#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TULP1	7287	broad.mit.edu	37	6	35473554	35473554	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr6:35473554A>G	ENST00000229771.6	-	11	1155	c.1076T>C	c.(1075-1077)cTg>cCg	p.L359P	TULP1_ENST00000322263.4_Missense_Mutation_p.L306P	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	359					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCTCGGGACAGATTGGTAGG	0.577																																					GBM(55;1027 1091 11115 23439)	uc003okv.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1075-1077)cTg>cCg		Homo sapiens tubby like protein 1 (TULP1), mRNA.							91.0	82.0	85.0					6																	35473554		2203	4300	6503	SO:0001583	missense	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35473554A>G	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1076T>C	6.37:g.35473554A>G	ENSP00000229771:p.Leu359Pro					TULP1_uc003okw.4_Missense_Mutation_p.L306P|TULP1_uc021yyx.1_Missense_Mutation_p.L359P|TULP1_uc021yyy.1_Missense_Mutation_p.L358P	p.L359P	NM_003322	NP_003313	O00294	TULP1_HUMAN			10	1088	-			359					O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	c.1076T>C	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757216	0.69648	.	.	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.97529	-4.42;-4.42	4.4	4.4	0.53042	Tubby, C-terminal (4);	0.082541	0.50627	D	0.000114	D	0.98988	0.9655	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99278	1.0895	10	0.87932	D	0	-3.0983	13.8182	0.63306	1.0:0.0:0.0:0.0	.	306;359	O00294-2;O00294	.;TULP1_HUMAN	P	359;306	ENSP00000229771:L359P;ENSP00000319414:L306P	ENSP00000229771:L359P	L	-	2	0	TULP1	35581532	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	9.079000	0.94032	1.861000	0.53984	0.402000	0.26972	CTG		0.577	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			24	26	0	0	0	1	0	24	26				
SHANK1	50944	broad.mit.edu	37	19	51189611	51189611	+	Splice_Site	SNP	G	G	T			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr19:51189611G>T	ENST00000293441.1	-	20	2478	c.2460C>A	c.(2458-2460)aaC>aaA	p.N820K	SHANK1_ENST00000391814.1_Splice_Site_p.N828K|SHANK1_ENST00000391813.1_Splice_Site_p.N207K|SHANK1_ENST00000359082.3_Splice_Site_p.N811K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	820					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGTCCAGTTTGTCTAGGGGTA	0.572																																						uc002psx.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.e20-1		Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.							109.0	95.0	100.0					19																	51189611		2203	4300	6503	SO:0001630	splice_region_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51189611G>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2459-1C>A	19.37:g.51189611G>T						SHANK1_uc002psw.1_Splice_Site_p.N204_splice	p.N820_splice	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	20	2478	-		all_neural(266;0.057)	820					A8MXP5|B7WNY6|Q9NYW9	Splice_Site	SNP	ENST00000293441.1	37	c.2459_splice	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782614	0.31502	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	3.91	3.91	0.45181	.	0.427573	0.19891	U	0.103735	T	0.42359	0.1199	L	0.38531	1.155	0.45076	D	0.998092	D;P	0.59357	0.985;0.955	P;P	0.53518	0.728;0.636	T	0.22521	-1.0214	10	0.46703	T	0.11	.	9.1034	0.36683	0.1047:0.0:0.8953:0.0	.	820;207	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	K	820;207;811;828	ENSP00000293441:N820K;ENSP00000375689:N207K;ENSP00000351984:N811K;ENSP00000375690:N828K	ENSP00000293441:N820K	N	-	3	2	SHANK1	55881423	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.044000	0.57361	2.211000	0.71520	0.478000	0.44815	AAC		0.572	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	Missense_Mutation	21	47	0	0	0	1	0	21	47				
PCSK7	9159	broad.mit.edu	37	11	117094847	117094847	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr11:117094847T>C	ENST00000320934.3	-	8	1631	c.1001A>G	c.(1000-1002)aAc>aGc	p.N334S	PCSK7_ENST00000540028.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	334	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GCAGTTGTCGTTGTGTTGGCC	0.547			T	IGH@	MLCLS																																	uc001pqr.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1000-1002)aAc>aGc		Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.							316.0	235.0	263.0					11																	117094847		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117094847T>C	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1001A>G	11.37:g.117094847T>C	ENSP00000325917:p.Asn334Ser						p.N334S	NM_004716	NP_004707	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	7	1202	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	334			Catalytic.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.1001A>G	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633579	0.47049	.	.	ENSG00000160613	ENST00000320934;ENST00000543900	D	0.87179	-2.22	5.6	4.48	0.54585	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.136637	0.64402	D	0.000003	T	0.76652	0.4017	N	0.20766	0.605	0.80722	D	1	B	0.23128	0.08	B	0.27887	0.084	T	0.72171	-0.4371	10	0.40728	T	0.16	-35.6846	7.2091	0.25923	0.0:0.2198:0.0:0.7802	.	334	Q16549	PCSK7_HUMAN	S	334	ENSP00000325917:N334S	ENSP00000325917:N334S	N	-	2	0	PCSK7	116600057	0.907000	0.30839	1.000000	0.80357	0.912000	0.54170	1.387000	0.34430	2.120000	0.65058	0.533000	0.62120	AAC		0.547	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		4	56	0	0	0	1	0	4	56				
PKHD1	5314	broad.mit.edu	37	6	51892687	51892687	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr6:51892687G>A	ENST00000371117.3	-	31	3843	c.3568C>T	c.(3568-3570)Ctc>Ttc	p.L1190F	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1190F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1190	IPT/TIG 6; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGATGTGGAGATCAACCCTA	0.443																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3568-3570)Ctc>Ttc		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							72.0	71.0	71.0					6																	51892687		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51892687G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3568C>T	6.37:g.51892687G>A	ENSP00000360158:p.Leu1190Phe					PKHD1_uc003pai.3_Missense_Mutation_p.L1190F	p.L1190F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			30	3844	-	Lung NSC(77;0.0605)		1190			IPT/TIG 6; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3568C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710968	0.68730	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87650	-2.07;-2.28	5.71	4.84	0.62591	Cell surface receptor IPT/TIG (1);Immunoglobulin-like fold (1);	0.089544	0.48767	D	0.000172	D	0.89241	0.6659	M	0.69823	2.125	0.31280	N	0.690749	D;D	0.76494	0.999;0.998	D;D	0.73708	0.981;0.915	D	0.86203	0.1620	10	0.32370	T	0.25	.	13.8898	0.63731	0.0731:0.0:0.9269:0.0	.	1190;1190	P08F94-2;P08F94	.;PKHD1_HUMAN	F	1190	ENSP00000360158:L1190F;ENSP00000341097:L1190F	ENSP00000341097:L1190F	L	-	1	0	PKHD1	52000646	0.998000	0.40836	0.981000	0.43875	0.932000	0.56968	2.960000	0.49161	1.408000	0.46895	0.655000	0.94253	CTC		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		17	13	0	0	0	1	0	17	13				
LRFN4	78999	broad.mit.edu	37	11	66626537	66626537	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr11:66626537G>A	ENST00000309602.4	+	1	1565	c.1322G>A	c.(1321-1323)aGc>aAc	p.S441N	PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	441	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CAGTACAACAGCAGCGAAGAT	0.662																																						uc001ojr.3																			0				breast(1)|lung(1)|prostate(1)	3						c.(1321-1323)aGc>aAc		Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.							65.0	66.0	66.0					11																	66626537		2196	4283	6479	SO:0001583	missense	78999					integral to membrane		g.chr11:66626537G>A	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1322G>A	11.37:g.66626537G>A	ENSP00000312535:p.Ser441Asn					PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron	p.S441N	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN			0	1662	+			441			Fibronectin type-III.		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.1322G>A	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047842	0.75846	.	.	ENSG00000173621	ENST00000309602	T	0.57436	0.4	4.26	4.26	0.50523	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000014	T	0.61912	0.2385	L	0.55213	1.73	0.80722	D	1	D	0.63046	0.992	D	0.68483	0.958	T	0.57183	-0.7855	10	0.07990	T	0.79	.	14.2032	0.65719	0.0:0.0:1.0:0.0	.	441	Q6PJG9	LRFN4_HUMAN	N	441	ENSP00000312535:S441N	ENSP00000312535:S441N	S	+	2	0	LRFN4	66383113	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.330000	0.96422	2.214000	0.71695	0.462000	0.41574	AGC		0.662	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		30	60	0	0	0	1	0	30	60				
RNF213	57674	broad.mit.edu	37	17	78343413	78343413	+	Silent	SNP	T	T	C			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:78343413T>C	ENST00000582970.1	+	45	12410	c.12267T>C	c.(12265-12267)atT>atC	p.I4089I	RNF213_ENST00000336301.6_Silent_p.I2162I|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.I4138I|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4089					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGAAGTGATTGAGAGCCTGC	0.517																																						uc002jyh.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(12412-12414)atT>atC		SubName: Full=Uncharacterized protein;							98.0	91.0	93.0					17																	78343413		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78343413T>C	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12267T>C	17.37:g.78343413T>C						RNF213_uc021uen.1_Silent_p.I4089I|LOC100294362_uc002jyi.2_Intron	p.I4138I	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		45	12557	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.12414T>C	CCDS58606.1																																																																																				0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		31	57	0	0	0	1	0	31	57				
RGR	5995	broad.mit.edu	37	10	86014089	86014089	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr10:86014089A>T	ENST00000359452.4	+	5	570	c.532A>T	c.(532-534)Acc>Tcc	p.T178S	RGR_ENST00000358110.5_Missense_Mutation_p.T174S	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	174					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TAGAAACTTCACCAGCTTCCT	0.552																																					NSCLC(15;204 545 5889 6385 32445)	uc001kdd.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						c.(532-534)Acc>Tcc		Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.							207.0	177.0	187.0					10																	86014089		2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86014089A>T	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.532A>T	10.37:g.86014089A>T	ENSP00000352427:p.Thr178Ser					RGR_uc001kdc.1_Missense_Mutation_p.T174S|RGR_uc001kde.1_Missense_Mutation_p.T174S	p.T178S	NM_002921	NP_002912	P47804	RGR_HUMAN			4	570	+			174					A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000359452.4	37	c.532A>T	CCDS7374.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810036	0.50421	.	.	ENSG00000148604	ENST00000359452;ENST00000358110	T;T	0.36878	1.23;1.23	4.87	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.354367	0.32357	N	0.006204	T	0.31979	0.0814	L	0.43152	1.355	0.23997	N	0.996224	B;P;B	0.43633	0.001;0.813;0.004	B;P;B	0.44447	0.026;0.45;0.02	T	0.08911	-1.0699	10	0.23891	T	0.37	.	9.8976	0.41329	0.916:0.0:0.084:0.0	.	174;178;174	P47804-3;P47804-2;P47804	.;.;RGR_HUMAN	S	178;174	ENSP00000352427:T178S;ENSP00000350823:T174S	ENSP00000350823:T174S	T	+	1	0	RGR	86004069	1.000000	0.71417	0.997000	0.53966	0.647000	0.38526	2.599000	0.46231	0.973000	0.38340	0.459000	0.35465	ACC		0.552	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		32	45	0	0	0	1	0	32	45				
CEP152	22995	broad.mit.edu	37	15	49081163	49081163	+	Silent	SNP	C	C	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr15:49081163C>A	ENST00000380950.2	-	9	1195	c.1008G>T	c.(1006-1008)ctG>ctT	p.L336L	CEP152_ENST00000325747.5_Silent_p.L243L|CEP152_ENST00000399334.3_Silent_p.L336L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	336					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCAAGCTTTCCAGAGCCATTT	0.413																																						uc001zwz.3																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1006-1008)ctG>ctT		Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.							140.0	127.0	131.0					15																	49081163		1907	4126	6033	SO:0001819	synonymous_variant	22995				G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding	g.chr15:49081163C>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1008G>T	15.37:g.49081163C>A						CEP152_uc001zwy.3_Silent_p.L336L|CEP152_uc001zxa.2_Silent_p.L243L	p.L336L	NM_001194998	NP_001181927	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	8	1201	-		all_lung(180;0.0428)	336					E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	c.1008G>T	CCDS58361.1																																																																																				0.413	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		33	62	0	0	0	1	0	33	62				
TEX2	55852	broad.mit.edu	37	17	62265588	62265588	+	Silent	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:62265588G>A	ENST00000583097.1	-	5	2536	c.2364C>T	c.(2362-2364)agC>agT	p.S788S	TEX2_ENST00000584379.1_Silent_p.S788S|TEX2_ENST00000258991.3_Silent_p.S795S			Q8IWB9	TEX2_HUMAN	testis expressed 2	788					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGGGGCTTCGGCTTTCCTGGG	0.602																																						uc002jed.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2383-2385)agC>agT		Homo sapiens testis expressed 2 (TEX2), mRNA.							59.0	59.0	59.0					17																	62265588		2203	4300	6503	SO:0001819	synonymous_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62265588G>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2364C>T	17.37:g.62265588G>A						TEX2_uc002jec.3_Silent_p.S788S|TEX2_uc002jee.3_Silent_p.S788S	p.S795S	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	4	2536	-			788					Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37	c.2385C>T																																																																																					0.602	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		32	51	0	0	0	1	0	32	51				
PLEKHG4B	153478	broad.mit.edu	37	5	156214	156214	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr5:156214A>T	ENST00000283426.6	+	8	1219	c.1169A>T	c.(1168-1170)gAg>gTg	p.E390V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	390							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GACCAGCATGAGACGATGATG	0.582																																						uc003jak.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(1168-1170)gAg>gTg		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.							129.0	120.0	123.0					5																	156214		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:156214A>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1169A>T	5.37:g.156214A>T	ENSP00000283426:p.Glu390Val						p.E390V	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	7	1219	+			390						Missense_Mutation	SNP	ENST00000283426.6	37	c.1169A>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.432414	0.43224	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.29917	1.55;2.97	3.65	-1.63	0.08345	.	.	.	.	.	T	0.21801	0.0525	L	0.40543	1.245	0.09310	N	1	P	0.48230	0.907	B	0.41036	0.346	T	0.13791	-1.0496	9	0.44086	T	0.13	.	7.0739	0.25193	0.641:0.0:0.359:0.0	.	390	Q96PX9	PKH4B_HUMAN	V	390;304	ENSP00000283426:E390V;ENSP00000422493:E304V	ENSP00000283426:E390V	E	+	2	0	PLEKHG4B	209214	0.932000	0.31603	0.000000	0.03702	0.007000	0.05969	1.530000	0.36007	-0.527000	0.06374	0.383000	0.25322	GAG		0.582	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		26	46	0	0	0	1	0	26	46				
MYH2	4620	broad.mit.edu	37	17	10443979	10443979	+	Missense_Mutation	SNP	G	G	C	rs138162020		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:10443979G>C	ENST00000245503.5	-	11	1324	c.940C>G	c.(940-942)Cca>Gca	p.P314A	MYH2_ENST00000532183.2_Missense_Mutation_p.P314A|MYH2_ENST00000397183.2_Missense_Mutation_p.P314A|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	314	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.P314S(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGACAAATGGGTAATCATAT	0.363																																						uc010coi.3																			1	Substitution - Missense(1)	p.P314S(2)	skin(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(940-942)Cca>Gca		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							103.0	94.0	97.0					17																	10443979		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10443979G>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.940C>G	17.37:g.10443979G>C	ENSP00000245503:p.Pro314Ala					AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.P314A|MYH2_uc010coj.3_Missense_Mutation_p.P314A	p.P314A	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			10	1068	-			314			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.940C>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	5.887	0.347697	0.11126	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.85702	-2.02;-2.02;-2.02	5.25	4.27	0.50696	Myosin head, motor domain (2);	0.524332	0.14333	U	0.326202	T	0.73337	0.3574	N	0.16166	0.38	0.35393	D	0.790949	B;B	0.02656	0.0;0.0	B;B	0.13407	0.001;0.009	T	0.68591	-0.5368	10	0.11794	T	0.64	.	14.8469	0.70267	0.0:0.16:0.84:0.0	.	314;314	Q567P6;Q9UKX2	.;MYH2_HUMAN	A	314	ENSP00000433944:P314A;ENSP00000245503:P314A;ENSP00000380367:P314A	ENSP00000245503:P314A	P	-	1	0	MYH2	10384704	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	1.358000	0.34102	1.418000	0.47098	0.650000	0.86243	CCA		0.363	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		8	44	0	0	0	1	0	8	44				
DCAF8L1	139425	broad.mit.edu	37	X	27998790	27998790	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:27998790A>G	ENST00000441525.1	-	1	776	c.662T>C	c.(661-663)aTa>aCa	p.I221T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	221										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GTCCCACACTATCACCCTTAA	0.502																																						uc004dbx.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(661-663)aTa>aCa		Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.							48.0	39.0	42.0					X																	27998790		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998790A>G		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.662T>C	X.37:g.27998790A>G	ENSP00000405222:p.Ile221Thr						p.I221T	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			0	777	-			221					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.662T>C	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298201	0.23650	.	.	ENSG00000226372	ENST00000441525	T	0.60040	0.22	0.842	-0.79	0.10932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.372367	0.24085	N	0.041692	T	0.46073	0.1374	M	0.72894	2.215	0.28712	N	0.903508	B	0.16166	0.016	B	0.21360	0.034	T	0.35475	-0.9787	10	0.13853	T	0.58	-2.4346	4.7526	0.13068	0.6829:0.3171:0.0:0.0	.	221	A6NGE4	DC8L1_HUMAN	T	221	ENSP00000405222:I221T	ENSP00000405222:I221T	I	-	2	0	DCAF8L1	27908711	1.000000	0.71417	0.544000	0.28141	0.457000	0.32468	2.720000	0.47252	-0.292000	0.08999	-1.042000	0.02369	ATA		0.502	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		10	39	0	0	0	1	0	10	39				
PPP1R26	9858	broad.mit.edu	37	9	138379139	138379139	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr9:138379139C>T	ENST00000356818.2	+	4	3332	c.2783C>T	c.(2782-2784)cCt>cTt	p.P928L	PPP1R26_ENST00000401470.3_Missense_Mutation_p.P928L|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P928L|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.P928L|PPP1R26_ENST00000605286.1_Missense_Mutation_p.P928L	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	928					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AAGGGGCTCCCTGCTGCTCCT	0.672																																						uc004cfr.1																			0											c.(2782-2784)cCt>cTt		Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.							29.0	36.0	34.0					9																	138379139		2010	3940	5950	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138379139C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2783C>T	9.37:g.138379139C>T	ENSP00000349274:p.Pro928Leu					PPP1R26_uc022bpi.1_Missense_Mutation_p.P928L	p.P928L	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN			3	3332	+			928					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.2783C>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	C	9.863	1.196912	0.22037	.	.	ENSG00000196422	ENST00000356818	T	0.12039	2.72	5.01	2.93	0.34026	.	0.978768	0.08376	N	0.955239	T	0.14917	0.0360	L	0.29908	0.895	0.09310	N	1	P	0.46512	0.879	P	0.45377	0.478	T	0.27262	-1.0079	10	0.52906	T	0.07	-4.9793	11.3355	0.49500	0.3798:0.6202:0.0:0.0	.	928	Q5T8A7	PPR26_HUMAN	L	928	ENSP00000349274:P928L	ENSP00000349274:P928L	P	+	2	0	KIAA0649	137518960	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	0.409000	0.21082	1.078000	0.41014	0.462000	0.41574	CCT		0.672	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		10	64	0	0	0	1	0	10	64				
SETD1A	9739	broad.mit.edu	37	16	30991489	30991489	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr16:30991489A>G	ENST00000262519.8	+	14	5068	c.4382A>G	c.(4381-4383)aAc>aGc	p.N1461S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1461	Interaction with ASH2L, RBBP5 and WDR5.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GACTGGCTCAACGACACTCAC	0.612																																						uc002ead.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(4381-4383)aAc>aGc		Homo sapiens SET domain containing 1A (SETD1A), mRNA.							39.0	43.0	41.0					16																	30991489		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding	g.chr16:30991489A>G	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4382A>G	16.37:g.30991489A>G	ENSP00000262519:p.Asn1461Ser						p.N1461S	NM_014712	NP_055527	O15047	SET1A_HUMAN			13	5068	+			1461			Interaction with ASH2L, RBBP5 and WDR5.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.4382A>G	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009901	0.35415	.	.	ENSG00000099381	ENST00000262519	D	0.95447	-3.71	4.08	4.08	0.47627	COMPASS complex Set1 subunit, N-SET domain (1);	0.116424	0.53938	D	0.000041	D	0.94235	0.8149	M	0.66939	2.045	0.58432	D	0.999997	P	0.35328	0.495	B	0.38616	0.277	D	0.93907	0.7193	10	0.52906	T	0.07	.	12.1659	0.54129	1.0:0.0:0.0:0.0	.	1461	O15047	SET1A_HUMAN	S	1461	ENSP00000262519:N1461S	ENSP00000262519:N1461S	N	+	2	0	SETD1A	30898990	1.000000	0.71417	0.078000	0.20375	0.905000	0.53344	9.017000	0.93651	1.713000	0.51359	0.379000	0.24179	AAC		0.612	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		9	18	0	0	0	1	0	9	18				
USP9X	8239	broad.mit.edu	37	X	41058005	41058005	+	Splice_Site	SNP	T	T	C			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:41058005T>C	ENST00000324545.8	+	30	5236		c.e30+2		USP9X_ENST00000378308.2_Splice_Site	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAATAACTAGTAAGTATTTTT	0.294																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.3																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.e30+2		Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.							30.0	29.0	29.0					X																	41058005		2117	4241	6358	SO:0001630	splice_region_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41058005T>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4603+2T>C	X.37:g.41058005T>C						USP9X_uc004dfc.3_Splice_Site_p.T1535_splice	p.T1535_splice	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			30	5236	+			1535					O75550|Q8WWT3|Q8WX12	Splice_Site	SNP	ENST00000324545.8	37	c.4603_splice	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.193640	0.58017	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8864	0.63710	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP9X	40942949	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.077000	0.57598	1.724000	0.51502	0.441000	0.28932	.		0.294	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	Intron	10	16	0	0	0	1	0	10	16				
MAGEA11	4110	broad.mit.edu	37	X	148798323	148798323	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:148798323G>A	ENST00000355220.5	+	5	1279	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	MAGEA11_ENST00000333104.4_Missense_Mutation_p.E364K	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	393	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGCCCACGCTGAGACCAGCAA	0.532																																						uc004fdq.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(1177-1179)Gag>Aag		Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.							156.0	132.0	140.0					X																	148798323		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148798323G>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1177G>A	X.37:g.148798323G>A	ENSP00000347358:p.Glu393Lys					MAGEA11_uc004fdr.3_Missense_Mutation_p.E364K	p.E393K	NM_005366	NP_005357	P43364	MAGAB_HUMAN			4	1332	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		393			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.1177G>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	16.87	3.242963	0.58995	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	T;T	0.25912	1.77;1.77	0.976	0.976	0.19727	.	.	.	.	.	T	0.56499	0.1989	H	0.95437	3.67	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.40117	-0.9580	8	.	.	.	.	4.9662	0.14091	0.0:0.0:1.0:0.0	.	364;393	G5E962;P43364	.;MAGAB_HUMAN	K	364;393	ENSP00000328177:E364K;ENSP00000347358:E393K	.	E	+	1	0	MAGEA11	148576082	0.197000	0.23362	0.075000	0.20258	0.633000	0.38033	2.153000	0.42282	0.761000	0.33130	0.429000	0.28392	GAG		0.532	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		81	146	0	0	0	1	0	81	146				
TRPM2	7226	broad.mit.edu	37	21	45837906	45837906	+	Silent	SNP	G	G	A	rs376722041		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr21:45837906G>A	ENST00000397928.1	+	21	3688	c.3243G>A	c.(3241-3243)ccG>ccA	p.P1081P	AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000300482.5_Silent_p.P1081P|TRPM2_ENST00000397932.2_Silent_p.P1081P|TRPM2_ENST00000300481.9_Silent_p.P1061P|TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000423310.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1081					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ccgccgcgccgccccccTTCA	0.627																																						uc010gpt.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3241-3243)ccG>ccA		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.		A		1,4405	2.1+/-5.4	0,1,2202	51.0	52.0	52.0		3243	-8.7	0.1	21		52	0,8600		0,0,4300	no	coding-synonymous	TRPM2	NM_003307.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1081/1504	45837906	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45837906G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3243G>A	21.37:g.45837906G>A						TRPM2_uc002zet.1_Silent_p.P1081P|TRPM2_uc002zeu.1_Silent_p.P1081P|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.P1081P|TRPM2_uc002zex.1_Silent_p.P867P|TRPM2_uc002zey.1_Silent_p.P594P|TRPM2_uc011afe.2_Intron	p.P1081P	NM_003307	NP_003298	O94759	TRPM2_HUMAN			20	3343	+			1081					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.3243G>A	CCDS13710.1																																																																																				0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		23	45	0	0	0	1	0	23	45				
PCDHA10	56139	broad.mit.edu	37	5	140237165	140237165	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr5:140237165C>T	ENST00000307360.5	+	1	1532	c.1532C>T	c.(1531-1533)gCg>gTg	p.A511V	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A511V|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTGCACGCGGAGAGCGGC	0.701																																						uc003lhx.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1531-1533)gCg>gTg		Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.							66.0	73.0	71.0					5																	140237165		2196	4274	6470	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140237165C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1532C>T	5.37:g.140237165C>T	ENSP00000304234:p.Ala511Val					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.A511V|PCDHAC2_uc011dad.2_Missense_Mutation_p.A511V	p.A511V	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1532	+			526			Cadherin 5.		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1532C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941737	0.53079	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.61627	0.09;0.64	3.63	2.72	0.32119	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67878	0.2940	L	0.45698	1.435	0.21579	N	0.999634	D;D;D	0.69078	0.997;0.992;0.988	D;P;P	0.67725	0.953;0.819;0.815	T	0.59643	-0.7416	9	0.87932	D	0	.	13.082	0.59119	0.0:0.8373:0.1627:0.0	.	511;511;511	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	V	511	ENSP00000421030:A511V;ENSP00000304234:A511V	ENSP00000304234:A511V	A	+	2	0	PCDHA10	140217349	0.119000	0.22226	0.999000	0.59377	0.459000	0.32528	4.092000	0.57707	0.807000	0.34208	0.561000	0.74099	GCG		0.701	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		40	91	0	0	0	1	0	40	91				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	53	0	0	0	1	0	23	53				
CDYL2	124359	broad.mit.edu	37	16	80638351	80638351	+	Silent	SNP	G	G	C			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr16:80638351G>C	ENST00000570137.2	-	7	1610	c.1455C>G	c.(1453-1455)ctC>ctG	p.L485L	CDYL2_ENST00000563890.1_Silent_p.L486L|CDYL2_ENST00000566173.1_Silent_p.L486L|CDYL2_ENST00000562812.1_Silent_p.L486L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	485						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AGGAGCTCCAGAGCTGCTTGA	0.547																																						uc002ffs.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(1453-1455)ctC>ctG		Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.							133.0	126.0	128.0					16																	80638351		2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80638351G>C	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1455C>G	16.37:g.80638351G>C							p.L485L	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			6	1560	-			485					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.1455C>G	CCDS32493.1																																																																																				0.547	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		38	85	0	0	0	1	0	38	85				
IL2RG	3561	broad.mit.edu	37	X	70327615	70327615	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:70327615G>A	ENST00000374202.2	-	8	1172	c.1081C>T	c.(1081-1083)Cca>Tca	p.P361S	IL2RG_ENST00000374188.3_Missense_Mutation_p.P90S|IL2RG_ENST00000456850.2_Missense_Mutation_p.P171S|CXorf65_ENST00000374251.5_5'Flank	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GTGTAACATGGGGGGGCCCAG	0.577									Severe Combined Immunodeficiency, X-linked																													uc004dyw.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15						c.(1081-1083)Cca>Tca		Homo sapiens interleukin 2 receptor, gamma (IL2RG), mRNA.	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)						33.0	33.0	33.0					X																	70327615		2203	4293	6496	SO:0001583	missense	3561	Severe Combined Immunodeficiency, X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70327615G>A	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.1081C>T	X.37:g.70327615G>A	ENSP00000363318:p.Pro361Ser					CXorf65_uc011mpo.2_5'Flank|CXorf65_uc011mpp.2_5'Flank|IL2RG_uc004dyv.2_Missense_Mutation_p.P90S|IL2RG_uc004dyx.2_Missense_Mutation_p.P171S	p.P361S	NM_000206	NP_000197	P31785	IL2RG_HUMAN			7	1173	-	Renal(35;0.156)		361					Q5FC12	Missense_Mutation	SNP	ENST00000374202.2	37	c.1081C>T	CCDS14406.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445107	0.43429	.	.	ENSG00000147168	ENST00000374202;ENST00000456850;ENST00000374188	D;D;D	0.98937	-4.63;-5.25;-2.24	4.24	4.24	0.50183	.	1.453280	0.04433	N	0.369596	D	0.98912	0.9631	L	0.57536	1.79	0.27396	N	0.954998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.992;0.996	D	0.93950	0.7231	10	0.87932	D	0	-8.7593	10.933	0.47228	0.0:0.0:1.0:0.0	.	171;361;90	Q5FC12;P31785;Q5FC10	.;IL2RG_HUMAN;.	S	361;171;90	ENSP00000363318:P361S;ENSP00000388967:P171S;ENSP00000363303:P90S	ENSP00000363303:P90S	P	-	1	0	IL2RG	70244340	0.998000	0.40836	0.612000	0.29024	0.115000	0.19883	4.322000	0.59215	1.948000	0.56530	0.417000	0.27973	CCA		0.577	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2			9	19	0	0	0	1	0	9	19				
SENP2	59343	broad.mit.edu	37	3	185337150	185337150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr3:185337150delC	ENST00000296257.5	+	13	1546	c.1306delC	c.(1306-1308)catfs	p.H436fs	SENP2_ENST00000545472.1_Frame_Shift_Del_p.H426fs|SENP2_ENST00000427465.2_Frame_Shift_Del_p.H260fs	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	436	Protease.				cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCAGCACTTCATGTATTCAG	0.373																																						uc003fpn.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(1306-1308)catfs		Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.							71.0	76.0	74.0					3																	185337150		2203	4300	6503	SO:0001589	frameshift_variant	59343				Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding	g.chr3:185337150delC	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1306delC	3.37:g.185337150delC	ENSP00000296257:p.His436fs					SENP2_uc011brv.2_Frame_Shift_Del_p.H426fs|SENP2_uc011brw.2_Frame_Shift_Del_p.H249fs	p.H436fs	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		12	1477	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		436			Protease.		B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Frame_Shift_Del	DEL	ENST00000296257.5	37	c.1306delC	CCDS33902.1																																																																																				0.373	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		26	34						26	34	---	---	---	---
