#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
FRAS1	80144	broad.mit.edu	37	4	79462267	79462267	+	Missense_Mutation	SNP	A	A	C			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr4:79462267A>C	ENST00000264895.6	+	74	12468	c.12028A>C	c.(12028-12030)Aca>Cca	p.T4010P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	4006					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAAGATGGAACAGAAGTTTA	0.353																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(12028-12030)Aca>Cca		Fraser syndrome 1							26.0	25.0	26.0					4																	79462267		1872	4101	5973	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79462267A>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.12028A>C	4.37:g.79462267A>C	ENSP00000264895:p.Thr4010Pro						p.T4010P	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			74	12468	+			4005					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.12028A>C	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.204764|4.204764	0.79127|0.79127	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.57273	.|0.41	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.054136	.|0.64402	.|D	.|0.000001	T|T	0.69913|0.69913	0.3164|0.3164	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.72343|0.72343	-0.4322|-0.4322	5|10	.|0.72032	.|D	.|0.01	.|.	16.2087|16.2087	0.82144|0.82144	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|4010	.|E9PHH6	.|.	T|P	2238|4010	.|ENSP00000264895:T4010P	.|ENSP00000264895:T4010P	N|T	+|+	2|1	0|0	FRAS1|FRAS1	79681291|79681291	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.876000|0.876000	0.50452|0.50452	9.118000|9.118000	0.94355|0.94355	2.233000|2.233000	0.73108|0.73108	0.482000|0.482000	0.46254|0.46254	AAC|ACA		0.353	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	10	0	0	0	1	0	5	10				
RGS6	9628	broad.mit.edu	37	14	73002935	73002935	+	Silent	SNP	C	C	T			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr14:73002935C>T	ENST00000553530.1	+	16	1527	c.1320C>T	c.(1318-1320)cgC>cgT	p.R440R	RGS6_ENST00000406236.4_Silent_p.R440R|RGS6_ENST00000402788.2_Silent_p.R440R|RGS6_ENST00000556437.1_Silent_p.R440R|RGS6_ENST00000553525.1_Silent_p.R440R|RGS6_ENST00000404301.2_Silent_p.R440R|RGS6_ENST00000554782.1_Silent_p.R301R|RGS6_ENST00000434263.2_Silent_p.R371R|RGS6_ENST00000355512.6_Silent_p.R440R|RGS6_ENST00000555571.1_Silent_p.R440R|RGS6_ENST00000407322.4_Silent_p.R440R|RGS6_ENST00000343854.6_Silent_p.R403R	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	440	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GCTATGCCCGCTTCCTCCGGT	0.512																																					Ovarian(143;1926 2468 21071 48641)	ENST00000553530.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1318-1320)cgC>cgT		regulator of G-protein signaling 6							150.0	136.0	141.0					14																	73002935		2203	4300	6503	SO:0001819	synonymous_variant	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:73002935C>T	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1320C>T	14.37:g.73002935C>T						RGS6_ENST00000343854.6_Silent_p.R403R|RGS6_ENST00000402788.2_Silent_p.R440R|RGS6_ENST00000404301.2_Silent_p.R440R|RGS6_ENST00000406236.4_Silent_p.R440R|RGS6_ENST00000556437.1_Silent_p.R440R|RGS6_ENST00000355512.6_Silent_p.R440R|RGS6_ENST00000554782.1_Silent_p.R301R|RGS6_ENST00000434263.2_Silent_p.R371R|RGS6_ENST00000407322.4_Silent_p.R440R|RGS6_ENST00000553525.1_Silent_p.R440R|RGS6_ENST00000555571.1_Silent_p.R440R	p.R440R	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	16	1527	+			440			RGS.		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	ENST00000553530.1	37	c.1320C>T	CCDS9808.1																																																																																				0.512	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			6	80	0	0	0	1	0	6	80				
ABHD16B	140701	broad.mit.edu	37	20	62493651	62493651	+	Missense_Mutation	SNP	C	C	T	rs369503558		TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr20:62493651C>T	ENST00000369916.3	+	1	1086	c.758C>T	c.(757-759)gCc>gTc	p.A253V	TPD52L2_ENST00000358548.4_5'Flank|TPD52L2_ENST00000346249.4_5'Flank|TPD52L2_ENST00000352482.4_5'Flank|TPD52L2_ENST00000348257.5_5'Flank|TPD52L2_ENST00000369927.4_5'Flank|TPD52L2_ENST00000217121.5_5'Flank|C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000351424.4_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	253							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						GGCTTCACGGCCACCTGGGCC	0.672																																						ENST00000369916.3																			0				endometrium(2)|kidney(1)|lung(3)	6						c.(757-759)gCc>gTc		abhydrolase domain containing 16B							37.0	28.0	31.0					20																	62493651		2201	4298	6499	SO:0001583	missense	140701						hydrolase activity	g.chr20:62493651C>T		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.758C>T	20.37:g.62493651C>T	ENSP00000358932:p.Ala253Val						p.A253V	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN			1	1086	+			253						Missense_Mutation	SNP	ENST00000369916.3	37	c.758C>T	CCDS13539.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371139	0.82573	.	.	ENSG00000183260	ENST00000369916	T	0.62105	0.05	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	M	0.73753	2.245	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.81300	-0.0995	10	0.66056	D	0.02	-13.5425	15.8993	0.79359	0.0:1.0:0.0:0.0	.	253	Q9H3Z7	ABHGB_HUMAN	V	253	ENSP00000358932:A253V	ENSP00000358932:A253V	A	+	2	0	ABHD16B	61964095	1.000000	0.71417	0.997000	0.53966	0.924000	0.55760	4.938000	0.63519	2.353000	0.79882	0.491000	0.48974	GCC		0.672	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			4	24	0	0	0	1	0	4	24				
ZBTB14	7541	broad.mit.edu	37	18	5291231	5291231	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr18:5291231T>G	ENST00000357006.4	-	4	1314	c.976A>C	c.(976-978)Atc>Ctc	p.I326L	ZBTB14_ENST00000400143.3_Missense_Mutation_p.I326L	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	326					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										CCTGTGTGGATTTTTAGGTGT	0.453																																						ENST00000357006.4																			0											c.(976-978)Atc>Ctc		zinc finger and BTB domain containing 14							148.0	145.0	146.0					18																	5291231		2203	4300	6503	SO:0001583	missense	7541							g.chr18:5291231T>G	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.976A>C	18.37:g.5291231T>G	ENSP00000349503:p.Ile326Leu					ZBTB14_ENST00000400143.3_Missense_Mutation_p.I326L	p.I326L	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1					4	1314	-								O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.976A>C	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.531417	0.45073	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.07327	3.2;3.2	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.06050	0.0157	N	0.10809	0.05	0.80722	D	1	B	0.32467	0.372	B	0.29176	0.099	T	0.41980	-0.9478	10	0.59425	D	0.04	-13.482	16.143	0.81539	0.0:0.0:0.0:1.0	.	326	O43829	ZF161_HUMAN	L	326	ENSP00000349503:I326L;ENSP00000383009:I326L	ENSP00000349503:I326L	I	-	1	0	ZFP161	5281231	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	6.233000	0.72320	2.206000	0.71126	0.528000	0.53228	ATC		0.453	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		9	23	0	0	0	1	0	9	23				
TMEM14A	28978	broad.mit.edu	37	6	52548949	52548949	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr6:52548949G>C	ENST00000211314.4	+	4	399	c.246G>C	c.(244-246)ttG>ttC	p.L82F		NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	82						integral component of membrane (GO:0016021)				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					CTGCTGGTTTGGTTGCAGGTT	0.348																																						ENST00000211314.4																			0				endometrium(2)|lung(2)	4						c.(244-246)ttG>ttC		transmembrane protein 14A							152.0	154.0	153.0					6																	52548949		2203	4300	6503	SO:0001583	missense	28978					integral to membrane		g.chr6:52548949G>C	AF239771	CCDS4943.1	6p12.3	2008-02-05			ENSG00000096092	ENSG00000096092			21076	protein-coding gene	gene with protein product							Standard	NM_014051		Approved	PTD011, C6orf73	uc003pax.3	Q9Y6G1	OTTHUMG00000014856	ENST00000211314.4:c.246G>C	6.37:g.52548949G>C	ENSP00000211314:p.Leu82Phe						p.L82F	NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN			4	399	+	Lung NSC(77;0.118)		82					B2R552	Missense_Mutation	SNP	ENST00000211314.4	37	c.246G>C	CCDS4943.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054581	0.36277	.	.	ENSG00000096092	ENST00000211314	T	0.53640	0.61	5.97	3.19	0.36642	.	0.208640	0.40302	N	0.001130	T	0.16769	0.0403	.	.	.	0.39284	D	0.964614	B	0.28971	0.229	B	0.26693	0.072	T	0.10337	-1.0634	9	0.56958	D	0.05	-27.9493	2.2363	0.04009	0.1792:0.2275:0.4676:0.1257	.	82	Q9Y6G1	TM14A_HUMAN	F	82	ENSP00000211314:L82F	ENSP00000211314:L82F	L	+	3	2	TMEM14A	52656908	0.981000	0.34729	1.000000	0.80357	0.821000	0.46438	-0.012000	0.12699	0.867000	0.35654	0.650000	0.86243	TTG		0.348	TMEM14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040916.1	NM_014051		5	30	0	0	0	1	0	5	30				
PGLYRP2	114770	broad.mit.edu	37	19	15586601	15586601	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr19:15586601G>A	ENST00000340880.4	-	2	1360	c.880C>T	c.(880-882)Cca>Tca	p.P294S	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.P294S	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	294					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTGAGGGATGGCCGGGGCTCA	0.617																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(880-882)Cca>Tca		peptidoglycan recognition protein 2							33.0	36.0	35.0					19																	15586601		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15586601G>A	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.880C>T	19.37:g.15586601G>A	ENSP00000345968:p.Pro294Ser					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P294S	p.P294S			Q96PD5	PGRP2_HUMAN			2	1009	-			294					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.880C>T	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316991	0.23908	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.04603	3.61;3.59	5.31	3.18	0.36537	.	0.617023	0.16083	N	0.230440	T	0.08758	0.0217	M	0.78637	2.42	0.09310	N	1	B;B	0.29270	0.24;0.155	B;B	0.34093	0.175;0.05	T	0.17992	-1.0351	10	0.37606	T	0.19	-15.4209	7.4572	0.27274	0.0901:0.1674:0.7425:0.0	.	294;294	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	S	294	ENSP00000345968:P294S;ENSP00000292609:P294S	ENSP00000292609:P294S	P	-	1	0	PGLYRP2	15447601	0.888000	0.30383	0.174000	0.22961	0.002000	0.02628	2.806000	0.47947	0.633000	0.30452	-0.304000	0.09214	CCA		0.617	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		3	35	0	0	0	1	0	3	35				
NCDN	23154	broad.mit.edu	37	1	36030872	36030872	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:36030872A>T	ENST00000373243.2	+	7	2181	c.1798A>T	c.(1798-1800)Atc>Ttc	p.I600F	NCDN_ENST00000373253.3_Missense_Mutation_p.I583F|NCDN_ENST00000356090.4_Missense_Mutation_p.I600F	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	600					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGCAGCTGCCATCCTCTTCCT	0.627											OREG0013355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1798-1800)Atc>Ttc		neurochondrin							118.0	127.0	124.0					1																	36030872		2203	4300	6503	SO:0001583	missense	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36030872A>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1798A>T	1.37:g.36030872A>T	ENSP00000362340:p.Ile600Phe		OREG0013355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	859	NCDN_ENST00000356090.4_Missense_Mutation_p.I600F|NCDN_ENST00000373253.3_Missense_Mutation_p.I583F	p.I600F	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			7	2181	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	600					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	c.1798A>T	CCDS392.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.980010	0.74474	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000397922	.	.	.	5.1	5.1	0.69264	.	0.059335	0.64402	D	0.000002	T	0.68137	0.2968	L	0.56769	1.78	0.58432	D	0.999999	D	0.59357	0.985	P	0.58130	0.833	T	0.72235	-0.4352	9	0.87932	D	0	.	14.0774	0.64897	1.0:0.0:0.0:0.0	.	600	Q9UBB6	NCDN_HUMAN	F	583;600;600;25	.	ENSP00000348394:I600F	I	+	1	0	NCDN	35803459	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.254000	0.43214	1.934000	0.56057	0.460000	0.39030	ATC		0.627	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		5	117	0	0	0	1	0	5	117				
TOPBP1	11073	broad.mit.edu	37	3	133331259	133331259	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:133331259A>G	ENST00000260810.5	-	24	4140	c.4009T>C	c.(4009-4011)Tgc>Cgc	p.C1337R		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1337	BRCT 7. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GCAGTCCTGCAGGCTTCAAGG	0.493								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(4009-4011)Tgc>Cgc	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							91.0	91.0	91.0					3																	133331259		1934	4164	6098	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133331259A>G	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4009T>C	3.37:g.133331259A>G	ENSP00000260810:p.Cys1337Arg						p.C1337R	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			24	4140	-			1337			BRCT 7.		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.4009T>C	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.350045	0.82132	.	.	ENSG00000163781	ENST00000260810	T	0.64991	-0.13	5.48	5.48	0.80851	BRCT (4);	0.040254	0.85682	D	0.000000	T	0.81828	0.4905	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85443	0.1156	10	0.87932	D	0	.	15.5783	0.76410	1.0:0.0:0.0:0.0	.	1337	Q92547	TOPB1_HUMAN	R	1337	ENSP00000260810:C1337R	ENSP00000260810:C1337R	C	-	1	0	TOPBP1	134813949	1.000000	0.71417	0.783000	0.31826	0.960000	0.62799	9.339000	0.96797	2.081000	0.62600	0.533000	0.62120	TGC		0.493	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		4	54	0	0	0	1	0	4	54				
NRROS	375387	broad.mit.edu	37	3	196388024	196388024	+	Missense_Mutation	SNP	G	G	A	rs139647726		TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:196388024G>A	ENST00000328557.4	+	3	1713	c.1510G>A	c.(1510-1512)Gcc>Acc	p.A504T		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	504					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TGGGAGCCTCGCCCCACTCCA	0.587													g|||	1	0.000199681	0.0	0.0	5008	,	,		17557	0.0		0.001	False		,,,				2504	0.0					ENST00000328557.4																			0											c.(1510-1512)Gcc>Acc		negative regulator of reactive oxygen species		A	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	84.0	82.0	83.0		1510	-6.6	0.0	3	dbSNP_134	83	0,8600		0,0,4300	no	missense	LRRC33	NM_198565.1	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	504/693	196388024	1,13005	2203	4300	6503	SO:0001583	missense	375387							g.chr3:196388024G>A	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1510G>A	3.37:g.196388024G>A	ENSP00000328625:p.Ala504Thr						p.A504T	NM_198565.1	NP_940967.1					3	1713	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.1510G>A	CCDS3319.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	0.008	-1.866335	0.00547	2.27E-4	0.0	ENSG00000174004	ENST00000328557	T	0.52295	0.67	5.97	-6.58	0.01836	.	1.222070	0.05601	N	0.576385	T	0.29028	0.0721	L	0.33485	1.01	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30707	-0.9969	10	0.09843	T	0.71	.	8.578	0.33609	0.5572:0.0:0.2957:0.1471	.	504	Q86YC3	LRC33_HUMAN	T	504	ENSP00000328625:A504T	ENSP00000328625:A504T	A	+	1	0	LRRC33	197872421	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.462000	0.02364	-0.685000	0.05177	-0.726000	0.03593	GCC		0.587	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		23	54	0	0	0	1	0	23	54				
CLEC6A	93978	broad.mit.edu	37	12	8612205	8612205	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:8612205T>G	ENST00000382073.3	+	3	320	c.134T>G	c.(133-135)tTt>tGt	p.F45C		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	45					defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					ACTTACCATTTTACATATGGT	0.393																																						ENST00000382073.3																			0				breast(1)|large_intestine(2)|lung(7)	10						c.(133-135)tTt>tGt		C-type lectin domain family 6, member A							163.0	162.0	162.0					12																	8612205		2203	4300	6503	SO:0001583	missense	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8612205T>G	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.134T>G	12.37:g.8612205T>G	ENSP00000371505:p.Phe45Cys						p.F45C	NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN			3	320	+	Lung SC(5;0.184)		45					A2RUK3	Missense_Mutation	SNP	ENST00000382073.3	37	c.134T>G	CCDS31739.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.780421	0.31502	.	.	ENSG00000205846	ENST00000382073	T	0.17854	2.25	3.38	2.24	0.28232	.	.	.	.	.	T	0.20129	0.0484	L	0.60455	1.87	0.09310	N	1	D	0.58620	0.983	P	0.47075	0.536	T	0.13150	-1.0520	9	0.72032	D	0.01	.	5.196	0.15239	0.0:0.1343:0.0:0.8657	.	45	Q6EIG7	CLC6A_HUMAN	C	45	ENSP00000371505:F45C	ENSP00000371505:F45C	F	+	2	0	CLEC6A	8503472	0.042000	0.20092	0.003000	0.11579	0.035000	0.12851	2.174000	0.42482	0.679000	0.31345	0.528000	0.53228	TTT		0.393	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		16	77	0	0	0	1	0	16	77				
KRT81	3887	broad.mit.edu	37	12	52685222	52685222	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:52685222G>A	ENST00000327741.5	-	1	96	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	10	Head.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGAAGGCGCGCCCACCAAAT	0.657																																						ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(28-30)Cgc>Tgc		keratin 81							26.0	30.0	28.0					12																	52685222		2179	4231	6410	SO:0001583	missense	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52685222G>A	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.28C>T	12.37:g.52685222G>A	ENSP00000369349:p.Arg10Cys					KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	p.R10C	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	96	-			10			Head.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	c.28C>T	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715976	0.48622	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.83837	-1.77	5.17	4.28	0.50868	.	1.300300	0.06539	U	0.742939	D	0.88351	0.6413	M	0.87758	2.905	0.41694	D	0.989365	D	0.58970	0.984	P	0.48704	0.587	T	0.82794	-0.0281	10	0.87932	D	0	.	8.8261	0.35057	0.0:0.1526:0.6664:0.1811	.	10	Q14533	KRT81_HUMAN	C	10	ENSP00000369349:R10C	ENSP00000369349:R10C	R	-	1	0	KRT81	50971489	0.994000	0.37717	0.954000	0.39281	0.329000	0.28539	3.284000	0.51708	1.156000	0.42514	0.549000	0.68633	CGC		0.657	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		7	12	0	0	0	1	0	7	12				
CELSR2	1952	broad.mit.edu	37	1	109810235	109810235	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:109810235T>C	ENST00000271332.3	+	16	6140	c.6079T>C	c.(6079-6081)Tcc>Ccc	p.S2027P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2027					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAACTGCACGTCCATCACCTT	0.592																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(6079-6081)Tcc>Ccc		cadherin, EGF LAG seven-pass G-type receptor 2							111.0	110.0	110.0					1																	109810235		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109810235T>C	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6079T>C	1.37:g.109810235T>C	ENSP00000271332:p.Ser2027Pro						p.S2027P	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	16	6140	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2027					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.6079T>C	CCDS796.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.626263	0.66901	.	.	ENSG00000143126	ENST00000271332	T	0.72835	-0.69	4.6	4.6	0.57074	GPCR, family 2, extracellular hormone receptor domain (2);	.	.	.	.	T	0.77405	0.4125	M	0.84683	2.71	0.52099	D	0.999943	D	0.71674	0.998	D	0.64410	0.925	T	0.81382	-0.0958	9	0.87932	D	0	.	6.9851	0.24723	0.1466:0.0:0.1526:0.7008	.	2027	Q9HCU4	CELR2_HUMAN	P	2027	ENSP00000271332:S2027P	ENSP00000271332:S2027P	S	+	1	0	CELSR2	109611758	0.983000	0.35010	0.285000	0.24819	0.872000	0.50106	2.083000	0.41615	1.933000	0.56026	0.402000	0.26972	TCC		0.592	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		10	45	0	0	0	1	0	10	45				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		5	45	0	0	0	1	0	5	45				
TP53	7157	broad.mit.edu	37	17	7578206	7578206	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:7578206T>C	ENST00000269305.4	-	6	832	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	TP53_ENST00000420246.2_Missense_Mutation_p.S215G|TP53_ENST00000445888.2_Missense_Mutation_p.S215G|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.S215G|TP53_ENST00000455263.2_Missense_Mutation_p.S215G|TP53_ENST00000413465.2_Missense_Mutation_p.S215G	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	215	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(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)	ACCACCACACTATGTCGAAAA	0.537		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"""		43	Substitution - Missense(13)|Deletion - Frameshift(11)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(4)|Insertion - In frame(1)|Complex - deletion inframe(1)	p.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)	ovary(6)|biliary_tract(5)|bone(5)|stomach(4)|oesophagus(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|lung(2)|urinary_tract(1)|liver(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(643-645)Agt>Ggt	Other conserved DNA damage response genes	tumor protein p53							125.0	112.0	116.0					17																	7578206		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.chr17:7578206T>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.643A>G	17.37:g.7578206T>C	ENSP00000269305:p.Ser215Gly	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_ENST00000269305.4_Missense_Mutation_p.S215G|TP53_ENST00000359597.4_Missense_Mutation_p.S215G|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000445888.2_Missense_Mutation_p.S215G|TP53_ENST00000455263.2_Missense_Mutation_p.S215G|TP53_ENST00000574684.1_Intron	p.S215G	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)	6	775	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	215		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.643A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274381	0.80580	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.28	4.18	0.49190	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90705	3.14	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.995;1.0;0.98;0.996;1.0;1.0;0.999	D	0.97163	0.9839	10	0.87932	D	0	-18.3023	10.6958	0.45899	0.0:0.0:0.1605:0.8394	.	176;215;215;122;215;215;215	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	215;215;215;215;215;215;204;122;83;122;83	ENSP00000410739:S215G;ENSP00000352610:S215G;ENSP00000269305:S215G;ENSP00000398846:S215G;ENSP00000391127:S215G;ENSP00000391478:S215G;ENSP00000425104:S83G;ENSP00000423862:S122G	ENSP00000269305:S215G	S	-	1	0	TP53	7518931	1.000000	0.71417	0.471000	0.27229	0.962000	0.63368	6.146000	0.71777	0.919000	0.36945	0.460000	0.39030	AGT		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	13	0	0	0	1	0	10	13				
THRAP3	9967	broad.mit.edu	37	1	36752690	36752690	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:36752690C>G	ENST00000354618.5	+	4	1083	c.859C>G	c.(859-861)Ctg>Gtg	p.L287V	THRAP3_ENST00000469141.2_Missense_Mutation_p.L287V	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	287	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGCTCAACTCTGCCGAGTGG	0.602			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(859-861)Ctg>Gtg		thyroid hormone receptor associated protein 3							75.0	76.0	76.0					1																	36752690		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752690C>G	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.859C>G	1.37:g.36752690C>G	ENSP00000346634:p.Leu287Val					THRAP3_ENST00000469141.2_Missense_Mutation_p.L287V	p.L287V	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			4	1083	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	287			Ser-rich.		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.859C>G	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	1.319	-0.600134	0.03744	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.13196	2.61;2.61	5.85	2.89	0.33648	.	0.501528	0.17975	N	0.155726	T	0.08935	0.0221	L	0.44542	1.39	0.21445	N	0.999684	B	0.02656	0.0	B	0.04013	0.001	T	0.41342	-0.9514	10	0.11182	T	0.66	0.1294	3.0006	0.06012	0.2593:0.4832:0.1192:0.1383	.	287	Q9Y2W1	TR150_HUMAN	V	287	ENSP00000346634:L287V;ENSP00000433825:L287V	ENSP00000346634:L287V	L	+	1	2	THRAP3	36525277	0.001000	0.12720	0.879000	0.34478	0.223000	0.24884	0.039000	0.13884	0.336000	0.23639	-0.176000	0.13171	CTG		0.602	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		14	72	0	0	0	1	0	14	72				
GMPPA	29926	broad.mit.edu	37	2	220371481	220371481	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:220371481G>C	ENST00000358215.3	+	13	1593	c.1224G>C	c.(1222-1224)aaG>aaC	p.K408N	GMPPA_ENST00000313597.5_Missense_Mutation_p.K408N|GMPPA_ENST00000341142.3_Missense_Mutation_p.K408N|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.K408N|GMPPA_ENST00000373917.3_Missense_Mutation_p.K461N	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	408					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TGCCACACAAGGAGCTGAGCC	0.617																																						ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(1222-1224)aaG>aaC		GDP-mannose pyrophosphorylase A							103.0	82.0	89.0					2																	220371481		2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220371481G>C	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.1224G>C	2.37:g.220371481G>C	ENSP00000350949:p.Lys408Asn					GMPPA_ENST00000373908.1_Missense_Mutation_p.K408N|GMPPA_ENST00000373917.3_Missense_Mutation_p.K461N|GMPPA_ENST00000341142.3_Missense_Mutation_p.K408N|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.K408N	p.K408N	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	13	1593	+		Renal(207;0.0183)	408					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.1224G>C	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017171	0.75161	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	T;T;T;T;T	0.45276	0.9;0.95;0.9;0.9;0.9	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.68329	0.2989	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74711	-0.3573	10	0.87932	D	0	-11.5543	10.0768	0.42366	0.0958:0.0:0.9042:0.0	.	461;408	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	N	408;461;408;408;408	ENSP00000315925:K408N;ENSP00000363027:K461N;ENSP00000350949:K408N;ENSP00000363016:K408N;ENSP00000340760:K408N	ENSP00000315925:K408N	K	+	3	2	GMPPA	220079725	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.934000	0.70138	1.977000	0.57605	0.467000	0.42956	AAG		0.617	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		8	20	0	0	0	1	0	8	20				
CLN3	1201	broad.mit.edu	37	16	28499946	28499946	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr16:28499946G>A	ENST00000569430.1	-	6	1079	c.260C>T	c.(259-261)tCa>tTa	p.S87L	CLN3_ENST00000360019.2_Missense_Mutation_p.S87L|CLN3_ENST00000357076.5_Missense_Mutation_p.S87L|CLN3_ENST00000355477.5_Missense_Mutation_p.S87L|CLN3_ENST00000395653.4_Missense_Mutation_p.H14Y|CLN3_ENST00000357806.7_Missense_Mutation_p.S87L|CLN3_ENST00000357857.9_Missense_Mutation_p.S33L|CLN3_ENST00000333496.9_Intron|CLN3_ENST00000567963.1_Missense_Mutation_p.S87L|CLN3_ENST00000359984.7_Missense_Mutation_p.S87L|CLN3_ENST00000535392.1_Intron|CLN3_ENST00000354630.5_Missense_Mutation_p.S87L|CLN3_ENST00000568224.1_Intron|CLN3_ENST00000565316.1_Missense_Mutation_p.S87L			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	87					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						AAATCGTGATGAGCTGTTGTG	0.577																																						ENST00000569430.1																			0				breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						c.(259-261)tCa>tTa		ceroid-lipofuscinosis, neuronal 3							237.0	197.0	211.0					16																	28499946		2197	4300	6497	SO:0001583	missense	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28499946G>A	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.260C>T	16.37:g.28499946G>A	ENSP00000454229:p.Ser87Leu					CLN3_ENST00000535392.1_Intron|CLN3_ENST00000360019.2_Missense_Mutation_p.S87L|CLN3_ENST00000395653.4_Missense_Mutation_p.H14Y|CLN3_ENST00000357806.7_Missense_Mutation_p.S87L|CLN3_ENST00000565316.1_Missense_Mutation_p.S87L|CLN3_ENST00000333496.9_Intron|CLN3_ENST00000357857.9_Missense_Mutation_p.S33L|CLN3_ENST00000357076.5_Missense_Mutation_p.S87L|CLN3_ENST00000359984.7_Missense_Mutation_p.S87L|CLN3_ENST00000568224.1_Intron|CLN3_ENST00000355477.5_Missense_Mutation_p.S87L|CLN3_ENST00000567963.1_Missense_Mutation_p.S87L|CLN3_ENST00000354630.5_Missense_Mutation_p.S87L	p.S87L			Q13286	CLN3_HUMAN			6	1079	-			87					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.260C>T	CCDS10632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.61|13.61	2.289775|2.289775	0.40494|0.40494	.|.	.|.	ENSG00000188603|ENSG00000188603	ENST00000395653|ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000357806;ENST00000357076	D|D;D;D;D;D;D;D	0.96011|0.97138	-3.88|-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;-4.26	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Major facilitator superfamily domain, general substrate transporter (1);	.|0.507468	.|0.21503	.|N	.|0.073486	D|D	0.97031|0.97031	0.9030|0.9030	M|M	0.66939|0.66939	2.045|2.045	0.53005|0.53005	D|D	0.999963|0.999963	P;P|B;P;P;P;B;P;B;P	0.52842|0.51057	0.956;0.608|0.161;0.765;0.863;0.941;0.394;0.532;0.4;0.905	B;B|B;P;B;P;B;B;B;P	0.37650|0.49477	0.255;0.099|0.116;0.522;0.438;0.612;0.379;0.353;0.405;0.531	D|D	0.96725|0.96725	0.9535|0.9535	9|10	0.87932|0.45353	D|T	0|0.12	-9.534|-9.534	17.2401|17.2401	0.87010|0.87010	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	14;14|87;87;138;33;33;87;87;87	B4DFT5;B4DMY6|Q13286-3;Q13286-4;B4DIA8;O95093;O95086;Q13286-2;Q13286;O95089	.;.|.;.;.;.;.;.;CLN3_HUMAN;.	Y|L	14|87;87;87;87;33;87;87	ENSP00000379014:H14Y|ENSP00000353073:S87L;ENSP00000353116:S87L;ENSP00000346650:S87L;ENSP00000347660:S87L;ENSP00000350523:S33L;ENSP00000350457:S87L;ENSP00000349586:S87L	ENSP00000379014:H14Y|ENSP00000346650:S87L	H|S	-|-	1|2	0|0	CLN3|CLN3	28407447|28407447	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.643000|0.643000	0.38383|0.38383	3.402000|3.402000	0.52608|0.52608	2.675000|2.675000	0.91044|0.91044	0.651000|0.651000	0.88453|0.88453	CAT|TCA		0.577	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			4	74	0	0	0	1	0	4	74				
DCDC1	341019	broad.mit.edu	37	11	30942332	30942332	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr11:30942332C>T	ENST00000406071.2	-	0	920				DCDC1_ENST00000597505.1_Missense_Mutation_p.S1095N|DCDC1_ENST00000339794.5_Missense_Mutation_p.S174N			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGAATTTCACTGGAAGCATT	0.438																																						ENST00000406071.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31								doublecortin domain containing 1							130.0	106.0	114.0					11																	30942332		2202	4299	6501			341019				intracellular signal transduction			g.chr11:30942332C>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000406071.2:c.-512G>A	11.37:g.30942332C>T						DCDC1_ENST00000339794.5_Missense_Mutation_p.S174N|DCDC1_ENST00000597505.1_Missense_Mutation_p.S1095N				P59894	DCDC1_HUMAN			0	920	-	Lung SC(675;0.225)							A6PVL6|B7WNX6|Q6ZU04	Translation_Start_Site	SNP	ENST00000406071.2	37			.	.	.	.	.	.	.	.	.	.	C	2.659	-0.280137	0.05642	.	.	ENSG00000170959	ENST00000339794	.	.	.	5.52	1.95	0.26073	.	0.727071	0.13253	N	0.401954	T	0.31295	0.0792	L	0.60455	1.87	0.09310	N	1	B	0.22276	0.067	B	0.17433	0.018	T	0.20174	-1.0283	9	0.12430	T	0.62	-3.6764	4.8059	0.13319	0.0:0.4223:0.4262:0.1515	.	174	Q6ZRR9	DCDC5_HUMAN	N	174	.	ENSP00000341700:S174N	S	-	2	0	DCDC5	30898908	0.001000	0.12720	0.988000	0.46212	0.112000	0.19704	0.427000	0.21379	1.327000	0.45338	-0.165000	0.13383	AGT		0.438	DCDC1-202	KNOWN	basic	protein_coding	protein_coding		NM_181807		4	16	0	0	0	1	0	4	16				
CLEC6A	93978	broad.mit.edu	37	12	8612215	8612215	+	Silent	SNP	T	T	G			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:8612215T>G	ENST00000382073.3	+	3	330	c.144T>G	c.(142-144)ggT>ggG	p.G48G		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	48					defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TTACATATGGTGAAACTGGCA	0.378																																						ENST00000382073.3																			0				breast(1)|large_intestine(2)|lung(7)	10						c.(142-144)ggT>ggG		C-type lectin domain family 6, member A							164.0	164.0	164.0					12																	8612215		2203	4300	6503	SO:0001819	synonymous_variant	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8612215T>G	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.144T>G	12.37:g.8612215T>G							p.G48G	NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN			3	330	+	Lung SC(5;0.184)		48					A2RUK3	Silent	SNP	ENST00000382073.3	37	c.144T>G	CCDS31739.1																																																																																				0.378	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		17	77	0	0	0	1	0	17	77				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			5	25	0	0	0	1	0	5	25				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and 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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	17	0	0	0	1	0	9	17				
FGA	2243	broad.mit.edu	37	4	155505941	155505941	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr4:155505941C>A	ENST00000302053.3	-	6	2014	c.1936G>T	c.(1936-1938)Ggc>Tgc	p.G646C		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	646	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTGAAAATGCCACTTTGGGTA	0.373																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1936-1938)Ggc>Tgc		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						46.0	47.0	46.0					4																	155505941		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505941C>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1936G>T	4.37:g.155505941C>A	ENSP00000306361:p.Gly646Cys						p.G646C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			6	2014	-	all_hematologic(180;0.215)	Renal(120;0.0458)	646			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1936G>T	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140787	0.77775	.	.	ENSG00000171560	ENST00000302053	D	0.99051	-5.37	5.46	5.46	0.80206	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.044035	0.85682	D	0.000000	D	0.99582	0.9849	H	0.98238	4.18	0.80722	D	1	D	0.56287	0.975	D	0.63283	0.913	D	0.97782	1.0233	10	0.87932	D	0	.	19.3153	0.94211	0.0:1.0:0.0:0.0	.	646	P02671	FIBA_HUMAN	C	646	ENSP00000306361:G646C	ENSP00000306361:G646C	G	-	1	0	FGA	155725391	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.456000	0.80751	2.555000	0.86185	0.650000	0.86243	GGC		0.373	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		13	34	1	0	5.50884e-06	1	5.68099e-06	13	34				
RNF17	56163	broad.mit.edu	37	13	25399793	25399793	+	Missense_Mutation	SNP	A	A	G	rs368259164		TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr13:25399793A>G	ENST00000255324.5	+	16	2180	c.2128A>G	c.(2128-2130)Atc>Gtc	p.I710V	RNF17_ENST00000381921.1_Missense_Mutation_p.I710V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	710					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATTAAAGACAATCGAGGAATT	0.333													A|||	1	0.000199681	0.0	0.0	5008	,	,		16546	0.0		0.0	False		,,,				2504	0.001					ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(2128-2130)Atc>Gtc		ring finger protein 17		A	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	68.0	73.0	71.0		2128,2128	3.5	0.8	13		71	0,8600		0,0,4300	no	missense,missense	RNF17	NM_001184993.1,NM_031277.2	29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	710/1620,710/1624	25399793	1,13005	2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25399793A>G	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2128A>G	13.37:g.25399793A>G	ENSP00000255324:p.Ile710Val					RNF17_ENST00000381921.1_Missense_Mutation_p.I710V	p.I710V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	16	2180	+		Lung SC(185;0.0225)|Breast(139;0.077)	710					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2128A>G	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	3.973	-0.007919	0.07773	2.27E-4	0.0	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.13420	2.59;2.59;2.59	4.69	3.51	0.40186	Maternal tudor protein (1);	0.394595	0.25944	N	0.027298	T	0.12732	0.0309	L	0.60455	1.87	0.80722	D	1	B;B	0.19200	0.012;0.034	B;B	0.16289	0.011;0.015	T	0.07635	-1.0762	10	0.42905	T	0.14	.	5.055	0.14527	0.7188:0.1838:0.0973:0.0	.	710;710	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	V	710;710;569;34	ENSP00000255324:I710V;ENSP00000371346:I710V;ENSP00000388892:I34V	ENSP00000255324:I710V	I	+	1	0	RNF17	24297793	1.000000	0.71417	0.756000	0.31282	0.064000	0.16182	1.560000	0.36331	0.757000	0.33036	0.402000	0.26972	ATC		0.333	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		15	31	0	0	0	1	0	15	31				
OR52E4	390081	broad.mit.edu	37	11	5906021	5906021	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr11:5906021C>T	ENST00000316987.2	+	1	521	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R167G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCATTCTGCGTCTGCCATT	0.453																																						ENST00000316987.2																			1	Substitution - Missense(1)	p.R167G(1)	lung(1)	autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(499-501)Cgt>Tgt		olfactory receptor, family 52, subfamily E, member 4							154.0	140.0	145.0					11																	5906021		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906021C>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.499C>T	11.37:g.5906021C>T	ENSP00000321426:p.Arg167Cys						p.R167C	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	521	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	167					Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.499C>T	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661888	0.47572	.	.	ENSG00000180974	ENST00000316987	T	0.00188	8.59	5.15	0.874	0.19124	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000210	T	0.00468	0.0015	M	0.86953	2.85	0.09310	N	0.999999	D	0.69078	0.997	D	0.66716	0.946	T	0.44817	-0.9303	10	0.87932	D	0	.	5.7145	0.17952	0.4898:0.3415:0.0:0.1687	.	167	Q8NGH9	O52E4_HUMAN	C	167	ENSP00000321426:R167C	ENSP00000321426:R167C	R	+	1	0	OR52E4	5862597	0.000000	0.05858	0.016000	0.15963	0.913000	0.54294	-0.034000	0.12225	-0.017000	0.14103	0.643000	0.83706	CGT		0.453	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		17	56	0	0	0	1	0	17	56				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																						ENST00000306084.6																			4	Substitution - Missense(4)	p.K140E(2)|p.K73E(2)	urinary_tract(2)|lung(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(418-420)Aaa>Gaa		thioredoxin domain containing 2 (spermatozoa)							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	p.K140E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	617	+			140			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			5	122	0	0	0	1	0	5	122				
FLNA	2316	broad.mit.edu	37	X	153585626	153585626	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:153585626G>T	ENST00000369850.3	-	30	5198	c.4962C>A	c.(4960-4962)caC>caA	p.H1654Q	FLNA_ENST00000360319.4_Intron|FLNA_ENST00000422373.1_Intron|FLNA_ENST00000369856.3_Intron|FLNA_ENST00000344736.4_Intron	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1654					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACCTAGCCCGTGACCTCCGA	0.637																																						ENST00000369850.3																			0				breast(6)	6						c.(4960-4962)caC>caA		filamin A, alpha							65.0	62.0	63.0					X																	153585626		1567	3582	5149	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153585626G>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4962C>A	X.37:g.153585626G>T	ENSP00000358866:p.His1654Gln					FLNA_ENST00000344736.4_Intron|FLNA_ENST00000369856.3_Intron|FLNA_ENST00000422373.1_Intron|FLNA_ENST00000360319.4_Intron	p.H1654Q	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN			30	5198	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1654					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.4962C>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239440	0.58995	.	.	ENSG00000196924	ENST00000369852;ENST00000369850	D	0.85258	-1.96	5.47	5.47	0.80525	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.87406	0.6169	L	0.43152	1.355	0.80722	D	1	D	0.63046	0.992	D	0.68765	0.96	D	0.84623	0.0685	10	0.24483	T	0.36	.	11.2512	0.49026	0.0901:0.0:0.9099:0.0	.	1654	P21333	FLNA_HUMAN	Q	1627;1654	ENSP00000358866:H1654Q	ENSP00000358866:H1654Q	H	-	3	2	FLNA	153238820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.102000	0.50291	2.294000	0.77228	0.529000	0.55759	CAC		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			5	24	1	0	0.000602214	1	0.000602214	5	24				
OTOS	150677	broad.mit.edu	37	2	241078762	241078762	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:241078762G>A	ENST00000391989.2	-	5	325	c.95C>T	c.(94-96)gCg>gTg	p.A32V	OTOS_ENST00000319460.1_Missense_Mutation_p.A32V|MYEOV2_ENST00000307266.3_5'Flank			Q8NHW6	OTOSP_HUMAN	otospiralin	32					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CGGCAGCTCCGCGTAAGGGTC	0.602																																						ENST00000391989.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(94-96)gCg>gTg		otospiralin							55.0	59.0	58.0					2																	241078762		2203	4300	6503	SO:0001583	missense	150677					extracellular region		g.chr2:241078762G>A		CCDS2533.1	2q37.3	2008-02-05			ENSG00000178602	ENSG00000178602			22644	protein-coding gene	gene with protein product		607877				12687421	Standard	NM_148961		Approved	OTOSP	uc002vyv.3	Q8NHW6	OTTHUMG00000133351	ENST00000391989.2:c.95C>T	2.37:g.241078762G>A	ENSP00000375849:p.Ala32Val					OTOS_ENST00000319460.1_Missense_Mutation_p.A32V	p.A32V			Q8NHW6	OTOSP_HUMAN		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	5	325	-		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)	32					Q53SW6	Missense_Mutation	SNP	ENST00000391989.2	37	c.95C>T	CCDS2533.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960556	0.34565	.	.	ENSG00000178602	ENST00000391989;ENST00000319460	T;T	0.46819	0.86;0.86	3.76	3.76	0.43208	.	0.374328	0.28760	N	0.014240	T	0.26048	0.0635	.	.	.	0.25724	N	0.985348	P	0.39022	0.655	B	0.25759	0.063	T	0.13388	-1.0511	9	0.30854	T	0.27	-11.8738	9.0133	0.36155	0.0:0.0:0.7793:0.2207	.	32	Q8NHW6	OTOSP_HUMAN	V	32	ENSP00000375849:A32V;ENSP00000322486:A32V	ENSP00000322486:A32V	A	-	2	0	OTOS	240727435	0.961000	0.32948	0.152000	0.22495	0.631000	0.37964	3.013000	0.49582	1.843000	0.53566	0.205000	0.17691	GCG		0.602	OTOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257181.3	NM_148961		23	59	0	0	0	1	0	23	59				
COG5	10466	broad.mit.edu	37	7	107204377	107204377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr7:107204377delA	ENST00000347053.3	-	1	108	c.58delT	c.(58-60)tctfs	p.S20fs	DUS4L_ENST00000265720.3_5'Flank|COG5_ENST00000297135.3_Frame_Shift_Del_p.S20fs|DUS4L_ENST00000498786.1_Intron|DUS4L_ENST00000402620.1_5'Flank|COG5_ENST00000393603.2_Frame_Shift_Del_p.S20fs	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	20					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCAGCAGCAGAACGGCTCCGC	0.706																																						ENST00000393603.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(58-60)ctfs		component of oligomeric golgi complex 5							16.0	17.0	16.0					7																	107204377		2200	4296	6496	SO:0001589	frameshift_variant	0				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107204377delA	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.58delT	7.37:g.107204377delA	ENSP00000334703:p.Ser20fs					COG5_ENST00000347053.3_Frame_Shift_Del_p.S20fs|COG5_ENST00000297135.3_Frame_Shift_Del_p.S20fs|DUS4L_ENST00000498786.1_Intron	p.S20fs	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			1	329	-			20					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Frame_Shift_Del	DEL	ENST00000347053.3	37	c.58delT	CCDS5743.1																																																																																				0.706	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			8	14						8	14	---	---	---	---
RP1-30E17.2	0	broad.mit.edu	37	X	127575151	127575151	+	lincRNA	DEL	G	G	-			TCGA-TM-A7CF-02A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21bf981d-32c6-4973-9c13-124087076e74	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:127575151delG	ENST00000449485.1	-	0	158																											GCTGGGCAGAGGGAAGACAGC	0.572																																						ENST00000449485.1																			0																																																			0							g.chrX:127575151delG																													X.37:g.127575151delG														0	158	-									RNA	DEL	ENST00000449485.1	37																																																																																						0.572	RP1-30E17.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000058198.1			2	4						2	4	---	---	---	---
