDS44541.2	11p15.3	2014-06-13	2005-05-26		ENSG00000197702	ENSG00000197702		"""Parvins"""	14652	protein-coding gene	gene with protein product		608120	"""matrix-remodelling associated 2"""	MXRA2		11171322	Standard	NM_018222		Approved	FLJ12254, FLJ10793	uc001mki.4	Q9NVD7	OTTHUMG00000165778	ENST00000550549.1:c.798+78G>T	11.37:g.12534985G>T						PARVA_ENST00000539723.1_Intron|PARVA_ENST00000550549.1_Intron|PARVA_ENST00000334956.8_Intron	p.L239F			Q9NVD7	PARVA_HUMAN		Epithelial(150;0.00624)	9	853	+			187					Q96C85|Q9HA48	Missense_Mutation	SNP	ENST00000550549.1	37	c.717G>T		.	.	.	.	.	.	.	.	.	.	G	12.91	2.078126	0.36662	.	.	ENSG00000197702	ENST00000538608	T	0.39056	1.1	3.92	2.05	0.26809	.	.	.	.	.	T	0.21347	0.0514	.	.	.	0.09310	N	1	P	0.36616	0.561	B	0.25405	0.06	T	0.08371	-1.0725	7	.	.	.	.	6.0939	0.20008	0.2303:0.0:0.7697:0.0	.	239	B7Z952	.	F	239	ENSP00000442960:L239F	.	L	+	3	2	PARVA	12491561	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.699000	0.25586	0.632000	0.30432	-0.379000	0.06801	TTG		0.542	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018222		11	200	1	0	0.010729	1	0.0107778	11	200				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			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_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	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		9	576	0	0	0	1	0	9	576				
NT5C2	22978	broad.mit.edu	37	10	104934648	104934648	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:104934648G>A	ENST00000404739.3	-	1	91	c.68C>T	c.(67-69)gCc>gTc	p.A23V	NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000343289.5_Missense_Mutation_p.A23V|NT5C2_ENST00000470299.1_Missense_Mutation_p.A23V			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	23					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	CTTTTTCAGGGCATGCTTATC	0.378																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(67-69)gCc>gTc		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						237.0	220.0	226.0					10																	104934648		2203	4300	6503	SO:0001583	missense	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104934648G>A	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.68C>T	10.37:g.104934648G>A	ENSP00000383960:p.Ala23Val					NT5C2_ENST00000404739.3_Missense_Mutation_p.A23V|NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000470299.1_Missense_Mutation_p.A23V	p.A23V	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	2	155	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	23					B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	c.68C>T	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240896	0.58995	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000452156	T;T;T	0.18502	2.21;2.21;2.22	5.39	4.49	0.54785	.	0.159024	0.56097	D	0.000039	T	0.10637	0.0260	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12142	-1.0559	10	0.24483	T	0.36	-2.4411	13.313	0.60390	0.0782:0.0:0.9218:0.0	.	23	P49902	5NTC_HUMAN	V	23	ENSP00000339479:A23V;ENSP00000383960:A23V;ENSP00000396468:A23V	ENSP00000339479:A23V	A	-	2	0	NT5C2	104924638	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.904000	0.69886	1.256000	0.44068	0.650000	0.86243	GCC		0.378	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		7	804	0	0	0	1	0	7	804				
BMS1P20	96610	broad.mit.edu	37	22	22661206	22661206	+	RNA	SNP	T	T	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:22661206T>C	ENST00000426066.1	+	0	298					NR_027293.1				BMS1 pseudogene 20																		AGCTGAATCATGCAGAATTTG	0.408																																						ENST00000426066.1																			0																																																			0							g.chr22:22661206T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661206T>C								NR_027293.1						0	298	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.408	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			6	210	0	0	0	1	0	6	210				
LAMA1	284217	broad.mit.edu	37	18	7023334	7023334	+	Missense_Mutation	SNP	C	C	T	rs369294134		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr18:7023334C>T	ENST00000389658.3	-	19	2623	c.2530G>A	c.(2530-2532)Gaa>Aaa	p.E844K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	844	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACACAAGATTCGCCAGGCACT	0.532																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(2530-2532)Gaa>Aaa		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	LYS/GLU	0,4406		0,0,2203	103.0	95.0	98.0		2530	4.6	0.7	18		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMA1	NM_005559.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	844/3076	7023334	1,13005	2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7023334C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2530G>A	18.37:g.7023334C>T	ENSP00000374309:p.Glu844Lys						p.E844K	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			19	2623	-		Colorectal(10;0.172)	844			Laminin EGF-like 7.			Missense_Mutation	SNP	ENST00000389658.3	37	c.2530G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767948	0.31320	0.0	1.16E-4	ENSG00000101680	ENST00000389658	T	0.61392	0.11	5.47	4.61	0.57282	EGF-like, laminin (4);	0.325995	0.26971	N	0.021577	T	0.49440	0.1557	L	0.52573	1.65	0.22745	N	0.99879	B	0.12013	0.005	B	0.10450	0.005	T	0.38478	-0.9659	10	0.31617	T	0.26	.	10.5047	0.44826	0.0:0.753:0.1702:0.0769	.	844	P25391	LAMA1_HUMAN	K	844	ENSP00000374309:E844K	ENSP00000374309:E844K	E	-	1	0	LAMA1	7013334	0.334000	0.24739	0.677000	0.29947	0.127000	0.20565	3.215000	0.51169	1.323000	0.45263	-0.149000	0.13747	GAA		0.532	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		49	170	0	0	0	1	0	49	170				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_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_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_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		12	145	0	0	0	1	0	12	145				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170029	20170029	+	RNA	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr15:20170029C>T	ENST00000338912.5	-	0	242									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		CCTGGAACTTCTGTGCATAGC	0.547																																						ENST00000338912.5																			0																				159.0	154.0	156.0					15																	20170029		2104	4233	6337			0							g.chr15:20170029C>T	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170029C>T														0	242	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.547	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			7	638	0	0	0	1	0	7	638				
POLR2A	5430	broad.mit.edu	37	17	7401414	7401414	+	Missense_Mutation	SNP	G	G	A	rs141769858		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:7401414G>A	ENST00000322644.6	+	8	1619	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	POLR2A_ENST00000572844.1_Missense_Mutation_p.R407H	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	407					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GAACTAGTGCGCAGGGGGAAC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		19258	0.0		0.0	False		,,,				2504	0.001					ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(1219-1221)cGc>cAc		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa		G	HIS/ARG	10,4396	16.8+/-37.8	0,10,2193	98.0	86.0	90.0		1220	5.6	1.0	17	dbSNP_134	90	0,8600		0,0,4300	yes	missense	POLR2A	NM_000937.4	29	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	possibly-damaging	407/1971	7401414	10,12996	2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7401414G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1220G>A	17.37:g.7401414G>A	ENSP00000314949:p.Arg407His					POLR2A_ENST00000572844.1_Missense_Mutation_p.R407H	p.R407H	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			8	1619	+		Prostate(122;0.173)	407					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.1220G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969615	0.74246	0.00227	0.0	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.68765	-0.35	5.6	5.6	0.85130	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	M	0.86343	2.81	0.58432	D	0.999999	B;B	0.23490	0.086;0.024	B;B	0.22152	0.038;0.014	T	0.73572	-0.3940	10	0.62326	D	0.03	-11.3406	18.3894	0.90477	0.0:0.0:1.0:0.0	.	407;407	P24928;Q6NX41	RPB1_HUMAN;.	H	363;407	ENSP00000314949:R407H	ENSP00000314949:R407H	R	+	2	0	SLC35G6	7342138	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.828000	0.92047	2.653000	0.90120	0.563000	0.77884	CGC		0.517	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		5	339	0	0	0	1	0	5	339				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			7	636	0	0	0	1	0	7	636				
ST6GALNAC5	81849	broad.mit.edu	37	1	77334298	77334298	+	Silent	SNP	G	G	A	rs554217920	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:77334298G>A	ENST00000477717.1	+	2	367	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	44	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						agcagcagcagcaacagcagc	0.711													G|||	2	0.000399361	0.0	0.0	5008	,	,		11676	0.002		0.0	False		,,,				2504	0.0					ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(130-132)caG>caA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							12.0	12.0	12.0					1																	77334298		2054	3972	6026	SO:0001819	synonymous_variant	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334298G>A		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.132G>A	1.37:g.77334298G>A						ST6GALNAC5_ENST00000496845.1_3'UTR	p.Q44Q	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	367	+			44			Poly-Gln.		B1AK82	Silent	SNP	ENST00000477717.1	37	c.132G>A	CCDS673.1																																																																																				0.711	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		4	120	0	0	0	1	0	4	120				
DNAJC4	3338	broad.mit.edu	37	11	63999972	63999972	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:63999972G>A	ENST00000321685.3	+	4	716	c.251G>A	c.(250-252)cGt>cAt	p.R84H	VEGFB_ENST00000309422.2_5'Flank|VEGFB_ENST00000426086.2_5'Flank|DNAJC4_ENST00000355040.4_Intron|DNAJC4_ENST00000321460.5_Missense_Mutation_p.R84H|RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	84	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						GAGGCATACCGTGTGCTCAGC	0.632																																						ENST00000321685.3																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(250-252)cGt>cAt		DnaJ (Hsp40) homolog, subfamily C, member 4							65.0	75.0	72.0					11																	63999972		2115	4223	6338	SO:0001583	missense	3338				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding	g.chr11:63999972G>A	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792	ENST00000321685.3:c.251G>A	11.37:g.63999972G>A	ENSP00000396896:p.Arg84His					DNAJC4_ENST00000321460.5_Missense_Mutation_p.R84H|RP11-783K16.14_ENST00000539963.1_RNA|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000355040.4_Intron	p.R84H	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN			4	716	+			84			J.		O14716	Missense_Mutation	SNP	ENST00000321685.3	37	c.251G>A	CCDS41666.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569823	0.28003	.	.	ENSG00000110011	ENST00000321685;ENST00000321460	T;T	0.29917	1.55;1.55	4.04	-6.62	0.01813	Heat shock protein DnaJ, N-terminal (5);	0.346876	0.25135	N	0.032869	T	0.14614	0.0353	N	0.25890	0.77	0.25398	N	0.98846	P;B	0.38565	0.637;0.029	B;B	0.25506	0.061;0.011	T	0.02220	-1.1193	10	0.59425	D	0.04	-0.004	15.2131	0.73241	0.2268:0.0:0.7732:0.0	.	84;84	Q6PIN0;Q9NNZ3	.;DNJC4_HUMAN	H	84	ENSP00000396896:R84H;ENSP00000320548:R84H	ENSP00000320548:R84H	R	+	2	0	DNAJC4	63756548	0.063000	0.20901	0.002000	0.10522	0.787000	0.44495	0.222000	0.17699	-1.482000	0.01860	-0.448000	0.05591	CGT		0.632	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			7	179	0	0	0	1	0	7	179				
PDE11A	50940	broad.mit.edu	37	2	178762794	178762794	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:178762794G>A	ENST00000286063.6	-	4	1610	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	PDE11A_ENST00000409504.1_Silent_p.I73I|PDE11A_ENST00000449286.2_Silent_p.I73I|PDE11A_ENST00000358450.4_Silent_p.I181I|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	431	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.I431I(2)|p.I181I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CTGGTGATTCGATGTCCTCTA	0.348									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			4	Substitution - coding silent(4)	p.I431I(2)|p.I181I(2)	large_intestine(4)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(1291-1293)atC>atT		phosphodiesterase 11A							116.0	112.0	114.0					2																	178762794		2203	4300	6503	SO:0001819	synonymous_variant	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178762794G>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1293C>T	2.37:g.178762794G>A						PDE11A_ENST00000449286.2_Silent_p.I73I|PDE11A_ENST00000409504.1_Silent_p.I73I|PDE11A_ENST00000358450.4_Silent_p.I181I|PDE11A_ENST00000497003.1_5'UTR	p.I431I	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		4	1610	-			431			GAF 2.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	c.1293C>T	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.059928	0.19987	.	.	ENSG00000128655	ENST00000433879	.	.	.	5.89	0.569	0.17340	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49808	-0.8900	4	.	.	.	.	9.715	0.40270	0.7158:0.0:0.2842:0.0	.	.	.	.	L	70	.	.	S	-	2	0	PDE11A	178471040	0.922000	0.31269	0.995000	0.50966	0.966000	0.64601	0.180000	0.16860	-0.128000	0.11641	-0.302000	0.09304	TCG		0.348	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			92	337	0	0	0	1	0	92	337				
USP42	84132	broad.mit.edu	37	7	6185257	6185257	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:6185257C>T	ENST00000306177.5	+	10	1259	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	367	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GTTTTAATTGCCATGCTGGCC	0.423																																						ENST00000306177.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1099-1101)tgC>tgT		ubiquitin specific peptidase 42							138.0	122.0	127.0					7																	6185257		1913	4121	6034	SO:0001819	synonymous_variant	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6185257C>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1101C>T	7.37:g.6185257C>T							p.C367C	NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	10	1259	+		Ovarian(82;0.0423)	367					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	c.1101C>T	CCDS47535.1																																																																																				0.423	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		4	154	0	0	0	1	0	4	154				
ROR2	4920	broad.mit.edu	37	9	94493239	94493239	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:94493239G>A	ENST00000375708.3	-	7	1334	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M	ROR2_ENST00000375715.1_Missense_Mutation_p.T239M|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	379	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTTATTCTGCGTAAAGCACCA	0.527																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1135-1137)aCg>aTg		receptor tyrosine kinase-like orphan receptor 2							86.0	78.0	81.0					9																	94493239		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94493239G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1136C>T	9.37:g.94493239G>A	ENSP00000364860:p.Thr379Met					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.T239M	p.T379M	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			7	1334	-			379			Kringle.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.1136C>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557372	0.86231	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.70986	-0.53;-0.53	3.95	3.95	0.45737	Kringle (4);Kringle-like fold (1);	0.000000	0.41605	U	0.000845	D	0.90417	0.7000	H	0.98769	4.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.98;0.987	D	0.94624	0.7816	10	0.87932	D	0	.	16.5487	0.84458	0.0:0.0:1.0:0.0	.	379;379;239	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	M	239;379	ENSP00000364867:T239M;ENSP00000364860:T379M	ENSP00000364860:T379M	T	-	2	0	ROR2	93533060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.469000	0.97679	2.199000	0.70637	0.561000	0.74099	ACG		0.527	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			6	464	0	0	0	1	0	6	464				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		8	197	0	0	0	1	0	8	197				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			0							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		10	257	0	0	0	1	0	10	257				
LRRC37BP1	147172	broad.mit.edu	37	17	28961033	28961033	+	RNA	SNP	T	T	G	rs397833613		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:28961033T>G	ENST00000417404.1	+	0	1291									leucine rich repeat containing 37B pseudogene 1																		AGTTCCAGGATATGACTATAA	0.264																																						ENST00000417404.1																			0																																																			0							g.chr17:28961033T>G	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28961033T>G						SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA								0	1291	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.264	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		5	196	0	0	0	1	0	5	196				
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	T	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:57485457T>C	ENST00000300131.3	+	2	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000357680.4_Silent_p.P211P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	211					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.P211P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTCCCCCCCTGCAGGGGGAG	0.711																																						ENST00000300131.3																			3	Substitution - coding silent(3)	p.P211P(3)	prostate(1)|lung(1)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(631-633)ccT>ccC		NGFI-A binding protein 2 (EGR1 binding protein 2)																																				SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485457T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.633T>C	12.37:g.57485457T>C						NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000342556.6_Silent_p.P211P	p.P211P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	1011	+			211					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.633T>C	CCDS8930.1																																																																																				0.711	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		8	110	0	0	0	1	0	8	110				
TPCN1	53373	broad.mit.edu	37	12	113711435	113711435	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:113711435G>A	ENST00000335509.6	+	10	1218	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	TPCN1_ENST00000550785.1_Missense_Mutation_p.V374M|TPCN1_ENST00000392569.4_Missense_Mutation_p.V234M|TPCN1_ENST00000541517.1_Missense_Mutation_p.V374M	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	302					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTTCTTCATCGTGTACCTCTC	0.557																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(1120-1122)Gtg>Atg		two pore segment channel 1							285.0	219.0	241.0					12																	113711435		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113711435G>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.904G>A	12.37:g.113711435G>A	ENSP00000335300:p.Val302Met					TPCN1_ENST00000335509.6_Missense_Mutation_p.V302M|TPCN1_ENST00000392569.4_Missense_Mutation_p.V234M|TPCN1_ENST00000541517.1_Missense_Mutation_p.V374M	p.V374M	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			11	1289	+			302					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.1120G>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538199	0.85917	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	5.64	5.64	0.86602	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	L	0.60845	1.875	0.47214	D	0.999354	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.66847	0.947;0.919;0.848	D	0.98287	1.0511	10	0.48119	T	0.1	-26.0173	12.9637	0.58472	0.0742:0.0:0.9258:0.0	.	302;374;302	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	M	302;374;374;234	ENSP00000335300:V302M;ENSP00000448083:V374M;ENSP00000438125:V374M;ENSP00000376350:V234M	ENSP00000335300:V302M	V	+	1	0	TPCN1	112195818	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.600000	0.82769	2.656000	0.90262	0.655000	0.94253	GTG		0.557	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		116	606	0	0	0	1	0	116	606				
FLG	2312	broad.mit.edu	37	1	152282031	152282031	+	Silent	SNP	G	G	A	rs145158439	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:152282031G>A	ENST00000368799.1	-	3	5366	c.5331C>T	c.(5329-5331)tcC>tcT	p.S1777S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1777	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCATGGGCGGACTCAGACT	0.607									Ichthyosis				G|||	5	0.000998403	0.0008	0.0043	5008	,	,		18770	0.0		0.001	False		,,,				2504	0.0					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5329-5331)tcC>tcT		filaggrin		G		11,4395	17.9+/-39.9	0,11,2192	205.0	212.0	209.0		5331	-8.1	0.0	1	dbSNP_134	209	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,12,6491	AA,AG,GG		0.0116,0.2497,0.0923		1777/4062	152282031	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282031G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5331C>T	1.37:g.152282031G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S1777S	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5366	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1777			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.5331C>T	CCDS30860.1																																																																																				0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	1175	0	0	0	1	0	9	1175				
IGHV1-58	28464	broad.mit.edu	37	14	107078513	107078513	+	RNA	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:107078513C>T	ENST00000390628.2	-	0	271									immunoglobulin heavy variable 1-58																		CTGCCAACGACGATCCATCCT	0.527																																						ENST00000390628.2																			0																				107.0	116.0	113.0					14																	107078513		2069	4194	6263			0							g.chr14:107078513C>T	M29809		14q32.33	2012-02-08			ENSG00000211968	ENSG00000211968		"""Immunoglobulins / IGH locus"""	5555	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151953		14.37:g.107078513C>T														0	271	-									RNA	SNP	ENST00000390628.2	37																																																																																						0.527	IGHV1-58-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324599.1	NG_001019		88	329	0	0	0	1	0	88	329				
S100A8	6279	broad.mit.edu	37	1	153362970	153362970	+	Silent	SNP	G	G	A	rs373891072		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:153362970G>A	ENST00000368733.3	-	2	211	c.42C>T	c.(40-42)gaC>gaT	p.D14D	S100A8_ENST00000368732.1_Silent_p.D14D|S100A8_ENST00000477801.1_5'UTR	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	14	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGGTAGACGTCGATGATAG	0.507													N|||	1	0.000199681	0.0	0.0	5008	,	,		19401	0.0		0.0	False		,,,				2504	0.001					ENST00000368733.3																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(40-42)gaC>gaT		S100 calcium binding protein A8		A		0,4406		0,0,2203	184.0	185.0	185.0		42	-8.3	0.0	1		185	1,8599		0,1,4299	no	coding-synonymous	S100A8	NM_002964.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		14/94	153362970	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362970G>A	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10498	protein-coding gene	gene with protein product		123885	"""S100 calcium-binding protein A8 (calgranulin A)"", ""S100 calcium binding protein A8 (calgranulin A)"""	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.42C>T	1.37:g.153362970G>A						S100A8_ENST00000368732.1_Silent_p.D14D|S100A8_ENST00000477801.1_5'UTR	p.D14D	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	211	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		14			EF-hand 1.		A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Silent	SNP	ENST00000368733.3	37	c.42C>T	CCDS1038.1																																																																																				0.507	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		11	899	0	0	0	1	0	11	899				
NOL6	65083	broad.mit.edu	37	9	33464075	33464075	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:33464075C>T	ENST00000379471.2	-	22	2951	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.R903H			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	955					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R955H(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGAGTTTTTGCGGTCTTGGGG	0.567																																						ENST00000379471.2																			1	Substitution - Missense(1)	p.R955H(1)	lung(1)	endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(2863-2865)cGc>cAc		nucleolar protein 6 (RNA-associated)							148.0	131.0	137.0					9																	33464075		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33464075C>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2864G>A	9.37:g.33464075C>T	ENSP00000368784:p.Arg955His					NOL6_ENST00000455041.2_Missense_Mutation_p.R903H|NOL6_ENST00000464829.1_Intron	p.R955H			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	22	2951	-			955					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.2864G>A		.	.	.	.	.	.	.	.	.	.	C	11.60	1.687040	0.29962	.	.	ENSG00000165271	ENST00000379470;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.65	4.76	0.60689	.	0.144743	0.56097	D	0.000022	T	0.35393	0.0930	L	0.58101	1.795	0.39089	D	0.961056	B;B;B;B	0.25486	0.127;0.044;0.104;0.054	B;B;B;B	0.23018	0.028;0.017;0.023;0.043	T	0.24977	-1.0145	10	0.29301	T	0.29	.	7.4292	0.27118	0.0:0.7211:0.0:0.2789	.	903;952;955;955	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	H	9;955;955;511;955;903	ENSP00000368783:R9H;ENSP00000297990:R955H;ENSP00000368784:R955H;ENSP00000395915:R903H	ENSP00000297990:R955H	R	-	2	0	NOL6	33454075	1.000000	0.71417	0.982000	0.44146	0.019000	0.09904	3.448000	0.52943	1.534000	0.49203	0.655000	0.94253	CGC		0.567	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		6	567	0	0	0	1	0	6	567				
SIGLEC14	100049587	broad.mit.edu	37	19	52149092	52149092	+	Missense_Mutation	SNP	C	C	T	rs111981406	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:52149092C>T	ENST00000360844.6	-	3	684	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	215	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V215M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGCGTTTCACCTGACAGGTG	0.647													C|||	4	0.000798722	0.0	0.0	5008	,	,		10676	0.002		0.001	False		,,,				2504	0.001					ENST00000360844.6																			2	Substitution - Missense(2)	p.V215M(2)	central_nervous_system(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(643-645)Gtg>Atg		sialic acid binding Ig-like lectin 14							85.0	81.0	82.0					19																	52149092		2071	4198	6269	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52149092C>T	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.643G>A	19.37:g.52149092C>T	ENSP00000354090:p.Val215Met					SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	p.V215M	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	3	684	-		all_neural(266;0.0299)	215			Ig-like C2-type 1.		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.643G>A	CCDS42604.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	1	0.0013192612137203166	C	16.24	3.066375	0.55539	.	.	ENSG00000254415	ENST00000360844	D	0.89810	-2.57	3.1	3.1	0.35709	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.41396	D	0.000886	D	0.90628	0.7061	M	0.85859	2.78	0.19775	N	0.999952	D	0.64830	0.994	P	0.60345	0.873	D	0.83788	0.0229	10	0.66056	D	0.02	.	9.82	0.40876	0.0:1.0:0.0:0.0	.	215	Q08ET2	SIG14_HUMAN	M	215	ENSP00000354090:V215M	ENSP00000354090:V215M	V	-	1	0	SIGLEC14	56840904	0.048000	0.20356	0.215000	0.23724	0.789000	0.44602	1.698000	0.37794	1.755000	0.51935	0.514000	0.50259	GTG		0.647	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		5	239	0	0	0	1	0	5	239				
ZDBF2	57683	broad.mit.edu	37	2	207175041	207175041	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:207175041A>G	ENST00000374423.3	+	5	6175	c.5789A>G	c.(5788-5790)aAg>aGg	p.K1930R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1930							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTAAGCAAAAGGGGCGTGTG	0.428																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5788-5790)aAg>aGg		zinc finger, DBF-type containing 2							70.0	70.0	70.0					2																	207175041		1960	4152	6112	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207175041A>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5789A>G	2.37:g.207175041A>G	ENSP00000363545:p.Lys1930Arg						p.K1930R	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	6175	+			1930					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.5789A>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	4.060	0.008959	0.07912	.	.	ENSG00000204186	ENST00000374423	T	0.44482	0.92	5.64	-2.84	0.05751	.	.	.	.	.	T	0.19525	0.0469	N	0.22421	0.69	0.09310	N	1	P	0.40144	0.704	B	0.33799	0.17	T	0.22556	-1.0213	9	0.16896	T	0.51	.	5.9471	0.19225	0.1465:0.6094:0.0829:0.1612	.	1930	Q9HCK1	ZDBF2_HUMAN	R	1930	ENSP00000363545:K1930R	ENSP00000363545:K1930R	K	+	2	0	ZDBF2	206883286	0.023000	0.18921	0.000000	0.03702	0.003000	0.03518	0.647000	0.24812	-0.083000	0.12618	0.456000	0.33151	AAG		0.428	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		4	336	0	0	0	1	0	4	336				
IRS1	3667	broad.mit.edu	37	2	227659834	227659834	+	Silent	SNP	A	A	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:227659834A>G	ENST00000305123.5	-	1	4641	c.3621T>C	c.(3619-3621)ccT>ccC	p.P1207P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1207	Pro-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTTGATGAGGGGGTGGGG	0.582																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(3619-3621)ccT>ccC		insulin receptor substrate 1							32.0	42.0	39.0					2																	227659834		2200	4298	6498	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227659834A>G		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3621T>C	2.37:g.227659834A>G						IRS1_ENST00000498335.1_5'UTR	p.P1207P	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	4641	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1207			Pro-rich.			Silent	SNP	ENST00000305123.5	37	c.3621T>C	CCDS2463.1																																																																																				0.582	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		8	184	0	0	0	1	0	8	184				
CSMD2	114784	broad.mit.edu	37	1	34286109	34286109	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:34286109C>T	ENST00000373381.4	-	8	1336	c.1160G>A	c.(1159-1161)gGc>gAc	p.G387D		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	347	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTCGGGTATGCCAGGGTCTGG	0.448																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(1159-1161)gGc>gAc		CUB and Sushi multiple domains 2							174.0	172.0	172.0					1																	34286109		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34286109C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1160G>A	1.37:g.34286109C>T	ENSP00000362479:p.Gly387Asp						p.G387D	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			8	1336	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	347			Sushi 2.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.1160G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.068273	0.93950	.	.	ENSG00000121904	ENST00000373381	T	0.63417	-0.04	5.81	5.81	0.92471	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.76938	2.355	0.80722	D	1	D;B	0.57257	0.979;0.07	P;B	0.60473	0.875;0.102	T	0.76310	-0.3006	10	0.38643	T	0.18	.	19.0707	0.93134	0.0:1.0:0.0:0.0	.	347;387	Q7Z408;E7EUA6	CSMD2_HUMAN;.	D	387	ENSP00000362479:G387D	ENSP00000241312:G347D	G	-	2	0	CSMD2	34058696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.069000	0.71209	2.746000	0.94184	0.655000	0.94253	GGC		0.448	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		7	838	0	0	0	1	0	7	838				
RHPN2	85415	broad.mit.edu	37	19	33517490	33517490	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:33517490G>T	ENST00000254260.3	-	3	269	c.234C>A	c.(232-234)agC>agA	p.S78R	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	78					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGTTGACGAAGCTCAGCTCCA	0.562																																						ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(232-234)agC>agA		rhophilin, Rho GTPase binding protein 2							93.0	90.0	91.0					19																	33517490		2203	4300	6503	SO:0001583	missense	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33517490G>T	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.234C>A	19.37:g.33517490G>T	ENSP00000254260:p.Ser78Arg					RHPN2_ENST00000400226.4_5'UTR	p.S78R	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			3	269	-	Esophageal squamous(110;0.137)		78					B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.234C>A	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355764	0.61293	.	.	ENSG00000131941	ENST00000254260	T	0.14144	2.53	3.88	0.595	0.17490	.	0.084723	0.85682	D	0.000000	T	0.31263	0.0791	M	0.79805	2.47	0.80722	D	1	D	0.65815	0.995	D	0.68621	0.959	T	0.04723	-1.0931	10	0.87932	D	0	-0.3659	6.8437	0.23977	0.4352:0.0:0.5648:0.0	.	78	Q8IUC4	RHPN2_HUMAN	R	78	ENSP00000254260:S78R	ENSP00000254260:S78R	S	-	3	2	RHPN2	38209330	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.028000	0.41088	0.415000	0.25817	0.557000	0.71058	AGC		0.562	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		9	837	1	0	6.72482e-11	1	7.14513e-11	9	837				
ELF3	1999	broad.mit.edu	37	1	201981145	201981145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:201981145G>A	ENST00000359651.3	+	2	3416	c.224G>A	c.(223-225)tGg>tAg	p.W75*	ELF3_ENST00000367283.3_Nonsense_Mutation_p.W75*|ELF3_ENST00000495848.1_3'UTR|RP11-510N19.5_ENST00000504773.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367284.5_Nonsense_Mutation_p.W75*					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GTTCTGGACTGGATCAGCTAC	0.577																																						ENST00000359651.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(223-225)tGg>tAg		E74-like factor 3 (ets domain transcription factor, epithelial-specific )							128.0	127.0	127.0					1																	201981145		2203	4300	6503	SO:0001587	stop_gained	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201981145G>A	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.224G>A	1.37:g.201981145G>A	ENSP00000352673:p.Trp75*					ELF3_ENST00000367283.3_Nonsense_Mutation_p.W75*|ELF3_ENST00000367284.5_Nonsense_Mutation_p.W75*|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR	p.W75*			P78545	ELF3_HUMAN			2	3416	+			75			PNT.			Nonsense_Mutation	SNP	ENST00000359651.3	37	c.224G>A	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	G	38	6.948324	0.97956	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5332	0.95237	0.0:0.0:1.0:0.0	.	.	.	.	X	75;75;75;75;73	.	ENSP00000311348:W75X	W	+	2	0	ELF3	200247768	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.149000	0.94659	2.608000	0.88229	0.591000	0.81541	TGG		0.577	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		121	612	0	0	0	1	0	121	612				
KLHL1	57626	broad.mit.edu	37	13	70535555	70535555	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:70535555G>A	ENST00000377844.4	-	3	1461	c.702C>T	c.(700-702)tcC>tcT	p.S234S	KLHL1_ENST00000545028.1_Silent_p.S41S	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	234	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.S234S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CAAAATAGTCGGAGACTGAAC	0.453																																						ENST00000377844.4																			1	Substitution - coding silent(1)	p.S234S(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(700-702)tcC>tcT		kelch-like family member 1							114.0	100.0	105.0					13																	70535555		2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70535555G>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.702C>T	13.37:g.70535555G>A						KLHL1_ENST00000545028.1_Silent_p.S41S	p.S234S	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	3	1461	-		Breast(118;0.000162)	234			BTB.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.702C>T	CCDS9445.1																																																																																				0.453	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		29	202	0	0	0	1	0	29	202				
EPB41L4B	54566	broad.mit.edu	37	9	111970268	111970268	+	Missense_Mutation	SNP	G	G	A	rs201598200		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:111970268G>A	ENST00000374566.3	-	18	2331	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	605					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACATGATCCGCAACAGGGGA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		19497	0.0		0.0	False		,,,				2504	0.001					ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1813-1815)gCg>gTg		erythrocyte membrane protein band 4.1 like 4B		G	VAL/ALA	0,3688		0,0,1844	130.0	118.0	121.0		1814	5.5	0.1	9		121	4,8220		0,4,4108	yes	missense	EPB41L4B	NM_019114.3	64	0,4,5952	AA,AG,GG		0.0486,0.0,0.0336	benign	605/901	111970268	4,11908	1844	4112	5956	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111970268G>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1814C>T	9.37:g.111970268G>A	ENSP00000363694:p.Ala605Val						p.A605V	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			18	2331	-			605					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.1814C>T	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711206	0.48517	0.0	4.86E-4	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.84516	-1.86	5.49	5.49	0.81192	.	0.000000	0.39834	N	0.001248	T	0.78130	0.4235	N	0.22421	0.69	0.80722	D	1	B	0.22541	0.071	B	0.12156	0.007	T	0.75255	-0.3382	10	0.87932	D	0	.	16.9032	0.86118	0.0:0.0:1.0:0.0	.	605	Q9H329	E41LB_HUMAN	V	290;605	ENSP00000363694:A605V	ENSP00000262536:A290V	A	-	2	0	EPB41L4B	111010089	0.984000	0.35163	0.130000	0.21974	0.350000	0.29205	4.611000	0.61162	2.583000	0.87209	0.561000	0.74099	GCG		0.423	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		5	533	0	0	0	1	0	5	533				
ENPP7	339221	broad.mit.edu	37	17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A	rs551732034		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16426	0.001		0.0	False		,,,				2504	0.0					ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(181-183)Ggg>Agg		ectonucleotide pyrophosphatase/phosphodiesterase 7							59.0	50.0	53.0					17																	77705082		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77705082G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.181G>A	17.37:g.77705082G>A	ENSP00000332656:p.Gly61Arg						p.G61R	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		1	402	+			61						Missense_Mutation	SNP	ENST00000328313.5	37	c.181G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895068	0.72639	.	.	ENSG00000182156	ENST00000328313	D	0.86366	-2.11	4.36	3.39	0.38822	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	H	0.96861	3.895	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.95700	0.8748	10	0.87932	D	0	-44.2888	12.2432	0.54555	0.0846:0.0:0.9154:0.0	.	61	Q6UWV6	ENPP7_HUMAN	R	61	ENSP00000332656:G61R	ENSP00000332656:G61R	G	+	1	0	ENPP7	75319677	1.000000	0.71417	0.720000	0.30636	0.696000	0.40369	5.370000	0.66144	1.038000	0.40049	0.561000	0.74099	GGG		0.647	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		4	126	0	0	0	1	0	4	126				
ANKRD20A8P	729171	broad.mit.edu	37	2	95515048	95515048	+	RNA	SNP	C	C	T	rs200783085	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:95515048C>T	ENST00000432432.2	-	0	609				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		TGGGGTATTACTGTCCTACAA	0.323																																						ENST00000432432.2																			0																																																			0							g.chr2:95515048C>T			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95515048C>T								NR_040113.1						0	609	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.323	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	835	0	0	0	1	0	6	835				
PCDHA9	9752	broad.mit.edu	37	5	140230003	140230003	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:140230003C>T	ENST00000532602.1	+	1	2956	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PCDHA9_ENST00000378122.3_Silent_p.D641D|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGAAACGGACGCACCGCGCC	0.682																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1921-1923)gaC>gaT									59.0	61.0	60.0					5																	140230003		2197	4272	6469	SO:0001819	synonymous_variant	0							g.chr5:140230003C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1923C>T	5.37:g.140230003C>T						PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.D641D|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron	p.D641D	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2647	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1923C>T	CCDS54920.1																																																																																				0.682	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		53	320	0	0	0	1	0	53	320				
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:45128742T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TAATGATTTTTATTATACTTT	0.328													g|||	2160	0.43131	0.3593	0.4986	5008	,	,		16551	0.3482		0.4861	False		,,,				2504	0.5102					ENST00000575173.1																			0																																																			0							g.chr17:45128742T>G																													17.37:g.45128742T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.328	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	425	0	0	0	1	0	5	425				
ARNTL2	56938	broad.mit.edu	37	12	27533278	27533278	+	Missense_Mutation	SNP	G	G	A	rs149871988		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:27533278G>A	ENST00000266503.5	+	5	443	c.425G>A	c.(424-426)cGt>cAt	p.R142H	ARNTL2_ENST00000546179.1_Missense_Mutation_p.R105H|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R57H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R105H|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R94H|ARNTL2_ENST00000544915.1_Missense_Mutation_p.R108H|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R128H			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	142	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CCCATGGCGCGTAAACTGGAC	0.418																																						ENST00000544915.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(322-324)cGt>cAt		aryl hydrocarbon receptor nuclear translocator-like 2		G	HIS/ARG	0,4406		0,0,2203	128.0	115.0	119.0		425	2.4	0.1	12	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARNTL2	NM_020183.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	142/637	27533278	1,13005	2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27533278G>A	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.425G>A	12.37:g.27533278G>A	ENSP00000266503:p.Arg142His					ARNTL2_ENST00000261178.5_Missense_Mutation_p.R94H|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R57H|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R105H|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R128H|ARNTL2_ENST00000266503.5_Missense_Mutation_p.R142H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R105H	p.R108H	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN			4	542	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		142					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.323G>A	CCDS8712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.36|15.36	2.809399|2.809399	0.50421|0.50421	0.0|0.0	1.16E-4|1.16E-4	ENSG00000029153|ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388|ENST00000457040	D;D;D;D;D;D;D|.	0.98044|.	-4.68;-4.68;-4.68;-4.68;-4.68;-4.68;-4.68|.	3.33|3.33	2.41|2.41	0.29592|0.29592	Helix-loop-helix DNA-binding (5);|.	0.166448|.	0.41294|.	N|.	0.000915|.	T|T	0.52933|0.52933	0.1765|0.1765	L|L	0.43701|0.43701	1.375|1.375	0.45962|0.45962	D|D	0.998786|0.998786	P;P;P;P;P;P|.	0.46578|.	0.507;0.708;0.647;0.647;0.501;0.88|.	B;B;B;B;B;P|.	0.44696|.	0.169;0.329;0.233;0.233;0.109;0.458|.	T|T	0.42932|0.42932	-0.9422|-0.9422	10|5	0.54805|.	T|.	0.06|.	.|.	8.1033|8.1033	0.30870|0.30870	0.1179:0.0:0.8821:0.0|0.1179:0.0:0.8821:0.0	.|.	105;108;105;94;128;142|.	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1|.	.;.;.;.;.;BMAL2_HUMAN|.	H|I	108;105;105;128;94;142;57|94	ENSP00000442438:R108H;ENSP00000379238:R105H;ENSP00000438545:R105H;ENSP00000312247:R128H;ENSP00000261178:R94H;ENSP00000266503:R142H;ENSP00000445836:R57H|.	ENSP00000261178:R94H|.	R|V	+|+	2|1	0|0	ARNTL2|ARNTL2	27424545|27424545	0.987000|0.987000	0.35691|0.35691	0.059000|0.059000	0.19551|0.19551	0.969000|0.969000	0.65631|0.65631	6.556000|6.556000	0.73932|0.73932	0.728000|0.728000	0.32382|0.32382	0.655000|0.655000	0.94253|0.94253	CGT|GTA		0.418	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		5	444	0	0	0	1	0	5	444				
UBASH3B	84959	broad.mit.edu	37	11	122659916	122659916	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:122659916G>A	ENST00000284273.5	+	6	1255	c.880G>A	c.(880-882)Ggt>Agt	p.G294S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	294	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CACCAGCGAGGGTTGGATCTA	0.532																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(880-882)Ggt>Agt		ubiquitin associated and SH3 domain containing B							180.0	173.0	175.0					11																	122659916		2202	4299	6501	SO:0001583	missense	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122659916G>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.880G>A	11.37:g.122659916G>A	ENSP00000284273:p.Gly294Ser						p.G294S	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	6	1255	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	294			SH3.		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	c.880G>A	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	36	5.789502	0.96945	.	.	ENSG00000154127	ENST00000284273	T	0.58797	0.31	5.86	5.86	0.93980	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.82042	0.4951	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84720	0.0739	10	0.87932	D	0	-7.8749	20.1931	0.98233	0.0:0.0:1.0:0.0	.	294	Q8TF42	UBS3B_HUMAN	S	294	ENSP00000284273:G294S	ENSP00000284273:G294S	G	+	1	0	UBASH3B	122165126	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.476000	0.97823	2.771000	0.95319	0.563000	0.77884	GGT		0.532	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		192	816	0	0	0	1	0	192	816				
RGPD3	653489	broad.mit.edu	37	2	107084691	107084691	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:107084691G>A	ENST00000409886.3	-	1	141	c.54C>T	c.(52-54)tcC>tcT	p.S18S	RGPD3_ENST00000304514.7_Silent_p.S18S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	18					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCGACGGGGCGGAGCCCTGCA	0.721																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(52-54)tcC>tcT		RANBP2-like and GRIP domain containing 3							59.0	86.0	78.0					2																	107084691		692	1591	2283	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107084691G>A		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.54C>T	2.37:g.107084691G>A						RGPD3_ENST00000304514.7_Silent_p.S18S	p.S18S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			1	141	-			18					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.54C>T	CCDS46379.1																																																																																				0.721	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	70	0	0	0	1	0	5	70				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	221	0	0	0	1	0	7	221				
CACNA1H	8912	broad.mit.edu	37	16	1256208	1256208	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:1256208G>A	ENST00000348261.5	+	12	2956	c.2708G>A	c.(2707-2709)cGc>cAc	p.R903H	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R903H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R903H|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	903					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GCCCTGCGGCGCCAGCTCGTG	0.632																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(2707-2709)cGc>cAc		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						31.0	37.0	35.0					16																	1256208		2137	4226	6363	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1256208G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2708G>A	16.37:g.1256208G>A	ENSP00000334198:p.Arg903His					CACNA1H_ENST00000358590.4_Missense_Mutation_p.R903H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R903H	p.R903H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			12	2956	+		Hepatocellular(780;0.00369)	903					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.2708G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982149	0.93044	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98474	-4.95;-4.95	3.96	3.96	0.45880	Ion transport (1);	0.127635	0.51477	D	0.000098	D	0.98896	0.9626	M	0.85542	2.76	0.40805	D	0.98337	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99884	1.1119	10	0.87932	D	0	.	15.1886	0.73025	0.0:0.0:1.0:0.0	.	903;903	O95180-2;O95180	.;CAC1H_HUMAN	H	903	ENSP00000334198:R903H;ENSP00000351401:R903H	ENSP00000334198:R903H	R	+	2	0	CACNA1H	1196209	1.000000	0.71417	0.993000	0.49108	0.785000	0.44390	9.153000	0.94687	2.050000	0.60909	0.561000	0.74099	CGC		0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		9	38	0	0	0	1	0	9	38				
MOV10L1	54456	broad.mit.edu	37	22	50538027	50538027	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:50538027C>T	ENST00000262794.5	+	3	521	c.438C>T	c.(436-438)tgC>tgT	p.C146C	MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000395858.3_Silent_p.C146C|MOV10L1_ENST00000545383.1_Silent_p.C146C|MOV10L1_ENST00000540615.1_Silent_p.C126C|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	146					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGAGTGTGTGCGAAGGTATGC	0.512																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(436-438)tgC>tgT		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							113.0	94.0	101.0					22																	50538027		2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50538027C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.438C>T	22.37:g.50538027C>T						MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.C146C|MOV10L1_ENST00000545383.1_Silent_p.C146C|MOV10L1_ENST00000540615.1_Silent_p.C126C|MOV10L1_ENST00000475190.1_3'UTR	p.C146C	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	3	521	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	146					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.438C>T	CCDS14084.1																																																																																				0.512	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		47	229	0	0	0	1	0	47	229				
PCDHA9	9752	broad.mit.edu	37	5	140229874	140229874	+	Silent	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:140229874C>T	ENST00000532602.1	+	1	2827	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D	PCDHA9_ENST00000378122.3_Silent_p.D598D|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCAGTGGACGCCGACTCGG	0.672																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1792-1794)gaC>gaT									62.0	69.0	67.0					5																	140229874		2196	4267	6463	SO:0001819	synonymous_variant	0							g.chr5:140229874C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1794C>T	5.37:g.140229874C>T						PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.D598D|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron	p.D598D	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2518	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1794C>T	CCDS54920.1																																																																																				0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		76	311	0	0	0	1	0	76	311				
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:3427759C>T	ENST00000529482.1	+	0	876									tumor suppressing subtransferable candidate 2 pseudogene																		TGTCTGCACACGTCCTGCAGT	0.612																																						ENST00000529482.1																			0																																																			0							g.chr11:3427759C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427759C>T														0	876	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.612	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	184	0	0	0	1	0	4	184				
NOC4L	79050	broad.mit.edu	37	12	132635870	132635870	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:132635870C>T	ENST00000330579.1	+	11	1071	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_5'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	344					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CGTCAAGTACCGCGCCCGCTT	0.652																																						ENST00000330579.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14						c.(1030-1032)Cgc>Tgc		nucleolar complex associated 4 homolog (S. cerevisiae)							117.0	122.0	120.0					12																	132635870		2202	4299	6501	SO:0001583	missense	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132635870C>T		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1030C>T	12.37:g.132635870C>T	ENSP00000328854:p.Arg344Cys					NOC4L_ENST00000538784.1_5'UTR|NOC4L_ENST00000535343.1_3'UTR	p.R344C	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	11	1071	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		344					Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	c.1030C>T	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755773	0.49362	.	.	ENSG00000184967	ENST00000330579	T	0.65178	-0.14	5.2	4.3	0.51218	CCAAT-binding factor (1);	0.000000	0.85682	D	0.000000	D	0.83908	0.5356	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88477	0.3066	10	0.87932	D	0	-22.5329	15.3287	0.74190	0.0:0.8591:0.1409:0.0	.	344	Q9BVI4	NOC4L_HUMAN	C	344	ENSP00000328854:R344C	ENSP00000328854:R344C	R	+	1	0	NOC4L	131201823	1.000000	0.71417	0.489000	0.27452	0.056000	0.15407	2.615000	0.46368	1.165000	0.42670	0.561000	0.74099	CGC		0.652	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		99	483	0	0	0	1	0	99	483				
T	6862	broad.mit.edu	37	6	166574388	166574388	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr6:166574388C>A	ENST00000296946.2	-	8	1439	c.971G>T	c.(970-972)gGa>gTa	p.G324V	T_ENST00000366871.3_Missense_Mutation_p.G266V	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	324					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGCAGGCATTCCAAGGCTGGA	0.522									Chordoma, Familial Clustering of																													ENST00000296946.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(970-972)gGa>gTa		T, brachyury homolog (mouse)							171.0	150.0	157.0					6																	166574388		2203	4300	6503	SO:0001583	missense	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166574388C>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.971G>T	6.37:g.166574388C>A	ENSP00000296946:p.Gly324Val					T_ENST00000366871.3_Missense_Mutation_p.G266V	p.G324V	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	8	1439	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	324					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.971G>T	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	C	8.205	0.798999	0.16397	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.83837	-1.75;-1.77	4.88	4.88	0.63580	.	0.142303	0.47852	D	0.000214	T	0.72179	0.3428	M	0.64997	1.995	0.58432	D	0.999998	P;P;P	0.37914	0.611;0.57;0.565	B;B;B	0.38106	0.265;0.142;0.146	T	0.73341	-0.4013	10	0.33141	T	0.24	.	10.9779	0.47478	0.0:0.9145:0.0:0.0855	.	266;324;266	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	V	324;324;266	ENSP00000296946:G324V;ENSP00000355836:G266V	ENSP00000296946:G324V	G	-	2	0	T	166494378	0.999000	0.42202	0.077000	0.20336	0.013000	0.08279	3.928000	0.56506	2.409000	0.81822	0.655000	0.94253	GGA		0.522	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		9	312	1	0	1.76689e-08	1	1.85945e-08	9	312				
DIO3	1735	broad.mit.edu	37	14	102028329	102028329	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:102028329G>A	ENST00000510508.4	+	1	642	c.496G>A	c.(496-498)Ggc>Agc	p.G166S	DIO3_ENST00000359323.3_Missense_Mutation_p.G140S|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	166					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TCTCAATTTCGGCAGCTGCAC	0.627																																						ENST00000510508.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(496-498)Ggc>Agc		deiodinase, iodothyronine, type III							31.0	36.0	34.0					14																	102028329		2058	4203	6261	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028329G>A	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.496G>A	14.37:g.102028329G>A	ENSP00000427336:p.Gly166Ser					DIO3_ENST00000359323.3_Missense_Mutation_p.G140S	p.G166S			P55073	IOD3_HUMAN			1	642	+		all_neural(303;0.185)	140					G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.496G>A	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030514	0.93575	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.57907	0.37;0.37	3.51	3.51	0.40186	Thioredoxin-like fold (1);	0.000000	0.47852	U	0.000217	T	0.75184	0.3815	M	0.91510	3.215	0.46927	D	0.999255	D	0.89917	1.0	D	0.64877	0.93	T	0.82051	-0.0649	10	0.59425	D	0.04	-16.4547	14.2065	0.65737	0.0:0.0:1.0:0.0	.	140	P55073	IOD3_HUMAN	S	140;166	ENSP00000352273:G140S;ENSP00000427336:G166S	ENSP00000352273:G166S	G	+	1	0	DIO3;AL049836.1	101098082	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.515000	0.98015	1.799000	0.52666	0.462000	0.41574	GGC		0.627	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		13	237	0	0	0	1	0	13	237				
PCDH9	5101	broad.mit.edu	37	13	66878827	66878827	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:66878827G>A	ENST00000377865.2	-	4	3808	c.3674C>T	c.(3673-3675)gCa>gTa	p.A1225V	PCDH9_ENST00000544246.1_Missense_Mutation_p.A1225V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A1191V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A1191V|PCDH9-AS1_ENST00000430861.1_RNA			Q9HC56	PCDH9_HUMAN	protocadherin 9	1225					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1225E(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGCACCTCCTGCTTGCTTATA	0.438																																						ENST00000544246.1																			1	Substitution - Missense(1)	p.A1225E(1)	upper_aerodigestive_tract(1)	breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(3673-3675)gCa>gTa		protocadherin 9							120.0	112.0	114.0					13																	66878827		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:66878827G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3674C>T	13.37:g.66878827G>A	ENSP00000367096:p.Ala1225Val					PCDH9_ENST00000377865.2_Missense_Mutation_p.A1225V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A1191V|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Missense_Mutation_p.A1191V	p.A1225V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	5	4365	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1225					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.3674C>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950604	0.53186	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.57907	0.47;0.47;0.37;0.37	6.05	5.2	0.72013	.	0.461993	0.18412	N	0.142037	T	0.38374	0.1038	N	0.19112	0.55	0.32371	N	0.555834	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.46803	-0.9165	10	0.56958	D	0.05	.	11.2657	0.49110	0.1389:0.0:0.8611:0.0	.	1183;1191;1225	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	V	1225;1225;1191;1191	ENSP00000442186:A1225V;ENSP00000367096:A1225V;ENSP00000401699:A1191V;ENSP00000332060:A1191V	ENSP00000332060:A1191V	A	-	2	0	PCDH9	65776828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.884000	0.56175	1.561000	0.49584	0.650000	0.86243	GCA		0.438	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		59	220	0	0	0	1	0	59	220				
SDHA	6389	broad.mit.edu	37	5	236617	236617	+	Silent	SNP	G	G	T	rs200223188	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:236617G>T	ENST00000264932.6	+	10	1450	c.1335G>T	c.(1333-1335)tcG>tcT	p.S445S	SDHA_ENST00000504309.1_Silent_p.S445S|SDHA_ENST00000510361.1_Silent_p.S397S	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	445					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.S445S(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCTGTGCCTCGGTACATGGTG	0.597									Familial Paragangliomas				G|||	2	0.000399361	0.0015	0.0	5008	,	,		17972	0.0		0.0	False		,,,				2504	0.0					ENST00000264932.6																			1	Substitution - coding silent(1)	p.S445S(1)	breast(1)	NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1333-1335)tcG>tcT		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						73.0	67.0	69.0					5																	236617		2203	4300	6503	SO:0001819	synonymous_variant	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:236617G>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1335G>T	5.37:g.236617G>T						SDHA_ENST00000510361.1_Silent_p.S397S|SDHA_ENST00000504309.1_Silent_p.S445S	p.S445S	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		10	1450	+			445					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Silent	SNP	ENST00000264932.6	37	c.1335G>T	CCDS3853.1																																																																																				0.597	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		5	350	1	0	1.23904e-05	1	1.27957e-05	5	350				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		7	314	0	0	0	1	0	7	314				
DHX58	79132	broad.mit.edu	37	17	40263826	40263826	+	Missense_Mutation	SNP	C	C	T	rs377046797		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:40263826C>T	ENST00000251642.3	-	3	307	c.85G>A	c.(85-87)Ggg>Agg	p.G29R		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	29	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CGGGTCTTCCCGGCACCCGTG	0.592																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(85-87)Ggg>Agg		DEXH (Asp-Glu-X-His) box polypeptide 58		C	ARG/GLY	0,4406		0,0,2203	95.0	92.0	93.0		85	4.0	0.8	17		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHX58	NM_024119.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	29/679	40263826	1,13005	2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40263826C>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.85G>A	17.37:g.40263826C>T	ENSP00000251642:p.Gly29Arg						p.G29R	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	3	307	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	29			Helicase ATP-binding.		Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.85G>A	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089390	0.76756	0.0	1.16E-4	ENSG00000108771	ENST00000251642;ENST00000423748;ENST00000413196;ENST00000430773	D;D;D	0.95554	-3.23;-3.74;-3.74	4.99	4.02	0.46733	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	D	0.98673	0.9555	H	0.99169	4.455	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98660	1.0683	10	0.87932	D	0	-2.8477	12.3178	0.54966	0.0:0.9172:0.0:0.0828	.	29;29	B7Z455;Q96C10	.;DHX58_HUMAN	R	29	ENSP00000251642:G29R;ENSP00000416389:G29R;ENSP00000404639:G29R	ENSP00000251642:G29R	G	-	1	0	DHX58	37517352	1.000000	0.71417	0.836000	0.33094	0.493000	0.33554	5.333000	0.65917	1.348000	0.45733	0.455000	0.32223	GGG		0.592	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		6	477	0	0	0	1	0	6	477				
CRNN	49860	broad.mit.edu	37	1	152382863	152382863	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:152382863G>A	ENST00000271835.3	-	3	757	c.695C>T	c.(694-696)aCt>aTt	p.T232I	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	232	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGGTCTGAGTTCCAGATCC	0.572																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(694-696)aCt>aTt		cornulin							270.0	271.0	271.0					1																	152382863		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382863G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.695C>T	1.37:g.152382863G>A	ENSP00000271835:p.Thr232Ile					RP1-91G5.3_ENST00000411804.1_RNA	p.T232I	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	757	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		232			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.695C>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900907	0.33535	.	.	ENSG00000143536	ENST00000271835	T	0.05025	3.51	4.93	1.99	0.26369	.	0.507715	0.18383	N	0.142896	T	0.01254	0.0041	L	0.43923	1.385	0.09310	N	0.999999	P	0.43431	0.807	B	0.35470	0.203	T	0.46176	-0.9210	10	0.16896	T	0.51	.	4.0875	0.09953	0.1931:0.0:0.6221:0.1848	.	232	Q9UBG3	CRNN_HUMAN	I	232	ENSP00000271835:T232I	ENSP00000271835:T232I	T	-	2	0	CRNN	150649487	0.996000	0.38824	0.242000	0.24170	0.021000	0.10359	2.827000	0.48112	0.255000	0.21593	-0.237000	0.12165	ACT		0.572	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		186	812	0	0	0	1	0	186	812				
LRCH3	84859	broad.mit.edu	37	3	197544071	197544071	+	Silent	SNP	G	G	A			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:197544071G>A	ENST00000425562.2	+	3	432	c.432G>A	c.(430-432)ccG>ccA	p.P144P	LRCH3_ENST00000334859.4_Silent_p.P144P|LRCH3_ENST00000414675.2_Silent_p.P144P|LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000438796.2_Silent_p.P144P			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	144						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CAACATTGCCGGTACACTTGT	0.378																																						ENST00000438796.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(430-432)ccG>ccA		leucine-rich repeats and calponin homology (CH) domain containing 3							152.0	156.0	155.0					3																	197544071		2203	4300	6503	SO:0001819	synonymous_variant	84859					extracellular region		g.chr3:197544071G>A	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.432G>A	3.37:g.197544071G>A						LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000425562.2_Silent_p.P144P|LRCH3_ENST00000414675.2_Silent_p.P144P|LRCH3_ENST00000334859.4_Silent_p.P144P	p.P144P			Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	3	476	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		144					B4E0T7|Q96FP9|Q9NT52	Silent	SNP	ENST00000425562.2	37	c.432G>A																																																																																					0.378	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		5	512	0	0	0	1	0	5	512				
MICALL1	85377	broad.mit.edu	37	22	38327854	38327854	+	Missense_Mutation	SNP	T	T	C	rs553097612	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:38327854T>C	ENST00000215957.6	+	10	2056	c.1930T>C	c.(1930-1932)Tcc>Ccc	p.S644P	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	644	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ACCTGCAGCGTCCCCAGCCAC	0.582													T|||	1393	0.278155	0.2375	0.3141	5008	,	,		18779	0.3661		0.334	False		,,,				2504	0.1595					ENST00000215957.6																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(1930-1932)Tcc>Ccc		MICAL-like 1							87.0	88.0	88.0					22																	38327854		2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38327854T>C	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1930T>C	22.37:g.38327854T>C	ENSP00000215957:p.Ser644Pro					MICALL1_ENST00000402631.1_3'UTR	p.S644P	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			10	2056	+	Melanoma(58;0.045)		644			Pro-rich.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.1930T>C	CCDS13961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.17|18.17	3.564011|3.564011	0.65651|0.65651	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000215957;ENST00000402631|ENST00000454685	T;T|.	0.57907|.	0.37;1.85|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.209824|.	0.34603|.	N|.	0.003825|.	T|T	0.63022|0.63022	0.2476|0.2476	L|L	0.48362|0.48362	1.52|1.52	0.43234|0.43234	D|D	0.995137|0.995137	D|.	0.76494|.	0.999|.	D|.	0.68765|.	0.96|.	T|T	0.60378|0.60378	-0.7275|-0.7275	10|5	0.51188|.	T|.	0.08|.	.|.	15.6987|15.6987	0.77521|0.77521	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	644|.	Q8N3F8|.	MILK1_HUMAN|.	P|A	644;71|219	ENSP00000215957:S644P;ENSP00000384608:S71P|.	ENSP00000215957:S644P|.	S|V	+|+	1|2	0|0	MICALL1|MICALL1	36657800|36657800	0.993000|0.993000	0.37304|0.37304	0.933000|0.933000	0.37362|0.37362	0.661000|0.661000	0.39034|0.39034	2.312000|2.312000	0.43726|0.43726	2.115000|2.115000	0.64714|0.64714	0.482000|0.482000	0.46254|0.46254	TCC|GTC		0.582	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		8	459	0	0	0	1	0	8	459				
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-	rs549143666|rs377569778	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			13	532						13	532	---	---	---	---
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	lincRNA	INS	-	-	TG	rs370521196|rs376899040		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252																																						ENST00000428624.1																			0																																																			0							g.chr1:143391935_143391936insTG																													1.37:g.143391935_143391936insTG						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	INS	ENST00000428624.1	37																																																																																						0.252	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			22	35						22	35	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)gagdel	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2734-2736)del		trichohyalin																																				SO:0001651	inframe_deletion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082957_152082959delCTC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2734_2736delGAG	1.37:g.152082966_152082968delCTC	ENSP00000357794:p.Glu912del						p.E912del	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2733_2735	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		912			10 X 30 AA tandem repeats.		Q5VUI3	In_Frame_Del	DEL	ENST00000368804.1	37	c.2734_2736delGAG	CCDS41396.1																																																																																				0.586	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		10	1077						10	1077	---	---	---	---
CCDC181	57821	broad.mit.edu	37	1	169366580	169366580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:169366580delT	ENST00000367806.3	-	5	1417	c.1265delA	c.(1264-1266)aagfs	p.K422fs	CCDC181_ENST00000367805.3_Frame_Shift_Del_p.K421fs|CCDC181_ENST00000545005.1_Frame_Shift_Del_p.K421fs	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	422						nucleus (GO:0005634)											CTCTTCGTGCTTTTTTTTAAG	0.363																																						ENST00000545005.1																			0											c.(1261-1263)agfs		coiled-coil domain containing 181							138.0	117.0	124.0					1																	169366580		2203	4300	6503	SO:0001589	frameshift_variant	57821							g.chr1:169366580delT	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1265delA	1.37:g.169366580delT	ENSP00000356780:p.Lys422fs					CCDC181_ENST00000367805.3_Frame_Shift_Del_p.K421fs|CCDC181_ENST00000367806.3_Frame_Shift_Del_p.K422fs	p.K421fs							6	1769	-								O60780|Q53FD5|Q5TID9|Q8TC48	Frame_Shift_Del	DEL	ENST00000367806.3	37	c.1262delA																																																																																					0.363	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		8	263						8	263	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-	rs147596634		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:181680102_181680103delAG	ENST00000367573.2	+	8	1068_1069	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.E357fs	CACNA1E_ENST00000526775.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.E357fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	357					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.51																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1066-1071)aaagfs		calcium channel, voltage-dependent, R type, alpha 1E subunit			,,	161,3503		41,79,1712					,,	5.3	1.0		dbSNP_134	61	297,7585		52,193,3696	yes	frameshift,frameshift,frameshift	CACNA1E	NM_001205294.1,NM_001205293.1,NM_000721.3	,,	93,272,5408	A1A1,A1R,RR		3.7681,4.3941,3.9667	,,	,,		458,11088				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680102_181680103delAG	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1068_1069delAG	1.37:g.181680112_181680113delAG	ENSP00000356545:p.Glu357fs					CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs	p.KE356fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			8	1233_1234	+			356					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Del	DEL	ENST00000367573.2	37	c.1068_1069delAG	CCDS55664.1																																																																																				0.510	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		19	441						19	441	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237969493	237969494	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:237969493_237969494insT	ENST00000366574.2	+	99	14525_14526	c.14208_14209insT	c.(14209-14211)tttfs	p.F4737fs	RYR2_ENST00000360064.6_Frame_Shift_Ins_p.F4743fs|RYR2_ENST00000542537.1_Frame_Shift_Ins_p.F4721fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4737					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTATAACAACTTTTTTTTTGC	0.401																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14206-14211)aattttfs		ryanodine receptor 2 (cardiac)																																				SO:0001589	frameshift_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237969493_237969494insT	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14217dupT	1.37:g.237969502_237969502dupT	ENSP00000355533:p.Phe4737fs					RYR2_ENST00000360064.6_Frame_Shift_Ins_p.NF4742fs|RYR2_ENST00000542537.1_Frame_Shift_Ins_p.NF4720fs	p.NF4736fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		99	14525_14526	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4736					Q15411|Q546N8|Q5T3P2	Frame_Shift_Ins	INS	ENST00000366574.2	37	c.14208_14209insT	CCDS55691.1																																																																																				0.401	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	227						7	227	---	---	---	---
PLEK	5341	broad.mit.edu	37	2	68622834	68622834	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:68622834delC	ENST00000234313.7	+	9	1118	c.939delC	c.(937-939)aacfs	p.N313fs		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	313	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGGAAGAGAACCTTTTTGAGA	0.542																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(937-939)aafs		pleckstrin							153.0	138.0	143.0					2																	68622834		2203	4300	6503	SO:0001589	frameshift_variant	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68622834delC	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.939delC	2.37:g.68622834delC	ENSP00000234313:p.Asn313fs						p.N313fs	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	9	1118	+		Ovarian(717;0.0129)	313			PH 2.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Frame_Shift_Del	DEL	ENST00000234313.7	37	c.939delC	CCDS1887.1																																																																																				0.542	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		108	515						108	515	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-	rs368798001		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:96992793_96992795delGAG	ENST00000439118.2	+	3	675_677	c.424_426delGAG	c.(424-426)gagdel	p.E147del	ITPRIPL1_ENST00000361124.4_In_Frame_Del_p.E155del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(448-450)del		inositol 1,4,5-trisphosphate receptor interacting protein-like 1																																				SO:0001651	inframe_deletion	150771					integral to membrane		g.chr2:96992793_96992795delGAG		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.424_426delGAG	2.37:g.96992802_96992804delGAG	ENSP00000389308:p.Glu147del					ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del	p.E155del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	859_861	+			147					F5H1L8|Q8NE61	In_Frame_Del	DEL	ENST00000439118.2	37	c.448_450delGAG	CCDS46360.1																																																																																				0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		12	283						12	283	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)caafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2386-2388)cafs		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							43.0	37.0	39.0					2																	103149137		2203	4300	6503	SO:0001589	frameshift_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103149137delA		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2387delA	2.37:g.103149137delA	ENSP00000295269:p.Gln796fs						p.Q796fs	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			12	2844	+			796					Q69YK0	Frame_Shift_Del	DEL	ENST00000295269.4	37	c.2387delA	CCDS33264.1																																																																																				0.473	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		13	171						13	171	---	---	---	---
IKZF2	22807	broad.mit.edu	37	2	214012392	214012393	+	Intron	DEL	AC	AC	-	rs372594237		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:214012392_214012393delAC	ENST00000434687.1	-	4	449				IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000442445.1_Frame_Shift_Del_p.V66fs|IKZF2_ENST00000374327.4_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGCTGGAGAGACACACACACAC	0.401																																						ENST00000442445.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(196-198)cfs		IKAROS family zinc finger 2 (Helios)																																				SO:0001627	intron_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:214012392_214012393delAC	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.139+38GT>-	2.37:g.214012402_214012403delAC						IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000374327.4_Intron	p.V66fs			Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	3	253_254	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	0					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Frame_Shift_Del	DEL	ENST00000434687.1	37	c.196_197delGT	CCDS2395.1																																																																																				0.401	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		9	328						9	328	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		10	298						10	298	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	175_177	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		9	397						9	397	---	---	---	---
KAT2B	8850	broad.mit.edu	37	3	20113878	20113879	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:20113878_20113879insC	ENST00000263754.4	+	2	812_813	c.357_358insC	c.(358-360)cccfs	p.P120fs	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	120					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CCTCACCCACTCCCCCCAGAGC	0.45																																						ENST00000263754.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						c.(355-360)acccccfs		K(lysine) acetyltransferase 2B																																				SO:0001589	frameshift_variant	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20113878_20113879insC	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.363dupC	3.37:g.20113884_20113884dupC	ENSP00000263754:p.Pro120fs					KAT2B_ENST00000426228.1_3'UTR	p.TP119fs	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN			2	812_813	+			119					Q6NSK1	Frame_Shift_Ins	INS	ENST00000263754.4	37	c.357_358insC	CCDS2634.1																																																																																				0.450	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		7	691						7	691	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(538-543)gca>gc		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129546680_129546682delGCA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.540_542delTGC	3.37:g.129546689_129546691delGCA	ENSP00000376930:p.Ala181del					TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	p.AA180del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	880_882	-			180					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.540_542delTGC	CCDS33855.1																																																																																				0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		7	339						7	339	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400814	195400815	+	lincRNA	INS	-	-	TT	rs371598334		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	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			9	103						9	103	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr4:134073569_134073571delCTG	ENST00000264360.5	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	763	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2272-2277)ctc>ct		protocadherin 10																																				SO:0001651	inframe_deletion	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073569_134073571delCTG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2274_2276delCTG	4.37:g.134073578_134073580delCTG	ENSP00000264360:p.Cys763del						p.LC758del	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3100_3102	+			758			Cys-rich.		Q4W5F6|Q96SF0	In_Frame_Del	DEL	ENST00000264360.5	37	c.2274_2276delCTG	CCDS34063.1																																																																																				0.581	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		7	239						7	239	---	---	---	---
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-	rs561786759|rs369060686|rs200684951		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000231357.2_In_Frame_Del_p.E228del|IRX4_ENST00000513692.1_In_Frame_Del_p.E228del|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(682-687)ggg>g		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del	p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1139_1141	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		10	197						10	197	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-	rs376016449		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:32419951_32419953delGGT	ENST00000265069.8	-	3	495_497	c.393_395delACC	c.(391-396)ccaccc>ccc	p.131_132PP>P		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	131	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(391-396)ccc>cc		zinc finger RNA binding protein																																				SO:0001651	inframe_deletion	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32419951_32419953delGGT	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.393_395delACC	5.37:g.32419960_32419962delGGT	ENSP00000265069:p.Pro133del						p.PP131del	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	3	495_497	-			131			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	In_Frame_Del	DEL	ENST00000265069.8	37	c.393_395delACC	CCDS34139.1																																																																																				0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			9	861						9	861	---	---	---	---
GTF2H2B	653238	broad.mit.edu	37	5	69730714	69730715	+	RNA	INS	-	-	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:69730714_69730715insT	ENST00000513202.1	+	0	753					NR_033417.1				general transcription factor IIH, polypeptide 2B (pseudogene)																		CTATGAAGGTGTTTTTTTTTCC	0.322																																						ENST00000513202.1																			0																	31,3641		1,29,1806						1.3	0.0			103	24,7012		0,24,3494	no	intergenic				1,53,5300	A1A1,A1R,RR		0.3411,0.8442,0.5136				55,10653						0							g.chr5:69730714_69730715insT			5q13.2	2011-09-01	2011-09-01		ENSG00000226259	ENSG00000226259		"""General transcription factors"""	31393	pseudogene	pseudogene			"""general transcription factor IIH, polypeptide 2B"""				Standard	NR_033417		Approved	DKFZP686M0199	uc021yab.1		OTTHUMG00000162394		5.37:g.69730723_69730723dupT								NR_033417.1						0	753	+									RNA	INS	ENST00000513202.1	37																																																																																						0.322	GTF2H2B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396209.1	NM_001098729		10	308						10	308	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		9	288						9	288	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58.0	61.0	60.0			0.1	1.0	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		7	429						7	429	---	---	---	---
RAET1E-AS1	100652739	broad.mit.edu	37	6	150225646	150225649	+	RNA	DEL	CAAA	CAAA	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr6:150225646_150225649delCAAA	ENST00000606915.1	+	0	889				RAET1E-AS1_ENST00000605899.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA	NR_045126.1																						TGTGGCAAATCAAACAGAGCTGGA	0.559																																						ENST00000606915.1																			0																																																			0							g.chr6:150225646_150225649delCAAA																													6.37:g.150225646_150225649delCAAA						RP11-244K5.1_ENST00000446954.1_RNA|RP11-244K5.1_ENST00000605899.1_RNA		NR_045126.1						0	889	+									RNA	DEL	ENST00000606915.1	37																																																																																						0.559	RP11-244K5.8-001	KNOWN	basic	antisense	antisense	OTTHUMT00000470302.1			9	32						9	32	---	---	---	---
ZDHHC4	55146	broad.mit.edu	37	7	6621848	6621849	+	Frame_Shift_Ins	INS	-	-	T	rs34551853		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:6621848_6621849insT	ENST00000396706.2	+	5	779_780	c.336_337insT	c.(337-339)tttfs	p.F113fs	AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.F113fs			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	113						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.F115fs*3(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTGTAAACCTGTTTTTTTTCAC	0.45																																						ENST00000396706.2																			2	Deletion - Frameshift(2)	p.F115fs*3(2)	ovary(1)|large_intestine(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(334-339)ctttttfs		zinc finger, DHHC-type containing 4																																				SO:0001589	frameshift_variant	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6621848_6621849insT	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.344dupT	7.37:g.6621856_6621856dupT	ENSP00000379934:p.Phe113fs					ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.LF112fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.LF112fs	p.LF112fs			Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	5	779_780	+		Ovarian(82;0.232)	112					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Frame_Shift_Ins	INS	ENST00000396706.2	37	c.336_337insT	CCDS5352.1																																																																																				0.450	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		10	938						10	938	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C	rs372758218|rs376236342		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TCCCAAGGTGGGGGGCTGAGGA	0.564																																						ENST00000603901.1																			0																																																			0							g.chr7:142481996_142481997insC			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481996_142481997insC								NR_001296.3						0	591	+									RNA	INS	ENST00000603901.1	37																																																																																						0.564	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		14	114						14	114	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-	rs370076329		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGCAGTGCCCACATGGAGAAG	0.572																																						ENST00000603901.1																			0																																																			0							g.chr7:142482025delA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482025delA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		14	82						14	82	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-	rs555283914	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.360	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			9	439						9	439	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-	rs139076845		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGCTTTCCGGCTCCTCCTCCTCC	0.567																																						ENST00000396930.3																			0											c.(2977-2979)del		K(lysine) acetyltransferase 6A																																				SO:0001651	inframe_deletion	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798420_41798422delCTC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2977_2979delGAG	8.37:g.41798429_41798431delCTC	ENSP00000380136:p.Glu993del					KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			16	3520_3522	-			993			Poly-Glu.		Q76L81	In_Frame_Del	DEL	ENST00000396930.3	37	c.2977_2979delGAG	CCDS6124.1																																																																																				0.567	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		9	700						9	700	---	---	---	---
PCMTD1	115294	broad.mit.edu	37	8	52733063	52733063	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr8:52733063delT	ENST00000360540.5	-	7	1328	c.922delA	c.(922-924)atgfs	p.M308fs	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Frame_Shift_Del_p.M308fs|PCMTD1_ENST00000544451.1_Frame_Shift_Del_p.M232fs	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	308						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				tcctcttccattttttcatcc	0.373																																						ENST00000360540.5																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(922-924)tgfs		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							102.0	88.0	92.0					8																	52733063		2203	4300	6503	SO:0001589	frameshift_variant	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733063delT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.922delA	8.37:g.52733063delT	ENSP00000353739:p.Met308fs					PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Frame_Shift_Del_p.M308fs|PCMTD1_ENST00000544451.1_Frame_Shift_Del_p.M232fs	p.M308fs	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN			7	1328	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	308					Q96FK9	Frame_Shift_Del	DEL	ENST00000360540.5	37	c.922delA	CCDS6148.1																																																																																				0.373	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		14	359						14	359	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)cctfs	p.P341fs	SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1021-1023)ccfs		sulfatase 1							396.0	343.0	361.0					8																	70514026		2203	4300	6503	SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70514026delT	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1023delT	8.37:g.70514026delT	ENSP00000260128:p.Pro341fs					SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs	p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		10	1740	+	Breast(64;0.0654)		341					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Del	DEL	ENST00000260128.4	37	c.1023delT	CCDS6204.1																																																																																				0.408	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		8	1071						8	1071	---	---	---	---
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	CAG	-	rs61752959	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr8:128750605_128750607delCAG	ENST00000259523.6	+	2	1302_1304	c.97_99delCAG	c.(97-99)cagdel	p.Q37del	MYC_ENST00000524013.1_In_Frame_Del_p.Q51del|MYC_ENST00000377970.2_In_Frame_Del_p.Q52del			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	37	Poly-Gln.				branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		1	Substitution - Missense(1)	p.Q33H(1)	skin(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(142-144)del		v-myc avian myelocytomatosis viral oncogene homolog																																				SO:0001651	inframe_deletion	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750605_128750607delCAG		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.97_99delCAG	8.37:g.128750614_128750616delCAG	ENSP00000259523:p.Gln37del		OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_ENST00000259523.6_In_Frame_Del_p.Q37del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del	p.Q52del	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	2	652_654	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	37					A8WFE7|P01107|Q14026	In_Frame_Del	DEL	ENST00000259523.6	37	c.142_144delCAG																																																																																					0.611	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			7	304						7	304	---	---	---	---
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-	rs552049497|rs141816879		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)caccat>cat	p.207_208HH>H	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)																												ENST00000333480.2																			3	Deletion - In frame(3)	p.H208delH(3)	upper_aerodigestive_tract(2)|breast(1)	breast(1)|lung(1)|upper_aerodigestive_tract(2)	4						c.(619-624)cat>ca		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A																																				SO:0001651	inframe_deletion	389692				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:144511954_144511956delTGG	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.621_623delCCA	8.37:g.144511963_144511965delTGG	ENSP00000328364:p.His208del	HNSCC(29;0.082)				MAFA_ENST00000528185.1_5'UTR	p.HH207del	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)		1	620_622	-	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		207			His-rich.			In_Frame_Del	DEL	ENST00000333480.2	37	c.621_623delCCA	CCDS34955.1																																																																																				0.744	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2	NM_201589		11	17						11	17	---	---	---	---
AQP7	364	broad.mit.edu	37	9	33385689	33385690	+	Frame_Shift_Ins	INS	-	-	G	rs369644615|rs3215969|rs139024279		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:33385689_33385690insG	ENST00000537089.1	-	6	742_743	c.424_425insC	c.(424-426)cgcfs	p.R142fs	AQP7_ENST00000541274.1_Frame_Shift_Ins_p.P102fs|AQP7_ENST00000377425.4_Frame_Shift_Ins_p.R177fs|AQP7_ENST00000539936.1_Frame_Shift_Ins_p.R234fs			O14520	AQP7_HUMAN	aquaporin 7	234					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)	p.R234fs*35(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGTGAAGATGCGGGGGGGCAGG	0.579																																						ENST00000537089.1																			1	Insertion - Frameshift(1)	p.R234fs*35(1)	lung(1)	NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(424-426)catfs		aquaporin 7																																				SO:0001589	frameshift_variant	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385689_33385690insG	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.425dupC	9.37:g.33385696_33385696dupG	ENSP00000441619:p.Arg142fs					AQP7_ENST00000377425.4_Frame_Shift_Ins_p.H177fs|AQP7_ENST00000541274.1_Frame_Shift_Ins_p.P102fs|AQP7_ENST00000539936.1_Frame_Shift_Ins_p.H234fs	p.H142fs			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	6	742_743	-			234					Q08E94|Q5T5L9|Q8NHM3	Frame_Shift_Ins	INS	ENST00000537089.1	37	c.424_425insC																																																																																					0.579	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		7	707						7	707	---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116246504	116246506	+	In_Frame_Del	DEL	CTT	CTT	-	rs559478157		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:116246504_116246506delCTT	ENST00000374140.2	+	7	821_823	c.612_614delCTT	c.(610-615)cacttc>cac	p.F207del	RGS3_ENST00000317613.6_In_Frame_Del_p.F95del|RGS3_ENST00000350696.5_In_Frame_Del_p.F207del	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	207	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACGAGCACTTCTTCTTGTAA	0.473																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(610-615)cac>ca		regulator of G-protein signaling 3																																				SO:0001651	inframe_deletion	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116246504_116246506delCTT	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.612_614delCTT	9.37:g.116246510_116246512delCTT	ENSP00000363255:p.Phe207del					RGS3_ENST00000317613.6_In_Frame_Del_p.HF92del|RGS3_ENST00000350696.5_In_Frame_Del_p.HF204del	p.HF204del	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			7	821_823	+			204			C2.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	In_Frame_Del	DEL	ENST00000374140.2	37	c.612_614delCTT	CCDS43869.1																																																																																				0.473	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		13	408						13	408	---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	116918267	116918269	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:116918267_116918269delGCG	ENST00000356083.3	+	1	428_430	c.37_39delGCG	c.(37-39)gcgdel	p.A18del		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	18					extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ccgaggcacagcggcggcggcgg	0.768																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(37-39)del		collagen, type XXVII, alpha 1				52,1722		7,38,842						1.8	1.0			10	106,4640		11,84,2278	no	coding	COL27A1	NM_032888.2		18,122,3120	A1A1,A1R,RR		2.2335,2.9312,2.4233				158,6362				SO:0001651	inframe_deletion	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116918267_116918269delGCG	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.37_39delGCG	9.37:g.116918276_116918278delGCG	ENSP00000348385:p.Ala18del						p.A18del	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			1	428_430	+			18					Q66K43|Q96JF7	In_Frame_Del	DEL	ENST00000356083.3	37	c.37_39delGCG	CCDS6802.1																																																																																				0.768	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		8	125						8	125	---	---	---	---
C9orf173	441476	broad.mit.edu	37	9	140146549	140146550	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:140146549_140146550insC	ENST00000412566.1	+	3	374_375	c.365_366insC	c.(364-369)caccccfs	p.HP122fs	C9orf173_ENST00000388931.3_Frame_Shift_Ins_p.HP122fs			Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	122										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						TCCTCCCCACACCCCCACTACA	0.678																																						ENST00000388931.3																			0				kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						c.(364-366)cccfs		chromosome 9 open reading frame 173																																				SO:0001589	frameshift_variant	441476							g.chr9:140146549_140146550insC		CCDS48065.1, CCDS59156.1, CCDS75940.1, CCDS75941.1	9q34.3	2009-10-02			ENSG00000197768	ENSG00000197768			37285	protein-coding gene	gene with protein product							Standard	NM_001256699		Approved	FLJ40246	uc004cmk.2	Q8N7X2		ENST00000412566.1:c.370dupC	9.37:g.140146554_140146554dupC	ENSP00000391218:p.His122fs					C9orf173_ENST00000412566.1_Frame_Shift_Ins_p.P122fs	p.P122fs	NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1	NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1	Q8N7X2	CI173_HUMAN			3	391_392	+			122					A2RU24|B7ZM72|B7ZM76|Q8NEA3	Frame_Shift_Ins	INS	ENST00000412566.1	37	c.365_366insC	CCDS48065.1																																																																																				0.678	C9orf173-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004353		49	295						49	295	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27324564	27324565	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:27324564_27324565insT	ENST00000376087.4	-	24	2979_2980	c.2814_2815insA	c.(2812-2817)aaagaafs	p.E939fs	ANKRD26_ENST00000376070.3_Frame_Shift_Ins_p.E496fs|ANKRD26_ENST00000436985.2_Frame_Shift_Ins_p.E955fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	938					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CATTTCTTTTCTTTTTCCTGGT	0.297																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(2812-2817)aaaaaafs		ankyrin repeat domain 26																																				SO:0001589	frameshift_variant	22852					centrosome		g.chr10:27324564_27324565insT	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2815dupA	10.37:g.27324569_27324569dupT	ENSP00000365255:p.Glu939fs					ANKRD26_ENST00000436985.2_Frame_Shift_Ins_p.KK954fs|ANKRD26_ENST00000376070.3_Frame_Shift_Ins_p.KK495fs	p.KK938fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			24	2979_2980	-			937					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Frame_Shift_Ins	INS	ENST00000376087.4	37	c.2814_2815insA	CCDS41499.1																																																																																				0.297	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			26	145						26	145	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:61828745_61828747delGTG	ENST00000280772.2	-	37	12083_12085	c.11892_11894delCAC	c.(11890-11895)accact>act	p.3964_3965TT>T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3964	Thr-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11890-11895)act>ac		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001651	inframe_deletion	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828745_61828747delGTG	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11892_11894delCAC	10.37:g.61828754_61828756delGTG	ENSP00000280772:p.Thr3965del					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.TT3964del	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12083_12085	-			3964			Thr-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	In_Frame_Del	DEL	ENST00000280772.2	37	c.11892_11894delCAC	CCDS7258.1																																																																																				0.498	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		7	471						7	471	---	---	---	---
CUEDC2	79004	broad.mit.edu	37	10	104184037	104184039	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:104184037_104184039delGCA	ENST00000369937.4	-	5	538_540	c.393_395delTGC	c.(391-396)gctgca>gca	p.131_132AA>A	CUEDC2_ENST00000465409.1_5'UTR|PSD_ENST00000492902.2_5'Flank	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	131						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TTGGGTGTCTGCAGCAGCAGCAG	0.581																																						ENST00000369937.4																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(391-396)gca>gc		CUE domain containing 2																																				SO:0001651	inframe_deletion	79004					cytoplasm|nucleus	protein binding	g.chr10:104184037_104184039delGCA	BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"""chromosome 10 open reading frame 66"""	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.393_395delTGC	10.37:g.104184046_104184048delGCA	ENSP00000358953:p.Ala132del					CUEDC2_ENST00000465409.1_5'UTR	p.AA131del	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	5	538_540	-		Colorectal(252;0.122)	131					D3DR88|Q9BWG8	In_Frame_Del	DEL	ENST00000369937.4	37	c.393_395delTGC	CCDS41566.1																																																																																				0.581	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050060.1	NM_024040		10	548						10	548	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1174-1176)del		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_ENST00000368854.3_5'UTR	p.L392del	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1328_1330	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		9	839						9	839	---	---	---	---
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	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	596						7	596	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19901475	19901477	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:19901475_19901477delAGC	ENST00000396087.3	+	5	671_673	c.572_574delAGC	c.(571-576)aagcag>aag	p.Q196del	NAV2_ENST00000396085.1_In_Frame_Del_p.Q196del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000360655.4_In_Frame_Del_p.Q132del|NAV2_ENST00000527559.2_In_Frame_Del_p.Q125del|NAV2_ENST00000349880.4_In_Frame_Del_p.Q196del|NAV2_ENST00000540292.1_In_Frame_Del_p.Q127del	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_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|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del	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		9	509						9	509	---	---	---	---
KBTBD4	55709	broad.mit.edu	37	11	47599139	47599139	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:47599139delA	ENST00000526005.1	-	2	566	c.413delT	c.(412-414)ttgfs	p.L138fs	RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000450908.1_5'Flank|KBTBD4_ENST00000533290.1_Frame_Shift_Del_p.L163fs|NDUFS3_ENST00000263774.4_5'Flank|NDUFS3_ENST00000534716.2_5'Flank|NDUFS3_ENST00000529276.1_5'Flank|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|NDUFS3_ENST00000534208.1_5'Flank|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs|NDUFS3_ENST00000528192.1_5'Flank|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	138										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TGTGCGGGCCAAAAACCGAGA	0.517																																						ENST00000533290.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(487-489)tgfs		kelch repeat and BTB (POZ) domain containing 4							174.0	172.0	173.0					11																	47599139		2201	4298	6499	SO:0001589	frameshift_variant	55709							g.chr11:47599139delA	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.413delT	11.37:g.47599139delA	ENSP00000433340:p.Leu138fs					KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L138fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs	p.L163fs			Q9NVX7	KBTB4_HUMAN			1	1202	-			138			BACK.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Frame_Shift_Del	DEL	ENST00000526005.1	37	c.488delT	CCDS7940.1																																																																																				0.517	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		7	932						7	932	---	---	---	---
MRPL49	740	broad.mit.edu	37	11	64888248	64888250	+	5'Flank	DEL	TCT	TCT	-	rs1065065		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:64888248_64888250delTCT	ENST00000279242.2	+	0	0				MRPL49_ENST00000531705.1_5'Flank|FAU_ENST00000529639.1_In_Frame_Del_p.K102del|MRPL49_ENST00000526171.1_5'Flank|FAU_ENST00000529259.1_3'UTR|MRPL49_ENST00000534078.1_5'Flank|FAU_ENST00000531743.1_In_Frame_Del_p.K102del|FAU_ENST00000525297.1_In_Frame_Del_p.K67del|FAU_ENST00000279259.3_In_Frame_Del_p.E83del|FAU_ENST00000527548.1_In_Frame_Del_p.K102del	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						GCCCGACCTGTCTTCTTCTTCTT	0.542																																						ENST00000529639.1																			0				NS(3)|kidney(1)|large_intestine(2)	6						c.(304-309)aca>a		Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed																																				SO:0001631	upstream_gene_variant	2197							g.chr11:64888248_64888250delTCT		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64888257_64888259delTCT	Exception_encountered					FAU_ENST00000529259.1_3'UTR|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del	p.KT102del	NM_001997.4	NP_001988.1	P35544	UBIM_HUMAN			5	696_698	-			0					B2R4G6	In_Frame_Del	DEL	ENST00000279242.2	37	c.305_307delAGA	CCDS8096.1																																																																																				0.542	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		10	728						10	728	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108382677	108382678	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:108382677_108382678insG	ENST00000265843.4	-	6	3666_3667	c.3556_3557insC	c.(3556-3558)caafs	p.Q1186fs	EXPH5_ENST00000525344.1_Frame_Shift_Ins_p.Q1179fs|EXPH5_ENST00000428840.1_Frame_Shift_Ins_p.Q1110fs|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Frame_Shift_Ins_p.Q998fs	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1186					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGTGTATTCTTGGAAGTTTTCC	0.416																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(3556-3558)agafs		exophilin 5																																				SO:0001589	frameshift_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382677_108382678insG		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3557dupC	11.37:g.108382679_108382679dupG	ENSP00000265843:p.Gln1186fs					EXPH5_ENST00000428840.1_Frame_Shift_Ins_p.R1110fs|EXPH5_ENST00000443411.1_Frame_Shift_Ins_p.R998fs|EXPH5_ENST00000525344.1_Frame_Shift_Ins_p.R1179fs	p.R1186fs	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3666_3667	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1186					Q2KHM1|Q9Y4D6	Frame_Shift_Ins	INS	ENST00000265843.4	37	c.3556_3557insC	CCDS8341.1																																																																																				0.416	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		91	487						91	487	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:108788635_108788637delTGA	ENST00000322536.3	+	17	2469_2471	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000526794.1_In_Frame_Del_p.D788del	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(2338-2343)agt>ag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				25,260,77,3902		0,2,0,23,4,0,250,5,67,1781						4.9	1.0			85	14,28,155,8057		0,0,0,14,0,0,28,12,131,3942	no	codingComplex	DDX10	NM_004398.2		0,2,0,37,4,0,278,17,198,5723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.3867,8.4897,4.4656				39,288,232,11959				SO:0001651	inframe_deletion	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788635_108788637delTGA	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2340_2342delTGA	11.37:g.108788644_108788646delTGA	ENSP00000314348:p.Asp788del					DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del	p.SD780del			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2372_2374	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	780					B2RCQ3|Q5BJD8	In_Frame_Del	DEL	ENST00000322536.3	37	c.2340_2342delTGA	CCDS8342.1																																																																																				0.355	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		11	358						11	358	---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G	rs200755405		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:118629613_118629614insG	ENST00000526070.2	-	9	1225		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000264018.4_Splice_Site	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.e9-2		DEAD (Asp-Glu-Ala-Asp) box helicase 6				28,3478		0,28,1725						5.8	1.0			104	55,7749		0,55,3847	no	splice-3	DDX6	NM_004397.4		0,83,5572	A1A1,A1R,RR		0.7048,0.7986,0.7339				83,11227				SO:0001630	splice_region_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118629613_118629614insG	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.865-2->C	11.37:g.118629621_118629621dupG						DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site		NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	9	1170	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)						Q5D048	Splice_Site	INS	ENST00000526070.2	37		CCDS44751.1																																																																																				0.426	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	Intron	11	683						11	683	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:46320707_46320708delTC	ENST00000369367.3	-	11	3009_3010	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_ENST00000465950.1_Frame_Shift_Del_p.E611fs|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1831-1833)afs		SR-related CTD-associated factor 11																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320707_46320708delTC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2776_2777delGA	12.37:g.46320717_46320718delTC	ENSP00000358374:p.Glu926fs					SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs	p.E611fs			Q99590	SCAFB_HUMAN			1	3040_3041	-			926					A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Del	DEL	ENST00000369367.3	37	c.1831_1832delGA	CCDS8748.2																																																																																				0.446	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		12	868						12	868	---	---	---	---
MBD6	114785	broad.mit.edu	37	12	57919654	57919666	+	Frame_Shift_Del	DEL	GGGGCCCCTGGGA	GGGGCCCCTGGGA	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:57919654_57919666delGGGGCCCCTGGGA	ENST00000355673.3	+	6	1259_1271	c.903_915delGGGGCCCCTGGGA	c.(901-915)ctggggcccctgggafs	p.LGPLG301fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.LGPLG301fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	301	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCTGGTCCTGGGGCCCCTGGGAGGGGCCCCCA	0.695																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(901-915)ctfs		methyl-CpG binding domain protein 6																																				SO:0001589	frameshift_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919654_57919666delGGGGCCCCTGGGA	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.903_915delGGGGCCCCTGGGA	12.37:g.57919654_57919666delGGGGCCCCTGGGA	ENSP00000347896:p.Leu301fs					MBD6_ENST00000431731.2_Frame_Shift_Del_p.LGPLG301fs	p.LGPLG301fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			6	1259_1271	+			301			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Del	DEL	ENST00000355673.3	37	c.903_915delGGGGCCCCTGGGA	CCDS8944.1																																																																																				0.695	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			30	276						30	276	---	---	---	---
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A	rs199863727	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:66531936_66531937insA	ENST00000358230.3	-	7	640_641	c.520_521insT	c.(520-522)tatfs	p.Y174fs	TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.I159fs|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.Y221fs|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.Y143fs|TMBIM4_ENST00000556010.1_Intron	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	174					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351																																						ENST00000358230.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9						c.(520-522)tagfs		transmembrane BAX inhibitor motif containing 4																																				SO:0001589	frameshift_variant	51643					integral to membrane	protein binding	g.chr12:66531936_66531937insA	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.521dupT	12.37:g.66531946_66531946dupA	ENSP00000350965:p.Tyr174fs					TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs	p.*174fs	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	7	640_641	-			174					Q542Z6|Q9UHY5|Q9Y3C2	Frame_Shift_Ins	INS	ENST00000358230.3	37	c.520_521insT	CCDS41805.1																																																																																				0.351	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056		10	228						10	228	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120595737	120595739	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:120595737_120595739delCTC	ENST00000300648.6	-	26	3013_3015	c.3001_3003delGAG	c.(3001-3003)gagdel	p.E1001del	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1001					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCCATCCACTCCTCCTCCTCC	0.631																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(3001-3003)del		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)																																				SO:0001651	inframe_deletion	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120595737_120595739delCTC	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3001_3003delGAG	12.37:g.120595746_120595748delCTC	ENSP00000300648:p.Glu1001del						p.E1001del	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			26	3013_3015	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1001					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	In_Frame_Del	DEL	ENST00000300648.6	37	c.3001_3003delGAG	CCDS41847.1																																																																																				0.631	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			7	322						7	322	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:122812690_122812691insT	ENST00000540338.1	-	16	3093_3094	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3019-3021)ccafs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812690_122812691insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3053dupA	12.37:g.122812692_122812692dupT	ENSP00000439093:p.Ser1018fs					CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs	p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3173_3174	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1018					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3019_3020insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		7	671						7	671	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25541678	25541679	+	RNA	INS	-	-	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:25541678_25541679insT	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		GTTGAtttttcttttttttgag	0.391																																						ENST00000429698.1																			0																																																			0							g.chr13:25541678_25541679insT			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25541686_25541686dupT														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.391	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			7	19						7	19	---	---	---	---
HSPH1	10808	broad.mit.edu	37	13	31715381	31715382	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:31715381_31715382insT	ENST00000320027.5	-	13	2075_2076	c.1731_1732insA	c.(1729-1734)aaagttfs	p.V578fs	HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.V580fs|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.V537fs|HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.V397fs|HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.V534fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	578					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGCTGGTCAACTTTTTTTTCAT	0.376																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1729-1734)aattgafs		heat shock 105kDa/110kDa protein 1																																				SO:0001589	frameshift_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31715381_31715382insT	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1732dupA	13.37:g.31715389_31715389dupT	ENSP00000318687:p.Val578fs					HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N*533fs|HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.N*396fs|HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N*579fs|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N*536fs	p.N*577fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	13	2075_2076	-		Lung SC(185;0.0257)	577					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Frame_Shift_Ins	INS	ENST00000320027.5	37	c.1731_1732insA	CCDS9340.1																																																																																				0.376	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			7	495						7	495	---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33344888	33344888	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:33344888delA	ENST00000315596.10	+	33	4347	c.4161delA	c.(4159-4161)ccafs	p.P1387fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1387					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.N1390fs*4(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CATCACAACCAAAAAAAAATG	0.338																																						ENST00000315596.10																			1	Deletion - Frameshift(1)	p.N1390fs*4(1)	ovary(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(4159-4161)ccfs		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)				50,3556		4,42,1757	60.0	59.0	59.0			3.9	0.9	13		62	127,7729		0,127,3801	no	frameshift	PDS5B	NM_015032.3		4,169,5558	A1A1,A1R,RR		1.6166,1.3866,1.5442			33344888	177,11285	1876	4103	5979	SO:0001589	frameshift_variant	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33344888delA	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.4161delA	13.37:g.33344888delA	ENSP00000313851:p.Pro1387fs						p.P1387fs	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	33	4347	+		Lung SC(185;0.0367)	1387					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Frame_Shift_Del	DEL	ENST00000315596.10	37	c.4161delA	CCDS41878.1																																																																																				0.338	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		7	92						7	92	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-	rs112613609		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1501-1506)caa>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148706_45148708delTGC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1503_1505delGCA	13.37:g.45148715_45148717delTGC	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1993_1995	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	507			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1503_1505delGCA	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		13	461						13	461	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.G481del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	722					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2149-2154)tac>ta		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88329794_88329796delCGG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2151_2153delCGG	13.37:g.88329803_88329805delCGG	ENSP00000366283:p.Gly722del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	p.YG717del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2370_2372	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		717					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2151_2153delCGG	CCDS9465.1																																																																																				0.645	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	343						8	343	---	---	---	---
ELMSAN1	91748	broad.mit.edu	37	14	74205954	74205956	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:74205954_74205956delTGC	ENST00000286523.5	-	2	1538_1540	c.756_758delGCA	c.(754-759)cagcaa>caa	p.252_253QQ>Q	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.252_253QQ>Q|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	252	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										ctgctgtggttgctgctgctgct	0.645																																						ENST00000286523.5																			0											c.(754-759)caa>ca		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205954_74205956delTGC	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.756_758delGCA	14.37:g.74205963_74205965delTGC	ENSP00000286523:p.Gln253del					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.QQ252del	p.QQ252del	NM_194278.3	NP_919254.2					2	1538_1540	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.756_758delGCA	CCDS9819.1																																																																																				0.645	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		7	148						7	148	---	---	---	---
GPR65	8477	broad.mit.edu	37	14	88477554	88477555	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:88477554_88477555insT	ENST00000267549.3	+	2	921_922	c.363_364insT	c.(364-366)tttfs	p.F122fs	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	122					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ACCCTTTGAAGTTTTTTTTCCT	0.426																																						ENST00000267549.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(361-366)aattttfs		G protein-coupled receptor 65																																				SO:0001589	frameshift_variant	0				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477554_88477555insT	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.371dupT	14.37:g.88477562_88477562dupT	ENSP00000267549:p.Phe122fs					RP11-300J18.2_ENST00000554433.1_RNA	p.NF121fs	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN			2	921_922	+			121					O75819	Frame_Shift_Ins	INS	ENST00000267549.3	37	c.363_364insT	CCDS9879.1																																																																																				0.426	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			10	1054						10	1054	---	---	---	---
CNGB1	1258	broad.mit.edu	37	16	57983275	57983277	+	In_Frame_Del	DEL	TCC	TCC	-	rs141566950|rs528199212		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:57983275_57983277delTCC	ENST00000251102.8	-	14	1161_1163	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	CNGB1_ENST00000564654.1_5'Flank|CNGB1_ENST00000564448.1_In_Frame_Del_p.361_362EE>E	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	367	Poly-Glu.				cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ctcctcctcttcctcctcctcct	0.586																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(1081-1086)gaa>ga		cyclic nucleotide gated channel beta 1				50,422,3678		24,0,2,33,356,1660						-4.3	0.1		dbSNP_134	89	253,4,7879		123,0,7,0,4,3934	no	codingComplex	CNGB1	NM_001297.4		147,0,9,33,360,5594	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1588,11.3735,5.9336				303,426,11557				SO:0001651	inframe_deletion	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57983275_57983277delTCC	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1101_1103delGGA	16.37:g.57983284_57983286delTCC	ENSP00000251102:p.Glu371del					CNGB1_ENST00000251102.8_In_Frame_Del_p.EE369del	p.EE363del			Q14028	CNGB1_HUMAN			14	1143_1145	-			369			Poly-Glu.		H3BN09|O43636|Q13059|Q14029|Q9UMG2	In_Frame_Del	DEL	ENST00000251102.8	37	c.1083_1085delGGA	CCDS42169.1																																																																																				0.586	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		9	214						9	214	---	---	---	---
CTRL	1506	broad.mit.edu	37	16	67963919	67963919	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:67963919delT	ENST00000574481.1	-	7	1274	c.713delA	c.(712-714)aacfs	p.N238fs	CTRL_ENST00000576408.1_5'Flank	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552																																						ENST00000574481.1																			0				kidney(1)|large_intestine(2)|urinary_tract(1)	4						c.(712-714)acfs		chymotrypsin-like							139.0	137.0	138.0					16																	67963919		2198	4300	6498	SO:0001589	frameshift_variant	1506				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:67963919delT		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.713delA	16.37:g.67963919delT	ENSP00000458537:p.Asn238fs						p.N238fs	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	7	1274	-		Ovarian(137;0.192)	238			Peptidase S1.			Frame_Shift_Del	DEL	ENST00000574481.1	37	c.713delA	CCDS10852.1																																																																																				0.552	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			12	556						12	556	---	---	---	---
CHRNB1	1140	broad.mit.edu	37	17	7357666	7357668	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:7357666_7357668delCTG	ENST00000306071.2	+	8	938_940	c.871_873delCTG	c.(871-873)ctgdel	p.L294del	CHRNB1_ENST00000575379.1_5'Flank|CHRNB1_ENST00000536404.2_In_Frame_Del_p.L222del|CHRNB1_ENST00000576360.1_Intron	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	294					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TACTGTGTTCCTGCTGCTGCTGG	0.498																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(871-873)del		cholinergic receptor, nicotinic, beta 1 (muscle)																																				SO:0001651	inframe_deletion	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7357666_7357668delCTG	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.871_873delCTG	17.37:g.7357675_7357677delCTG	ENSP00000304290:p.Leu294del					CHRNB1_ENST00000576360.1_Intron|CHRNB1_ENST00000536404.2_In_Frame_Del_p.L222del	p.L294del	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN			8	938_940	+		Prostate(122;0.157)	294					B7Z5H1|Q8IZ46|Q96FB8	In_Frame_Del	DEL	ENST00000306071.2	37	c.871_873delCTG	CCDS11106.1																																																																																				0.498	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			7	721						7	721	---	---	---	---
WRAP53	55135	broad.mit.edu	37	17	7606722	7606722	+	Frame_Shift_Del	DEL	C	C	-	rs7640|rs373064567	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:7606722delC	ENST00000316024.5	+	10	3913	c.1565delC	c.(1564-1566)gcgfs	p.A522fs	EFNB3_ENST00000226091.2_5'Flank|WRAP53_ENST00000457584.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000396463.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000534050.1_Frame_Shift_Del_p.A489fs|WRAP53_ENST00000431639.2_Frame_Shift_Del_p.A522fs			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	522			A -> G (in dbSNP:rs7640). {ECO:0000269|PubMed:21205863}.		positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)	p.A522G(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TGTGGGGGGGCGCCAGACTCC	0.582																																						ENST00000316024.5																			1	Substitution - Missense(1)	p.A522G(1)	stomach(1)	endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						c.(1564-1566)ggfs		WD repeat containing, antisense to TP53							47.0	48.0	48.0					17																	7606722		2203	4300	6503	SO:0001589	frameshift_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7606722delC	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1565delC	17.37:g.7606722delC	ENSP00000324203:p.Ala522fs					WRAP53_ENST00000431639.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000457584.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000396463.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000534050.1_Frame_Shift_Del_p.A489fs	p.A522fs			Q9BUR4	WAP53_HUMAN			10	3913	+			522		A -> G (in dbSNP:rs7640).			B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Frame_Shift_Del	DEL	ENST00000316024.5	37	c.1565delC	CCDS11119.1																																																																																				0.582	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		8	237						8	237	---	---	---	---
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		8	567						8	567	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)agcdel	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4573-4575)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027202_27027204delAGC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4573_4575delAGC	17.37:g.27027211_27027213delAGC	ENSP00000319104:p.Ser1528del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			34	4856_4858	+	Lung NSC(42;0.00431)		1528			Poly-Ser.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.4573_4575delAGC	CCDS32596.1																																																																																				0.537	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		7	1188						7	1188	---	---	---	---
LRRC37A11P	342666	broad.mit.edu	37	17	37209433	37209433	+	RNA	DEL	T	T	-	rs202219289		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:37209433delT	ENST00000425901.2	+	0	3555					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		CAAATCTCtatttttttttta	0.358																																						ENST00000425901.2																			0																																																			0							g.chr17:37209433delT			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37209433delT								NR_033753.2						0	3555	+									RNA	DEL	ENST00000425901.2	37																																																																																						0.358	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		3	4						3	4	---	---	---	---
COIL	8161	broad.mit.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:55028016delT	ENST00000240316.4	-	2	621	c.587delA	c.(586-588)aagfs	p.K196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	196	Lys-rich (basic).					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(586-588)agfs		coilin							141.0	132.0	135.0					17																	55028016		2203	4300	6503	SO:0001589	frameshift_variant	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55028016delT	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.587delA	17.37:g.55028016delT	ENSP00000240316:p.Lys196fs						p.K196fs	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	621	-	Breast(9;6.15e-08)		196			Lys-rich (basic).		B2R931	Frame_Shift_Del	DEL	ENST00000240316.4	37	c.587delA	CCDS11592.1																																																																																				0.393	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			7	636						7	636	---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:76046980delA	ENST00000588061.1	+	5	2564	c.1837delA	c.(1837-1839)aaafs	p.K614fs	TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|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 gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1837-1839)aafs		trinucleotide repeat containing 6C			,	8,3764		1,6,1879	77.0	78.0	78.0		,	-0.2	0.8	17	dbSNP_130	79	42,7894		10,22,3936	no	frameshift,frameshift	TNRC6C	NM_018996.3,NM_001142640.1	,	11,28,5815	A1A1,A1R,RR		0.5292,0.2121,0.4271	,	,	76046980	50,11658	1966	4142	6108	SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046980delA	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1837delA	17.37:g.76046980delA	ENSP00000468647:p.Lys614fs					TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs	p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2406	+			614			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	c.1837delA	CCDS45798.1																																																																																				0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		8	454						8	454	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs199734221		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr18:112519_112520insA	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCAGCTCCCCCGGGGCCTCCGT	0.53																																						ENST00000576266.1																			0																																																			0							g.chr18:112519_112520insA			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112519_112520insA														0	153_154	+									RNA	INS	ENST00000608049.1	37																																																																																						0.530	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			7	78						7	78	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		9	265						9	265	---	---	---	---
LMAN1	3998	broad.mit.edu	37	18	57013193	57013194	+	Frame_Shift_Ins	INS	-	-	T	rs553350987		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr18:57013193_57013194insT	ENST00000251047.5	-	8	1629_1630	c.912_913insA	c.(910-915)aaagagfs	p.E305fs	LMAN1_ENST00000587940.1_5'Flank	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	305					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGAATTCCTCTTTTTTTTTAT	0.455																																						ENST00000251047.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	GRCh37	CI992039	LMAN1	I		c.(910-915)aaaggafs		lectin, mannose-binding, 1	Antihemophilic Factor(DB00025)			1,4263		0,1,2131						5.7	1.0			139	0,8254		0,0,4127	no	frameshift	LMAN1	NM_005570.3		0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12517				SO:0001589	frameshift_variant	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57013193_57013194insT	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.913dupA	18.37:g.57013202_57013202dupT	ENSP00000251047:p.Glu305fs						p.G305fs	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN			8	1629_1630	-		Colorectal(73;0.0946)	305					Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Frame_Shift_Ins	INS	ENST00000251047.5	37	c.912_913insA	CCDS11974.1																																																																																				0.455	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		9	448						9	448	---	---	---	---
DENND1C	79958	broad.mit.edu	37	19	6477251	6477251	+	Frame_Shift_Del	DEL	G	G	-	rs553532837	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:6477251delG	ENST00000381480.2	-	8	603	c.491delC	c.(490-492)cctfs	p.P164fs	DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs|DENND1C_ENST00000591030.1_5'UTR	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	164	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCCCGGGTAGGGGGGGGGAT	0.672													GGGGGtGGG|GGGGGGGGG|GGGGGGGG|complex_deletion	5	0.000998403	0.0008	0.0	5008	,	,		12739	0.003		0.001	False		,,,				2504	0.0					ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(490-492)ctfs		DENN/MADD domain containing 1C							20.0	25.0	24.0					19																	6477251		1952	4130	6082	SO:0001589	frameshift_variant	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6477251delG	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.491delC	19.37:g.6477251delG	ENSP00000370889:p.Pro164fs					DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs	p.P164fs	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			8	603	-			164			DENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Frame_Shift_Del	DEL	ENST00000381480.2	37	c.491delC	CCDS45938.1																																																																																				0.672	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		7	230						7	230	---	---	---	---
CTC-513N18.6	0	broad.mit.edu	37	19	20634038	20634039	+	lincRNA	DEL	TG	TG	-	rs144024329		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:20634038_20634039delTG	ENST00000598131.1	+	0	160																											TTAGTAAAAATGTGTGTGTGTG	0.401																																						ENST00000598131.1																			0																																																			0							g.chr19:20634038_20634039delTG																													19.37:g.20634048_20634049delTG														0	160	+									RNA	DEL	ENST00000598131.1	37																																																																																						0.401	CTC-513N18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000463072.1			18	211						18	211	---	---	---	---
SBSN	374897	broad.mit.edu	37	19	36019046	36019047	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:36019046_36019047delCT	ENST00000452271.2	-	1	165_166	c.137_138delAG	c.(136-138)gagfs	p.E46fs	SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	46						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E46fs*27(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTTGCCCACCTCTCTCTCTGC	0.579																																						ENST00000452271.2																			1	Deletion - Frameshift(1)	p.E46fs*27(1)	large_intestine(1)	large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(136-138)gfs		suprabasin																																				SO:0001589	frameshift_variant	374897					extracellular region		g.chr19:36019046_36019047delCT	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.137_138delAG	19.37:g.36019054_36019055delCT	ENSP00000430242:p.Glu46fs					SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	165_166	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		46					A8K5J0|E9PBV3	Frame_Shift_Del	DEL	ENST00000452271.2	37	c.137_138delAG	CCDS54253.1																																																																																				0.579	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		7	871						7	871	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43428981	43428982	+	RNA	INS	-	-	G	rs200700777	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:43428981_43428982insG	ENST00000406070.2	-	0	1340				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				tccagtctacagtggataataa	0.406													|||unknown(NO_COVERAGE)	182	0.0363419	0.0666	0.049	5008	,	,		17867	0.0		0.0447	False		,,,				2504	0.0153					ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)			,	540,3372		144,252,1560					,	0.1	0.1			73	440,7000		88,264,3368	no	intron,intron	PSG7	NM_002783.2,NM_001206650.1	,	232,516,4928	A1A1,A1R,RR		5.914,13.8037,8.6328	,	,		980,10372						5676				female pregnancy	extracellular region		g.chr19:43428981_43428982insG			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43428982_43428982dupG								NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	1340	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.406	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		16	176						16	176	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_In_Frame_Del_p.E173del|SLC8A2_ENST00000542837.1_In_Frame_Del_p.E466del	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_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del	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			8	506						8	506	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(73-75)aafs		CCCTC-binding factor (zinc finger protein)-like							231.0	258.0	249.0					20																	56099187		2203	4300	6503	SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099187delT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.75delA	20.37:g.56099187delT	ENSP00000476783:p.Lys25fs					CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs	p.K25fs			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	736	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		25					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	37	c.75delA	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		10	1758						10	1758	---	---	---	---
PMEPA1	56937	broad.mit.edu	37	20	56227348	56227349	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:56227348_56227349insG	ENST00000341744.3	-	4	943_944	c.624_625insC	c.(622-627)cccagcfs	p.S209fs	PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.S159fs|PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.S174fs|PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.S159fs|PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.S159fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	209					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAGG	0.683																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(622-627)ccgcagfs		prostate transmembrane protein, androgen induced 1			,,,	19,4245		0,19,2113					,,,	5.5	1.0			31	10,8236		0,10,4113	no	frameshift,frameshift,frameshift,frameshift	PMEPA1	NM_199171.1,NM_199170.1,NM_199169.1,NM_020182.3	,,,	0,29,6226	A1A1,A1R,RR		0.1213,0.4456,0.2318	,,,	,,,		29,12481				SO:0001589	frameshift_variant	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227348_56227349insG	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.625dupC	20.37:g.56227355_56227355dupG	ENSP00000345826:p.Ser209fs					PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.Q174fs	p.Q209fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	943_944	-			209					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Frame_Shift_Ins	INS	ENST00000341744.3	37	c.624_625insC	CCDS13463.1																																																																																				0.683	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		52	261						52	261	---	---	---	---
HMGXB4	10042	broad.mit.edu	37	22	35661544	35661544	+	Frame_Shift_Del	DEL	A	A	-	rs76572304		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:35661544delA	ENST00000216106.5	+	5	1291	c.1163delA	c.(1162-1164)gaafs	p.E388fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	388					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCATAGTGAaaaaaaaaag	0.493																																						ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1162-1164)gafs		HMG box domain containing 4																																				SO:0001589	frameshift_variant	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35661544delA	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1163delA	22.37:g.35661544delA	ENSP00000216106:p.Glu388fs					HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs	p.E388fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			5	1291	+			388					O75672|O75673|Q9UMT5	Frame_Shift_Del	DEL	ENST00000216106.5	37	c.1163delA	CCDS33641.1																																																																																				0.493	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		10	263						10	263	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-	rs375955867		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	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	383						7	383	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					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						GCTGGCAGCGCTCCTCCTCCTCC	0.665			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.(2785-2787)del		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.chr22:36696948_36696950delCTC		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.2785_2787delGAG	22.37:g.36696957_36696959delCTC	ENSP00000216181:p.Glu929del						p.E929del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			22	3015_3017	-			929					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.2785_2787delGAG	CCDS13927.1																																																																																				0.665	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		10	572						10	572	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_ENST00000335626.4_In_Frame_Del_p.S246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(736-741)ttc>t		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610573_42610575delAGG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.737_739delCCT	22.37:g.42610582_42610584delAGG	ENSP00000352463:p.Ser246del					TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	873_875	-			246			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.737_739delCCT	CCDS14033.1																																																																																				0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		8	385						8	385	---	---	---	---
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-	rs552164906		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs	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		9	698						9	698	---	---	---	---
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		15	525						15	525	---	---	---	---
