#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
RANBP2	5903	broad.mit.edu	37	2	109367844	109367844	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr2:109367844T>G	ENST00000283195.6	+	10	1524	c.1398T>G	c.(1396-1398)caT>caG	p.H466Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	466					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.H466Q(6)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTTGCCCCATGAAACCTCAA	0.358																																						ENST00000283195.6																		RANBP2/ALK(34)	6	Substitution - Missense(6)	p.H466Q(6)	endometrium(6)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1396-1398)caT>caG		RAN binding protein 2							69.0	78.0	75.0					2																	109367844		1510	2703	4213	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109367844T>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1398T>G	2.37:g.109367844T>G	ENSP00000283195:p.His466Gln						p.H466Q	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			10	1524	+			466					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1398T>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	2.180	-0.387877	0.04932	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.82526	-1.62	5.25	2.44	0.29823	.	.	.	.	.	T	0.43545	0.1252	N	0.00197	-1.87	0.20563	N	0.999888	B	0.02656	0.0	B	0.01281	0.0	T	0.50039	-0.8874	9	0.02654	T	1	-0.0972	5.4961	0.16804	0.3195:0.0:0.5396:0.1409	.	466	P49792	RBP2_HUMAN	Q	466	ENSP00000283195:H466Q	ENSP00000283195:H466Q	H	+	3	2	RANBP2	108734276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.307000	0.43682	0.319000	0.23209	-0.127000	0.14921	CAT		0.358	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		5	693	0	0	0	1	0	5	693				
FAM71F1	84691	broad.mit.edu	37	7	128370052	128370052	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:128370052C>T	ENST00000315184.5	+	6	1003	c.950C>T	c.(949-951)tCc>tTc	p.S317F	FAM71F1_ENST00000485070.1_Missense_Mutation_p.S216F	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	317										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						GAGAACCCCTCCGGCCTGCAG	0.592																																						ENST00000315184.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(949-951)tCc>tTc		family with sequence similarity 71, member F1							99.0	95.0	97.0					7																	128370052		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128370052C>T	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.950C>T	7.37:g.128370052C>T	ENSP00000326652:p.Ser317Phe					FAM71F1_ENST00000485070.1_Missense_Mutation_p.S216F	p.S317F	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN			6	1003	+			317					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.950C>T	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462228	0.63513	.	.	ENSG00000135248	ENST00000485070;ENST00000315184	T;T	0.27720	1.65;2.99	4.57	4.57	0.56435	.	0.000000	0.43579	D	0.000549	T	0.50034	0.1592	M	0.65975	2.015	0.29893	N	0.825014	D;D;D	0.69078	0.997;0.994;0.997	D;P;D	0.65010	0.931;0.855;0.916	T	0.52419	-0.8578	10	0.87932	D	0	-8.6553	12.735	0.57218	0.0:1.0:0.0:0.0	.	315;317;216	Q96KD3-2;Q96KD3;Q8NA48	.;F71F1_HUMAN;.	F	216;317	ENSP00000418192:S216F;ENSP00000326652:S317F	ENSP00000326652:S317F	S	+	2	0	FAM71F1	128157288	0.973000	0.33851	0.378000	0.26068	0.799000	0.45148	3.243000	0.51392	2.364000	0.80123	0.655000	0.94253	TCC		0.592	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		8	255	0	0	0	1	0	8	255				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	135	0	0	0	1	0	5	135				
REST	5978	broad.mit.edu	37	4	57796227	57796227	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:57796227G>A	ENST00000309042.7	+	4	1517	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	401	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTTCCAAGAAGTGTAATCTAC	0.378																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(1201-1203)aaG>aaA		RE1-silencing transcription factor							156.0	153.0	154.0					4																	57796227		2203	4300	6503	SO:0001819	synonymous_variant	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796227G>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1203G>A	4.37:g.57796227G>A							p.K401K	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	1517	+	Glioma(25;0.08)|all_neural(26;0.181)		401			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Silent	SNP	ENST00000309042.7	37	c.1203G>A	CCDS3509.1																																																																																				0.378	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		13	420	0	0	0	1	0	13	420				
CHD4	1108	broad.mit.edu	37	12	6701634	6701634	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr12:6701634A>C	ENST00000357008.2	-	19	3036	c.2873T>G	c.(2872-2874)cTc>cGc	p.L958R	CHD4_ENST00000544040.1_Missense_Mutation_p.L951R|CHD4_ENST00000309577.6_Missense_Mutation_p.L958R|CHD4_ENST00000544484.1_Missense_Mutation_p.L955R	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	958					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.L958H(2)		central_nervous_system(2)	2						ATCGGCTTTGAGCCGCCGCAA	0.502																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			2	Substitution - Missense(2)	p.L958H(2)	kidney(2)	central_nervous_system(2)	2						c.(2872-2874)cTc>cGc		chromodomain helicase DNA binding protein 4							83.0	83.0	83.0					12																	6701634		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6701634A>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2873T>G	12.37:g.6701634A>C	ENSP00000349508:p.Leu958Arg					CHD4_ENST00000357008.2_Missense_Mutation_p.L958R|CHD4_ENST00000544484.1_Missense_Mutation_p.L955R|CHD4_ENST00000544040.1_Missense_Mutation_p.L951R	p.L958R			Q14839	CHD4_HUMAN			19	3036	-			958					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.2873T>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.852689	0.71719	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13	5.4	5.4	0.78164	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	L	0.60904	1.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.997	D	0.95534	0.8606	10	0.87932	D	0	.	15.4307	0.75092	1.0:0.0:0.0:0.0	.	958;958;951	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	R	955;951;958;958;932	ENSP00000440392:L955R;ENSP00000440542:L951R;ENSP00000312419:L958R;ENSP00000349508:L958R	ENSP00000312419:L958R	L	-	2	0	CHD4	6571895	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	9.307000	0.96226	2.047000	0.60756	0.460000	0.39030	CTC		0.502	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		10	217	0	0	0	1	0	10	217				
LRP5	4041	broad.mit.edu	37	11	68153885	68153885	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:68153885C>T	ENST00000294304.7	+	6	1223	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	373	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACGACATCCGGCACGCCAT	0.657																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1117-1119)Cgg>Tgg		low density lipoprotein receptor-related protein 5							103.0	73.0	83.0					11																	68153885		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68153885C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1117C>T	11.37:g.68153885C>T	ENSP00000294304:p.Arg373Trp						p.R373W	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			6	1223	+			373			Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.1117C>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776835	0.70107	.	.	ENSG00000162337	ENST00000294304	D	0.91407	-2.84	3.81	2.81	0.32909	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.44688	U	0.000427	D	0.94837	0.8332	M	0.89214	3.015	0.58432	D	0.999995	D	0.89917	1.0	D	0.74023	0.982	D	0.94496	0.7705	10	0.87932	D	0	.	9.3554	0.38164	0.4366:0.5634:0.0:0.0	.	373	O75197	LRP5_HUMAN	W	373	ENSP00000294304:R373W	ENSP00000294304:R373W	R	+	1	2	LRP5	67910461	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	2.824000	0.48088	2.177000	0.69029	0.449000	0.29647	CGG		0.657	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		4	101	0	0	0	1	0	4	101				
TTC26	79989	broad.mit.edu	37	7	138832962	138832962	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:138832962G>A	ENST00000464848.1	+	7	636	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	TTC26_ENST00000474035.2_Missense_Mutation_p.A186T|TTC26_ENST00000495038.1_Intron|TTC26_ENST00000430935.1_Missense_Mutation_p.A186T|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Missense_Mutation_p.A155T|TTC26_ENST00000478836.2_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	186					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GGAATACCTTGCCCTTAATGT	0.383																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(556-558)Gcc>Acc		tetratricopeptide repeat domain 26							230.0	204.0	213.0					7																	138832962		2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138832962G>A	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.556G>A	7.37:g.138832962G>A	ENSP00000419279:p.Ala186Thr					TTC26_ENST00000474035.2_Missense_Mutation_p.A186T|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Missense_Mutation_p.A155T|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000430935.1_Missense_Mutation_p.A186T|TTC26_ENST00000495038.1_Intron	p.A186T			A0AVF1	TTC26_HUMAN			7	636	+			186					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.556G>A	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	G	35	5.577303	0.96565	.	.	ENSG00000105948	ENST00000430935;ENST00000474035;ENST00000464848;ENST00000343187	T;T;T;T	0.75938	-0.98;-0.98;-0.98;1.17	5.47	5.47	0.80525	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.063428	0.64402	D	0.000006	D	0.90256	0.6953	M	0.93375	3.41	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.997;1.0;1.0	D;D;D;D;D	0.91635	0.993;0.999;0.996;0.965;0.999	D	0.92325	0.5869	10	0.72032	D	0.01	.	19.3304	0.94283	0.0:0.0:1.0:0.0	.	155;186;186;155;186	F8W724;C9J2N7;A0AVF1;B7Z5M0;Q96CU4	.;.;TTC26_HUMAN;.;.	T	186;186;186;155	ENSP00000410655:A186T;ENSP00000443253:A186T;ENSP00000419279:A186T;ENSP00000339135:A155T	ENSP00000339135:A155T	A	+	1	0	TTC26	138483502	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.415000	0.97375	2.577000	0.86979	0.655000	0.94253	GCC		0.383	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		25	277	0	0	0	1	0	25	277				
RFTN1	23180	broad.mit.edu	37	3	16475544	16475544	+	Splice_Site	SNP	G	G	A	rs532776757		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:16475544G>A	ENST00000334133.4	-	3	418	c.146C>T	c.(145-147)gCg>gTg	p.A49V	RFTN1_ENST00000432519.1_Splice_Site_p.A13V	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	49					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AGGGAGCTCCGCTGGAGTGGA	0.662																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.e3-1		raftlin, lipid raft linker 1							18.0	19.0	19.0					3																	16475544		2201	4299	6500	SO:0001630	splice_region_variant	23180					plasma membrane		g.chr3:16475544G>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.146-1C>T	3.37:g.16475544G>A						RFTN1_ENST00000432519.1_Splice_Site_p.A13_splice	p.A49_splice	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			3	418	-			49					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Splice_Site	SNP	ENST00000334133.4	37	c.145_splice	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196017	0.38806	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.21	3.39	0.38822	.	0.350104	0.26334	N	0.024978	T	0.24314	0.0589	L	0.38838	1.175	0.48901	D	0.999725	P;B	0.38078	0.617;0.266	B;B	0.30029	0.11;0.039	T	0.07673	-1.0760	10	0.56958	D	0.05	.	10.1245	0.42641	0.0727:0.0:0.7923:0.135	.	13;49	G3XAJ6;Q14699	.;RFTN1_HUMAN	V	13;49;49;49;49;49	ENSP00000403926:A13V;ENSP00000334153:A49V;ENSP00000403997:A49V;ENSP00000409427:A49V;ENSP00000388718:A49V;ENSP00000393216:A49V	ENSP00000334153:A49V	A	-	2	0	RFTN1	16450548	1.000000	0.71417	0.899000	0.35326	0.354000	0.29330	3.849000	0.55910	1.188000	0.43014	0.561000	0.74099	GCG		0.662	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150	Missense_Mutation	7	48	0	0	0	1	0	7	48				
TENM3	55714	broad.mit.edu	37	4	183714762	183714762	+	Silent	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:183714762C>T	ENST00000511685.1	+	26	7060	c.6937C>T	c.(6937-6939)Ctg>Ttg	p.L2313L	TENM3_ENST00000406950.2_Silent_p.L2313L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2313					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGGGCTTATGCTGAAACAGAT	0.418																																						ENST00000511685.1																			0											c.(6937-6939)Ctg>Ttg		teneurin transmembrane protein 3							101.0	101.0	101.0					4																	183714762		1911	4125	6036	SO:0001819	synonymous_variant	55714							g.chr4:183714762C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6937C>T	4.37:g.183714762C>T						TENM3_ENST00000406950.2_Silent_p.L2313L	p.L2313L							26	7060	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.6937C>T	CCDS47165.1																																																																																				0.418	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			5	84	0	0	0	1	0	5	84				
ATF4P4	100127952	broad.mit.edu	37	11	113661671	113661671	+	RNA	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:113661671G>A	ENST00000393544.2	+	0	1719									activating transcription factor 4 pseudogene 4																		AAAGGAGGAAGACACCCCTTC	0.502																																						ENST00000393544.2																			0																																																			0							g.chr11:113661671G>A			11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113661671G>A														0	1719	+									RNA	SNP	ENST00000393544.2	37																																																																																						0.502	ATF4P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000398707.1	NG_021835		42	39	0	0	0	1	0	42	39				
FBXO30	84085	broad.mit.edu	37	6	146125579	146125579	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:146125579C>T	ENST00000237281.4	-	2	2129	c.1963G>A	c.(1963-1965)Ggc>Agc	p.G655S		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	655							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ATGACCATGCCACGAGACTGA	0.438																																						ENST00000237281.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1963-1965)Ggc>Agc		F-box protein 30							147.0	139.0	142.0					6																	146125579		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146125579C>T	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1963G>A	6.37:g.146125579C>T	ENSP00000237281:p.Gly655Ser						p.G655S	NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	2129	-		Ovarian(120;0.0776)	655					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.1963G>A	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348433	0.82132	.	.	ENSG00000118496	ENST00000237281	T	0.28069	1.63	5.86	5.86	0.93980	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55036	-0.8203	10	0.87932	D	0	-21.4082	20.1784	0.98192	0.0:1.0:0.0:0.0	.	655	Q8TB52	FBX30_HUMAN	S	655	ENSP00000237281:G655S	ENSP00000237281:G655S	G	-	1	0	FBXO30	146167272	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.811000	0.86092	2.771000	0.95319	0.643000	0.83706	GGC		0.438	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			6	160	0	0	0	1	0	6	160				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	246	0	0	0	1	0	6	246				
UGT2A3	79799	broad.mit.edu	37	4	69796351	69796351	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:69796351G>A	ENST00000251566.4	-	5	1247	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V	UGT2A3_ENST00000420231.2_Missense_Mutation_p.A117V	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	406					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCTCCTTTGGCCTTCATGTG	0.428																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1216-1218)gCc>gTc		UDP glucuronosyltransferase 2 family, polypeptide A3							123.0	126.0	125.0					4																	69796351		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69796351G>A		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1217C>T	4.37:g.69796351G>A	ENSP00000251566:p.Ala406Val					UGT2A3_ENST00000420231.2_Missense_Mutation_p.A117V	p.A406V	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			5	1247	-			406					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1217C>T	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490351	0.44249	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.62639	0.01;3.22	1.99	1.99	0.26369	.	0.208149	0.40728	N	0.001040	T	0.73908	0.3647	M	0.73319	2.225	0.28919	N	0.892254	D	0.89917	1.0	D	0.91635	0.999	T	0.66945	-0.5795	10	0.66056	D	0.02	.	9.5666	0.39402	0.0:0.0:1.0:0.0	.	406	Q6UWM9	UD2A3_HUMAN	V	406;117	ENSP00000251566:A406V;ENSP00000440115:A117V	ENSP00000251566:A406V	A	-	2	0	UGT2A3	69830940	0.003000	0.15002	0.994000	0.49952	0.630000	0.37929	1.243000	0.32767	1.094000	0.41399	0.491000	0.48974	GCC		0.428	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		26	305	0	0	0	1	0	26	305				
NEK11	79858	broad.mit.edu	37	3	130992408	130992408	+	Missense_Mutation	SNP	C	C	T	rs144676044	byFrequency	TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:130992408C>T	ENST00000510769.1	+	13	1646	c.1393C>T	c.(1393-1395)Cgc>Tgc	p.R465C	NEK11_ENST00000508196.1_Missense_Mutation_p.R570C|NEK11_ENST00000412440.2_Missense_Mutation_p.R386C|NEK11_ENST00000383366.4_Missense_Mutation_p.R570C|NEK11_ENST00000429253.2_Missense_Mutation_p.R570C|NEK11_ENST00000510688.1_Intron					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CAAGATGAAACGCATGAGGGA	0.478													C|||	2	0.000399361	0.0	0.0	5008	,	,		20342	0.002		0.0	False		,,,				2504	0.0					ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(1708-1710)Cgc>Tgc		NIMA-related kinase 11		C	,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	146.0	109.0	122.0		,1708	2.7	0.0	3	dbSNP_134	122	3,8597	3.0+/-9.4	0,3,4297	yes	intron,missense	NEK11	NM_001146003.1,NM_024800.4	,180	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,probably-damaging	,570/646	130992408	4,13002	2203	4300	6503	SO:0001583	missense	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130992408C>T	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1393C>T	3.37:g.130992408C>T	ENSP00000421549:p.Arg465Cys					NEK11_ENST00000510688.1_Intron|NEK11_ENST00000508196.1_Missense_Mutation_p.R570C|NEK11_ENST00000412440.2_Missense_Mutation_p.R386C|NEK11_ENST00000510769.1_Missense_Mutation_p.R465C|NEK11_ENST00000429253.2_Missense_Mutation_p.R570C	p.R570C	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			17	2001	+			570						Missense_Mutation	SNP	ENST00000510769.1	37	c.1708C>T		.	.	.	.	.	.	.	.	.	.	C	12.35	1.911280	0.33721	2.27E-4	3.49E-4	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000383366;ENST00000412440;ENST00000508196	T;T;T;T;T	0.72725	-0.65;-0.45;-0.45;-0.68;-0.45	5.49	2.71	0.32032	.	1.183100	0.06321	N	0.704478	T	0.63534	0.2519	L	0.46157	1.445	0.09310	N	0.999999	B;B;B	0.18741	0.03;0.018;0.01	B;B;B	0.12156	0.007;0.003;0.003	T	0.48399	-0.9039	10	0.38643	T	0.18	.	6.8963	0.24257	0.1402:0.7146:0.0:0.1452	.	465;386;570	E9PHI8;B4DDN2;Q8NG66	.;.;NEK11_HUMAN	C	465;570;570;386;570	ENSP00000421549:R465C;ENSP00000397180:R570C;ENSP00000372857:R570C;ENSP00000411888:R386C;ENSP00000421851:R570C	ENSP00000372857:R570C	R	+	1	0	NEK11	132475098	0.018000	0.18449	0.001000	0.08648	0.350000	0.29205	1.886000	0.39688	0.286000	0.22352	-0.259000	0.10710	CGC		0.478	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		27	46	0	0	0	1	0	27	46				
CLK2	1196	broad.mit.edu	37	1	155240701	155240701	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr1:155240701C>T	ENST00000368361.4	-	2	383	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	CLK2_ENST00000536801.1_Missense_Mutation_p.R23Q|CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000355560.4_Missense_Mutation_p.R23Q|CLK2_ENST00000361168.5_Missense_Mutation_p.R23Q			P49760	CLK2_HUMAN	CDC-like kinase 2	23					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTTTCGGCTCCGATAGTGTTC	0.572								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(67-69)cGg>cAg	Other conserved DNA damage response genes	CDC-like kinase 2							129.0	122.0	124.0					1																	155240701		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155240701C>T	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.68G>A	1.37:g.155240701C>T	ENSP00000357345:p.Arg23Gln					CLK2_ENST00000355560.4_Missense_Mutation_p.R23Q|CLK2_ENST00000361168.5_Missense_Mutation_p.R23Q|CLK2_ENST00000536801.1_Missense_Mutation_p.R23Q	p.R23Q			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	383	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		23					B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.68G>A		.	.	.	.	.	.	.	.	.	.	.	18.77	3.695639	0.68386	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.54866	0.55;0.57;0.56;0.57	4.58	3.66	0.41972	.	0.109377	0.64402	N	0.000012	T	0.29288	0.0729	L	0.58101	1.795	0.42490	D	0.992897	B;B	0.31318	0.214;0.319	B;B	0.27887	0.039;0.084	T	0.12167	-1.0558	10	0.30078	T	0.28	.	11.1847	0.48648	0.0:0.9088:0.0:0.0911	.	23;23	P49760;P49760-3	CLK2_HUMAN;.	Q	23	ENSP00000354856:R23Q;ENSP00000357345:R23Q;ENSP00000347759:R23Q;ENSP00000441023:R23Q	ENSP00000347759:R23Q	R	-	2	0	CLK2	153507325	1.000000	0.71417	0.852000	0.33557	0.916000	0.54674	4.127000	0.57944	1.153000	0.42468	0.549000	0.68633	CGG		0.572	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		7	137	0	0	0	1	0	7	137				
TP53	7157	broad.mit.edu	37	17	7577107	7577107	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:7577107A>C	ENST00000269305.4	-	8	1020	c.831T>G	c.(829-831)tgT>tgG	p.C277W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C277W|TP53_ENST00000445888.2_Missense_Mutation_p.C277W|TP53_ENST00000455263.2_Missense_Mutation_p.C277W|TP53_ENST00000420246.2_Missense_Mutation_p.C277W	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	277	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and 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.0?(8)|p.C277*(8)|p.C277C(4)|p.?(2)|p.P278fs*28(2)|p.C277W(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.A276_C277delAC(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	CTCTCCCAGGACAGGCACAAA	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		38	Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - In frame(7)|Deletion - Frameshift(4)|Substitution - coding silent(4)|Insertion - Frameshift(2)|Unknown(2)|Substitution - Missense(2)|Insertion - In frame(1)	p.0?(8)|p.C277*(8)|p.C277C(4)|p.?(2)|p.P278fs*28(2)|p.C277W(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.A276_C277delAC(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	upper_aerodigestive_tract(6)|breast(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|central_nervous_system(2)|oesophagus(2)|lung(2)|biliary_tract(1)|large_intestine(1)|ovary(1)|prostate(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	CM065496	TP53	M		c.(829-831)tgT>tgG	Other conserved DNA damage response genes	tumor protein p53							72.0	62.0	65.0					17																	7577107		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.chr17:7577107A>C	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.831T>G	17.37:g.7577107A>C	ENSP00000269305:p.Cys277Trp	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.C277W|TP53_ENST00000269305.4_Missense_Mutation_p.C277W|TP53_ENST00000359597.4_Missense_Mutation_p.C277W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C277W	p.C277W	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)	8	963	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	277		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.831T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.529367	0.64860	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99876	-7.41;-7.41;-7.41;-7.41;-7.41;-7.41	5.13	1.53	0.23141	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.044315	0.85682	D	0.000000	D	0.99829	0.9923	M	0.91872	3.25	0.80722	D	1	P;D;D;P	0.89917	0.858;1.0;0.974;0.757	P;D;P;P	0.91635	0.689;0.999;0.839;0.648	D	0.98463	1.0597	10	0.87932	D	0	-10.0792	7.7422	0.28848	0.6581:0.0:0.3419:0.0	.	277;277;277;277	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	277;277;277;277;277;266;145	ENSP00000352610:C277W;ENSP00000269305:C277W;ENSP00000398846:C277W;ENSP00000391127:C277W;ENSP00000391478:C277W;ENSP00000425104:C145W	ENSP00000269305:C277W	C	-	3	2	TP53	7517832	0.987000	0.35691	1.000000	0.80357	0.977000	0.68977	0.281000	0.18810	0.383000	0.24910	0.379000	0.24179	TGT		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	27	0	0	0	1	0	28	27				
SRPR	6734	broad.mit.edu	37	11	126135266	126135266	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:126135266A>G	ENST00000332118.6	-	10	1362	c.1208T>C	c.(1207-1209)gTa>gCa	p.V403A	SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.V375A	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	403					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GAGCATGTCTACACGACGCTG	0.572																																						ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(1207-1209)gTa>gCa		signal recognition particle receptor (docking protein)							63.0	60.0	61.0					11																	126135266		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126135266A>G	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1208T>C	11.37:g.126135266A>G	ENSP00000328023:p.Val403Ala					SRPR_ENST00000532259.1_Missense_Mutation_p.V375A	p.V403A	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	10	1362	-	all_hematologic(175;0.145)		403					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.1208T>C	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.839306	0.91117	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.38	5.38	0.77491	.	0.125028	0.56097	D	0.000034	T	0.66268	0.2772	M	0.81341	2.54	0.80722	D	1	P;P	0.51791	0.948;0.897	P;P	0.47402	0.546;0.546	T	0.72408	-0.4303	9	0.59425	D	0.04	-10.4731	14.1136	0.65139	1.0:0.0:0.0:0.0	.	375;403	E9PJS4;P08240	.;SRPR_HUMAN	A	403;375	.	ENSP00000328023:V403A	V	-	2	0	SRPR	125640476	1.000000	0.71417	0.795000	0.32087	0.998000	0.95712	9.028000	0.93712	2.262000	0.75019	0.528000	0.53228	GTA		0.572	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		5	95	0	0	0	1	0	5	95				
COL4A2	1284	broad.mit.edu	37	13	111156557	111156557	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr13:111156557G>A	ENST00000360467.5	+	45	4654	c.4348G>A	c.(4348-4350)Ggc>Agc	p.G1450S	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1450	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCTGTTCCCGGCTTCCGGGG	0.597																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4348-4350)Ggc>Agc		collagen, type IV, alpha 2							68.0	76.0	74.0					13																	111156557		1956	4151	6107	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111156557G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4348G>A	13.37:g.111156557G>A	ENSP00000353654:p.Gly1450Ser					COL4A2-AS1_ENST00000417970.2_RNA	p.G1450S	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		45	4654	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1450			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.4348G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154655	0.78114	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99607	-6.27	5.2	5.2	0.72013	.	0.000000	0.53938	D	0.000041	D	0.99792	0.9912	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96904	0.9662	10	0.87932	D	0	.	18.3673	0.90396	0.0:0.0:1.0:0.0	.	1450	P08572	CO4A2_HUMAN	S	1450	ENSP00000353654:G1450S	ENSP00000257309:G1450S	G	+	1	0	COL4A2	109954558	1.000000	0.71417	0.654000	0.29608	0.108000	0.19459	6.812000	0.75226	2.423000	0.82170	0.561000	0.74099	GGC		0.597	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		4	160	0	0	0	1	0	4	160				
MAN2B2	23324	broad.mit.edu	37	4	6578375	6578375	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:6578375G>A	ENST00000285599.3	+	2	245	c.209G>A	c.(208-210)cGc>cAc	p.R70H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R70H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	70					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.R70L(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGCCAGCAGCGCCGGTTCATC	0.627																																						ENST00000285599.3																			1	Substitution - Missense(1)	p.R70L(1)	lung(1)	breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(208-210)cGc>cAc		mannosidase, alpha, class 2B, member 2							64.0	66.0	65.0					4																	6578375		2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6578375G>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.209G>A	4.37:g.6578375G>A	ENSP00000285599:p.Arg70His					MAN2B2_ENST00000504248.1_Missense_Mutation_p.R70H	p.R70H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			2	245	+			70					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.209G>A	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.29|11.29	1.595301|1.595301	0.28445|0.28445	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|T;T	.|0.25414	.|1.8;1.8	3.89|3.89	2.14|2.14	0.27477|0.27477	.|Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.32376|0.32376	0.0827|0.0827	M|M	0.84326|0.84326	2.69|2.69	0.48696|0.48696	D|D	0.999694|0.999694	.|B;B;P	.|0.37398	.|0.424;0.424;0.593	.|B;B;B	.|0.39465	.|0.265;0.209;0.3	T|T	0.07986|0.07986	-1.0744|-1.0744	5|10	.|0.59425	.|D	.|0.04	.|.	8.6005|8.6005	0.33742|0.33742	0.1982:0.0:0.8018:0.0|0.1982:0.0:0.8018:0.0	.|.	.|70;70;70	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	T|H	69|70	.|ENSP00000285599:R70H;ENSP00000423129:R70H	.|ENSP00000285599:R70H	A|R	+|+	1|2	0|0	MAN2B2|MAN2B2	6629276|6629276	1.000000|1.000000	0.71417|0.71417	0.010000|0.010000	0.14722|0.14722	0.088000|0.088000	0.18126|0.18126	4.429000|4.429000	0.59901|0.59901	0.135000|0.135000	0.18707|0.18707	-0.263000|-0.263000	0.10527|0.10527	GCC|CGC		0.627	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		48	172	0	0	0	1	0	48	172				
TPTE2P6	374491	broad.mit.edu	37	13	25168471	25168471	+	RNA	SNP	C	C	T	rs61946941	byFrequency	TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr13:25168471C>T	ENST00000453498.1	+	0	1143				TPTE2P6_ENST00000440905.1_RNA																							CATCTCTGTACGATGATGTGA	0.358																																						ENST00000453498.1																			0																																																			0							g.chr13:25168471C>T																													13.37:g.25168471C>T														0	1143	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.358	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	68	0	0	0	1	0	4	68				
CCNY	219771	broad.mit.edu	37	10	35841995	35841995	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr10:35841995G>A	ENST00000374704.4	+	8	808	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	CCNY_ENST00000265375.9_Missense_Mutation_p.A156T|CCNY_ENST00000374706.1_Missense_Mutation_p.A156T|CCNY_ENST00000339497.5_Missense_Mutation_p.A185T|CCNY_ENST00000492478.1_3'UTR	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	210	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.A156T(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TATCTGTCCGGCCAACTGGAA	0.473																																						ENST00000374704.4																			1	Substitution - Missense(1)	p.A156T(1)	lung(1)	cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(628-630)Gcc>Acc		cyclin Y							133.0	133.0	133.0					10																	35841995		2203	4300	6503	SO:0001583	missense	219771				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	g.chr10:35841995G>A	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.628G>A	10.37:g.35841995G>A	ENSP00000363836:p.Ala210Thr					CCNY_ENST00000265375.9_Missense_Mutation_p.A156T|CCNY_ENST00000374706.1_Missense_Mutation_p.A156T|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000339497.5_Missense_Mutation_p.A185T	p.A210T	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN			8	808	+			210			Cyclin N-terminal.		B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	ENST00000374704.4	37	c.628G>A	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	G	9.696	1.153156	0.21371	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	5.32	5.32	0.75619	Cyclin, N-terminal (1);Cyclin-like (3);	0.219970	0.47455	D	0.000240	T	0.69575	0.3126	N	0.01686	-0.76	0.53005	D	0.999966	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.13407	0.002;0.005;0.009	T	0.68727	-0.5332	10	0.02654	T	1	-0.3774	19.3632	0.94451	0.0:0.0:1.0:0.0	.	77;185;210	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	T	156;210;210;185;156;77	ENSP00000363838:A156T;ENSP00000363836:A210T;ENSP00000344275:A185T;ENSP00000265375:A156T	ENSP00000265375:A156T	A	+	1	0	CCNY	35882001	0.998000	0.40836	0.933000	0.37362	0.988000	0.76386	4.009000	0.57110	2.652000	0.90054	0.655000	0.94253	GCC		0.473	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698		4	218	0	0	0	1	0	4	218				
CNTN6	27255	broad.mit.edu	37	3	1415355	1415355	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:1415355G>C	ENST00000446702.2	+	15	2481	c.1854G>C	c.(1852-1854)tgG>tgC	p.W618C	CNTN6_ENST00000539053.1_Missense_Mutation_p.W546C|CNTN6_ENST00000350110.2_Missense_Mutation_p.W618C			Q9UQ52	CNTN6_HUMAN	contactin 6	618	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACTAAGTTGGAGAGCAGGCC	0.443																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1852-1854)tgG>tgC		contactin 6							82.0	84.0	84.0					3																	1415355		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1415355G>C	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1854G>C	3.37:g.1415355G>C	ENSP00000407822:p.Trp618Cys					CNTN6_ENST00000539053.1_Missense_Mutation_p.W546C|CNTN6_ENST00000350110.2_Missense_Mutation_p.W618C	p.W618C			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	15	2481	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	618			Fibronectin type-III 1.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.1854G>C	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912309	0.72983	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	D;D;D	0.84223	-1.82;-1.82;-1.82	4.77	4.77	0.60923	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.49916	D	0.000133	D	0.96327	0.8802	H	0.99719	4.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98805	1.0741	10	0.87932	D	0	.	18.151	0.89674	0.0:0.0:1.0:0.0	.	618	Q9UQ52	CNTN6_HUMAN	C	618;546;618	ENSP00000407822:W618C;ENSP00000442791:W546C;ENSP00000341882:W618C	ENSP00000341882:W618C	W	+	3	0	CNTN6	1390355	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	9.306000	0.96204	2.339000	0.79563	0.591000	0.81541	TGG		0.443	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		10	147	0	0	0	1	0	10	147				
ZMIZ1	57178	broad.mit.edu	37	10	81052021	81052021	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr10:81052021G>A	ENST00000334512.5	+	11	1437	c.865G>A	c.(865-867)Gca>Aca	p.A289T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	289	Ala-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			agcggcagtggcagcagcagc	0.652																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(865-867)Gca>Aca		zinc finger, MIZ-type containing 1							38.0	43.0	42.0					10																	81052021		1776	3591	5367	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81052021G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.865G>A	10.37:g.81052021G>A	ENSP00000334474:p.Ala289Thr					ZMIZ1_ENST00000478357.1_3'UTR	p.A289T	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		11	1437	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		289			Ala-rich.		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.865G>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302503	0.95601	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.38887	1.11	5.16	5.16	0.70880	.	0.000000	0.39544	U	0.001340	T	0.64068	0.2565	M	0.68317	2.08	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.81914	0.995;0.936	T	0.65170	-0.6233	10	0.51188	T	0.08	-6.8539	18.2632	0.90043	0.0:0.0:1.0:0.0	.	199;289	Q9H7J0;Q9ULJ6	.;ZMIZ1_HUMAN	T	289;219;195	ENSP00000334474:A289T	ENSP00000334474:A289T	A	+	1	0	ZMIZ1	80722027	1.000000	0.71417	0.986000	0.45419	0.804000	0.45430	3.249000	0.51437	2.399000	0.81585	0.563000	0.77884	GCA		0.652	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		44	123	0	0	0	1	0	44	123				
NEB	4703	broad.mit.edu	37	2	152420364	152420364	+	Silent	SNP	G	G	A	rs572099716		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr2:152420364G>A	ENST00000172853.10	-	90	13596	c.13449C>T	c.(13447-13449)gcC>gcT	p.A4483A	NEB_ENST00000397345.3_Silent_p.A6184A|NEB_ENST00000603639.1_Silent_p.A6184A|NEB_ENST00000427231.2_Silent_p.A6184A|NEB_ENST00000409198.1_Silent_p.A4483A|NEB_ENST00000604864.1_Silent_p.A6184A			P20929	NEBU_HUMAN	nebulin	4483					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGCATGCTTGGCTCCAACAA	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		2084	0.0		0.0	False		,,,				2504	0.001					ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18550-18552)gcC>gcT		nebulin							79.0	80.0	80.0					2																	152420364		1983	4179	6162	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152420364G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13449C>T	2.37:g.152420364G>A						NEB_ENST00000604864.1_Silent_p.A6184A|NEB_ENST00000409198.1_Silent_p.A4483A|NEB_ENST00000172853.10_Silent_p.A4483A|NEB_ENST00000427231.2_Silent_p.A6184A|NEB_ENST00000603639.1_Silent_p.A6184A	p.A6184A	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	118	18754	-			6173					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.18552C>T																																																																																					0.488	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		17	27	0	0	0	1	0	17	27				
MEGF10	84466	broad.mit.edu	37	5	126758455	126758455	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr5:126758455G>A	ENST00000274473.6	+	14	1951	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	MEGF10_ENST00000503335.2_Missense_Mutation_p.G562R|MEGF10_ENST00000508365.1_Missense_Mutation_p.G562R|MEGF10_ENST00000418761.2_Missense_Mutation_p.G562R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	562	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGCCTCCCCGGATGGTCAGG	0.572																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1684-1686)Gga>Aga		multiple EGF-like-domains 10							27.0	26.0	26.0					5																	126758455		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126758455G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1684G>A	5.37:g.126758455G>A	ENSP00000274473:p.Gly562Arg					MEGF10_ENST00000418761.2_Missense_Mutation_p.G562R|MEGF10_ENST00000503335.2_Missense_Mutation_p.G562R|MEGF10_ENST00000508365.1_Missense_Mutation_p.G562R	p.G562R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	14	1951	+		Prostate(80;0.165)	562			EGF-like 10.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.1684G>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225569	0.95173	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	D;T;T;D	0.88277	-2.36;-0.7;-0.7;-2.36	5.28	5.28	0.74379	EGF-like, laminin (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.97473	0.9173	H	0.99705	4.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98985	1.0806	10	0.66056	D	0.02	-9.6306	19.2744	0.94026	0.0:0.0:1.0:0.0	.	562;562	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	R	562	ENSP00000423354:G562R;ENSP00000423195:G562R;ENSP00000416284:G562R;ENSP00000274473:G562R	ENSP00000274473:G562R	G	+	1	0	MEGF10	126786354	1.000000	0.71417	0.961000	0.40146	0.972000	0.66771	9.837000	0.99465	2.636000	0.89361	0.650000	0.86243	GGA		0.572	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		28	32	0	0	0	1	0	28	32				
NPAT	4863	broad.mit.edu	37	11	108032484	108032484	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:108032484G>A	ENST00000278612.8	-	17	3434	c.3329C>T	c.(3328-3330)cCt>cTt	p.P1110L		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1110					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ATTATTAGAAGGGGGTTTTAA	0.428																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(3328-3330)cCt>cTt		nuclear protein, ataxia-telangiectasia locus							75.0	69.0	71.0					11																	108032484		1853	4089	5942	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108032484G>A	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3329C>T	11.37:g.108032484G>A	ENSP00000278612:p.Pro1110Leu						p.P1110L	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	3434	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1110					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.3329C>T	CCDS41710.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.30|14.30	2.494045|2.494045	0.44352|0.44352	.|.	.|.	ENSG00000149308|ENSG00000149308	ENST00000527296|ENST00000278612	.|T	.|0.03860	.|3.78	5.75|5.75	4.84|4.84	0.62591|0.62591	.|.	.|0.417742	.|0.20705	.|N	.|0.087185	T|T	0.07999|0.07999	0.0200|0.0200	L|L	0.57536|0.57536	1.79|1.79	0.40212|0.40212	D|D	0.977636|0.977636	.|B	.|0.23249	.|0.082	.|B	.|0.25140	.|0.058	T|T	0.06250|0.06250	-1.0837|-1.0837	5|10	.|0.62326	.|D	.|0.03	-4.1803|-4.1803	12.6601|12.6601	0.56809|0.56809	0.0798:0.0:0.9202:0.0|0.0798:0.0:0.9202:0.0	.|.	.|1110	.|Q14207	.|NPAT_HUMAN	F|L	109|1110	.|ENSP00000278612:P1110L	.|ENSP00000278612:P1110L	L|P	-|-	1|2	0|0	NPAT|NPAT	107537694|107537694	1.000000|1.000000	0.71417|0.71417	0.714000|0.714000	0.30535|0.30535	0.347000|0.347000	0.29111|0.29111	5.187000|5.187000	0.65087|0.65087	1.590000|1.590000	0.49995|0.49995	0.655000|0.655000	0.94253|0.94253	CTT|CCT		0.428	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		5	208	0	0	0	1	0	5	208				
TRIP12	9320	broad.mit.edu	37	2	230633990	230633990	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr2:230633990G>C	ENST00000283943.5	-	39	5813	c.5635C>G	c.(5635-5637)Ctg>Gtg	p.L1879V	TRIP12_ENST00000389045.3_Missense_Mutation_p.L1609V|TRIP12_ENST00000389044.4_Missense_Mutation_p.L1927V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1879					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CATTCCATCAGTGTCTTTGCA	0.423																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5635-5637)Ctg>Gtg		thyroid hormone receptor interactor 12							151.0	134.0	140.0					2																	230633990		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230633990G>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5635C>G	2.37:g.230633990G>C	ENSP00000283943:p.Leu1879Val					TRIP12_ENST00000389044.4_Missense_Mutation_p.L1927V|TRIP12_ENST00000389045.3_Missense_Mutation_p.L1609V	p.L1879V	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	39	5813	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1879					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.5635C>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212750	0.58452	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044;ENST00000418123	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.44	-0.794	0.10918	HECT (4);	0.000000	0.64402	D	0.000001	T	0.73225	0.3560	M	0.67569	2.06	0.80722	D	1	D;D;D	0.57257	0.979;0.979;0.979	D;D;D	0.71414	0.973;0.973;0.973	T	0.74708	-0.3574	10	0.87932	D	0	.	13.2114	0.59828	0.301:0.0:0.699:0.0	.	1609;1927;1879	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	V	1879;1609;1927;139	ENSP00000283943:L1879V;ENSP00000373697:L1609V;ENSP00000373696:L1927V;ENSP00000408330:L139V	ENSP00000283943:L1879V	L	-	1	2	TRIP12	230342234	0.013000	0.17824	0.720000	0.30636	0.948000	0.59901	0.264000	0.18497	-0.114000	0.11936	0.313000	0.20887	CTG		0.423	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		4	310	0	0	0	1	0	4	310				
SLCO2A1	6578	broad.mit.edu	37	3	133670117	133670117	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:133670117C>A	ENST00000310926.4	-	6	1069	c.796G>T	c.(796-798)Gct>Tct	p.A266S	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A190S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	266					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	ACCAATAAAGCTGAAGAAATG	0.498																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(796-798)Gct>Tct		solute carrier organic anion transporter family, member 2A1							87.0	91.0	89.0					3																	133670117		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133670117C>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.796G>T	3.37:g.133670117C>A	ENSP00000311291:p.Ala266Ser					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A190S	p.A266S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			6	1069	-			266					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.796G>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194816	0.38806	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.60548	0.18;0.18	4.79	4.79	0.61399	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.299086	0.35870	N	0.002933	T	0.43322	0.1242	L	0.37697	1.125	0.09310	N	0.999998	P;P;B	0.44195	0.828;0.549;0.383	B;B;B	0.34038	0.167;0.13;0.174	T	0.40813	-0.9543	10	0.13853	T	0.58	.	17.826	0.88665	0.0:1.0:0.0:0.0	.	266;190;266	F8W9W8;E7EU40;Q92959	.;.;SO2A1_HUMAN	S	266;190	ENSP00000311291:A266S;ENSP00000418893:A190S	ENSP00000311291:A266S	A	-	1	0	SLCO2A1	135152807	0.329000	0.24696	0.164000	0.22755	0.257000	0.26127	3.713000	0.54882	2.203000	0.70933	0.514000	0.50259	GCT		0.498	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		69	78	1	0	3.07184e-27	1	3.07184e-27	69	78				
OR5L1	219437	broad.mit.edu	37	11	55579457	55579457	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:55579457A>T	ENST00000333973.2	+	1	604	c.515A>T	c.(514-516)aAt>aTt	p.N172I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	172						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(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TATAGATCTAATGTGATTAAC	0.458																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(514-516)aAt>aTt		olfactory receptor, family 5, subfamily L, member 1							230.0	211.0	217.0					11																	55579457		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579457A>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.515A>T	11.37:g.55579457A>T	ENSP00000335529:p.Asn172Ile						p.N172I	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	604	+		all_epithelial(135;0.208)	172					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.515A>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	a	17.02	3.283259	0.59867	.	.	ENSG00000186117	ENST00000333973	T	0.00262	8.4	4.12	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.109140	0.41001	D	0.000980	T	0.00552	0.0018	M	0.92833	3.35	0.09310	N	1	D	0.57257	0.979	D	0.67103	0.949	T	0.34179	-0.9839	10	0.87932	D	0	-31.0195	3.8746	0.09051	0.7081:0.0:0.104:0.1879	.	172	Q8NGL2	OR5L1_HUMAN	I	172	ENSP00000335529:N172I	ENSP00000335529:N172I	N	+	2	0	OR5L1	55336033	0.000000	0.05858	0.005000	0.12908	0.622000	0.37654	0.866000	0.27954	1.529000	0.49120	0.352000	0.21897	AAT		0.458	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		197	262	0	0	0	1	0	197	262				
ROBO3	64221	broad.mit.edu	37	11	124744124	124744124	+	Missense_Mutation	SNP	G	G	A	rs201985175	byFrequency	TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:124744124G>A	ENST00000397801.1	+	12	2135	c.1943G>A	c.(1942-1944)cGt>cAt	p.R648H	ROBO3_ENST00000538940.1_Missense_Mutation_p.R626H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	648	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GAGCCTGTCCGTACACAGGGT	0.557													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19368	0.0		0.001	False		,,,				2504	0.0					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1942-1944)cGt>cAt		roundabout, axon guidance receptor, homolog 3 (Drosophila)		G	HIS/ARG	1,4107		0,1,2053	37.0	41.0	40.0		1943	0.2	1.0	11		40	4,8366		0,4,4181	yes	missense	ROBO3	NM_022370.3	29	0,5,6234	AA,AG,GG		0.0478,0.0243,0.0401	possibly-damaging	648/1387	124744124	5,12473	2054	4185	6239	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124744124G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1943G>A	11.37:g.124744124G>A	ENSP00000380903:p.Arg648His					ROBO3_ENST00000538940.1_Missense_Mutation_p.R626H	p.R648H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	12	2135	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	648						Missense_Mutation	SNP	ENST00000397801.1	37	c.1943G>A	CCDS44755.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.68	2.905297	0.52333	2.43E-4	4.78E-4	ENSG00000154134	ENST00000397801;ENST00000538940	D;D	0.82711	-1.64;-1.64	5.14	0.251	0.15540	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.589540	0.13441	N	0.387666	T	0.79233	0.4411	L	0.36672	1.1	0.80722	D	1	D	0.59357	0.985	P	0.53224	0.721	T	0.74940	-0.3493	10	0.72032	D	0.01	.	5.4017	0.16299	0.3243:0.0:0.5333:0.1424	.	648	Q96MS0	ROBO3_HUMAN	H	648;626	ENSP00000380903:R648H;ENSP00000441797:R626H	ENSP00000380903:R648H	R	+	2	0	ROBO3	124249334	1.000000	0.71417	0.991000	0.47740	0.916000	0.54674	3.211000	0.51137	0.167000	0.19631	0.655000	0.94253	CGT		0.557	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		4	100	0	0	0	1	0	4	100				
GADL1	339896	broad.mit.edu	37	3	30842415	30842415	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:30842415C>G	ENST00000282538.5	-	12	1366	c.1216G>C	c.(1216-1218)Gaa>Caa	p.E406Q	GADL1_ENST00000454381.3_Missense_Mutation_p.E406Q	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	406					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						ACTCTTTCTTCAAGGCCTAAT	0.468																																						ENST00000454381.3																			0				breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						c.(1216-1218)Gaa>Caa		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						132.0	123.0	126.0					3																	30842415		2203	4300	6503	SO:0001583	missense	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30842415C>G	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.1216G>C	3.37:g.30842415C>G	ENSP00000282538:p.Glu406Gln					GADL1_ENST00000282538.5_Missense_Mutation_p.E406Q	p.E406Q			Q6ZQY3	GADL1_HUMAN			12	1262	-			406						Missense_Mutation	SNP	ENST00000282538.5	37	c.1216G>C	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462486	0.84425	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.35973	1.28;1.28	5.47	5.47	0.80525	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.113510	0.56097	D	0.000031	T	0.52964	0.1767	M	0.62723	1.935	0.45087	D	0.998109	D	0.53619	0.961	P	0.54815	0.761	T	0.51012	-0.8759	10	0.48119	T	0.1	.	19.3171	0.94218	0.0:1.0:0.0:0.0	.	406	Q6ZQY3	GADL1_HUMAN	Q	406	ENSP00000282538:E406Q;ENSP00000427059:E406Q	ENSP00000282538:E406Q	E	-	1	0	GADL1	30817419	0.999000	0.42202	1.000000	0.80357	0.893000	0.52053	4.279000	0.58953	2.571000	0.86741	0.585000	0.79938	GAA		0.468	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		51	87	0	0	0	1	0	51	87				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			58	92	0	0	0	1	0	58	92				
HUWE1	10075	broad.mit.edu	37	X	53613509	53613509	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chrX:53613509G>A	ENST00000342160.3	-	38	5222	c.4765C>T	c.(4765-4767)Ctg>Ttg	p.L1589L	HUWE1_ENST00000262854.6_Silent_p.L1589L|HUWE1_ENST00000218328.8_Silent_p.L1589L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1589					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAATCAATCAGGAGCAACACT	0.383																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(4765-4767)Ctg>Ttg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							83.0	69.0	74.0					X																	53613509		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53613509G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4765C>T	X.37:g.53613509G>A						HUWE1_ENST00000262854.6_Silent_p.L1589L|HUWE1_ENST00000218328.8_Silent_p.L1589L	p.L1589L			Q7Z6Z7	HUWE1_HUMAN			38	5222	-			1589					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.4765C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	9.254	1.041580	0.19669	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.07	3.3	0.37823	.	.	.	.	.	T	0.57257	0.2041	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49698	-0.8912	4	.	.	.	.	7.7037	0.28638	0.2748:0.0:0.7252:0.0	.	.	.	.	L	622	.	.	P	-	2	0	HUWE1	53630234	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	2.386000	0.44380	0.391000	0.25143	0.600000	0.82982	CCT		0.383	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	39	0	0	0	1	0	4	39				
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11.0	16.0	14.0					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	72	0	0	0	1	0	5	72				
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	rs377381152		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433																																						ENST00000344419.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(607-609)Gca>Aca		iodotyrosine deiodinase		A	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122.0	109.0	113.0		607,607,607	2.1	0.0	6		113	0,8600		0,0,4300	no	missense,missense,missense	IYD	NM_001164694.1,NM_001164695.1,NM_203395.2	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	203/294,203/248,203/290	150715311	1,13005	2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150715311G>A	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.607G>A	6.37:g.150715311G>A	ENSP00000343763:p.Ala203Thr					IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T	p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	4	747	+		Ovarian(120;0.028)	203					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.607G>A	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA		0.433	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		4	224	0	0	0	1	0	4	224				
MS4A8	83661	broad.mit.edu	37	11	60482560	60482560	+	Missense_Mutation	SNP	G	G	A	rs201465289		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:60482560G>A	ENST00000300226.2	+	6	804	c.601G>A	c.(601-603)Gca>Aca	p.A201T		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	201						integral component of membrane (GO:0016021)											CATCGCATGCGCATCTTCCCA	0.562																																						ENST00000300226.2																			0											c.(601-603)Gca>Aca		membrane-spanning 4-domains, subfamily A, member 8							177.0	134.0	148.0					11																	60482560		2203	4300	6503	SO:0001583	missense	83661							g.chr11:60482560G>A	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.601G>A	11.37:g.60482560G>A	ENSP00000300226:p.Ala201Thr						p.A201T	NM_031457.1	NP_113645.1					6	804	+								Q8TCA5	Missense_Mutation	SNP	ENST00000300226.2	37	c.601G>A	CCDS7990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.73|11.73	1.724809|1.724809	0.30593|0.30593	.|.	.|.	ENSG00000166959|ENSG00000166959	ENST00000300226|ENST00000529752	T|T	0.02323|0.15952	4.34|2.38	4.49|4.49	-8.6|-8.6	0.00889|0.00889	.|.	1.772610|.	0.02484|.	N|.	0.088792|.	T|T	0.07503|0.07503	0.0189|0.0189	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.48736|0.48736	-0.9009|-0.9009	10|7	0.25106|0.72032	T|D	0.35|0.01	-0.0046|-0.0046	9.7665|9.7665	0.40563|0.40563	0.2456:0.0:0.6272:0.1272|0.2456:0.0:0.6272:0.1272	.|.	201|.	Q9BY19|.	M4A8B_HUMAN|.	T|H	201|183	ENSP00000300226:A201T|ENSP00000436857:R183H	ENSP00000300226:A201T|ENSP00000436857:R183H	A|R	+|+	1|2	0|0	MS4A8B|MS4A8B	60239136|60239136	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.277000|-1.277000	0.02812|0.02812	-1.298000|-1.298000	0.02348|0.02348	-0.940000|-0.940000	0.02684|0.02684	GCA|CGC		0.562	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			5	382	0	0	0	1	0	5	382				
CNKSR2	22866	broad.mit.edu	37	X	21627189	21627189	+	Splice_Site	SNP	A	A	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chrX:21627189A>G	ENST00000379510.3	+	20	2182	c.2146A>G	c.(2146-2148)Atg>Gtg	p.M716V	CNKSR2_ENST00000279451.4_Splice_Site_p.M716V|CNKSR2_ENST00000425654.2_Splice_Site_p.M686V|CNKSR2_ENST00000543067.1_Splice_Site_p.M667V	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	716					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CTTTCTACAGATGAGTTGCGC	0.453																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.e19-1		connector enhancer of kinase suppressor of Ras 2							40.0	40.0	40.0					X																	21627189		2203	4300	6503	SO:0001630	splice_region_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627189A>G	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2146-1A>G	X.37:g.21627189A>G						CNKSR2_ENST00000379510.3_Splice_Site_p.M716_splice|CNKSR2_ENST00000279451.4_Splice_Site_p.M716_splice|CNKSR2_ENST00000543067.1_Splice_Site_p.M667_splice	p.M686_splice	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	2536	+			716					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Splice_Site	SNP	ENST00000379510.3	37	c.2055_splice	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	A	1.332	-0.596443	0.03771	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.16324	2.66;2.36;2.35;2.65	5.63	5.63	0.86233	.	0.043371	0.85682	D	0.000000	T	0.10078	0.0247	N	0.10874	0.06	0.44447	D	0.997371	B;B;B;B	0.09022	0.0;0.0;0.002;0.0	B;B;B;B	0.08055	0.0;0.0;0.003;0.001	T	0.21381	-1.0247	9	.	.	.	-4.1559	14.8033	0.69932	1.0:0.0:0.0:0.0	.	686;667;308;716	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	V	686;667;716;716	ENSP00000397906:M686V;ENSP00000444633:M667V;ENSP00000279451:M716V;ENSP00000368824:M716V	.	M	+	1	0	CNKSR2	21537110	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.247000	0.72411	1.877000	0.54381	0.481000	0.45027	ATG		0.453	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	Missense_Mutation	11	43	0	0	0	1	0	11	43				
GK2	2712	broad.mit.edu	37	4	80329160	80329160	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:80329160G>A	ENST00000358842.3	-	1	212	c.195C>T	c.(193-195)taC>taT	p.Y65Y		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.Y65Y(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTATACACTCGTAGACAGACT	0.408																																						ENST00000358842.3																			1	Substitution - coding silent(1)	p.Y65Y(1)	large_intestine(1)	autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(193-195)taC>taT		glycerol kinase 2							179.0	175.0	176.0					4																	80329160		2203	4300	6503	SO:0001819	synonymous_variant	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80329160G>A	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.195C>T	4.37:g.80329160G>A							p.Y65Y	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	212	-			65					Q7Z4Q4	Silent	SNP	ENST00000358842.3	37	c.195C>T	CCDS3585.1																																																																																				0.408	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		7	336	0	0	0	1	0	7	336				
C5	727	broad.mit.edu	37	9	123732466	123732466	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr9:123732466C>T	ENST00000223642.1	-	32	4173	c.4144G>A	c.(4144-4146)Gat>Aat	p.D1382N		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1382					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TCCTGAGTATCGATTTTCAAA	0.338																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(4144-4146)Gat>Aat		complement component 5	Eculizumab(DB01257)						111.0	103.0	106.0					9																	123732466		2202	4300	6502	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123732466C>T	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4144G>A	9.37:g.123732466C>T	ENSP00000223642:p.Asp1382Asn						p.D1382N	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	32	4173	-			1382					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.4144G>A	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175630	0.38413	.	.	ENSG00000106804	ENST00000223642	T	0.29655	1.56	5.42	5.42	0.78866	Alpha-macroglobulin, receptor-binding (2);	0.345140	0.33309	N	0.005044	T	0.25158	0.0611	L	0.43152	1.355	0.37185	D	0.903696	P	0.37158	0.585	B	0.25140	0.058	T	0.24728	-1.0152	10	0.52906	T	0.07	.	15.9314	0.79663	0.0:1.0:0.0:0.0	.	1382	P01031	CO5_HUMAN	N	1382	ENSP00000223642:D1382N	ENSP00000223642:D1382N	D	-	1	0	C5	122772287	0.972000	0.33761	0.947000	0.38551	0.367000	0.29736	2.123000	0.41996	2.540000	0.85666	0.655000	0.94253	GAT		0.338	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		36	47	0	0	0	1	0	36	47				
TRAPPC13	80006	broad.mit.edu	37	5	64948338	64948338	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr5:64948338C>T	ENST00000399438.3	+	7	857	c.512C>T	c.(511-513)cCa>cTa	p.P171L	TRAPPC13_ENST00000231526.4_Missense_Mutation_p.P171L|TRAPPC13_ENST00000505553.1_Missense_Mutation_p.P171L|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.P171L|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.P171L	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	171																	GTTCTCAAACCATTGGATGTG	0.289																																						ENST00000399438.3																			0											c.(511-513)cCa>cTa		trafficking protein particle complex 13							102.0	102.0	102.0					5																	64948338		1812	4069	5881	SO:0001583	missense	80006							g.chr5:64948338C>T		CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"""Trs65-related"""		"""chromosome 5 open reading frame 44"""	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.512C>T	5.37:g.64948338C>T	ENSP00000382367:p.Pro171Leu					TRAPPC13_ENST00000505553.1_Missense_Mutation_p.P171L|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.P171L|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.P171L|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.P171L	p.P171L	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2					7	857	+								Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Missense_Mutation	SNP	ENST00000399438.3	37	c.512C>T	CCDS47222.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036114	0.93630	.	.	ENSG00000113597	ENST00000399438;ENST00000438419;ENST00000231526;ENST00000505553;ENST00000545191	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.85150	0.5631	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.87132	0.2197	9	0.87932	D	0	-15.0716	19.6798	0.95958	0.0:1.0:0.0:0.0	.	171;171;171;171	A5PLN9-4;A5PLN9-2;A5PLN9-5;A5PLN9	.;.;.;CE044_HUMAN	L	171	.	ENSP00000231526:P171L	P	+	2	0	C5orf44	64984094	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.642000	0.89623	0.467000	0.42956	CCA		0.289	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1	NM_024941		31	95	0	0	0	1	0	31	95				
PPP1R36	145376	broad.mit.edu	37	14	65054839	65054839	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr14:65054839G>A	ENST00000298705.1	+	11	1004	c.908G>A	c.(907-909)cGc>cAc	p.R303H	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	303					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										ATGGCAAAACGCCCAGCAATT	0.448																																						ENST00000298705.1																			0											c.(907-909)cGc>cAc		protein phosphatase 1, regulatory subunit 36							89.0	89.0	89.0					14																	65054839		2203	4300	6503	SO:0001583	missense	145376							g.chr14:65054839G>A		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20097	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 50"""	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.908G>A	14.37:g.65054839G>A	ENSP00000298705:p.Arg303His					RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	p.R303H	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN			11	1004	+			303					Q6NTH6	Missense_Mutation	SNP	ENST00000298705.1	37	c.908G>A	CCDS9767.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367222	0.61513	.	.	ENSG00000165807	ENST00000298705	T	0.32753	1.44	5.36	5.36	0.76844	.	0.091871	0.48286	D	0.000182	T	0.30572	0.0769	L	0.53729	1.69	0.39210	D	0.963299	P	0.52463	0.953	B	0.39935	0.314	T	0.31641	-0.9936	10	0.72032	D	0.01	-11.7713	14.5878	0.68339	0.0:0.0:1.0:0.0	.	303	Q96LQ0	PPR36_HUMAN	H	303	ENSP00000298705:R303H	ENSP00000298705:R303H	R	+	2	0	C14orf50	64124592	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.727000	0.61993	2.489000	0.83994	0.655000	0.94253	CGC		0.448	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365		5	188	0	0	0	1	0	5	188				
GPR98	84059	broad.mit.edu	37	5	89949350	89949350	+	Missense_Mutation	SNP	G	G	A	rs373945216		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr5:89949350G>A	ENST00000405460.2	+	20	4055	c.3959G>A	c.(3958-3960)cGt>cAt	p.R1320H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1320				R -> G (in Ref. 2; AAL30811). {ECO:0000305}.	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACATGCGGCGTCACCACAGT	0.463																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(3958-3960)cGt>cAt		G protein-coupled receptor 98		A	HIS/ARG	1,3919		0,1,1959	121.0	111.0	114.0		3959	1.6	0.9	5		114	0,8270		0,0,4135	no	missense	GPR98	NM_032119.3	29	0,1,6094	AA,AG,GG		0.0,0.0255,0.0082	benign	1320/6307	89949350	1,12189	1960	4135	6095	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89949350G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3959G>A	5.37:g.89949350G>A	ENSP00000384582:p.Arg1320His						p.R1320H	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	20	4055	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1320	R -> G (in Ref. 2; AAL30811).				O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.3959G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	g	8.538	0.872618	0.17322	2.55E-4	0.0	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.02158	4.42	5.38	1.62	0.23740	Concanavalin A-like lectin/glucanase (1);	0.095409	0.64402	N	0.000001	T	0.02533	0.0077	L	0.41236	1.265	0.80722	D	1	B	0.22541	0.071	B	0.19391	0.025	T	0.51411	-0.8709	10	0.49607	T	0.09	.	10.96	0.47379	0.2523:0.0:0.7477:0.0	.	1320	Q8WXG9	GPR98_HUMAN	H	1320	ENSP00000384582:R1320H	ENSP00000296619:R1320H	R	+	2	0	GPR98	89985106	0.998000	0.40836	0.878000	0.34440	0.029000	0.11900	3.230000	0.51286	0.081000	0.16988	-1.658000	0.00752	CGT		0.463	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		33	61	0	0	0	1	0	33	61				
CACNA1G	8913	broad.mit.edu	37	17	48677187	48677187	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:48677187G>A	ENST00000359106.5	+	17	3657	c.3657G>A	c.(3655-3657)ctG>ctA	p.L1219L	CACNA1G_ENST00000512389.1_Silent_p.L1219L|CACNA1G_ENST00000507336.1_Silent_p.L1219L|CACNA1G_ENST00000513964.1_Silent_p.L1219L|CACNA1G_ENST00000503485.1_Silent_p.L1219L|CACNA1G_ENST00000510115.1_Silent_p.L1196L|CACNA1G_ENST00000507609.1_Silent_p.L1219L|CACNA1G_ENST00000507896.1_Silent_p.L1219L|CACNA1G_ENST00000513689.2_Silent_p.L1219L|CACNA1G_ENST00000352832.5_Silent_p.L1196L|CACNA1G_ENST00000507510.2_Silent_p.L1219L|CACNA1G_ENST00000442258.2_Silent_p.L1196L|CACNA1G_ENST00000429973.2_Silent_p.L1219L|CACNA1G_ENST00000514079.1_Silent_p.L1219L|CACNA1G_ENST00000515411.1_Silent_p.L1219L|CACNA1G_ENST00000515765.1_Silent_p.L1219L|CACNA1G_ENST00000514181.1_Silent_p.L1219L|CACNA1G_ENST00000515165.1_Silent_p.L1219L|CACNA1G_ENST00000502264.1_Silent_p.L1196L|CACNA1G_ENST00000505165.1_Silent_p.L1219L|CACNA1G_ENST00000360761.4_Silent_p.L1196L|CACNA1G_ENST00000416767.4_Silent_p.L1219L|CACNA1G_ENST00000514717.1_Silent_p.L1196L|CACNA1G_ENST00000510366.1_Silent_p.L1219L|CACNA1G_ENST00000354983.4_Silent_p.L1196L|CACNA1G_ENST00000358244.5_Silent_p.L1196L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1219					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACCCCCCACTGGATGGGGATG	0.672																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3586-3588)ctG>ctA		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						22.0	26.0	24.0					17																	48677187		1993	4143	6136	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48677187G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3657G>A	17.37:g.48677187G>A						CACNA1G_ENST00000510115.1_Silent_p.L1196L|CACNA1G_ENST00000515165.1_Silent_p.L1219L|CACNA1G_ENST00000359106.5_Silent_p.L1219L|CACNA1G_ENST00000514079.1_Silent_p.L1219L|CACNA1G_ENST00000507510.2_Silent_p.L1219L|CACNA1G_ENST00000507609.1_Silent_p.L1219L|CACNA1G_ENST00000507336.1_Silent_p.L1219L|CACNA1G_ENST00000514181.1_Silent_p.L1219L|CACNA1G_ENST00000513964.1_Silent_p.L1219L|CACNA1G_ENST00000512389.1_Silent_p.L1219L|CACNA1G_ENST00000513689.2_Silent_p.L1219L|CACNA1G_ENST00000358244.5_Silent_p.L1196L|CACNA1G_ENST00000507896.1_Silent_p.L1219L|CACNA1G_ENST00000514717.1_Silent_p.L1196L|CACNA1G_ENST00000515411.1_Silent_p.L1219L|CACNA1G_ENST00000442258.2_Silent_p.L1196L|CACNA1G_ENST00000416767.4_Silent_p.L1219L|CACNA1G_ENST00000515765.1_Silent_p.L1219L|CACNA1G_ENST00000502264.1_Silent_p.L1196L|CACNA1G_ENST00000503485.1_Silent_p.L1219L|CACNA1G_ENST00000505165.1_Silent_p.L1219L|CACNA1G_ENST00000510366.1_Silent_p.L1219L|CACNA1G_ENST00000429973.2_Silent_p.L1219L|CACNA1G_ENST00000360761.4_Silent_p.L1196L|CACNA1G_ENST00000354983.4_Silent_p.L1196L	p.L1196L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		16	3960	+	Breast(11;6.7e-17)		1219					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.3588G>A	CCDS45730.1																																																																																				0.672	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		21	53	0	0	0	1	0	21	53				
HLA-DQA1	3117	broad.mit.edu	37	6	32609784	32609784	+	Missense_Mutation	SNP	G	G	A	rs368821483		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:32609784G>A	ENST00000343139.5	+	3	469	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.V123M|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.V123M	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	122	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAAGTCTCCCGTGACACTGGG	0.502																																						ENST00000343139.5																			0				NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(367-369)Gtg>Atg		major histocompatibility complex, class II, DQ alpha 1		G	MET/VAL	0,3020		0,0,1510	150.0	114.0	127.0		367	2.3	0.0	6		127	1,5417		0,1,2708	no	missense	HLA-DQA1	NM_002122.3	21	0,1,4218	AA,AG,GG		0.0185,0.0,0.0119	benign	123/256	32609784	1,8437	1510	2709	4219	SO:0001583	missense	3117				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32609784G>A		CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.367G>A	6.37:g.32609784G>A	ENSP00000339398:p.Val123Met					HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.V123M|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.V123M	p.V123M	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN			3	469	+			122			Alpha-2.|Ig-like C1-type.		O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Missense_Mutation	SNP	ENST00000343139.5	37	c.367G>A	CCDS4752.1	.	.	.	.	.	.	.	.	.	.	.	5.827	0.336813	0.11013	0.0	1.85E-4	ENSG00000196735	ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949	T;T;T;T	0.03094	4.05;4.05;4.05;4.05	4.1	2.29	0.28610	.	0.077621	0.51477	N	0.000100	T	0.02230	0.0069	M	0.84219	2.685	0.29971	N	0.818569	P;B	0.40083	0.702;0.123	B;B	0.35688	0.208;0.036	T	0.30563	-0.9974	10	0.59425	D	0.04	.	6.8041	0.23768	0.0961:0.0:0.7292:0.1747	.	129;123	Q59F33;G4XQK2	.;.	M	123	ENSP00000339398:V123M;ENSP00000378767:V123M;ENSP00000437302:V123M;ENSP00000364087:V123M	ENSP00000339398:V123M	V	+	1	0	HLA-DQA1	32717762	0.999000	0.42202	0.046000	0.18839	0.075000	0.17131	3.442000	0.52900	0.497000	0.27926	0.655000	0.94253	GTG		0.502	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		16	81	0	0	0	1	0	16	81				
ZMAT1	84460	broad.mit.edu	37	X	101138798	101138798	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chrX:101138798T>C	ENST00000372782.3	-	7	1648	c.1601A>G	c.(1600-1602)cAt>cGt	p.H534R	ZMAT1_ENST00000458570.1_Missense_Mutation_p.H363R|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.H534R	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	534						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTTCTGTTTATGACCTGCTTG	0.388																																						ENST00000372782.3																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(1600-1602)cAt>cGt		zinc finger, matrin-type 1							173.0	142.0	152.0					X																	101138798		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101138798T>C	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1601A>G	X.37:g.101138798T>C	ENSP00000361868:p.His534Arg					ZMAT1_ENST00000540921.1_Missense_Mutation_p.H534R|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.H363R	p.H534R	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN			7	1648	-			363					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.1601A>G	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	T	8.933	0.963924	0.18583	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.23552	2.51;2.51;1.9	4.37	2.01	0.26516	.	0.872217	0.10150	N	0.709808	T	0.26195	0.0639	M	0.66939	2.045	0.19300	N	0.99997	B	0.10296	0.003	B	0.10450	0.005	T	0.29366	-1.0014	10	0.51188	T	0.08	-1.0672	5.6841	0.17792	0.0:0.3445:0.0:0.6555	.	534	Q5H9K5	ZMAT1_HUMAN	R	534;534;363	ENSP00000361868:H534R;ENSP00000437529:H534R;ENSP00000413044:H363R	ENSP00000361868:H534R	H	-	2	0	ZMAT1	101025454	0.991000	0.36638	0.170000	0.22879	0.935000	0.57460	1.380000	0.34351	0.294000	0.22547	0.486000	0.48141	CAT		0.388	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			51	41	0	0	0	1	0	51	41				
DNAH9	1770	broad.mit.edu	37	17	11684410	11684410	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:11684410A>G	ENST00000262442.4	+	39	7705	c.7637A>G	c.(7636-7638)gAc>gGc	p.D2546G	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2546G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2546	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCATTGATGACATGAACATG	0.547																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7636-7638)gAc>gGc		dynein, axonemal, heavy chain 9							64.0	54.0	58.0					17																	11684410		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11684410A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7637A>G	17.37:g.11684410A>G	ENSP00000262442:p.Asp2546Gly					DNAH9_ENST00000454412.2_Missense_Mutation_p.D2546G	p.D2546G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	39	7705	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2546			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7637A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599729	0.87055	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.47528	0.84;0.84	5.08	5.08	0.68730	ATPase, AAA+ type, core (1);	0.135950	0.48286	D	0.000189	D	0.82674	0.5088	H	0.99689	4.705	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.90686	0.4609	10	0.87932	D	0	.	15.1359	0.72566	1.0:0.0:0.0:0.0	.	2546	Q9NYC9	DYH9_HUMAN	G	2546;2546;1128	ENSP00000262442:D2546G;ENSP00000414874:D2546G	ENSP00000262442:D2546G	D	+	2	0	DNAH9	11625135	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.244000	0.95423	2.043000	0.60533	0.519000	0.50382	GAC		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	75	0	0	0	1	0	3	75				
ZNF117	51351	broad.mit.edu	37	7	64439187	64439187	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:64439187G>A	ENST00000282869.6	-	4	2046	c.762C>T	c.(760-762)tgC>tgT	p.C254C		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	254					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AAGCTTTGCCGCATTCTTCAC	0.368																																						ENST00000282869.5																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22						c.(760-762)tgC>tgT		zinc finger protein 117							63.0	67.0	66.0					7																	64439187		2198	4299	6497	SO:0001819	synonymous_variant	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64439187G>A	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.762C>T	7.37:g.64439187G>A							p.C254C	NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN			4	2046	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	254					Q02313|Q7Z7Q7	Silent	SNP	ENST00000282869.6	37	c.762C>T	CCDS43593.1																																																																																				0.368	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		4	190	0	0	0	1	0	4	190				
TAS2R60	338398	broad.mit.edu	37	7	143140842	143140842	+	Silent	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:143140842G>A	ENST00000332690.1	+	1	297	c.297G>A	c.(295-297)caG>caA	p.Q99Q	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	99					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TAGCTTTCCAGTGGGACTTCC	0.483																																						ENST00000332690.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31						c.(295-297)caG>caA		taste receptor, type 2, member 60							164.0	145.0	151.0					7																	143140842		2203	4300	6503	SO:0001819	synonymous_variant	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140842G>A	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.297G>A	7.37:g.143140842G>A						EPHA1-AS1_ENST00000429289.1_RNA	p.Q99Q	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN			1	297	+	Melanoma(164;0.172)		99					A4D2G8|Q645W8|Q7RTR7	Silent	SNP	ENST00000332690.1	37	c.297G>A	CCDS5885.1																																																																																				0.483	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			85	216	0	0	0	1	0	85	216				
RLN2	6019	broad.mit.edu	37	9	5304440	5304440	+	Silent	SNP	G	G	A	rs544671340		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr9:5304440G>A	ENST00000381627.3	-	1	529	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RLN2_ENST00000308420.3_Silent_p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	47					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TGCTCATGCCGCAAATGGCAA	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18840	0.0		0.0	False		,,,				2504	0.0					ENST00000381627.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11						c.(139-141)tgC>tgT		relaxin 2							41.0	42.0	42.0					9																	5304440		2203	4297	6500	SO:0001819	synonymous_variant	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5304440G>A		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.141C>T	9.37:g.5304440G>A						RLN2_ENST00000308420.3_Silent_p.C47C	p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	1	529	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	47					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Silent	SNP	ENST00000381627.3	37	c.141C>T	CCDS6460.1																																																																																				0.552	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		4	120	0	0	0	1	0	4	120				
TFAP2A	7020	broad.mit.edu	37	6	10398786	10398786	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:10398786G>A	ENST00000482890.1	-	8	1530	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	TFAP2A_ENST00000379608.3_Missense_Mutation_p.A387V|TFAP2A_ENST00000379604.2_Missense_Mutation_p.A393V|TFAP2A_ENST00000497266.1_5'Flank|TFAP2A_ENST00000379613.3_Missense_Mutation_p.A395V|TFAP2A_ENST00000319516.4_Missense_Mutation_p.A389V			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	393	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II 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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CGTGACCGCGGCACACACCGC	0.627																																						ENST00000379613.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1183-1185)gCc>gTc		transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)							167.0	182.0	177.0					6																	10398786		2203	4300	6503	SO:0001583	missense	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10398786G>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.1178C>T	6.37:g.10398786G>A	ENSP00000418541:p.Ala393Val					TFAP2A_ENST00000319516.4_Missense_Mutation_p.A389V|TFAP2A_ENST00000379604.2_Missense_Mutation_p.A393V|TFAP2A_ENST00000482890.1_Missense_Mutation_p.A393V|TFAP2A_ENST00000379608.3_Missense_Mutation_p.A387V	p.A395V			P05549	AP2A_HUMAN			7	1440	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	393			H-S-H (helix-span-helix), dimerization.		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	c.1184C>T	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422711	0.83559	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890	D;D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32;-4.32	5.23	5.23	0.72850	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	0.999;0.99;1.0	D;P;D	0.91635	0.992;0.891;0.999	D	0.99790	1.1031	10	0.87932	D	0	-8.7272	18.824	0.92109	0.0:0.0:1.0:0.0	.	389;393;387	Q5TAV5;P05549;Q8N1C6	.;AP2A_HUMAN;.	V	395;393;389;387;393	ENSP00000368933:A395V;ENSP00000368924:A393V;ENSP00000316516:A389V;ENSP00000368928:A387V;ENSP00000418541:A393V	ENSP00000316516:A389V	A	-	2	0	TFAP2A	10506772	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.863000	0.99569	2.438000	0.82558	0.655000	0.94253	GCC		0.627	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		5	625	0	0	0	1	0	5	625				
HOXB2	3212	broad.mit.edu	37	17	46620496	46620496	+	Silent	SNP	A	A	G			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:46620496A>G	ENST00000330070.4	-	2	2172	c.1005T>C	c.(1003-1005)ccT>ccC	p.P335P	HOXB2_ENST00000504772.3_5'UTR|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	335					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P335P(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCTCGGAAAAAGGGACCGGGC	0.587																																						ENST00000330070.4																			2	Substitution - coding silent(2)	p.P335P(2)	lung(2)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(1003-1005)ccT>ccC		homeobox B2							80.0	83.0	82.0					17																	46620496		2203	4300	6503	SO:0001819	synonymous_variant	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46620496A>G		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.1005T>C	17.37:g.46620496A>G						HOXB2_ENST00000504772.3_5'UTR	p.P335P	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			2	2172	-			335					P10913|P17485	Silent	SNP	ENST00000330070.4	37	c.1005T>C	CCDS11527.1																																																																																				0.587	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			5	330	0	0	0	1	0	5	330				
TANGO6	79613	broad.mit.edu	37	16	68941443	68941443	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr16:68941443G>A	ENST00000261778.1	+	10	1777	c.1765G>A	c.(1765-1767)Ggt>Agt	p.G589S		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	589						integral component of membrane (GO:0016021)											CCAGGAATGCGGTTTGGCAGG	0.507																																						ENST00000261778.1																			0											c.(1765-1767)Ggt>Agt		transport and golgi organization 6 homolog (Drosophila)							87.0	84.0	85.0					16																	68941443		1888	4111	5999	SO:0001583	missense	79613							g.chr16:68941443G>A		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.1765G>A	16.37:g.68941443G>A	ENSP00000261778:p.Gly589Ser						p.G589S	NM_024562.1	NP_078838.1					10	1777	+								Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.1765G>A	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908361	0.92107	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.56	5.56	0.83823	Armadillo-type fold (1);	0.044902	0.85682	D	0.000000	T	0.76586	0.4008	M	0.69823	2.125	0.50313	D	0.999863	D	0.89917	1.0	D	0.91635	0.999	T	0.70547	-0.4842	9	0.15952	T	0.53	-18.5037	16.7947	0.85598	0.0:0.0:1.0:0.0	.	589	Q9C0B7	TMCO7_HUMAN	S	589	.	ENSP00000261778:G589S	G	+	1	0	TMCO7	67498944	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	4.730000	0.62015	2.778000	0.95560	0.655000	0.94253	GGT		0.507	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		3	64	0	0	0	1	0	3	64				
POTED	317754	broad.mit.edu	37	21	15013750	15013750	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr21:15013750C>A	ENST00000299443.5	+	11	1670	c.1618C>A	c.(1618-1620)Cta>Ata	p.L540I		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	540						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AAGACTGGAACTAGATGAAAC	0.368																																						ENST00000299443.5																			0				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						c.(1618-1620)Cta>Ata		POTE ankyrin domain family, member D							31.0	44.0	40.0					21																	15013750		1422	3634	5056	SO:0001583	missense	317754					plasma membrane		g.chr21:15013750C>A	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1618C>A	21.37:g.15013750C>A	ENSP00000299443:p.Leu540Ile						p.L540I	NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN			11	1670	+			540					C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	c.1618C>A	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.179343	0.00308	.	.	ENSG00000166351	ENST00000299443	T	0.12361	2.69	2.1	-1.06	0.10002	.	.	.	.	.	T	0.04770	0.0129	N	0.04355	-0.22	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.45264	-0.9273	9	0.07990	T	0.79	.	7.7804	0.29062	0.3437:0.6563:0.0:0.0	.	540	Q86YR6	POTED_HUMAN	I	540	ENSP00000299443:L540I	ENSP00000299443:L540I	L	+	1	2	POTED	13935621	0.989000	0.36119	0.017000	0.16124	0.001000	0.01503	0.586000	0.23894	0.079000	0.16929	-0.723000	0.03601	CTA		0.368	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		76	134	1	0	4.03997e-35	1	4.10213e-35	76	134				
EOGT	285203	broad.mit.edu	37	3	69056865	69056865	+	Splice_Site	SNP	G	G	A			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:69056865G>A	ENST00000383701.3	-	6	1161	c.419C>T	c.(418-420)aCg>aTg	p.T140M	EOGT_ENST00000295571.5_Splice_Site_p.T140M|EOGT_ENST00000540955.1_De_novo_Start_OutOfFrame|EOGT_ENST00000540764.1_Splice_Site_p.T39M	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	140					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										AATACCCACCGTTTCCTTAGG	0.403																																						ENST00000540955.1																			0													EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase							106.0	105.0	105.0					3																	69056865		2203	4300	6503	SO:0001630	splice_region_variant	285203							g.chr3:69056865G>A	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.420+1C>T	3.37:g.69056865G>A						EOGT_ENST00000540764.1_Splice_Site_p.T39_splice|EOGT_ENST00000383701.3_Splice_Site_p.T140_splice|EOGT_ENST00000295571.5_Splice_Site_p.T140_splice								0	850	-								A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Translation_Start_Site	SNP	ENST00000383701.3	37			.	.	.	.	.	.	.	.	.	.	G	10.72	1.430896	0.25726	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540764	.	.	.	5.09	-7.07	0.01563	.	0.854162	0.10818	N	0.630782	T	0.32585	0.0834	L	0.43152	1.355	0.24826	N	0.992551	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.002	T	0.14364	-1.0475	9	0.45353	T	0.12	.	8.785	0.34814	0.5818:0.0:0.2371:0.1811	.	140;140	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	M	140;140;39	.	ENSP00000295571:T140M	T	-	2	0	C3orf64	69139555	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-1.437000	0.02419	-1.889000	0.01112	-0.216000	0.12614	ACG		0.403	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654	Missense_Mutation	131	149	0	0	0	1	0	131	149				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				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)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		4	82	0	0	0	1	0	4	82				
ZNRF2P2	100271874	broad.mit.edu	37	7	29699825	29699826	+	RNA	DEL	TT	TT	-	rs57470450		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:29699825_29699826delTT	ENST00000426767.1	-	0	366					NR_024278.1				zinc and ring finger 2 pseudogene 2																		ATTATTGACCTTTTTTTTTTCA	0.252																																						ENST00000426767.1																			0																																																			0							g.chr7:29699825_29699826delTT			7p14.3	2011-08-22			ENSG00000239968	ENSG00000225264			42793	pseudogene	pseudogene							Standard	NR_027347		Approved				OTTHUMG00000152750		7.37:g.29699833_29699834delTT								NR_024278.1						0	366	-									RNA	DEL	ENST00000426767.1	37																																																																																						0.252	ZNRF2P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000327679.1	NR_027347		4	4						4	4	---	---	---	---
COPS6	10980	broad.mit.edu	37	7	99688278	99688281	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:99688278_99688281delGTGA	ENST00000303904.3	+	5	523		c.e5+1		MIR25_ENST00000384816.1_RNA|COPS6_ENST00000418625.1_Splice_Site	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6						cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCACACAGATGTGAGTAATACTCC	0.49																																						ENST00000303904.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12						c.e5+1		COP9 signalosome subunit 6																																				SO:0001630	splice_region_variant	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99688278_99688281delGTGA	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.486+1GTGA>-	7.37:g.99688278_99688281delGTGA						COPS6_ENST00000418625.1_Splice_Site		NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	523	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)							A4D2A3|O15387	Splice_Site	DEL	ENST00000303904.3	37		CCDS5682.1																																																																																				0.490	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833	Intron	57	96						57	96	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-	rs555283914	byFrequency	TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	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			7	167						7	167	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11058447	11058450	+	RNA	DEL	AAAC	AAAC	-	rs369577187		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr21:11058447_11058450delAAAC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAAAATATTAAACAAAGGATTCG	0.294																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058447_11058450delAAAC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058447_11058450delAAAC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.294	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	34						7	34	---	---	---	---
