#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
MAGEA12	4111	broad.mit.edu	37	X	151896589	151896589	+	IGR	SNP	C	C	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:151896589C>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557																																						ENST00000361201.4																			1	Substitution - Missense(1)	p.L11F(1)	kidney(1)	endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	0							g.chrX:151896589C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896589C>A								NR_073432.1						0	351	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		3	69	1	0	0.115264	0.115264	0.120503	3	69				
MYLK	4638	broad.mit.edu	37	3	123444812	123444812	+	Missense_Mutation	SNP	G	G	A	rs552998417	byFrequency	TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:123444812G>A	ENST00000475616.1	-	9	1629	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	MYLK_ENST00000359169.1_Missense_Mutation_p.R544W|MYLK_ENST00000360772.3_Missense_Mutation_p.R544W|MYLK_ENST00000360304.3_Missense_Mutation_p.R544W|MYLK_ENST00000346322.5_Missense_Mutation_p.R475W			Q15746	MYLK_HUMAN	myosin light chain kinase	544	Ig-like C2-type 4.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAAGTGATCCGGGGCACTGGG	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		18135	0.0		0.0	False		,,,				2504	0.002					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1630-1632)Cgg>Tgg		myosin light chain kinase							45.0	48.0	47.0					3																	123444812		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123444812G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1630C>T	3.37:g.123444812G>A	ENSP00000418335:p.Arg544Trp					MYLK_ENST00000475616.1_Missense_Mutation_p.R544W|MYLK_ENST00000360304.3_Missense_Mutation_p.R544W|MYLK_ENST00000359169.1_Missense_Mutation_p.R544W|MYLK_ENST00000346322.5_Missense_Mutation_p.R475W	p.R544W			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	13	2008	-		Lung NSC(201;0.0496)	544			Ig-like C2-type 4.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1630C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015871	0.35606	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	4.81	3.85	0.44370	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66147	0.2760	M	0.66297	2.02	0.18873	N	0.999987	D;P;D;P;D	0.54601	0.959;0.835;0.959;0.835;0.967	B;B;P;B;P	0.46275	0.376;0.326;0.502;0.347;0.51	T	0.61907	-0.6966	9	0.72032	D	0.01	.	7.5948	0.28041	0.1:0.173:0.727:0.0	.	544;475;544;475;544	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	W	544;544;544;475;544	ENSP00000354004:R544W;ENSP00000353452:R544W;ENSP00000352088:R544W;ENSP00000320622:R475W;ENSP00000418335:R544W	ENSP00000320622:R475W	R	-	1	2	MYLK	124927502	0.266000	0.24112	0.753000	0.31225	0.141000	0.21300	1.549000	0.36212	2.506000	0.84524	0.655000	0.94253	CGG		0.617	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		12	19	0	0	0	0.411799	0	12	19				
ZNF630	57232	broad.mit.edu	37	X	47920207	47920207	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:47920207C>A	ENST00000409324.3	-	3	359	c.133G>T	c.(133-135)Gtc>Ttc	p.V45F	ZNF630_ENST00000442455.3_Missense_Mutation_p.V31F|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_5'UTR	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CCCACGGAGACCAGGTGATTA	0.483																																						ENST00000442455.3																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(91-93)Gtc>Ttc		zinc finger protein 630							71.0	54.0	60.0					X																	47920207		1557	3570	5127	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47920207C>A	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.133G>T	X.37:g.47920207C>A	ENSP00000386393:p.Val45Phe					ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_5'UTR|ZNF630_ENST00000409324.3_Missense_Mutation_p.V45F	p.V31F	NM_001190255.1	NP_001177184.1	Q2M218	ZN630_HUMAN			3	434	-			45			KRAB.		F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.91G>T	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	5.944	0.358217	0.11239	.	.	ENSG00000221994	ENST00000442455;ENST00000409324;ENST00000428686	T;T;T	0.02301	4.35;4.35;4.35	2.31	2.31	0.28768	Krueppel-associated box (4);	.	.	.	.	T	0.09335	0.0230	M	0.80746	2.51	0.19300	N	0.999977	D	0.60575	0.988	P	0.62491	0.903	T	0.09037	-1.0693	9	0.72032	D	0.01	.	6.6487	0.22949	0.0:0.7047:0.2953:0.0	.	45	Q2M218	ZN630_HUMAN	F	31;45;45	ENSP00000393163:V31F;ENSP00000386393:V45F;ENSP00000407278:V45F	ENSP00000386393:V45F	V	-	1	0	ZNF630	47805151	0.000000	0.05858	0.090000	0.20809	0.059000	0.15707	0.039000	0.13884	1.202000	0.43218	0.468000	0.43344	GTC		0.483	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		7	4	1	0	0.00198382	0.248553	0.00212222	7	4				
CDK10	8558	broad.mit.edu	37	16	89753130	89753130	+	Silent	SNP	A	A	T	rs192221267	byFrequency	TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr16:89753130A>T	ENST00000353379.7	+	1	55	c.12A>T	c.(10-12)ccA>ccT	p.P4P	CDK10_ENST00000331006.8_Intron|CDK10_ENST00000505473.1_5'UTR|RP11-368I7.4_ENST00000567544.1_5'Flank	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	4					negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TGGCGGAGCCAGATCTGGAGT	0.697													G|||	7	0.00139776	0.0	0.0043	5008	,	,		8092	0.0		0.004	False		,,,				2504	0.0					ENST00000353379.7																			0				ovary(1)	1						c.(10-12)ccA>ccT		cyclin-dependent kinase 10		G	,,,	1,3899		0,1,1949	28.0	36.0	34.0		,,,12	-2.1	0.1	16		34	49,8235		1,47,4094	no	utr-5,utr-5,utr-5,coding-synonymous	CDK10	NM_001098533.2,NM_001160367.1,NM_052987.3,NM_052988.4	,,,	1,48,6043	TT,TA,AA		0.5915,0.0256,0.4104	,,,	,,,4/361	89753130	50,12134	1950	4142	6092	SO:0001819	synonymous_variant	8558				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr16:89753130A>T	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.12A>T	16.37:g.89753130A>T						CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000331006.8_Intron	p.P4P	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0276)	1	55	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	4					A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Silent	SNP	ENST00000353379.7	37	c.12A>T	CCDS10984.2																																																																																				0.697	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			3	6	0	0	0	0.115264	0	3	6				
MAPRE2	10982	broad.mit.edu	37	18	32677539	32677539	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr18:32677539G>T	ENST00000300249.5	+	3	560	c.380G>T	c.(379-381)cGa>cTa	p.R127L	MAPRE2_ENST00000413393.1_Missense_Mutation_p.R84L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.R84L|MAPRE2_ENST00000588910.1_Missense_Mutation_p.R127L|MAPRE2_ENST00000436190.2_Missense_Mutation_p.R115L|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R74L	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	127	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						TCATTTAAGCGAATGAACGTT	0.343																																						ENST00000436190.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(343-345)cGa>cTa		microtubule-associated protein, RP/EB family, member 2							64.0	63.0	63.0					18																	32677539		2203	4300	6503	SO:0001583	missense	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32677539G>T	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.380G>T	18.37:g.32677539G>T	ENSP00000300249:p.Arg127Leu					MAPRE2_ENST00000300249.5_Missense_Mutation_p.R127L|MAPRE2_ENST00000588910.1_Missense_Mutation_p.R127L|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R74L|MAPRE2_ENST00000413393.1_Missense_Mutation_p.R84L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.R84L	p.R115L	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN			4	618	+			127			CH.		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	37	c.344G>T	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124928	0.77436	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.88	5.88	0.94601	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	M	0.69823	2.125	0.58432	D	0.99999	P;D;D;P	0.60575	0.951;0.988;0.979;0.934	P;D;D;P	0.65684	0.857;0.937;0.927;0.543	T	0.63875	-0.6538	10	0.87932	D	0	-9.992	13.4298	0.61049	0.0718:0.0:0.9282:0.0	.	115;74;127;127	E9PHR3;F5H1V8;Q15555;Q15555-2	.;.;MARE2_HUMAN;.	L	84;115;127;74	ENSP00000396074:R84L;ENSP00000407723:R115L;ENSP00000300249:R127L;ENSP00000446343:R74L	ENSP00000300249:R127L	R	+	2	0	MAPRE2	30931537	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.062000	0.89475	2.782000	0.95742	0.585000	0.79938	CGA		0.343	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		7	33	1	0	6.5536e-12	0.278610	7.72989e-12	7	33				
COL22A1	169044	broad.mit.edu	37	8	139636001	139636001	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr8:139636001C>T	ENST00000303045.6	-	52	4191	c.3745G>A	c.(3745-3747)Gga>Aga	p.G1249R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1229R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1249	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCGGCTTTCCATCTCTGCCC	0.448										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3745-3747)Gga>Aga		collagen, type XXII, alpha 1							183.0	194.0	190.0					8																	139636001		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139636001C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3745G>A	8.37:g.139636001C>T	ENSP00000303153:p.Gly1249Arg	HNSCC(7;0.00092)				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1229R	p.G1249R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		52	4191	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1249			Collagen-like 12.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3745G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080408	0.55753	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99353	-5.77;-5.77	4.43	4.43	0.53597	.	0.000000	0.47852	U	0.000210	D	0.99501	0.9822	M	0.93720	3.45	0.49798	D	0.999828	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98027	1.0374	10	0.87932	D	0	.	12.8601	0.57908	0.0:1.0:0.0:0.0	.	1229;1249	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	R	1249;1229;942	ENSP00000303153:G1249R;ENSP00000387655:G1229R	ENSP00000303153:G1249R	G	-	1	0	COL22A1	139705183	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.567000	0.53813	2.746000	0.94184	0.591000	0.81541	GGA		0.448	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		48	248	0	0	0	0.870114	0	48	248				
LILRA1	11024	broad.mit.edu	37	19	55107882	55107882	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr19:55107882G>A	ENST00000251372.3	+	7	1369	c.1187G>A	c.(1186-1188)aGg>aAg	p.R396K	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	396	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGGACCTACAGGTGCTACGGC	0.587																																						ENST00000251372.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(1186-1188)aGg>aAg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							145.0	132.0	136.0					19																	55107882		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107882G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1187G>A	19.37:g.55107882G>A	ENSP00000251372:p.Arg396Lys					LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron	p.R396K	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	7	1369	+			396			Ig-like C2-type 4.		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.1187G>A	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447245	0.43429	.	.	ENSG00000104974	ENST00000251372	T	0.03065	4.06	1.8	-0.653	0.11447	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.471727	0.15809	N	0.243546	T	0.17408	0.0418	M	0.94063	3.49	0.25676	N	0.98584	D	0.63880	0.993	D	0.67382	0.951	T	0.03630	-1.1018	10	0.87932	D	0	.	4.4027	0.11393	0.3901:0.0:0.6099:0.0	.	396	O75019	LIRA1_HUMAN	K	396	ENSP00000251372:R396K	ENSP00000251372:R396K	R	+	2	0	LILRA1	59799694	0.997000	0.39634	0.415000	0.26534	0.024000	0.10985	0.912000	0.28597	-0.077000	0.12752	0.205000	0.17691	AGG		0.587	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		22	88	0	0	0	0.608945	0	22	88				
LMF2	91289	broad.mit.edu	37	22	50943889	50943889	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr22:50943889C>A	ENST00000474879.2	-	7	1009	c.994G>T	c.(994-996)Gtg>Ttg	p.V332L	LMF2_ENST00000505981.1_5'Flank|NCAPH2_ENST00000395698.3_5'Flank|NCAPH2_ENST00000299821.11_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.V332L|NCAPH2_ENST00000395701.3_5'Flank|NCAPH2_ENST00000420993.2_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.V307L	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	332						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGTAGTGCACAGTGCCATAG	0.662																																						ENST00000216080.5																			0				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(919-921)Gtg>Ttg		lipase maturation factor 2							59.0	67.0	64.0					22																	50943889		2203	4298	6501	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50943889C>A	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.994G>T	22.37:g.50943889C>A	ENSP00000424381:p.Val332Leu					LMF2_ENST00000380796.3_Missense_Mutation_p.V332L|LMF2_ENST00000474879.2_Missense_Mutation_p.V332L	p.V307L			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	7	1087	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	332					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.919G>T	CCDS14093.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.16|11.16	1.555622|1.555622	0.27739|0.27739	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000487499|ENST00000380796;ENST00000474879;ENST00000216080	.|T;T;T	.|0.20598	.|2.06;2.06;2.06	5.12|5.12	1.74|1.74	0.24563|0.24563	.|.	.|0.377354	.|0.29403	.|N	.|0.012254	T|T	0.22044|0.22044	0.0531|0.0531	M|M	0.70275|0.70275	2.135|2.135	0.09310|0.09310	N|N	1|1	.|B;B	.|0.18166	.|0.02;0.026	.|B;B	.|0.19666	.|0.026;0.015	T|T	0.19418|0.19418	-1.0306|-1.0306	5|10	.|0.33141	.|T	.|0.24	-17.1648|-17.1648	9.3842|9.3842	0.38333|0.38333	0.0:0.7545:0.0:0.2455|0.0:0.7545:0.0:0.2455	.|.	.|332;307	.|Q9BU23;Q9BU23-2	.|LMF2_HUMAN;.	F|L	338|332;332;307	.|ENSP00000370173:V332L;ENSP00000424381:V332L;ENSP00000216080:V307L	.|ENSP00000216080:V307L	C|V	-|-	2|1	0|0	LMF2|LMF2	49290755|49290755	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.796000|0.796000	0.44982|0.44982	-0.419000|-0.419000	0.07071|0.07071	0.153000|0.153000	0.19213|0.19213	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.662	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		20	85	1	0	7.45023e-12	0.592651	8.56776e-12	20	85				
RTEL1	51750	broad.mit.edu	37	20	62321451	62321451	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr20:62321451C>T	ENST00000360203.5	+	25	2478	c.2153C>T	c.(2152-2154)gCc>gTc	p.A718V	RTEL1_ENST00000508582.2_Missense_Mutation_p.A742V|RTEL1_ENST00000318100.4_Missense_Mutation_p.A718V|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A718V|RTEL1_ENST00000370018.3_Missense_Mutation_p.A718V|RTEL1_ENST00000370003.1_5'UTR					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TTCGCCTTTGCCGACGCAAGA	0.617																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2152-2154)gCc>gTc		regulator of telomere elongation helicase 1							84.0	78.0	80.0					20																	62321451		2201	4300	6501	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62321451C>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2153C>T	20.37:g.62321451C>T	ENSP00000353332:p.Ala718Val					RTEL1_ENST00000508582.2_Missense_Mutation_p.A742V|RTEL1_ENST00000370003.1_5'UTR|RTEL1_ENST00000370018.3_Missense_Mutation_p.A718V|RTEL1_ENST00000360203.5_Missense_Mutation_p.A718V|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A718V	p.A718V			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		25	2980	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		718						Missense_Mutation	SNP	ENST00000360203.5	37	c.2153C>T		.	.	.	.	.	.	.	.	.	.	C	11.87	1.768978	0.31320	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000425905	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	4.57	0.222	0.15288	.	0.522124	0.19342	N	0.116603	D	0.84696	0.5529	L	0.48260	1.515	0.09310	N	1	B;B;B	0.17038	0.009;0.02;0.005	B;B;B	0.23716	0.022;0.048;0.018	T	0.71087	-0.4694	10	0.38643	T	0.18	-6.7925	0.379	0.00392	0.2091:0.2913:0.235:0.2646	.	742;718;718	Q9NZ71-7;Q9NZ71;Q9NZ71-6	.;RTEL1_HUMAN;.	V	718;718;742;718;111	ENSP00000359035:A718V;ENSP00000322287:A718V;ENSP00000424307:A742V;ENSP00000353332:A718V;ENSP00000388063:A111V	ENSP00000353332:A718V	A	+	2	0	AL353715.1	61791895	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.281000	0.18810	0.538000	0.28769	0.462000	0.41574	GCC		0.617	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		3	82	0	0	0	0.150653	0	3	82				
TXNDC16	57544	broad.mit.edu	37	14	52922041	52922041	+	Splice_Site	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr14:52922041C>T	ENST00000281741.4	-	18	2214		c.e18+1		TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16						cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AACATACTCACAAACATTTCC	0.358																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.e18+1		thioredoxin domain containing 16							153.0	138.0	143.0					14																	52922041		2203	4300	6503	SO:0001630	splice_region_variant	57544				cell redox homeostasis	extracellular region		g.chr14:52922041C>T	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1842+1G>A	14.37:g.52922041C>T						TXNDC16_ENST00000554399.1_Intron		NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			18	2214	-	Breast(41;0.0716)							A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Splice_Site	SNP	ENST00000281741.4	37		CCDS32083.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519022	0.27211	.	.	ENSG00000087301	ENST00000281741	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0728	0.72053	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TXNDC16	51991791	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	3.978000	0.56881	2.407000	0.81776	0.563000	0.77884	.		0.358	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699	Intron	13	39	0	0	0	0.479597	0	13	39				
MAP4K4	9448	broad.mit.edu	37	2	102503626	102503626	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:102503626A>G	ENST00000347699.4	+	27	3263	c.3263A>G	c.(3262-3264)tAt>tGt	p.Y1088C	MAP4K4_ENST00000413150.2_Missense_Mutation_p.Y1003C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.Y887C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.Y1169C|MAP4K4_ENST00000425019.1_Missense_Mutation_p.Y1121C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.Y1128C|MAP4K4_ENST00000302217.5_Missense_Mutation_p.Y891C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.Y1007C	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1088	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAAGTGATCTATGGATCCTGT	0.423																																						ENST00000413150.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3007-3009)tAt>tGt		mitogen-activated protein kinase kinase kinase kinase 4							113.0	110.0	111.0					2																	102503626		1943	4166	6109	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102503626A>G	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3263A>G	2.37:g.102503626A>G	ENSP00000314363:p.Tyr1088Cys					MAP4K4_ENST00000302217.5_Missense_Mutation_p.Y891C|MAP4K4_ENST00000347699.4_Missense_Mutation_p.Y1088C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.Y1169C|MAP4K4_ENST00000425019.1_Missense_Mutation_p.Y1121C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.Y1128C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.Y887C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.Y1007C	p.Y1003C	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN			26	3063	+			1088			CNH.|Mediates interaction with RAP2A.		O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.3008A>G	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145324	0.77888	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T;T;T	0.04862	3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54	5.08	5.08	0.68730	Citron-like (3);	0.000000	0.64402	D	0.000001	T	0.28995	0.0720	M	0.86028	2.79	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.996;0.999;0.999;0.993;0.999;0.999;0.993;0.999;1.0	T	0.08700	-1.0709	10	0.87932	D	0	.	14.8383	0.70201	1.0:0.0:0.0:0.0	.	1084;887;891;1006;1088;1121;1007;1060;1169	B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;M4K4_HUMAN;.;.;.;.	C	1121;1169;1007;891;1003;887;1088;1019;1128	ENSP00000392830:Y1121C;ENSP00000313644:Y1169C;ENSP00000281111:Y1007C;ENSP00000303600:Y891C;ENSP00000389752:Y1003C;ENSP00000387370:Y887C;ENSP00000314363:Y1088C;ENSP00000409720:Y1019C;ENSP00000343658:Y1128C	ENSP00000303600:Y891C	Y	+	2	0	MAP4K4	101870058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.906000	0.55180	0.455000	0.32223	TAT		0.423	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		3	17	0	0	0	0.115264	0	3	17				
TP53	7157	broad.mit.edu	37	17	7578458	7578458	+	Missense_Mutation	SNP	G	G	C	rs587780068		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:7578458G>C	ENST00000269305.4	-	5	661	c.472C>G	c.(472-474)Cgc>Ggc	p.R158G	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R158G|TP53_ENST00000413465.2_Missense_Mutation_p.R158G|TP53_ENST00000445888.2_Missense_Mutation_p.R158G|TP53_ENST00000455263.2_Missense_Mutation_p.R158G|TP53_ENST00000420246.2_Missense_Mutation_p.R158G	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	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)	GCCATGGCGCGGACGCGGGTG	0.622		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"""		98	Substitution - Missense(38)|Deletion - Frameshift(26)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Complex - frameshift(2)|Insertion - Frameshift(1)	p.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(25)|central_nervous_system(21)|stomach(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|upper_aerodigestive_tract(5)|breast(4)|oesophagus(4)|bone(4)|urinary_tract(3)|ovary(2)|pancreas(2)|liver(2)|soft_tissue(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	CM004341	TP53	M		c.(472-474)Cgc>Ggc	Other conserved DNA damage response genes	tumor protein p53							51.0	52.0	51.0					17																	7578458		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.chr17:7578458G>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.472C>G	17.37:g.7578458G>C	ENSP00000269305:p.Arg158Gly	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_ENST00000413465.2_Missense_Mutation_p.R158G|TP53_ENST00000445888.2_Missense_Mutation_p.R158G|TP53_ENST00000269305.4_Missense_Mutation_p.R158G|TP53_ENST00000359597.4_Missense_Mutation_p.R158G|TP53_ENST00000455263.2_Missense_Mutation_p.R158G	p.R158G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	604	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.472C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539522	0.45176	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	5.59	3.57	0.40892	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99851	0.9931	M	0.92026	3.265	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.992;0.994;0.998;0.996;0.994;1.0	D	0.97453	1.0029	10	0.87932	D	0	-10.4795	9.778	0.40632	0.0776:0.1408:0.7816:0.0	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158G;ENSP00000352610:R158G;ENSP00000269305:R158G;ENSP00000398846:R158G;ENSP00000391127:R158G;ENSP00000391478:R158G;ENSP00000425104:R26G;ENSP00000423862:R65G;ENSP00000424104:R158G	ENSP00000269305:R158G	R	-	1	0	TP53	7519183	1.000000	0.71417	0.034000	0.17996	0.178000	0.23041	2.597000	0.46214	0.818000	0.34468	0.655000	0.94253	CGC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	33	0	0	0	0.575678	0	19	33				
ITGA2B	3674	broad.mit.edu	37	17	42455842	42455842	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:42455842A>C	ENST00000262407.5	-	20	2013	c.1982T>G	c.(1981-1983)gTc>gGc	p.V661G	ITGA2B_ENST00000353281.4_Missense_Mutation_p.V661G	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	661					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CAGCTCCAGGACATTATCTGC	0.657																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1981-1983)gTc>gGc		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						25.0	27.0	26.0					17																	42455842		2203	4299	6502	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42455842A>C		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1982T>G	17.37:g.42455842A>C	ENSP00000262407:p.Val661Gly					ITGA2B_ENST00000353281.4_Missense_Mutation_p.V661G	p.V661G	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	20	2013	-		Prostate(33;0.0181)	661					B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.1982T>G	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209991	0.58343	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.45276	0.9;0.9	5.12	5.12	0.69794	Integrin alpha-2 (1);	0.000000	0.32015	N	0.006705	T	0.61640	0.2363	M	0.80028	2.48	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.64595	0.927;0.91	T	0.61367	-0.7077	10	0.26408	T	0.33	.	12.9241	0.58249	1.0:0.0:0.0:0.0	.	259;661	Q59FA8;P08514	.;ITA2B_HUMAN	G	661	ENSP00000262407:V661G;ENSP00000340536:V661G	ENSP00000262407:V661G	V	-	2	0	ITGA2B	39811368	0.220000	0.23631	0.942000	0.38095	0.256000	0.26092	2.434000	0.44802	2.163000	0.67991	0.533000	0.62120	GTC		0.657	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			4	17	0	0	0	0.184627	0	4	17				
KIDINS220	57498	broad.mit.edu	37	2	8958894	8958894	+	Silent	SNP	G	G	A	rs377042462		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:8958894G>A	ENST00000256707.3	-	3	319	c.138C>T	c.(136-138)gcC>gcT	p.A46A	KIDINS220_ENST00000427284.1_Silent_p.A46A|KIDINS220_ENST00000473731.1_Silent_p.A46A|KIDINS220_ENST00000418530.1_Silent_p.A4A|KIDINS220_ENST00000319688.5_Silent_p.A46A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	46					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGCCTTGTTCGGCAGCTATCA	0.328																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(136-138)gcC>gcT		kinase D-interacting substrate, 220kDa		G		0,3700		0,0,1850	103.0	102.0	103.0		138	-5.2	0.3	2		103	1,8195		0,1,4097	no	coding-synonymous	KIDINS220	NM_020738.2		0,1,5947	AA,AG,GG		0.0122,0.0,0.0084		46/1772	8958894	1,11895	1850	4098	5948	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8958894G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.138C>T	2.37:g.8958894G>A						KIDINS220_ENST00000473731.1_Silent_p.A46A|KIDINS220_ENST00000427284.1_Silent_p.A46A|KIDINS220_ENST00000418530.1_Silent_p.A4A|KIDINS220_ENST00000319688.5_Silent_p.A46A	p.A46A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			3	319	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		46					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.138C>T	CCDS42650.1																																																																																				0.328	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		18	67	0	0	0	0.608945	0	18	67				
TUBA1B	10376	broad.mit.edu	37	12	49523049	49523049	+	Silent	SNP	A	A	G	rs1057072		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr12:49523049A>G	ENST00000336023.5	-	3	445	c.351T>C	c.(349-351)ctT>ctC	p.L117L	RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	117					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGTCCAACACAAGGTCAATGA	0.488																																						ENST00000336023.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						c.(349-351)ctT>ctC		tubulin, alpha 1b							174.0	159.0	164.0					12																	49523049		2203	4300	6503	SO:0001819	synonymous_variant	10376				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	g.chr12:49523049A>G	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.351T>C	12.37:g.49523049A>G						RP11-386G11.10_ENST00000547387.1_RNA	p.L117L	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN			3	445	-			117					P04687|P05209|Q27I68|Q8WU19	Silent	SNP	ENST00000336023.5	37	c.351T>C	CCDS31792.1																																																																																				0.488	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082		4	133	0	0	0	0.248553	0	4	133				
UMPS	7372	broad.mit.edu	37	3	124449455	124449455	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:124449455G>T	ENST00000232607.2	+	1	243	c.137G>T	c.(136-138)cGa>cTa	p.R46L	UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000536109.1_5'UTR|MIR544B_ENST00000582372.1_RNA|UMPS_ENST00000413078.2_5'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	46	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	ATCGTGTCTCGACCGCGTCTT	0.587																																						ENST00000232607.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(136-138)cGa>cTa		uridine monophosphate synthetase							70.0	61.0	64.0					3																	124449455		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124449455G>T		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.137G>T	3.37:g.124449455G>T	ENSP00000232607:p.Arg46Leu					UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000536109.1_5'UTR	p.R46L	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	1	243	+			46			OPRTase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.137G>T	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219987	0.39201	.	.	ENSG00000114491	ENST00000232607	D	0.99311	-5.73	5.15	2.36	0.29203	Phosphoribosyltransferase (1);	0.298098	0.32578	N	0.005912	D	0.96513	0.8862	L	0.34521	1.04	0.49483	D	0.999795	B	0.06786	0.001	B	0.16722	0.016	D	0.91748	0.5410	10	0.33141	T	0.24	-2.6644	4.655	0.12613	0.2963:0.0:0.5555:0.1482	.	46	P11172	UMPS_HUMAN	L	46	ENSP00000232607:R46L	ENSP00000232607:R46L	R	+	2	0	UMPS	125932145	0.971000	0.33674	0.993000	0.49108	0.997000	0.91878	3.505000	0.53356	0.315000	0.23110	0.563000	0.77884	CGA		0.587	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		11	31	1	0	2.80697e-09	0.387290	3.14929e-09	11	31				
NF1	4763	broad.mit.edu	37	17	29677227	29677227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:29677227C>T	ENST00000358273.4	+	50	7731	c.7348C>T	c.(7348-7350)Cga>Tga	p.R2450*	NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*|NF1_ENST00000417592.2_Nonsense_Mutation_p.R163*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2450					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.R2450*(6)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAGAAGTTCGAAGTCGCTG	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	17	Whole gene deletion(8)|Substitution - Nonsense(6)|Unknown(3)	p.0?(8)|p.R2450*(6)|p.?(3)	soft_tissue(10)|autonomic_ganglia(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|central_nervous_system(1)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CD000998|CM000818	NF1	D|M		c.(7348-7350)Cga>Tga		neurofibromin 1							159.0	145.0	150.0					17																	29677227		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29677227C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7348C>T	17.37:g.29677227C>T	ENSP00000351015:p.Arg2450*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*|NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*|NF1_ENST00000417592.2_Nonsense_Mutation_p.R163*	p.R2450*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	50	7731	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2450					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.7348C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276767	0.80580	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	.	.	.	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.382	0.66916	0.1478:0.8522:0.0:0.0	.	.	.	.	X	2450;2429;2095;243;163	.	ENSP00000348498:R2429X	R	+	1	2	NF1	26701353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.331000	0.43894	2.626000	0.88956	0.563000	0.77884	CGA		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		24	94	0	0	0	0.681144	0	24	94				
USP37	57695	broad.mit.edu	37	2	219418446	219418446	+	Splice_Site	SNP	A	A	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:219418446A>G	ENST00000258399.3	-	5	570	c.158T>C	c.(157-159)cTa>cCa	p.L53P	USP37_ENST00000338465.5_Splice_Site_p.L53P|USP37_ENST00000418019.1_Splice_Site_p.L53P|USP37_ENST00000415516.1_5'UTR|USP37_ENST00000454775.1_Splice_Site_p.L53P	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	53					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GTTATGACTTAGCTAATCAAG	0.318																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.e5-1		ubiquitin specific peptidase 37							62.0	61.0	61.0					2																	219418446		2203	4300	6503	SO:0001630	splice_region_variant	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219418446A>G	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.157-1T>C	2.37:g.219418446A>G						USP37_ENST00000338465.5_Splice_Site_p.L53_splice|USP37_ENST00000415516.1_5'UTR|USP37_ENST00000418019.1_Splice_Site_p.L53_splice|USP37_ENST00000454775.1_Splice_Site_p.L53_splice	p.L53_splice	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	5	570	-		Renal(207;0.0915)	53					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Splice_Site	SNP	ENST00000258399.3	37	c.156_splice	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739943	0.69304	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000418019;ENST00000338465	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.85	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000002	D	0.85309	0.5667	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87160	0.2214	10	0.87932	D	0	-6.0555	13.8973	0.63781	1.0:0.0:0.0:0.0	.	53;53	Q86W68;Q86T82	.;UBP37_HUMAN	P	53	ENSP00000258399:L53P;ENSP00000393662:L53P;ENSP00000396585:L53P;ENSP00000345043:L53P	ENSP00000258399:L53P	L	-	2	0	USP37	219126690	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.914000	0.69964	2.023000	0.59567	0.533000	0.62120	CTA		0.318	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935	Missense_Mutation	3	43	0	0	0	0.150653	0	3	43				
CTCFL	140690	broad.mit.edu	37	20	56093824	56093824	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr20:56093824G>A	ENST00000608263.1	-	4	1710	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	CTCFL_ENST00000539382.1_Missense_Mutation_p.A145V|CTCFL_ENST00000608903.1_Missense_Mutation_p.A88V|CTCFL_ENST00000429804.3_Missense_Mutation_p.A350V|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000422869.2_Missense_Mutation_p.A350V|CTCFL_ENST00000608158.1_Missense_Mutation_p.A350V|CTCFL_ENST00000243914.3_Missense_Mutation_p.A350V|CTCFL_ENST00000433949.3_Missense_Mutation_p.A145V|CTCFL_ENST00000371196.2_Missense_Mutation_p.A350V|CTCFL_ENST00000423479.3_Missense_Mutation_p.A350V|CTCFL_ENST00000609232.1_Missense_Mutation_p.A350V|CTCFL_ENST00000502686.2_Missense_Mutation_p.A88V|CTCFL_ENST00000608440.1_Missense_Mutation_p.A350V|CTCFL_ENST00000481655.2_Missense_Mutation_p.A350V|CTCFL_ENST00000432255.2_Missense_Mutation_p.A350V|CTCFL_ENST00000608425.1_Missense_Mutation_p.A350V	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	350					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCCACACTGGCATACTTGCA	0.443																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1048-1050)gCc>gTc		CCCTC-binding factor (zinc finger protein)-like							193.0	180.0	184.0					20																	56093824		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56093824G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1049C>T	20.37:g.56093824G>A	ENSP00000476783:p.Ala350Val					CTCFL_ENST00000502686.2_Missense_Mutation_p.A88V|CTCFL_ENST00000433949.2_Missense_Mutation_p.A350V|CTCFL_ENST00000422869.2_Missense_Mutation_p.A350V|CTCFL_ENST00000432255.2_Missense_Mutation_p.A350V|CTCFL_ENST00000429804.2_Missense_Mutation_p.A350V|CTCFL_ENST00000243914.3_Missense_Mutation_p.A350V|CTCFL_ENST00000423479.2_Missense_Mutation_p.A350V|CTCFL_ENST00000422109.2_Missense_Mutation_p.A350V|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000539382.1_Missense_Mutation_p.A145V|CTCFL_ENST00000371196.2_Missense_Mutation_p.A350V	p.A350V			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		4	1710	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		350					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.1049C>T	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384711	0.82792	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.19105	3.12;3.12;3.12;2.17;3.12;3.12;2.17;3.12;2.17;3.12;3.12	4.77	4.77	0.60923	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000902	T	0.39064	0.1064	L	0.41632	1.29	0.42331	D	0.992293	D;D;P;D;D;P;D;D	0.89917	1.0;0.994;0.89;1.0;0.999;0.94;0.999;0.999	D;D;P;D;D;P;D;D	0.87578	0.989;0.963;0.758;0.998;0.985;0.897;0.985;0.985	T	0.25847	-1.0120	10	0.72032	D	0.01	-29.0302	16.9368	0.86205	0.0:0.0:1.0:0.0	.	350;350;350;350;350;350;350;350	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	V	350;350;350;350;350;88;350;350;350;145;350	ENSP00000415579:A350V;ENSP00000243914:A350V;ENSP00000360239:A350V;ENSP00000415329:A350V;ENSP00000392034:A350V;ENSP00000437999:A88V;ENSP00000413713:A350V;ENSP00000403369:A350V;ENSP00000409344:A350V;ENSP00000439998:A145V;ENSP00000399061:A350V	ENSP00000243914:A350V	A	-	2	0	CTCFL	55527230	1.000000	0.71417	0.386000	0.26170	0.637000	0.38172	5.077000	0.64419	2.346000	0.79739	0.591000	0.81541	GCC		0.443	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		4	172	0	0	0	0.150653	0	4	172				
FAM83G	644815	broad.mit.edu	37	17	18874945	18874945	+	Silent	SNP	G	G	A	rs200181954	byFrequency	TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:18874945G>A	ENST00000388995.6	-	6	2422	c.2199C>T	c.(2197-2199)aaC>aaT	p.N733N	FAM83G_ENST00000585154.2_Silent_p.N733N|FAM83G_ENST00000345041.4_Silent_p.N733N|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	733					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTGGGCCAGCGTTTCTGGTAG	0.642													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14908	0.0		0.0	False		,,,				2504	0.0					ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2197-2199)aaC>aaT		family with sequence similarity 83, member G		G	,,	0,3884		0,0,1942	36.0	44.0	42.0		2199,,	-4.8	0.0	17		42	2,8228		0,2,4113	no	coding-synonymous,intron,intron	SLC5A10,FAM83G	NM_001039999.2,NM_001042450.1,NM_152351.3	,,	0,2,6055	AA,AG,GG		0.0243,0.0,0.0165	,,	733/824,,	18874945	2,12112	1942	4115	6057	SO:0001819	synonymous_variant	644815							g.chr17:18874945G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2199C>T	17.37:g.18874945G>A						FAM83G_ENST00000585154.2_Silent_p.N733N|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Silent_p.N733N|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron	p.N733N			A6ND36	FA83G_HUMAN			6	2422	-			733					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.2199C>T	CCDS42276.1																																																																																				0.642	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			10	38	0	0	0	0.387290	0	10	38				
WDR47	22911	broad.mit.edu	37	1	109544855	109544855	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:109544855A>G	ENST00000369962.3	-	7	1646	c.1424T>C	c.(1423-1425)tTc>tCc	p.F475S	WDR47_ENST00000369965.4_Missense_Mutation_p.F476S|WDR47_ENST00000357672.3_Missense_Mutation_p.F447S|WDR47_ENST00000361054.3_Missense_Mutation_p.F447S|WDR47_ENST00000400794.3_Missense_Mutation_p.F483S			O94967	WDR47_HUMAN	WD repeat domain 47	475					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CCTATTAAGGAACTGTTCAGT	0.383																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1339-1341)tTc>tCc		WD repeat domain 47							165.0	149.0	155.0					1																	109544855		2203	4298	6501	SO:0001583	missense	22911							g.chr1:109544855A>G	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1424T>C	1.37:g.109544855A>G	ENSP00000358979:p.Phe475Ser					WDR47_ENST00000369965.4_Missense_Mutation_p.F476S|WDR47_ENST00000361054.3_Missense_Mutation_p.F447S|WDR47_ENST00000400794.3_Missense_Mutation_p.F483S|WDR47_ENST00000369962.3_Missense_Mutation_p.F475S	p.F447S			O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	6	1715	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	475			Gln-rich.		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.1340T>C	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580841	0.65992	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.58652	0.33;0.37;0.32;0.33;0.32	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.997	D;D;D;D	0.80764	0.991;0.994;0.994;0.991	T	0.54669	-0.8259	10	0.27082	T	0.32	-8.7582	15.2442	0.73493	1.0:0.0:0.0:0.0	.	447;483;475;476	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	S	483;475;447;476;447	ENSP00000383599:F483S;ENSP00000358979:F475S;ENSP00000354339:F447S;ENSP00000358982:F476S;ENSP00000350301:F447S	ENSP00000350301:F447S	F	-	2	0	WDR47	109346378	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	8.332000	0.90024	2.007000	0.58848	0.402000	0.26972	TTC		0.383	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		3	141	0	0	0	0.115264	0	3	141				
DYM	54808	broad.mit.edu	37	18	46812851	46812851	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr18:46812851G>A	ENST00000269445.6	-	9	1356	c.899C>T	c.(898-900)gCg>gTg	p.A300V	DYM_ENST00000442713.2_Missense_Mutation_p.A110V	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	300					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGGGTTTGGCGCATCTGAGGC	0.488																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(898-900)gCg>gTg		dymeclin																																				SO:0001583	missense	54808					Golgi apparatus		g.chr18:46812851G>A	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.899C>T	18.37:g.46812851G>A	ENSP00000269445:p.Ala300Val					DYM_ENST00000442713.2_Missense_Mutation_p.A110V	p.A300V	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			9	1356	-			300					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	37	c.899C>T	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	G	4.654	0.121519	0.08881	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.83075	-1.68;-1.68	5.82	3.07	0.35406	.	0.534254	0.23386	N	0.048756	T	0.62429	0.2427	N	0.12182	0.205	0.19945	N	0.999947	B;B;B	0.20988	0.05;0.0;0.036	B;B;B	0.16722	0.016;0.002;0.005	T	0.45145	-0.9281	10	0.10111	T	0.7	-2.5952	6.3381	0.21306	0.2143:0.1317:0.654:0.0	.	110;122;300	Q7RTS9-2;Q9NXS9;Q7RTS9	.;.;DYM_HUMAN	V	110;300	ENSP00000395942:A110V;ENSP00000269445:A300V	ENSP00000269445:A300V	A	-	2	0	DYM	45066849	0.044000	0.20184	0.001000	0.08648	0.035000	0.12851	2.410000	0.44592	0.375000	0.24679	-0.137000	0.14449	GCG		0.488	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		17	107	0	0	0	0.520397	0	17	107				
RAI14	26064	broad.mit.edu	37	5	34811934	34811934	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr5:34811934A>G	ENST00000265109.3	+	9	907	c.620A>G	c.(619-621)aAg>aGg	p.K207R	RAI14_ENST00000503673.1_Missense_Mutation_p.K207R|RAI14_ENST00000515799.1_Missense_Mutation_p.K210R|RAI14_ENST00000397449.1_Missense_Mutation_p.K200R|RAI14_ENST00000428746.2_Missense_Mutation_p.K207R|RAI14_ENST00000512629.1_Missense_Mutation_p.K207R|RAI14_ENST00000506376.1_Missense_Mutation_p.K199R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	207						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTAATTAAAAAGGGTGCAGAC	0.383																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(619-621)aAg>aGg		retinoic acid induced 14							78.0	81.0	80.0					5																	34811934		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34811934A>G	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.620A>G	5.37:g.34811934A>G	ENSP00000265109:p.Lys207Arg					RAI14_ENST00000428746.2_Missense_Mutation_p.K207R|RAI14_ENST00000515799.1_Missense_Mutation_p.K210R|RAI14_ENST00000506376.1_Missense_Mutation_p.K199R|RAI14_ENST00000503673.1_Missense_Mutation_p.K207R|RAI14_ENST00000512629.1_Missense_Mutation_p.K207R|RAI14_ENST00000397449.1_Missense_Mutation_p.K200R	p.K207R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			9	907	+	all_lung(31;0.000191)		207					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.620A>G	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.510416	0.27036	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.41	5.41	0.78517	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.36771	0.0979	N	0.05012	-0.13	0.37834	D	0.928827	B;P;B;P	0.34757	0.412;0.467;0.099;0.467	B;B;B;B	0.33620	0.104;0.167;0.067;0.103	T	0.42258	-0.9462	9	0.09590	T	0.72	-28.4453	11.6644	0.51366	0.9288:0.0:0.0712:0.0	.	199;207;210;207	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	R	207;207;207;207;210;199;200	ENSP00000265109:K207R;ENSP00000422377:K207R;ENSP00000388725:K207R;ENSP00000422942:K207R;ENSP00000427123:K210R;ENSP00000423854:K199R;ENSP00000380591:K200R	ENSP00000265109:K207R	K	+	2	0	RAI14	34847691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.638000	0.46562	2.171000	0.68590	0.528000	0.53228	AAG		0.383	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		3	78	0	0	0	0.115264	0	3	78				
IGF1R	3480	broad.mit.edu	37	15	99434555	99434555	+	Splice_Site	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:99434555G>A	ENST00000268035.6	+	3	1253	c.642G>A	c.(640-642)atG>atA	p.M214I	RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000558762.1_Splice_Site_p.M214I|IGF1R_ENST00000560432.1_3'UTR	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	214					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCTCCACAGTGTGCCCAAGCA	0.647																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.e3-1		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						28.0	24.0	25.0					15																	99434555		2196	4297	6493	SO:0001630	splice_region_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99434555G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.641-1G>A	15.37:g.99434555G>A						IGF1R_ENST00000560432.1_3'UTR|RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000558762.1_Splice_Site_p.M214_splice	p.M214_splice	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		3	1253	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		214					B1B5Y2|Q14CV2|Q9UCC0	Splice_Site	SNP	ENST00000268035.6	37	c.640_splice	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	9.562	1.118690	0.20877	.	.	ENSG00000140443	ENST00000268035	D	0.97186	-4.28	5.12	2.1	0.27182	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.428542	0.23222	N	0.050560	D	0.91168	0.7218	N	0.13098	0.295	0.39066	D	0.960613	B;B	0.14012	0.009;0.0	B;B	0.16722	0.016;0.006	T	0.83277	-0.0040	10	0.21540	T	0.41	.	10.0243	0.42061	0.0713:0.2615:0.6672:0.0	.	214;214	C9J5X1;P08069	.;IGF1R_HUMAN	I	214	ENSP00000268035:M214I	ENSP00000268035:M214I	M	+	3	0	IGF1R	97252078	1.000000	0.71417	0.999000	0.59377	0.469000	0.32828	1.295000	0.33377	0.231000	0.21079	0.561000	0.74099	ATG		0.647	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	Missense_Mutation	6	10	0	0	0	0.278610	0	6	10				
ZNF17	7565	broad.mit.edu	37	19	57932287	57932287	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr19:57932287G>A	ENST00000601808.1	+	3	1640	c.1427G>A	c.(1426-1428)gGc>gAc	p.G476D	ZNF17_ENST00000307658.7_Missense_Mutation_p.G478D|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGTGAATGTGGCAAATTCTTT	0.413																																					Melanoma(149;1637 1853 29914 42869 44988)	ENST00000307658.7																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1432-1434)gGc>gAc		zinc finger protein 17							101.0	105.0	104.0					19																	57932287		2190	4294	6484	SO:0001583	missense	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57932287G>A	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1427G>A	19.37:g.57932287G>A	ENSP00000471905:p.Gly476Asp					ZNF17_ENST00000601808.1_Missense_Mutation_p.G476D|AC004076.7_ENST00000597410.1_Intron	p.G478D			P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	4	1696	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	476					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	c.1433G>A	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606448	0.46527	.	.	ENSG00000186272	ENST00000307658	.	.	.	1.99	1.99	0.26369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49592	0.1566	L	0.44542	1.39	0.25390	N	0.988533	D;P	0.89917	1.0;0.931	D;B	0.79784	0.993;0.362	T	0.28138	-1.0053	8	0.72032	D	0.01	.	4.0161	0.09644	0.3514:0.0:0.6486:0.0	.	478;476	P17021-2;P17021	.;ZNF17_HUMAN	D	476	.	ENSP00000302455:G476D	G	+	2	0	ZNF17	62624099	0.991000	0.36638	0.839000	0.33178	0.854000	0.48673	1.879000	0.39618	1.084000	0.41184	0.467000	0.42956	GGC		0.413	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		5	138	0	0	0	0.184627	0	5	138				
PM20D1	148811	broad.mit.edu	37	1	205814452	205814452	+	Splice_Site	SNP	C	C	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:205814452C>G	ENST00000367136.4	-	3	534		c.e3+1		PM20D1_ENST00000460624.1_Splice_Site	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1						negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCATCTCAGACCATCACAGAG	0.547																																						ENST00000367136.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.e3+1		peptidase M20 domain containing 1							90.0	87.0	88.0					1																	205814452		2203	4300	6503	SO:0001630	splice_region_variant	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205814452C>G		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.489+1G>C	1.37:g.205814452C>G						PM20D1_ENST00000460624.1_Splice_Site		NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		3	534	-	Breast(84;0.201)							Q6P4E3|Q96DM4	Splice_Site	SNP	ENST00000367136.4	37		CCDS1460.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046058	0.36085	.	.	ENSG00000162877	ENST00000367136	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7726	0.96373	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PM20D1	204081075	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	7.233000	0.78125	2.771000	0.95319	0.561000	0.74099	.		0.547	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491	Intron	4	62	0	0	0	0.184627	0	4	62				
GSPT2	23708	broad.mit.edu	37	X	51488255	51488255	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:51488255T>A	ENST00000340438.4	+	1	1775	c.1533T>A	c.(1531-1533)gaT>gaA	p.D511E		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	511					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TACTTTGTGATCCTAGTAACC	0.418																																						ENST00000340438.4																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(1531-1533)gaT>gaA		G1 to S phase transition 2							123.0	103.0	110.0					X																	51488255		2203	4300	6503	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51488255T>A	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1533T>A	X.37:g.51488255T>A	ENSP00000341247:p.Asp511Glu						p.D511E	NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN			1	1775	+	Ovarian(276;0.236)		511					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.1533T>A	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	T	9.977	1.227121	0.22542	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.32753	1.44	4.74	-4.2	0.03823	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.212008	0.47852	N	0.000220	T	0.23451	0.0567	M	0.67625	2.065	0.32851	D	0.506601	B	0.02656	0.0	B	0.04013	0.001	T	0.02333	-1.1175	10	0.62326	D	0.03	-11.8823	4.7791	0.13194	0.2342:0.3219:0.0:0.444	.	511	Q8IYD1	ERF3B_HUMAN	E	511;428	ENSP00000341247:D511E	ENSP00000341247:D511E	D	+	3	2	GSPT2	51504995	0.000000	0.05858	0.266000	0.24541	0.972000	0.66771	-0.322000	0.08007	-1.122000	0.02945	-1.043000	0.02367	GAT		0.418	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			23	25	0	0	0	0.624587	0	23	25				
ATRX	546	broad.mit.edu	37	X	76813115	76813115	+	Splice_Site	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:76813115C>T	ENST00000373344.5	-	30	6720	c.6506G>A	c.(6505-6507)gGa>gAa	p.G2169E	ATRX_ENST00000395603.3_Splice_Site_p.G2131E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2169	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCCATGGTTCCCTTTGTAAA	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e30-1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						99.0	88.0	92.0					X																	76813115		2203	4296	6499	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76813115C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6505-1G>A	X.37:g.76813115C>T						ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G2131_splice	p.G2169_splice	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			30	6720	-			2169			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37	c.6504_splice	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563416	0.65651	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93133	-3.17;-3.17	5.57	5.57	0.84162	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96858	0.8974	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97297	0.9928	10	0.72032	D	0.01	-13.8181	18.5479	0.91054	0.0:1.0:0.0:0.0	.	2131;2169	P46100-4;P46100	.;ATRX_HUMAN	E	2169;2131	ENSP00000362441:G2169E;ENSP00000378967:G2131E	ENSP00000362441:G2169E	G	-	2	0	ATRX	76699771	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.484000	0.81180	2.323000	0.78572	0.600000	0.82982	GGA		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Missense_Mutation	19	26	0	0	0	0.575678	0	19	26				
MYH2	4620	broad.mit.edu	37	17	10442867	10442867	+	Missense_Mutation	SNP	G	G	A	rs527337606		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:10442867G>A	ENST00000245503.5	-	13	1544	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A387V|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.A387V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	387	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.A387V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAGGTAGGCCGCCTTGTCAGC	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17231	0.0		0.0	False		,,,				2504	0.0					ENST00000245503.5																			1	Substitution - Missense(1)	p.A387V(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(1159-1161)gCg>gTg		myosin, heavy chain 2, skeletal muscle, adult							88.0	90.0	89.0					17																	10442867		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10442867G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1160C>T	17.37:g.10442867G>A	ENSP00000245503:p.Ala387Val					MYH2_ENST00000397183.2_Missense_Mutation_p.A387V|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.A387V	p.A387V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			13	1544	-			387			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1160C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459682	0.43736	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.86366	-2.11;-2.11;-2.11	5.1	5.1	0.69264	Myosin head, motor domain (2);	0.000000	0.39020	U	0.001488	D	0.85128	0.5626	L	0.28054	0.825	0.48511	D	0.999666	B;P	0.51791	0.008;0.948	B;P	0.54431	0.003;0.752	T	0.80527	-0.1343	10	0.08381	T	0.77	.	17.6807	0.88242	0.0:0.0:1.0:0.0	.	387;387	Q567P6;Q9UKX2	.;MYH2_HUMAN	V	387	ENSP00000433944:A387V;ENSP00000245503:A387V;ENSP00000380367:A387V	ENSP00000245503:A387V	A	-	2	0	MYH2	10383592	0.962000	0.33011	0.986000	0.45419	0.883000	0.51084	3.669000	0.54561	2.653000	0.90120	0.585000	0.79938	GCG		0.428	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		39	53	0	0	0	0.796494	0	39	53				
ACACA	31	broad.mit.edu	37	17	35580444	35580444	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:35580444C>T	ENST00000394406.2	-	28	3632	c.3442G>A	c.(3442-3444)Gca>Aca	p.A1148T	ACACA_ENST00000353139.5_Missense_Mutation_p.A1185T|ACACA_ENST00000335166.5_Missense_Mutation_p.A1070T|ACACA_ENST00000360679.3_Missense_Mutation_p.A1090T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1148					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCAGAGCTGCCATCCTCACT	0.403																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(3553-3555)Gca>Aca		acetyl-CoA carboxylase alpha	Biotin(DB00121)						200.0	179.0	186.0					17																	35580444		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35580444C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3442G>A	17.37:g.35580444C>T	ENSP00000377928:p.Ala1148Thr					ACACA_ENST00000394406.2_Missense_Mutation_p.A1148T|ACACA_ENST00000360679.3_Missense_Mutation_p.A1090T|ACACA_ENST00000335166.5_Missense_Mutation_p.A1070T	p.A1185T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			28	4034	-		Breast(25;0.00157)|Ovarian(249;0.15)	1148					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.3553G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404969	0.96051	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.71	5.71	0.89125	Acetyl-CoA carboxylase, central domain (1);	0.049621	0.85682	D	0.000000	D	0.83746	0.5321	M	0.92507	3.315	0.80722	D	1	P;P;P	0.49358	0.923;0.798;0.759	P;P;P	0.55749	0.783;0.615;0.48	D	0.86718	0.1940	10	0.59425	D	0.04	-13.555	18.0482	0.89340	0.0:1.0:0.0:0.0	.	1185;1148;1090	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	T	1185;1090;1148;1172;1070	ENSP00000344789:A1185T;ENSP00000353898:A1090T;ENSP00000377928:A1148T;ENSP00000335323:A1070T	ENSP00000335323:A1070T	A	-	1	0	ACACA	32654557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	GCA		0.403	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		20	118	0	0	0	0.575678	0	20	118				
CAPN3	825	broad.mit.edu	37	15	42676717	42676717	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:42676717G>T	ENST00000397163.3	+	2	565	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S	CAPN3_ENST00000318023.7_Missense_Mutation_p.A116S|CAPN3_ENST00000357568.3_Missense_Mutation_p.A116S|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.A29S|CAPN3_ENST00000349748.3_Missense_Mutation_p.A116S	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	116	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATTGATGGAGCCAACAGAAC	0.433																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(346-348)Gcc>Tcc		calpain 3, (p94)							136.0	129.0	131.0					15																	42676717		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42676717G>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.346G>T	15.37:g.42676717G>T	ENSP00000380349:p.Ala116Ser					CAPN3_ENST00000357568.3_Missense_Mutation_p.A116S|CAPN3_ENST00000356316.3_Missense_Mutation_p.A29S|CAPN3_ENST00000349748.3_Missense_Mutation_p.A116S|CAPN3_ENST00000318023.7_Missense_Mutation_p.A116S|RP11-164J13.1_ENST00000495723.1_RNA	p.A116S	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	2	565	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	116			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.346G>T	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397777	0.96009	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51;-4.51	5.5	5.5	0.81552	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	U	0.000000	D	0.98994	0.9657	M	0.90145	3.09	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;0.993;0.996;0.997;0.994	D;D;D;D;D;D	0.97110	1.0;0.999;0.993;0.998;0.999;0.999	D	0.99655	1.0992	10	0.87932	D	0	.	19.3925	0.94590	0.0:0.0:1.0:0.0	.	29;29;116;116;116;29	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	S	29;116;116;116;116	ENSP00000348667:A29S;ENSP00000380349:A116S;ENSP00000350181:A116S;ENSP00000183936:A116S;ENSP00000326281:A116S	ENSP00000326281:A116S	A	+	1	0	CAPN3	40464009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.797000	0.99108	2.591000	0.87537	0.650000	0.86243	GCC		0.433	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			23	85	1	0	0.000147802	0.706142	0.000161878	23	85				
CHRNB4	1143	broad.mit.edu	37	15	78917350	78917350	+	3'UTR	SNP	T	T	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:78917350T>G	ENST00000261751.3	-	0	1733				CHRNB4_ENST00000412074.2_Missense_Mutation_p.T215P|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)						action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CTGTGGCTGGTTTGATGGGGT	0.572																																						ENST00000412074.2																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(643-645)Acc>Ccc		cholinergic receptor, nicotinic, beta 4 (neuronal)																																				SO:0001624	3_prime_UTR_variant	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78917350T>G	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.*125A>C	15.37:g.78917350T>G						CHRNB4_ENST00000261751.3_3'UTR	p.T215P	NM_001256567.1	NP_001243496.1	P30926	ACHB4_HUMAN			5	754	-			0					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.643A>C	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	T	7.967	0.748270	0.15710	.	.	ENSG00000117971	ENST00000412074	T	0.77489	-1.1	3.07	0.657	0.17850	.	.	.	.	.	T	0.64227	0.2579	.	.	.	0.28889	N	0.893979	P	0.44578	0.838	B	0.38655	0.278	T	0.60747	-0.7202	8	0.87932	D	0	.	2.7342	0.05235	0.4025:0.1202:0.0:0.4772	.	215	E9PHE8	.	P	215	ENSP00000416386:T215P	ENSP00000416386:T215P	T	-	1	0	CHRNB4	76704405	0.005000	0.15991	0.054000	0.19295	0.299000	0.27559	0.981000	0.29526	0.109000	0.17891	0.533000	0.62120	ACC		0.572	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			4	10	0	0	0	0.278610	0	4	10				
RELN	5649	broad.mit.edu	37	7	103290796	103290796	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr7:103290796C>T	ENST00000428762.1	-	16	2086	c.1927G>A	c.(1927-1929)Gca>Aca	p.A643T	RELN_ENST00000343529.5_Missense_Mutation_p.A643T|RELN_ENST00000424685.2_Missense_Mutation_p.A643T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	643					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGGGTTAGTGCTGCGTTAGGA	0.403																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(1927-1929)Gca>Aca		reelin							233.0	198.0	210.0					7																	103290796		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103290796C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1927G>A	7.37:g.103290796C>T	ENSP00000392423:p.Ala643Thr					RELN_ENST00000343529.5_Missense_Mutation_p.A643T|RELN_ENST00000424685.2_Missense_Mutation_p.A643T	p.A643T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	16	2086	-			643					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1927G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	32	5.164056	0.94727	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23348	1.91;2.19;1.97	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	L	0.31664	0.95	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.85130	0.997;0.98	T	0.07635	-1.0762	10	0.42905	T	0.14	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	643;643	P78509-2;P78509	.;RELN_HUMAN	T	643	ENSP00000392423:A643T;ENSP00000345694:A643T;ENSP00000388446:A643T	ENSP00000345694:A643T	A	-	1	0	RELN	103078032	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.384000	0.66225	2.894000	0.99253	0.591000	0.81541	GCA		0.403	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		3	77	0	0	0	0.115264	0	3	77				
GUCY2C	2984	broad.mit.edu	37	12	14794127	14794127	+	Missense_Mutation	SNP	G	G	A	rs148314105		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr12:14794127G>A	ENST00000261170.3	-	18	2093	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	653	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TTGGCTTGGCGGAGGTGCTCT	0.498																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1957-1959)Cgc>Tgc		guanylate cyclase 2C (heat stable enterotoxin receptor)		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	122.0	105.0	111.0		1957	4.4	1.0	12	dbSNP_134	111	0,8600		0,0,4300	no	missense	GUCY2C	NM_004963.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	653/1074	14794127	1,13005	2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14794127G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1957C>T	12.37:g.14794127G>A	ENSP00000261170:p.Arg653Cys						p.R653C	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			18	2093	-			653			Protein kinase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1957C>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305444	0.81247	2.27E-4	0.0	ENSG00000070019	ENST00000261170	D	0.83419	-1.72	5.34	4.41	0.53225	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90521	0.7030	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.91727	0.5393	10	0.87932	D	0	.	15.3438	0.74317	0.0:0.0:0.8597:0.1403	.	653	P25092	GUC2C_HUMAN	C	653	ENSP00000261170:R653C	ENSP00000261170:R653C	R	-	1	0	GUCY2C	14685394	1.000000	0.71417	0.982000	0.44146	0.973000	0.67179	3.857000	0.55972	2.495000	0.84180	0.655000	0.94253	CGC		0.498	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			17	55	0	0	0	0.539581	0	17	55				
CCDC88B	283234	broad.mit.edu	37	11	64120928	64120928	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr11:64120928G>C	ENST00000356786.5	+	22	3837	c.3793G>C	c.(3793-3795)Gag>Cag	p.E1265Q	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.E417Q	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1265						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGCAGCCTGGAGAGTCGGGA	0.677																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3793-3795)Gag>Cag		coiled-coil domain containing 88B							25.0	33.0	30.0					11																	64120928		2200	4296	6496	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64120928G>C	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3793G>C	11.37:g.64120928G>C	ENSP00000349238:p.Glu1265Gln					CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.E417Q	p.E1265Q	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			22	3837	+			1265					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.3793G>C	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	17.47	3.397124	0.62177	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.60299	0.2;0.2	3.45	3.45	0.39498	.	.	.	.	.	T	0.55016	0.1894	N	0.17082	0.46	0.80722	D	1	D;D;P;D	0.69078	0.993;0.997;0.782;0.993	P;P;B;P	0.61592	0.722;0.891;0.187;0.722	T	0.56842	-0.7912	9	0.49607	T	0.09	.	10.5684	0.45186	0.0:0.0:1.0:0.0	.	1265;1147;401;1265	B2RTU8;A6NC98-4;A6NC98-5;A6NC98	.;.;.;CC88B_HUMAN	Q	1147;1265;417	ENSP00000349238:E1265Q;ENSP00000352974:E417Q	ENSP00000349238:E1265Q	E	+	1	0	CCDC88B	63877504	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.218000	0.65257	1.915000	0.55452	0.407000	0.27541	GAG		0.677	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		7	16	0	0	0	0.248553	0	7	16				
CCDC66	285331	broad.mit.edu	37	3	56627603	56627603	+	Missense_Mutation	SNP	A	A	G	rs553667522	byFrequency	TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:56627603A>G	ENST00000394672.3	+	9	1223	c.1153A>G	c.(1153-1155)Aca>Gca	p.T385A	CCDC66_ENST00000326595.7_Missense_Mutation_p.T351A|CCDC66_ENST00000436465.2_Missense_Mutation_p.T385A	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	385					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CTCTCAGTCAACACACAAACA	0.453													A|||	2	0.000399361	0.0	0.0	5008	,	,		18601	0.0		0.0	False		,,,				2504	0.002					ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1153-1155)Aca>Gca		coiled-coil domain containing 66							105.0	93.0	97.0					3																	56627603		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56627603A>G	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1153A>G	3.37:g.56627603A>G	ENSP00000378167:p.Thr385Ala					CCDC66_ENST00000326595.7_Missense_Mutation_p.T351A|CCDC66_ENST00000436465.2_Missense_Mutation_p.T385A	p.T385A	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	9	1223	+			385					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.1153A>G	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	A	5.383	0.255918	0.10185	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.24151	1.88;1.87;1.87;1.87	5.91	-0.452	0.12205	.	0.749500	0.12738	N	0.443249	T	0.19406	0.0466	L	0.43152	1.355	0.09310	N	0.999996	B	0.14438	0.01	B	0.13407	0.009	T	0.26430	-1.0103	10	0.26408	T	0.33	-0.4031	9.4668	0.38817	0.665:0.0:0.335:0.0	.	385	A2RUB6	CCD66_HUMAN	A	341;385;351;385	ENSP00000401451:T341A;ENSP00000378167:T385A;ENSP00000326050:T351A;ENSP00000404320:T385A	ENSP00000326050:T351A	T	+	1	0	CCDC66	56602643	0.016000	0.18221	0.000000	0.03702	0.166000	0.22503	0.389000	0.20751	-0.284000	0.09102	0.533000	0.62120	ACA		0.453	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		10	53	0	0	0	0.361761	0	10	53				
AZIN2	113451	broad.mit.edu	37	1	33583668	33583669	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:33583668_33583669insG	ENST00000294517.6	+	11	1782_1783	c.1195_1196insG	c.(1195-1197)tggfs	p.W399fs	ADC_ENST00000373443.3_Frame_Shift_Ins_p.W399fs|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Frame_Shift_Ins_p.W419fs|ADC_ENST00000398167.1_Frame_Shift_Ins_p.W419fs	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		399					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TTCCCCCTTTTGGGGGACCCAG	0.619																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1195-1197)gggfs		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583668_33583669insG																												ENST00000294517.6:c.1200dupG	1.37:g.33583673_33583673dupG	ENSP00000294517:p.Trp399fs					ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Frame_Shift_Ins_p.G419fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.G399fs|ADC_ENST00000398167.1_Frame_Shift_Ins_p.G419fs	p.G399fs	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			11	1782_1783	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	399					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Frame_Shift_Ins	INS	ENST00000294517.6	37	c.1195_1196insG	CCDS375.1																																																																																				0.619	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			8	57						8	57	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs						p.P6fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		6	5						6	5	---	---	---	---
TMEM8A	58986	broad.mit.edu	37	16	437259	437260	+	5'Flank	DEL	AT	AT	-	rs148097303		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr16:437259_437260delAT	ENST00000476735.1	-	0	0				Z97634.3_ENST00000412293.1_RNA			Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A						cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CTAATTCTAAATATATATATAT	0.421																																						ENST00000412293.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:437259_437260delAT	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996		16.37:g.437269_437270delAT	Exception_encountered							NR_024453.2						0	521	+								D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	RNA	DEL	ENST00000476735.1	37																																																																																						0.421	TMEM8A-007	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000313680.1	NM_021259		4	7						4	7	---	---	---	---
SMG1P3	100271836	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr16:21469994delA	ENST00000520823.2	-	0	749				snoU13_ENST00000459321.1_RNA																							ACTGTACATTAAAAAAAAAAA	0.294																																						ENST00000520823.2																			0																																																			0							g.chr16:21469994delA																													16.37:g.21469994delA														0	749	-									RNA	DEL	ENST00000520823.2	37																																																																																						0.294	CTD-2547E10.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000378302.2			3	5						3	5	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29683983	29683984	+	Frame_Shift_Ins	INS	-	-	A	rs587781651		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:29683983_29683984insA	ENST00000358273.4	+	53	8127_8128	c.7744_7745insA	c.(7744-7746)cagfs	p.Q2582fs	NF1_ENST00000444181.2_Frame_Shift_Ins_p.Q375fs|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Ins_p.Q2561fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2582					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCAGAAACTCAGAGGATTTCC	0.371			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(7744-7746)gagfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29683983_29683984insA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7745dupA	17.37:g.29683984_29683984dupA	ENSP00000351015:p.Gln2582fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000444181.2_Frame_Shift_Ins_p.E375fs|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Ins_p.E2561fs	p.E2582fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	53	8127_8128	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2582					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.7744_7745insA	CCDS42292.1																																																																																				0.371	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		37	194						37	194	---	---	---	---
ABHD16B	140701	broad.mit.edu	37	20	62494293	62494293	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr20:62494293delG	ENST00000369916.3	+	1	1728	c.1400delG	c.(1399-1401)tggfs	p.W467fs	TPD52L2_ENST00000348257.5_5'Flank|TPD52L2_ENST00000369927.4_5'Flank|TPD52L2_ENST00000351424.4_5'Flank|C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000358548.4_5'Flank|TPD52L2_ENST00000346249.4_5'Flank|TPD52L2_ENST00000352482.4_5'Flank|TPD52L2_ENST00000217121.5_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	467							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						CAGTTGCCCTGGCGGCTGTAA	0.632																																						ENST00000369916.3																			0				endometrium(2)|kidney(1)|lung(3)	6						c.(1399-1401)tgfs		abhydrolase domain containing 16B							17.0	13.0	15.0					20																	62494293		2178	4253	6431	SO:0001589	frameshift_variant	140701						hydrolase activity	g.chr20:62494293delG		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.1400delG	20.37:g.62494293delG	ENSP00000358932:p.Trp467fs						p.W467fs	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN			1	1728	+			467						Frame_Shift_Del	DEL	ENST00000369916.3	37	c.1400delG	CCDS13539.1																																																																																				0.632	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			2	4						2	4	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10944697	10944697	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr21:10944697delA	ENST00000361285.4	-	11	866	c.537delT	c.(535-537)tttfs	p.F179fs	TPTE_ENST00000298232.7_Frame_Shift_Del_p.F161fs|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	179					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		ACTTAATGTCAAAAAAAATGT	0.299																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(481-483)ttfs		transmembrane phosphatase with tensin homology							157.0	168.0	164.0					21																	10944697		2203	4300	6503	SO:0001589	frameshift_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10944697delA	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.537delT	21.37:g.10944697delA	ENSP00000355208:p.Phe179fs					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs|TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs	p.F161fs	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	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)	10	850	-			179					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Frame_Shift_Del	DEL	ENST00000361285.4	37	c.483delT	CCDS13560.2																																																																																				0.299	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			7	210						7	210	---	---	---	---
