#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_ACHILLES_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
MUTYH	4595	broad.mit.edu	37	1	45797139	45797139	+	Missense_Mutation	SNP	G	G	A	rs150792276	byFrequency	TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr1:45797139G>A	ENST00000372098.3	-	13	1400	c.1267C>T	c.(1267-1269)Cgt>Tgt	p.R423C	MUTYH_ENST00000372104.1_Missense_Mutation_p.R398C|MUTYH_ENST00000372110.3_Missense_Mutation_p.R413C|MUTYH_ENST00000354383.6_Missense_Mutation_p.R399C|MUTYH_ENST00000448481.1_Missense_Mutation_p.R409C|MUTYH_ENST00000529984.1_Missense_Mutation_p.R93C|MUTYH_ENST00000355498.2_Missense_Mutation_p.R398C|MUTYH_ENST00000528013.2_Missense_Mutation_p.R412C|MUTYH_ENST00000488731.2_Missense_Mutation_p.R93C|MUTYH_ENST00000528332.2_Missense_Mutation_p.R107C|MUTYH_ENST00000372100.5_Missense_Mutation_p.R409C|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000450313.1_Missense_Mutation_p.R426C|MUTYH_ENST00000372115.3_Missense_Mutation_p.R412C|MUTYH_ENST00000456914.2_Missense_Mutation_p.R398C			Q9UIF7	MUTYH_HUMAN	mutY homolog	423	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCAGCCCAACGCTGTAGTTCC	0.622			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																														uc001cnm.2		NA	yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0					0	GRCh37	CM053999	MUTYH	M	rs150792276	c.(1267-1269)CGT>TGT	BER_DNA_glycosylases	mutY homolog isoform 1		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	36.0	38.0	38.0		1234,1195,1192,1192,1276,1267	1.8	0.5	1	dbSNP_134	38	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense,missense,missense,missense,missense	MUTYH	NM_001048171.1,NM_001048172.1,NM_001048173.1,NM_001048174.1,NM_001128425.1,NM_012222.2	180,180,180,180,180,180	0,9,6494	AA,AG,GG		0.093,0.0227,0.0692	benign,benign,benign,benign,benign,benign	412/536,399/523,398/522,398/522,426/550,423/547	45797139	9,12997	2203	4300	6503	SO:0001583	missense	4595	MUTYH-associated_polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45797139G>A	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1267C>T	1.37:g.45797139G>A	ENSP00000361170:p.Arg423Cys					MUTYH_uc009vxn.2_Missense_Mutation_p.R248C|MUTYH_uc001cnf.2_Missense_Mutation_p.R398C|MUTYH_uc009vxo.2_Missense_Mutation_p.R398C|MUTYH_uc001cng.2_Missense_Mutation_p.R409C|MUTYH_uc001cnj.2_Missense_Mutation_p.R306C|MUTYH_uc001cni.2_Missense_Mutation_p.R398C|MUTYH_uc001cnh.2_Missense_Mutation_p.R399C|MUTYH_uc001cno.2_Missense_Mutation_p.R306C|MUTYH_uc001cnk.2_Missense_Mutation_p.R283C|MUTYH_uc010oll.1_Missense_Mutation_p.R107C|MUTYH_uc001cnl.2_Missense_Mutation_p.R412C|MUTYH_uc009vxp.2_Missense_Mutation_p.R426C|MUTYH_uc001cnn.2_Missense_Mutation_p.R413C	p.R423C	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN			13	1483	-	Acute lymphoblastic leukemia(166;0.155)		423			Nudix hydrolase.		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	c.1267C>T	CCDS520.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274957	0.23307	2.27E-4	9.3E-4	ENSG00000132781	ENST00000529984;ENST00000528332;ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000488731;ENST00000450313;ENST00000372100	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.4	1.82	0.25136	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	1.360830	0.04136	N	0.318745	D	0.89577	0.6755	L	0.41492	1.28	0.24856	N	0.992374	D;B;B;B;B;B;B;B	0.65815	0.995;0.0;0.001;0.012;0.001;0.007;0.004;0.001	P;B;B;B;B;B;B;B	0.57776	0.827;0.003;0.002;0.024;0.002;0.011;0.004;0.004	T	0.75747	-0.3209	10	0.52906	T	0.07	0.6656	4.8673	0.13615	0.0:0.1897:0.3499:0.4603	.	107;426;423;413;423;412;306;399	B4DEX2;E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.;.;.;.;MUTYH_HUMAN;.;.;.	C	93;107;398;409;398;399;398;423;413;412;93;426;409	ENSP00000437093:R93C;ENSP00000433076:R107C;ENSP00000361176:R398C;ENSP00000409718:R409C;ENSP00000407590:R398C;ENSP00000346354:R399C;ENSP00000347685:R398C;ENSP00000361170:R423C;ENSP00000361182:R413C;ENSP00000361187:R412C;ENSP00000432330:R93C;ENSP00000408176:R426C;ENSP00000361172:R409C	ENSP00000346354:R399C	R	-	1	0	MUTYH	45569726	0.278000	0.24230	0.451000	0.26982	0.877000	0.50540	0.664000	0.25068	0.351000	0.24027	-0.262000	0.10625	CGT		0.622	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		5	20	0	0	0	0.000602214	0	5	20				
LRRC8D	55144	broad.mit.edu	37	1	90399791	90399791	+	Silent	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr1:90399791C>T	ENST00000337338.5	+	3	1571	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	LRRC8D_ENST00000394593.3_Silent_p.F388F	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	388					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TCTGGTTATTCAGGATACCTT	0.368																																							uc001dnm.2		NA																	0				ovary(2)	2						c.(1162-1164)TTC>TTT		leucine rich repeat containing 8 family, member							110.0	108.0	109.0					1																	90399791		2203	4300	6503	SO:0001819	synonymous_variant	55144					integral to membrane	protein binding	g.chr1:90399791C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1164C>T	1.37:g.90399791C>T						LRRC8D_uc001dnn.2_Silent_p.F388F	p.F388F	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	1589	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	388					D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	c.1164C>T	CCDS726.1																																																																																				0.368	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		22	99	0	0	0	0.00188189	0	22	99				
CHIA	27159	broad.mit.edu	37	1	111861206	111861206	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr1:111861206G>A	ENST00000369740.1	+	9	924	c.821G>A	c.(820-822)aGc>aAc	p.S274N	CHIA_ENST00000343320.6_Missense_Mutation_p.S274N|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000483391.1_Missense_Mutation_p.S113N|CHIA_ENST00000353665.6_Missense_Mutation_p.S113N|CHIA_ENST00000451398.2_Missense_Mutation_p.S113N|CHIA_ENST00000430615.1_Missense_Mutation_p.S166N	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	274					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TTCATCCTGAGCAACCCCTCC	0.527																																							uc001eas.2		NA																	0				ovary(1)	1						c.(820-822)AGC>AAC		acidic chitinase isoform c							163.0	152.0	156.0					1																	111861206		2203	4300	6503	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111861206G>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.821G>A	1.37:g.111861206G>A	ENSP00000358755:p.Ser274Asn					CHIA_uc001ear.2_Missense_Mutation_p.S166N|CHIA_uc001eaq.2_Missense_Mutation_p.S166N|CHIA_uc009wgc.2_Missense_Mutation_p.S166N|CHIA_uc001eat.2_Missense_Mutation_p.S113N|CHIA_uc001eav.2_Missense_Mutation_p.S113N|CHIA_uc001eau.2_Missense_Mutation_p.S113N|CHIA_uc009wgd.2_Missense_Mutation_p.S113N	p.S274N	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	9	924	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	274					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.821G>A	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874645	0.33069	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.05717	3.4;3.4;3.4;3.4;3.4;3.4;3.4;3.4	4.84	4.84	0.62591	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.676693	0.13454	U	0.386664	T	0.06690	0.0171	M	0.71581	2.175	0.31650	N	0.646975	B	0.25390	0.125	B	0.33799	0.17	T	0.04242	-1.0966	10	0.52906	T	0.07	-9.8213	15.8109	0.78565	0.0:0.0:1.0:0.0	.	274	Q9BZP6	CHIA_HUMAN	N	218;113;274;274;113;113;113;166	ENSP00000387671:S218N;ENSP00000436946:S113N;ENSP00000358755:S274N;ENSP00000341828:S274N;ENSP00000390476:S113N;ENSP00000338970:S113N;ENSP00000433309:S113N;ENSP00000391132:S166N	ENSP00000341828:S274N	S	+	2	0	CHIA	111662729	0.958000	0.32768	0.937000	0.37676	0.074000	0.17049	3.332000	0.52083	2.396000	0.81511	0.563000	0.77884	AGC		0.527	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			29	74	0	0	0	0.00178596	0	29	74				
DDX59	83479	broad.mit.edu	37	1	200635721	200635721	+	Missense_Mutation	SNP	C	C	G	rs150913822	byFrequency	TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr1:200635721C>G	ENST00000331314.6	-	2	361	c.148G>C	c.(148-150)Gcc>Ccc	p.A50P	RP11-92G12.3_ENST00000568695.1_lincRNA|DDX59_ENST00000447706.2_Missense_Mutation_p.A50P|DDX59_ENST00000367348.3_Missense_Mutation_p.A50P	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	50						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TCTATTGTGGCTGCTTCTGTA	0.507													C|||	9	0.00179712	0.0	0.0058	5008	,	,		18488	0.0		0.005	False		,,,				2504	0.0						uc009wzk.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(148-150)GCC>CCC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59		C	PRO/ALA	4,4402	6.2+/-15.9	0,4,2199	161.0	145.0	150.0		148	0.4	0.0	1	dbSNP_134	150	44,8556	29.0+/-79.6	0,44,4256	yes	missense	DDX59	NM_001031725.4	27	0,48,6455	GG,GC,CC		0.5116,0.0908,0.3691	benign	50/620	200635721	48,12958	2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200635721C>G	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.148G>C	1.37:g.200635721C>G	ENSP00000330460:p.Ala50Pro					DDX59_uc010ppl.1_Missense_Mutation_p.A50P	p.A50P	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN			2	391	-			50					Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.148G>C	CCDS30964.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	11.82	1.753743	0.31046	9.08E-4	0.005116	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314;ENST00000436897	T;T;T;T	0.45668	1.47;1.47;1.84;0.89	5.06	0.396	0.16309	.	1.044700	0.07459	N	0.900248	T	0.17662	0.0424	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22417	-1.0217	10	0.33940	T	0.23	-4.8625	1.601	0.02674	0.1631:0.4413:0.1602:0.2354	.	50;50	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	P	50	ENSP00000394367:A50P;ENSP00000356317:A50P;ENSP00000330460:A50P;ENSP00000391312:A50P	ENSP00000330460:A50P	A	-	1	0	DDX59	198902344	0.005000	0.15991	0.001000	0.08648	0.167000	0.22549	0.237000	0.17985	0.523000	0.28482	0.555000	0.69702	GCC		0.507	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		4	88	0	0	0	0.00024832	0	4	88				
SORCS1	114815	broad.mit.edu	37	10	108412182	108412182	+	Silent	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr10:108412182C>T	ENST00000263054.6	-	18	2440	c.2433G>A	c.(2431-2433)gcG>gcA	p.A811A	SORCS1_ENST00000369698.1_Silent_p.A346A|SORCS1_ENST00000344440.6_Silent_p.A811A	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	811	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTCCTTGTTCCGCTGTCAGCT	0.522																																							uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2431-2433)GCG>GCA		SORCS receptor 1 isoform a							129.0	114.0	119.0					10																	108412182		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108412182C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2433G>A	10.37:g.108412182C>T						SORCS1_uc001kyl.2_Silent_p.A811A|SORCS1_uc009xxs.2_Silent_p.A811A|SORCS1_uc001kyn.1_Silent_p.A811A|SORCS1_uc001kyo.2_Silent_p.A811A	p.A811A	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	18	2441	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	811			Lumenal (Potential).|PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.2433G>A	CCDS7559.1																																																																																				0.522	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		24	26	0	0	0	0.00106085	0	24	26				
SLC6A5	9152	broad.mit.edu	37	11	20658729	20658729	+	Silent	SNP	C	C	T	rs372092287		TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr11:20658729C>T	ENST00000525748.1	+	12	2022	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	583					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTGCCACCATCGAGACCATAG	0.498																																							uc001mqd.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(1747-1749)ATC>ATT		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						202.0	175.0	184.0					11																	20658729		2203	4300	6503	SO:0001819	synonymous_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20658729C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1749C>T	11.37:g.20658729C>T						SLC6A5_uc009yic.2_Silent_p.I348I	p.I583I	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			12	2022	+			583					O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	c.1749C>T	CCDS7854.1																																																																																				0.498	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		19	101	0	0	0	0.000295444	0	19	101				
GPR19	2842	broad.mit.edu	37	12	12814367	12814367	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr12:12814367C>A	ENST00000540510.1	-	2	1208	c.1016G>T	c.(1015-1017)aGa>aTa	p.R339I	GPR19_ENST00000332427.2_Missense_Mutation_p.R339I			P46093	GPR4_HUMAN	G protein-coupled receptor 19	295					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		TTTCATCCCTCTCCGAAAATT	0.368																																							uc001rar.3		NA																	0				ovary(1)	1						c.(1015-1017)AGA>ATA		G protein-coupled receptor 19							116.0	112.0	113.0					12																	12814367		2203	4300	6503	SO:0001583	missense	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12814367C>A		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.1016G>T	12.37:g.12814367C>A	ENSP00000441832:p.Arg339Ile					GPR19_uc001raq.2_Missense_Mutation_p.R339I	p.R339I	NM_006143	NP_006134	Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	2	1209	-		Prostate(47;0.0802)	339			Cytoplasmic (Potential).		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000540510.1	37	c.1016G>T	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643934	0.87859	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	T;T	0.39997	1.05;1.05	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.57923	-0.7727	10	0.72032	D	0.01	-17.1114	19.3198	0.94233	0.0:1.0:0.0:0.0	.	339	Q15760	GPR19_HUMAN	I	339	ENSP00000441832:R339I;ENSP00000333744:R339I	ENSP00000333744:R339I	R	-	2	0	GPR19	12705634	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.071000	0.71229	2.662000	0.90505	0.655000	0.94253	AGA		0.368	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		52	52	1	0	4.0306e-16	0.000781405	3.3916e-15	52	52				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(34-36)GGT>GTT		c-K-ras2 protein isoform a precursor							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA	p.G12V	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	9	1	0	1.49906e-05	0.000219431	0.000114928	11	9				
TSHR	7253	broad.mit.edu	37	14	81609917	81609917	+	Silent	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr14:81609917C>T	ENST00000541158.2	+	11	1837	c.1515C>T	c.(1513-1515)agC>agT	p.S505S	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.S505S			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	505			S -> N (in HTNA; found in toxic thyroid nodules). {ECO:0000269|PubMed:11434721, ECO:0000269|PubMed:15163335, ECO:0000269|PubMed:9360555}.|S -> R (in HTNA; gain of function). {ECO:0000269|PubMed:8636266}.		adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCTTTGCAAGCGAGTTATCGG	0.567			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																uc001xvd.1		NA	yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		0		p.S505N(3)		thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299	GRCh37	CM961395	TSHR	M		c.(1513-1515)AGC>AGT		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)						556.0	395.0	449.0					14																	81609917		2203	4300	6503	SO:0001819	synonymous_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609917C>T	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1515C>T	14.37:g.81609917C>T							p.S505S	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	10	1671	+			505		S -> R (in HTNA; gain of function).|S -> N (in HTNA; found in toxic thyroid nodules).	Helical; Name=3; (Potential).		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	c.1515C>T	CCDS9872.1																																																																																				0.567	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		11	33	0	0	0	0.00136819	0	11	33				
ASB2	51676	broad.mit.edu	37	14	94405662	94405662	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr14:94405662T>C	ENST00000315988.4	-	6	1753	c.1265A>G	c.(1264-1266)tAt>tGt	p.Y422C	ASB2_ENST00000556337.1_5'Flank|RP11-131H24.4_ENST00000557646.1_5'Flank|ASB2_ENST00000555019.1_Missense_Mutation_p.Y470C	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	422					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CGTGGCGATATAGGCGTCGAT	0.657																																							uc001ycc.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1264-1266)TAT>TGT		ankyrin repeat and SOCS box-containing protein							68.0	64.0	65.0					14																	94405662		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94405662T>C	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1265A>G	14.37:g.94405662T>C	ENSP00000320675:p.Tyr422Cys					ASB2_uc001ycb.1_Missense_Mutation_p.Y116C|ASB2_uc001ycd.2_Missense_Mutation_p.Y470C|ASB2_uc001yce.1_Missense_Mutation_p.Y368C	p.Y422C	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	6	1754	-		all_cancers(154;0.13)	422					B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.1265A>G	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.401765	0.42613	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;T;T	0.64260	-0.09;-0.09;-0.09	4.75	3.6	0.41247	Ankyrin repeat-containing domain (4);	0.409799	0.27866	N	0.017539	T	0.50820	0.1638	N	0.02213	-0.635	0.36383	D	0.862048	B;D;B	0.69078	0.004;0.997;0.004	B;D;B	0.63597	0.006;0.916;0.006	T	0.60850	-0.7181	10	0.38643	T	0.18	.	10.1104	0.42559	0.0:0.0797:0.0:0.9203	.	438;470;422	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	C	470;438;422;368;368	ENSP00000451575:Y470C;ENSP00000320675:Y422C;ENSP00000450940:Y368C	ENSP00000320675:Y422C	Y	-	2	0	ASB2	93475415	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.172000	0.42463	0.682000	0.31407	0.379000	0.24179	TAT		0.657	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			11	31	0	0	0	0.00185496	0	11	31				
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478																																							uc010uaf.1		NA																	0					NA						c.(286-288)CTT>CTC		SubName: Full=Putative uncharacterized protein ENSP00000383535; Flags: Fragment;																																						0							g.chr15:28599954A>G																													15.37:g.28599954A>G							p.L96L							4	306	-									Silent	SNP	ENST00000568624.1	37	c.288T>C																																																																																					0.478	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			3	51	0	0	0	6.4e-05	0	3	51				
STRA6	64220	broad.mit.edu	37	15	74481499	74481499	+	Silent	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr15:74481499C>T	ENST00000323940.5	-	12	1292	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q	STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000574278.1_Silent_p.Q364Q|STRA6_ENST00000423167.2_Silent_p.Q340Q|STRA6_ENST00000563965.1_Silent_p.Q388Q|STRA6_ENST00000395105.4_Silent_p.Q349Q|STRA6_ENST00000535552.1_Silent_p.Q386Q|STRA6_ENST00000416286.3_Silent_p.Q341Q|STRA6_ENST00000449139.2_Silent_p.Q349Q	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	349					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CCACCACCTCCTGCTTGTCCT	0.632																																							uc002axk.2		NA																	0				central_nervous_system(1)	1						c.(1045-1047)CAG>CAA		stimulated by retinoic acid gene 6 homolog							63.0	49.0	54.0					15																	74481499		2198	4297	6495	SO:0001819	synonymous_variant	64220				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity	g.chr15:74481499C>T	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1047G>A	15.37:g.74481499C>T						STRA6_uc002axi.2_Silent_p.Q158Q|STRA6_uc010ulh.1_Silent_p.Q387Q|STRA6_uc002axj.2_Silent_p.Q388Q|STRA6_uc010bji.2_Silent_p.Q349Q|STRA6_uc002axl.2_Silent_p.Q281Q|STRA6_uc002axm.2_Silent_p.Q349Q|STRA6_uc002axn.2_Silent_p.Q340Q|STRA6_uc010uli.1_Silent_p.Q386Q|STRA6_uc010bjj.1_RNA	p.Q349Q	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN			12	1229	-			349			Cytoplasmic (Potential).		A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Silent	SNP	ENST00000323940.5	37	c.1047G>A	CCDS10261.1																																																																																				0.632	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			5	22	0	0	0	0.00116845	0	5	22				
ADAMTS7	11173	broad.mit.edu	37	15	79064048	79064048	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr15:79064048C>A	ENST00000388820.4	-	15	2465	c.2255G>T	c.(2254-2256)gGc>gTc	p.G752V	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	752	Spacer.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GATGGTCCAGCCACCATTGAG	0.647																																							uc002bej.3		NA																	0					0						c.(2254-2256)GGC>GTC		ADAM metallopeptidase with thrombospondin type 1							76.0	56.0	63.0					15																	79064048		2196	4290	6486	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79064048C>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2255G>T	15.37:g.79064048C>A	ENSP00000373472:p.Gly752Val					ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.G752V	p.G752V	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			15	2466	-			752			Spacer.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2255G>T	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564553	0.45694	.	.	ENSG00000136378	ENST00000388820	T	0.52057	0.68	4.09	2.19	0.27852	ADAM-TS Spacer 1 (1);	0.563564	0.18126	N	0.150881	T	0.64605	0.2613	M	0.84846	2.72	0.58432	D	0.999991	D;D	0.67145	0.958;0.996	P;D	0.70935	0.77;0.971	T	0.62205	-0.6903	10	0.72032	D	0.01	.	4.1477	0.10224	0.184:0.6149:0.0:0.2011	.	752;752	A8MQ00;Q9UKP4	.;ATS7_HUMAN	V	752	ENSP00000373472:G752V	ENSP00000373472:G752V	G	-	2	0	ADAMTS7	76851103	1.000000	0.71417	0.673000	0.29887	0.516000	0.34256	2.990000	0.49401	0.387000	0.25024	0.440000	0.28878	GGC		0.647	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		29	20	1	0	2.61193e-14	0.00178596	2.14552e-13	29	20				
PRKCB	5579	broad.mit.edu	37	16	24166139	24166139	+	Silent	SNP	G	G	A	rs141827066	byFrequency	TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr16:24166139G>A	ENST00000321728.7	+	10	1375	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	PRKCB_ENST00000303531.7_Silent_p.P400P	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.P400P(3)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CTGGGAAGCCGCCCTTCCTGA	0.567																																							uc002dmd.2		NA																	3	Substitution - coding silent(3)	p.P400P(1)	cervix(2)|central_nervous_system(1)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1198-1200)CCG>CCA		protein kinase C, beta isoform 1	Vitamin E(DB00163)						116.0	86.0	96.0					16																	24166139		2197	4300	6497	SO:0001819	synonymous_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24166139G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1200G>A	16.37:g.24166139G>A						PRKCB_uc002dme.2_Silent_p.P400P	p.P400P	NM_212535	NP_997700	P05771	KPCB_HUMAN			10	1397	+			400			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	c.1200G>A	CCDS10618.1																																																																																				0.567	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		4	10	0	0	0	0.000602214	0	4	10				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	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_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	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)	Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(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)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)CGT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_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|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|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 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_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1011	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|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 -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (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		5	12	0	0	0	0.00116845	0	5	12				
L3MBTL4	91133	broad.mit.edu	37	18	6241405	6241405	+	Silent	SNP	G	G	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr18:6241405G>A	ENST00000284898.6	-	8	704	c.504C>T	c.(502-504)gcC>gcT	p.A168A	L3MBTL4_ENST00000400104.3_Silent_p.A168A|L3MBTL4_ENST00000535782.1_5'Flank|L3MBTL4_ENST00000317931.7_Silent_p.A168A|L3MBTL4_ENST00000400105.2_Silent_p.A168A	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	168					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GCAATTTGCAGGCCTTCAAGT	0.313																																					Esophageal Squamous(41;748 902 17366 28959 43175)	Esophageal Squamous(41;748 902 17366 28959 43175)	uc002kmz.3		NA																	0				skin(2)|pancreas(1)	3						c.(502-504)GCC>GCT		l(3)mbt-like 4							86.0	99.0	95.0					18																	6241405		2202	4297	6499	SO:0001819	synonymous_variant	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6241405G>A	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.504C>T	18.37:g.6241405G>A						L3MBTL4_uc010dkt.2_Silent_p.A168A|L3MBTL4_uc002kmy.3_Silent_p.A6A	p.A168A	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN			8	664	-		Colorectal(10;0.0249)	168			MBT 2.		A8MTL8|Q8IXS3	Silent	SNP	ENST00000284898.6	37	c.504C>T	CCDS11839.2																																																																																				0.313	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		30	116	0	0	0	0.001512	0	30	116				
SYT3	84258	broad.mit.edu	37	19	51133107	51133107	+	Silent	SNP	G	G	A	rs544146780		TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr19:51133107G>A	ENST00000338916.4	-	3	1629	c.996C>T	c.(994-996)aaC>aaT	p.N332N	SYT3_ENST00000544769.1_Silent_p.N332N|SYT3_ENST00000593901.1_Silent_p.N332N|SYT3_ENST00000600079.1_Silent_p.N332N	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	332	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CTGAGAAGCCGTTGGAGTCCT	0.617																																							uc002pst.2		NA																	0				ovary(2)|breast(1)	3						c.(994-996)AAC>AAT		synaptotagmin III							91.0	89.0	90.0					19																	51133107		2203	4300	6503	SO:0001819	synonymous_variant	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51133107G>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.996C>T	19.37:g.51133107G>A						SYT3_uc002psv.2_Silent_p.N332N|SYT3_uc010ycd.1_Silent_p.N332N	p.N332N	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	3	1630	-		all_neural(266;0.131)	332			C2 1.|Cytoplasmic (Potential).		Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	c.996C>T	CCDS12798.1																																																																																				0.617	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		18	60	0	0	0	0.000375601	0	18	60				
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371100.4_Missense_Mutation_p.R844H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	Colon(117;935 1597 6045 8307 46442)	uc002xzw.2		NA		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		88	Substitution - Missense(88)	p.R201H(37)|p.R201L(1)|p.R844H(1)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(2530-2532)CGT>CAT		GNAS complex locus XLas							80.0	78.0	79.0					20																	57484421		2203	4300	6503	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484421G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.602G>A	20.37:g.57484421G>A	ENSP00000360126:p.Arg201His	TSP Lung(22;0.16)				GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R142H|GNAS_uc002xzx.2_Missense_Mutation_p.R142H|GNAS_uc010gjr.2_Missense_Mutation_p.R92H|GNAS_uc002xzy.2_Missense_Mutation_p.R127H|GNAS_uc002yaa.2_Missense_Mutation_p.R187H|GNAS_uc010zzt.1_Missense_Mutation_p.R202H|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R92H|GNAS_uc002yae.2_Missense_Mutation_p.R126H	p.R844H	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	2816	+	all_lung(29;0.0104)		201		R -> L (in non-MAS endocrine tumors).|R -> S (in AIMAH, pituitary tumor and polyostotic fibrous dysplasia).|R -> H (in MAS, somatotrophinoma and AIMAH).|R -> G (in MAS).	GTP (By similarity).		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2531G>A	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT		0.423	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		8	37	0	0	0	0.000274275	0	8	37				
PKDREJ	10343	broad.mit.edu	37	22	46655314	46655314	+	Silent	SNP	G	G	A	rs150338973		TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr22:46655314G>A	ENST00000253255.5	-	1	3905	c.3906C>T	c.(3904-3906)aaC>aaT	p.N1302N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1302	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCGACCCTCGTTGTTGTGCC	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21037	0.0		0.0	False		,,,				2504	0.0						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(3904-3906)AAC>AAT		receptor for egg jelly-like protein precursor		G		8,4398	14.3+/-33.2	0,8,2195	125.0	116.0	119.0		3906	-7.6	0.6	22	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	PKDREJ	NM_006071.1		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		1302/2254	46655314	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655314G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3906C>T	22.37:g.46655314G>A							p.N1302N	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3906	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1302			Cytoplasmic (Potential).|PLAT.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.3906C>T	CCDS14073.1																																																																																				0.453	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		23	59	0	0	0	0.00047179	0	23	59				
GALNT15	117248	broad.mit.edu	37	3	16237394	16237394	+	Silent	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr3:16237394C>T	ENST00000339732.5	+	2	1170	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	GALNT15_ENST00000437509.1_Silent_p.L223L	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	223	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CAGGGCCTTCCTGAAGGAGAT	0.617																																							uc003car.3		NA																	0				breast(1)	1						c.(667-669)CTG>TTG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							81.0	61.0	68.0					3																	16237394		2203	4300	6503	SO:0001819	synonymous_variant	117248					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr3:16237394C>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.667C>T	3.37:g.16237394C>T						GALNTL2_uc003caq.3_5'UTR	p.L223L	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN			2	1142	+			223			Lumenal (Potential).|Catalytic subdomain A.		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	c.667C>T	CCDS33711.1																																																																																				0.617	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		6	21	0	0	0	0.000274275	0	6	21				
COL7A1	1294	broad.mit.edu	37	3	48623857	48623857	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr3:48623857C>T	ENST00000328333.8	-	26	3565	c.3458G>A	c.(3457-3459)cGc>cAc	p.R1153H	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1153H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1153	Nonhelical region (NC1).|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGCTGGCGGCGCCCAGGAGC	0.587																																							uc003ctz.2		NA																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(3457-3459)CGC>CAC		alpha 1 type VII collagen precursor							142.0	148.0	146.0					3																	48623857		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48623857C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3458G>A	3.37:g.48623857C>T	ENSP00000332371:p.Arg1153His						p.R1153H	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	26	3459	-			1153			Nonhelical region (NC1).|VWFA 2.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.3458G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402077	0.42613	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.84223	-1.82;-1.82	4.88	4.88	0.63580	von Willebrand factor, type A (2);	0.000000	0.46442	D	0.000294	D	0.88183	0.6368	L	0.29908	0.895	0.43936	D	0.996597	D	0.89917	1.0	D	0.91635	0.999	D	0.89696	0.3901	10	0.72032	D	0.01	.	16.5785	0.84707	0.0:1.0:0.0:0.0	.	1153	Q02388	CO7A1_HUMAN	H	1153	ENSP00000332371:R1153H;ENSP00000412569:R1153H	ENSP00000332371:R1153H	R	-	2	0	COL7A1	48598861	1.000000	0.71417	0.999000	0.59377	0.842000	0.47809	5.149000	0.64863	2.415000	0.81967	0.561000	0.74099	CGC		0.587	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		26	83	0	0	0	0.00106085	0	26	83				
HYAL2	8692	broad.mit.edu	37	3	50357600	50357600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr3:50357600C>T	ENST00000447092.1	-	1	2613	c.321G>A	c.(319-321)tgG>tgA	p.W107*	HYAL2_ENST00000357750.4_Nonsense_Mutation_p.W107*|TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000395139.3_Nonsense_Mutation_p.W107*|HYAL2_ENST00000442581.1_Nonsense_Mutation_p.W107*			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	107					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TCCGGTGTGCCCAAAGGCTGA	0.572																																							uc003czu.2		NA																	0				ovary(1)	1						c.(319-321)TGG>TGA		hyaluronoglucosaminidase 2 precursor	Hyaluronidase(DB00070)						78.0	69.0	72.0					3																	50357600		2203	4300	6503	SO:0001587	stop_gained	8692					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity	g.chr3:50357600C>T	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.321G>A	3.37:g.50357600C>T	ENSP00000401853:p.Trp107*					HYAL2_uc003czx.2_Nonsense_Mutation_p.W107*|HYAL2_uc003czv.2_Nonsense_Mutation_p.W107*|HYAL2_uc003czw.2_Nonsense_Mutation_p.W107*|HYAL2_uc010hlj.2_Nonsense_Mutation_p.W107*	p.W107*	NM_033158	NP_149348	Q12891	HYAL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	541	-			107					B3KRZ2|O15177|Q9BW29	Nonsense_Mutation	SNP	ENST00000447092.1	37	c.321G>A	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	C	9.297	1.052009	0.19827	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581;ENST00000458018;ENST00000424190	.	.	.	5.81	2.89	0.33648	.	0.882194	0.10335	N	0.687060	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.3427	2.2501	0.04041	0.2756:0.4498:0.1266:0.148	.	.	.	.	X	107	.	ENSP00000350387:W107X	W	-	3	0	HYAL2	50332604	0.000000	0.05858	0.967000	0.41034	0.018000	0.09664	-1.151000	0.03175	0.756000	0.33013	0.557000	0.71058	TGG		0.572	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		16	38	0	0	0	0.000958276	0	16	38				
PCDHGB2	56103	broad.mit.edu	37	5	140741350	140741350	+	Missense_Mutation	SNP	G	G	A	rs375966726		TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr5:140741350G>A	ENST00000522605.1	+	1	1648	c.1648G>A	c.(1648-1650)Gtg>Atg	p.V550M	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	550	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCTGCGCGTGTTAGTGGG	0.687																																							uc003ljs.1		NA																	0					0						c.(1648-1650)GTG>ATG		protocadherin gamma subfamily B, 2 isoform 1							35.0	42.0	40.0					5																	140741350		2107	4239	6346	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741350G>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1648G>A	5.37:g.140741350G>A	ENSP00000429018:p.Val550Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.V550M|PCDHGA5_uc011das.1_5'Flank	p.V550M	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1648	+			550			Extracellular (Potential).|Cadherin 5.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1648G>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	13.49	2.251817	0.39797	.	.	ENSG00000253910	ENST00000522605	T	0.62232	0.04	5.11	5.11	0.69529	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.82770	0.5109	H	0.94808	3.585	0.25402	N	0.988434	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	T	0.76198	-0.3047	9	0.87932	D	0	.	8.678	0.34191	0.0816:0.1539:0.7645:0.0	.	550;550	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	M	550	ENSP00000429018:V550M	ENSP00000429018:V550M	V	+	1	0	PCDHGB2	140721534	0.526000	0.26298	1.000000	0.80357	0.423000	0.31445	0.833000	0.27504	2.528000	0.85240	0.467000	0.42956	GTG		0.687	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		8	34	0	0	0	0.000274275	0	8	34				
MICALL2	79778	broad.mit.edu	37	7	1478552	1478552	+	Silent	SNP	C	C	T	rs372015337		TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr7:1478552C>T	ENST00000297508.7	-	10	2221	c.2046G>A	c.(2044-2046)ccG>ccA	p.P682P	MICALL2_ENST00000405088.4_Silent_p.P470P|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	682	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CAGGGGGCTCCGGCCGAAGCC	0.672																																							uc003skj.3		NA																	0				central_nervous_system(1)	1						c.(2044-2046)CCG>CCA		MICAL-like 2 isoform 1				0,4404		0,0,2202	45.0	47.0	47.0		2046	-0.9	0.0	7		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MICALL2	NM_182924.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		682/905	1478552	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1478552C>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2046G>A	7.37:g.1478552C>T						MICALL2_uc003skh.3_5'UTR|MICALL2_uc003ski.3_Silent_p.P169P	p.P682P	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	10	2193	-		Ovarian(82;0.0253)	682					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	ENST00000297508.7	37	c.2046G>A	CCDS5324.1																																																																																				0.672	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		8	43	0	0	0	0.000157383	0	8	43				
IGF2BP3	10643	broad.mit.edu	37	7	23352016	23352016	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr7:23352016G>T	ENST00000258729.3	-	15	2061	c.1705C>A	c.(1705-1707)Ctg>Atg	p.L569M		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	569					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CCACTTTGCAGAGCCTTCTGT	0.463																																							uc003swg.2		NA																	0				ovary(2)	2						c.(1705-1707)CTG>ATG		insulin-like growth factor 2 mRNA binding							165.0	157.0	160.0					7																	23352016		2203	4300	6503	SO:0001583	missense	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23352016G>T	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.1705C>A	7.37:g.23352016G>T	ENSP00000258729:p.Leu569Met					IGF2BP3_uc003swf.2_Missense_Mutation_p.L188M	p.L569M	NM_006547	NP_006538	O00425	IF2B3_HUMAN			15	1971	-			569					A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	37	c.1705C>A	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352931	0.24512	.	.	ENSG00000136231	ENST00000258729	T	0.15017	2.46	5.93	3.97	0.46021	.	0.494910	0.19048	N	0.124138	T	0.10078	0.0247	N	0.14661	0.345	0.25294	N	0.989339	P	0.34780	0.468	B	0.35971	0.215	T	0.17837	-1.0356	10	0.32370	T	0.25	0.0822	9.5931	0.39559	0.0849:0.3527:0.5624:0.0	.	569	O00425	IF2B3_HUMAN	M	569	ENSP00000258729:L569M	ENSP00000258729:L569M	L	-	1	2	IGF2BP3	23318541	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	3.582000	0.53921	2.805000	0.96524	0.655000	0.94253	CTG		0.463	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		37	123	1	0	4.16155e-14	0.00195071	3.33891e-13	37	123				
AKAP9	10142	broad.mit.edu	37	7	91671477	91671477	+	Missense_Mutation	SNP	C	C	T	rs200044616		TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr7:91671477C>T	ENST00000359028.2	+	20	5296	c.5071C>T	c.(5071-5073)Cgc>Tgc	p.R1691C	AKAP9_ENST00000356239.3_Missense_Mutation_p.R1679C|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1691C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1691					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGTGAGCTGCGCAACAGCAG	0.468			T	BRAF	papillary thyroid																																		uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(5035-5037)CGC>TGC		A-kinase anchor protein 9 isoform 2		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	108.0	103.0	105.0		5035,5035	5.2	1.0	7		105	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	AKAP9	NM_005751.4,NM_147185.2	180,180	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	1679/3908,1679/3900	91671477	3,13003	2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91671477C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5071C>T	7.37:g.91671477C>T	ENSP00000351922:p.Arg1691Cys					AKAP9_uc003ulf.2_Missense_Mutation_p.R1679C|AKAP9_uc003uli.2_Missense_Mutation_p.R1304C	p.R1679C	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		19	5260	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1691					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5035C>T		.	.	.	.	.	.	.	.	.	.	C	14.37	2.514633	0.44763	0.0	3.49E-4	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03607	3.87;3.87;3.87	5.18	5.18	0.71444	.	0.200460	0.25619	N	0.029440	T	0.14700	0.0355	M	0.62723	1.935	0.49389	D	0.999786	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.74674	0.732;0.984;0.862	T	0.00032	-1.2278	10	0.87932	D	0	.	13.127	0.59360	0.1596:0.8404:0.0:0.0	.	1691;1679;1679	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	C	1679;1691;1691;1691	ENSP00000348573:R1679C;ENSP00000351922:R1691C;ENSP00000350813:R1691C	ENSP00000348573:R1679C	R	+	1	0	AKAP9	91509413	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	1.699000	0.37804	2.586000	0.87340	0.655000	0.94253	CGC		0.468	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		23	35	0	0	0	0.000586117	0	23	35				
PTPRN2	5799	broad.mit.edu	37	7	157387931	157387931	+	Splice_Site	SNP	T	T	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr7:157387931T>A	ENST00000389418.4	-	17	2504	c.2495A>T	c.(2494-2496)cAg>cTg	p.Q832L	PTPRN2_ENST00000409483.1_Splice_Site_p.Q794L|PTPRN2_ENST00000389416.4_Splice_Site_p.Q815L|PTPRN2_ENST00000389413.3_Splice_Site_p.Q803L|PTPRN2_ENST00000404321.2_Splice_Site_p.Q855L	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	832	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AATGTTCACCTGCCAAAAGTC	0.483																																							uc003wno.2		NA																	0				ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(2494-2496)CAG>CTG		protein tyrosine phosphatase, receptor type, N							45.0	52.0	49.0					7																	157387931		2203	4300	6503	SO:0001630	splice_region_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157387931T>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2496+1A>T	7.37:g.157387931T>A						PTPRN2_uc003wnp.2_Missense_Mutation_p.Q815L|PTPRN2_uc003wnq.2_Missense_Mutation_p.Q803L|PTPRN2_uc003wnr.2_Missense_Mutation_p.Q794L|PTPRN2_uc011kwa.1_Missense_Mutation_p.Q855L	p.Q832L	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	17	2616	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	832			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.2495A>T	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198372	0.79015	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.51	5.51	0.81932	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	D	0.90208	0.6939	L	0.49640	1.575	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0	D;D;D;D;D	0.87578	0.997;0.998;0.995;0.992;0.997	D	0.91252	0.5030	10	0.87932	D	0	.	15.657	0.77144	0.0:0.0:0.0:1.0	.	855;794;803;815;832	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	L	794;803;815;832;855	ENSP00000387114:Q794L;ENSP00000374064:Q803L;ENSP00000374067:Q815L;ENSP00000374069:Q832L;ENSP00000385464:Q855L	ENSP00000374064:Q803L	Q	-	2	0	PTPRN2	157080692	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	5.607000	0.67648	2.097000	0.63578	0.533000	0.62120	CAG		0.483	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		Missense_Mutation	27	33	0	0	0	0.00178596	0	27	33				
KCNU1	157855	broad.mit.edu	37	8	36780101	36780101	+	Missense_Mutation	SNP	C	C	T	rs199629162	byFrequency	TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr8:36780101C>T	ENST00000399881.3	+	24	2727	c.2690C>T	c.(2689-2691)aCg>aTg	p.T897M		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	897	Segment S10.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCCTTTTCTACGGGCACTGTT	0.493													C|||	2	0.000399361	0.0	0.0	5008	,	,		16797	0.002		0.0	False		,,,				2504	0.0						uc010lvw.2		NA																	0				ovary(1)	1						c.(2689-2691)ACG>ATG		potassium channel, subfamily U, member 1							125.0	120.0	122.0					8																	36780101		1882	4116	5998	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36780101C>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2690C>T	8.37:g.36780101C>T	ENSP00000382770:p.Thr897Met					KCNU1_uc003xjw.2_RNA	p.T897M	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	24	2777	+			897			Segment S10.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.2690C>T	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665812	0.29604	.	.	ENSG00000215262	ENST00000399881	T	0.41758	0.99	5.42	4.55	0.56014	.	0.190873	0.24774	U	0.035702	T	0.33206	0.0855	M	0.63428	1.95	0.80722	D	1	P	0.46912	0.886	B	0.28638	0.092	T	0.34825	-0.9813	10	0.66056	D	0.02	-5.4871	11.1849	0.48650	0.0:0.9143:0.0:0.0857	.	897	A8MYU2	KCNU1_HUMAN	M	897	ENSP00000382770:T897M	ENSP00000382770:T897M	T	+	2	0	KCNU1	36899259	0.000000	0.05858	0.151000	0.22473	0.003000	0.03518	0.742000	0.26216	1.296000	0.44742	-0.136000	0.14681	ACG		0.493	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		15	35	0	0	0	0.000308642	0	15	35				
RUSC2	9853	broad.mit.edu	37	9	35561302	35561302	+	Missense_Mutation	SNP	G	G	A	rs532923022		TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr9:35561302G>A	ENST00000455600.1	+	12	5043	c.4474G>A	c.(4474-4476)Gac>Aac	p.D1492N	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1492	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCGTGGCCCCGACTCTGGCCT	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15218	0.0		0.0	False		,,,				2504	0.0						uc003zww.2		NA																	0				ovary(1)	1						c.(4474-4476)GAC>AAC		RUN and SH3 domain containing 2							48.0	60.0	56.0					9																	35561302		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35561302G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.4474G>A	9.37:g.35561302G>A	ENSP00000393922:p.Asp1492Asn					RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.D1492N	p.D1492N	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		12	4729	+			1492			SH3.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.4474G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904477	0.52333	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.07908	3.15;3.15	5.39	5.39	0.77823	Src homology-3 domain (3);Variant SH3 (1);	0.290535	0.39083	N	0.001463	T	0.03959	0.0111	N	0.04508	-0.205	0.32016	N	0.601444	D	0.53462	0.96	B	0.37888	0.26	T	0.29518	-1.0009	10	0.29301	T	0.29	-24.317	14.1399	0.65313	0.0:0.1501:0.8499:0.0	.	1492	Q8N2Y8	RUSC2_HUMAN	N	1492	ENSP00000355177:D1492N;ENSP00000393922:D1492N	ENSP00000355177:D1492N	D	+	1	0	RUSC2	35551302	0.990000	0.36364	0.996000	0.52242	0.987000	0.75469	2.240000	0.43088	2.679000	0.91253	0.650000	0.86243	GAC		0.647	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		16	22	0	0	0	0.000422831	0	16	22				
SHC3	53358	broad.mit.edu	37	9	91680488	91680488	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr9:91680488G>A	ENST00000375835.4	-	6	1097	c.791C>T	c.(790-792)aCt>aTt	p.T264I	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	264	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AACATAGTCAGTTGTGTCCTG	0.453																																							uc004aqg.2		NA																	0				lung(3)|skin(1)	4						c.(790-792)ACT>ATT		src homology 2 domain-containing transforming							220.0	214.0	216.0					9																	91680488		2203	4300	6503	SO:0001583	missense	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91680488G>A	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.791C>T	9.37:g.91680488G>A	ENSP00000364995:p.Thr264Ile						p.T264I	NM_016848	NP_058544	Q92529	SHC3_HUMAN			6	1098	-			264			PID.		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	c.791C>T	CCDS6681.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434030	0.83776	.	.	ENSG00000148082	ENST00000375835	T	0.20200	2.09	5.18	5.18	0.71444	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.52759	1.655	0.80722	D	1	D	0.69078	0.997	D	0.76575	0.988	T	0.03829	-1.1000	10	0.44086	T	0.13	-1.6121	15.7187	0.77691	0.0:0.0:1.0:0.0	.	264	Q92529	SHC3_HUMAN	I	264	ENSP00000364995:T264I	ENSP00000364995:T264I	T	-	2	0	SHC3	90870308	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	8.126000	0.89592	2.688000	0.91661	0.655000	0.94253	ACT		0.453	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		49	135	0	0	0	0.000781405	0	49	135				
OR13C4	138804	broad.mit.edu	37	9	107289445	107289445	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr9:107289445C>G	ENST00000277216.3	-	1	45	c.46G>C	c.(46-48)Gga>Cga	p.G16R		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CCAGAGAGTCCCAGAAGAATG	0.398																																							uc011lvn.1		NA																	0				skin(1)	1						c.(46-48)GGA>CGA		olfactory receptor, family 13, subfamily C,							75.0	74.0	74.0					9																	107289445		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107289445C>G		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.46G>C	9.37:g.107289445C>G	ENSP00000277216:p.Gly16Arg						p.G16R	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	46	-			16			Extracellular (Potential).		Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.46G>C	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532808	0.64972	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.00659	5.94	4.45	4.45	0.53987	.	0.000000	0.46145	U	0.000318	T	0.05593	0.0147	M	0.92923	3.36	0.29029	N	0.885829	D	0.64830	0.994	P	0.61397	0.888	T	0.00942	-1.1506	10	0.87932	D	0	.	14.9629	0.71169	0.0:1.0:0.0:0.0	.	16	Q8NGS5	O13C4_HUMAN	R	16;45	ENSP00000277216:G16R	ENSP00000277216:G16R	G	-	1	0	OR13C4	106329266	0.035000	0.19736	0.999000	0.59377	0.996000	0.88848	2.919000	0.48836	2.449000	0.82847	0.591000	0.81541	GGA		0.398	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			23	72	0	0	0	0.000295444	0	23	72				
ASTN2	23245	broad.mit.edu	37	9	119976979	119976979	+	Missense_Mutation	SNP	C	C	T	rs144385545		TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr9:119976979C>T	ENST00000313400.4	-	3	773	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	ASTN2_ENST00000361477.3_De_novo_Start_InFrame|ASTN2_ENST00000373996.3_Missense_Mutation_p.V225M|ASTN2_ENST00000361209.2_Missense_Mutation_p.V225M			O75129	ASTN2_HUMAN	astrotactin 2	225					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.V225M(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TACAGCGCCACGGTGAACACC	0.602																																							uc004bjs.1		NA																	1	Substitution - Missense(1)		endometrium(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(673-675)GTG>ATG		astrotactin 2 isoform c							40.0	40.0	40.0					9																	119976979		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119976979C>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.673G>A	9.37:g.119976979C>T	ENSP00000314038:p.Val225Met					ASTN2_uc004bjr.1_Missense_Mutation_p.V225M|ASTN2_uc004bjt.1_Missense_Mutation_p.V225M	p.V225M	NM_198187	NP_937830	O75129	ASTN2_HUMAN			3	774	-			225			Helical; (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.673G>A		.	.	.	.	.	.	.	.	.	.	C	8.012	0.757753	0.15846	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.10573	2.91;2.91;2.86	5.51	5.51	0.81932	.	0.090295	0.45867	D	0.000322	T	0.08044	0.0201	N	0.03608	-0.345	0.47214	D	0.999356	P;D;P	0.62365	0.473;0.991;0.544	B;P;B	0.47102	0.034;0.537;0.142	T	0.50625	-0.8806	9	.	.	.	-19.5974	19.0397	0.92993	0.0:1.0:0.0:0.0	.	225;225;225	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	M	225	ENSP00000314038:V225M;ENSP00000363108:V225M;ENSP00000354504:V225M	.	V	-	1	0	ASTN2	119016800	1.000000	0.71417	0.953000	0.39169	0.856000	0.48823	4.124000	0.57924	2.599000	0.87857	0.655000	0.94253	GTG		0.602	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		13	25	0	0	0	0.000219431	0	13	25				
TLR4	7099	broad.mit.edu	37	9	120476644	120476644	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr9:120476644G>T	ENST00000355622.6	+	3	2339	c.2238G>T	c.(2236-2238)tgG>tgT	p.W746C	TLR4_ENST00000394487.4_Missense_Mutation_p.W706C|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	746	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AGAGCCGCTGGTGTATCTTTG	0.498																																							uc004bjz.2		NA																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(2236-2238)TGG>TGT		toll-like receptor 4 precursor							74.0	75.0	75.0					9																	120476644		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476644G>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2238G>T	9.37:g.120476644G>T	ENSP00000363089:p.Trp746Cys					TLR4_uc004bka.2_Missense_Mutation_p.W706C|TLR4_uc004bkb.2_Missense_Mutation_p.W546C	p.W746C	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2529	+			746			Cytoplasmic (Potential).|TIR.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.2238G>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439983	0.83993	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.04015	3.73;3.73	6.03	6.03	0.97812	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000004	T	0.32285	0.0824	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.14587	-1.0467	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	746	O00206	TLR4_HUMAN	C	706;746	ENSP00000377997:W706C;ENSP00000363089:W746C	ENSP00000363089:W746C	W	+	3	0	TLR4	119516465	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.529000	0.98049	2.861000	0.98227	0.655000	0.94253	TGG		0.498	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		27	43	1	0	4.7796e-09	0.000720815	3.74764e-08	27	43				
MAGED2	10916	broad.mit.edu	37	X	54837297	54837297	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chrX:54837297G>A	ENST00000375068.1	+	4	814	c.581G>A	c.(580-582)aGt>aAt	p.S194N	MAGED2_ENST00000375062.4_Missense_Mutation_p.S156N|MAGED2_ENST00000375060.1_Missense_Mutation_p.S156N|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000375053.2_Missense_Mutation_p.S194N|MAGED2_ENST00000396224.1_Missense_Mutation_p.S194N|MAGED2_ENST00000375058.1_Missense_Mutation_p.S194N|MAGED2_ENST00000218439.4_Missense_Mutation_p.S194N|MAGED2_ENST00000347546.4_Missense_Mutation_p.S176N			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	194						membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						AGTGATCAGAGTCAGGCTTCT	0.567																																							uc004dtk.1		NA																	0				ovary(2)|breast(1)	3						c.(580-582)AGT>AAT		melanoma antigen family D, 2							53.0	52.0	52.0					X																	54837297		2203	4300	6503	SO:0001583	missense	10916							g.chrX:54837297G>A	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.581G>A	X.37:g.54837297G>A	ENSP00000364209:p.Ser194Asn					MAGED2_uc004dtl.1_Missense_Mutation_p.S194N|MAGED2_uc004dtm.1_Missense_Mutation_p.S156N|MAGED2_uc010nkc.1_Missense_Mutation_p.S194N|MAGED2_uc004dtn.1_Missense_Mutation_p.S194N|MAGED2_uc004dto.1_Missense_Mutation_p.S168N	p.S194N	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN			4	675	+			194					A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	c.581G>A	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612382	0.66672	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.72394	0.92;0.92;4.02;-0.65;0.96;0.92;0.92;0.96;0.92	3.68	2.81	0.32909	.	0.140180	0.33591	N	0.004757	T	0.69878	0.3160	L	0.27053	0.805	0.28838	N	0.896774	D;D;D	0.63046	0.992;0.967;0.987	D;P;D	0.68943	0.961;0.878;0.914	T	0.61931	-0.6961	10	0.38643	T	0.18	.	8.4097	0.32636	0.1229:0.0:0.8771:0.0	.	176;156;194	Q9UNF1-2;Q5H907;Q9UNF1	.;.;MAGD2_HUMAN	N	194;194;138;176;156;194;194;156;194	ENSP00000364209:S194N;ENSP00000364193:S194N;ENSP00000336962:S138N;ENSP00000340290:S176N;ENSP00000364202:S156N;ENSP00000218439:S194N;ENSP00000364198:S194N;ENSP00000364200:S156N;ENSP00000379526:S194N	ENSP00000218439:S194N	S	+	2	0	MAGED2	54854022	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.329000	0.43876	0.917000	0.36895	0.600000	0.82982	AGT		0.567	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		6	26	0	0	0	8.12818e-05	0	6	26				
OTUD6A	139562	broad.mit.edu	37	X	69282643	69282643	+	Missense_Mutation	SNP	G	G	A	rs201418224		TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chrX:69282643G>A	ENST00000338352.2	+	1	303	c.269G>A	c.(268-270)cGc>cAc	p.R90H		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	90					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CGGCCTCCCCGCTCCTCCAAA	0.577													G|||	1	0.000264901	0.0	0.0014	3775	,	,		12472	0.0		0.0	False		,,,				2504	0.0						uc004dxu.1		NA																	0				lung(1)|skin(1)	2						c.(268-270)CGC>CAC		OTU domain containing 6A		G	HIS/ARG	1,3833		0,1,1631,570	20.0	20.0	20.0		269	-3.1	0.0	X		20	0,6728		0,0,2428,1872	no	missense	OTUD6A	NM_207320.1	29	0,1,4059,2442	AA,AG,GG,G		0.0,0.0261,0.0095	benign	90/289	69282643	1,10561	2202	4300	6502	SO:0001583	missense	139562							g.chrX:69282643G>A	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.269G>A	X.37:g.69282643G>A	ENSP00000339389:p.Arg90His						p.R90H	NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN			1	303	+			90					B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	c.269G>A	CCDS14395.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	11.18	1.562413	0.27915	2.61E-4	0.0	ENSG00000189401	ENST00000338352	T	0.46819	0.86	4.2	-3.06	0.05379	.	0.456430	0.23090	N	0.052042	T	0.42966	0.1226	M	0.84683	2.71	0.09310	N	0.999999	B	0.25609	0.13	B	0.21917	0.037	T	0.35276	-0.9795	10	0.41790	T	0.15	.	5.7401	0.18089	0.5966:0.0:0.2513:0.1521	.	90	Q7L8S5	OTU6A_HUMAN	H	90	ENSP00000339389:R90H	ENSP00000339389:R90H	R	+	2	0	OTUD6A	69199368	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.126000	0.10563	-1.007000	0.03408	-0.271000	0.10264	CGC		0.577	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		6	5	0	0	0	8.12818e-05	0	6	5				
IL13RA2	3598	broad.mit.edu	37	X	114249119	114249119	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chrX:114249119G>C	ENST00000371936.1	-	5	514	c.265C>G	c.(265-267)Cta>Gta	p.L89V	IL13RA2_ENST00000468224.1_5'UTR|IL13RA2_ENST00000243213.1_Missense_Mutation_p.L89V			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	89	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TTGTAATGTAGATTCTTAGTA	0.353																																							uc004epx.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(265-267)CTA>GTA		interleukin 13 receptor, alpha 2 precursor							95.0	75.0	82.0					X																	114249119		2203	4300	6503	SO:0001583	missense	3598					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	g.chrX:114249119G>C	X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.265C>G	X.37:g.114249119G>C	ENSP00000361004:p.Leu89Val					IL13RA2_uc010nqd.1_Missense_Mutation_p.L89V	p.L89V	NM_000640	NP_000631	Q14627	I13R2_HUMAN			4	390	-			89			Extracellular (Potential).|Fibronectin type-III 1.		A8K7E2|O00667	Missense_Mutation	SNP	ENST00000371936.1	37	c.265C>G	CCDS14565.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199468	0.58126	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	T;T	0.42131	0.98;0.98	5.18	4.3	0.51218	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.332186	0.29002	N	0.013449	T	0.56630	0.1998	M	0.70275	2.135	0.42909	D	0.994254	D;P	0.69078	0.997;0.947	D;P	0.70227	0.968;0.635	T	0.53613	-0.8414	10	0.26408	T	0.33	-12.0276	8.6661	0.34121	0.1081:0.0:0.8919:0.0	.	89;89	D0EFR8;Q14627	.;I13R2_HUMAN	V	89	ENSP00000361004:L89V;ENSP00000243213:L89V	ENSP00000243213:L89V	L	-	1	2	IL13RA2	114155375	0.973000	0.33851	0.964000	0.40570	0.954000	0.61252	1.687000	0.37680	2.393000	0.81446	0.538000	0.68166	CTA		0.353	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640		36	73	0	0	0	0.000692331	0	36	73				
IL13RA2	3598	broad.mit.edu	37	X	114250375	114250375	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chrX:114250375G>A	ENST00000371936.1	-	4	353	c.104C>T	c.(103-105)cCt>cTt	p.P35L	IL13RA2_ENST00000468224.1_5'UTR|IL13RA2_ENST00000243213.1_Missense_Mutation_p.P35L			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	35	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AAAATCCTGAGGAGGGTTAAC	0.358																																							uc004epx.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(103-105)CCT>CTT		interleukin 13 receptor, alpha 2 precursor							65.0	56.0	59.0					X																	114250375		2203	4299	6502	SO:0001583	missense	3598					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	g.chrX:114250375G>A	X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.104C>T	X.37:g.114250375G>A	ENSP00000361004:p.Pro35Leu					IL13RA2_uc010nqd.1_Missense_Mutation_p.P35L	p.P35L	NM_000640	NP_000631	Q14627	I13R2_HUMAN			3	229	-			35			Extracellular (Potential).|Fibronectin type-III 1.		A8K7E2|O00667	Missense_Mutation	SNP	ENST00000371936.1	37	c.104C>T	CCDS14565.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120735	0.56613	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	T;T	0.76316	-1.01;-1.01	4.99	4.99	0.66335	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86661	0.5986	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87980	0.2742	10	0.87932	D	0	-12.7775	12.3428	0.55103	0.0:0.0:1.0:0.0	.	35;35	D0EFR8;Q14627	.;I13R2_HUMAN	L	35	ENSP00000361004:P35L;ENSP00000243213:P35L	ENSP00000243213:P35L	P	-	2	0	IL13RA2	114156631	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	5.674000	0.68117	2.304000	0.77564	0.594000	0.82650	CCT		0.358	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640		13	29	0	0	0	0.00136819	0	13	29				
ZFP36L2	678	broad.mit.edu	37	2	43452831	43452832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-78-7540-01A-11D-2063-08	TCGA-78-7540-11A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6563465a-81d3-4a39-9fef-f276094d2052	6f6df2a5-d696-4051-bac1-b3407f0cdb72	g.chr2:43452831_43452832insC	ENST00000282388.3	-	2	404_405	c.111_112insG	c.(109-114)gggacgfs	p.T38fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	38					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GCCACAGGCGTCCCCACCGCCT	0.663																																							uc002rsv.3		NA																	0					0						c.(109-114)GGGACGfs		zinc finger protein 36, C3H type-like 2																																				SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452831_43452832insC	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.112dupG	2.37:g.43452835_43452835dupC	ENSP00000282388:p.Thr38fs					LOC100129726_uc010ynx.1_5'Flank	p.G37fs	NM_006887	NP_008818	P47974	TISD_HUMAN			2	402_403	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	37_38					Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	c.111_112insG	CCDS1811.1																																																																																				0.663	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		7	9	NA	NA	NA	NA	NA	7	9	---	---	---	---
