#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
SCARB1	949	broad.mit.edu	37	12	125292412	125292412	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr12:125292412C>G	ENST00000415380.2	-	7	1029	c.904G>C	c.(904-906)Gtg>Ctg	p.V302L	SCARB1_ENST00000544327.1_Missense_Mutation_p.V248L|SCARB1_ENST00000540495.1_Missense_Mutation_p.V265L|SCARB1_ENST00000339570.5_Missense_Mutation_p.V302L|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000261693.6_Missense_Mutation_p.V302L|SCARB1_ENST00000376788.1_Missense_Mutation_p.V202L|SCARB1_ENST00000546215.1_Missense_Mutation_p.V302L|SCARB1_ENST00000541205.1_Missense_Mutation_p.V261L			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	302					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TTGGGAGCCACGAAGCGATAG	0.567																																						ENST00000339570.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(904-906)Gtg>Ctg		scavenger receptor class B, member 1	Phosphatidylserine(DB00144)						125.0	104.0	111.0					12																	125292412		2203	4300	6503	SO:0001583	missense	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125292412C>G	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.904G>C	12.37:g.125292412C>G	ENSP00000414979:p.Val302Leu					SCARB1_ENST00000544327.1_Missense_Mutation_p.V248L|SCARB1_ENST00000261693.6_Missense_Mutation_p.V302L|SCARB1_ENST00000546215.1_Missense_Mutation_p.V302L|SCARB1_ENST00000541205.1_Missense_Mutation_p.V261L|SCARB1_ENST00000540495.1_Missense_Mutation_p.V265L|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Missense_Mutation_p.V302L|SCARB1_ENST00000376788.1_Missense_Mutation_p.V202L	p.V302L	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	7	1100	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		302					F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37	c.904G>C		.	.	.	.	.	.	.	.	.	.	C	15.72	2.916249	0.52546	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	5.57	3.61	0.41365	.	0.556823	0.19469	N	0.113514	T	0.70098	0.3185	M	0.87971	2.92	0.40100	D	0.976355	B;B;B;B;B;B	0.27380	0.048;0.026;0.177;0.177;0.039;0.044	B;B;B;B;B;B	0.29440	0.102;0.028;0.102;0.102;0.025;0.034	T	0.65961	-0.6041	10	0.41790	T	0.15	-21.1876	4.4721	0.11717	0.1524:0.5881:0.0:0.2595	.	261;302;302;302;302;302	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	L	302;302;302;202;302;261;248;265	ENSP00000343795:V302L;ENSP00000414979:V302L;ENSP00000261693:V302L;ENSP00000365984:V202L;ENSP00000442862:V302L;ENSP00000446107:V261L;ENSP00000444851:V248L;ENSP00000443286:V265L	ENSP00000261693:V302L	V	-	1	0	SCARB1	123858365	0.951000	0.32395	1.000000	0.80357	0.988000	0.76386	1.249000	0.32839	0.591000	0.29711	0.491000	0.48974	GTG		0.567	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		16	40	0	0	0	1	0	16	40				
NBPF9	400818	broad.mit.edu	37	1	144828545	144828545	+	Missense_Mutation	SNP	A	A	T	rs199609970	byFrequency	TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr1:144828545A>T	ENST00000281815.8	+	13	1131	c.385A>T	c.(385-387)Aac>Tac	p.N129Y	NBPF9_ENST00000338347.4_Missense_Mutation_p.N531Y|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_Silent_p.S604S			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	789						cytoplasm (GO:0005737)		p.N531Y(1)		NS(2)|prostate(1)	3						TTCCAGGCTCAACGGCGTGCT	0.453																																						ENST00000338347.4																			1	Substitution - Missense(1)	p.N531Y(1)	endometrium(1)	NS(2)|prostate(1)	3						c.(1591-1593)Aac>Tac		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144828545A>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.385A>T	1.37:g.144828545A>T	ENSP00000281815:p.Asn129Tyr					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.N129Y|NBPF9_ENST00000440491.2_Silent_p.S604S	p.N531Y							14	1591	+									Missense_Mutation	SNP	ENST00000281815.8	37	c.1591A>T		.	.	.	.	.	.	.	.	.	.	.	9.174	1.021883	0.19433	.	.	ENSG00000168614	ENST00000338347;ENST00000281815	T;T	0.07444	3.19;3.19	0.618	-1.24	0.09435	.	.	.	.	.	T	0.07638	0.0192	.	.	.	0.09310	N	1	D;P;B;B;P	0.71674	0.998;0.6;0.02;0.011;0.716	D;P;B;B;B	0.63488	0.915;0.701;0.029;0.084;0.194	T	0.12041	-1.0563	7	0.51188	T	0.08	.	.	.	.	.	595;191;762;537;604	Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04	.;.;.;.;.	Y	531;129	ENSP00000342975:N531Y;ENSP00000281815:N129Y	ENSP00000281815:N129Y	N	+	1	0	NBPF9	143539902	0.002000	0.14202	0.001000	0.08648	0.007000	0.05969	-0.395000	0.07287	-0.516000	0.06470	0.163000	0.16589	AAC		0.453	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		5	185	0	0	0	1	0	5	185				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000355232.3_Splice_Site_p.H157R|AGAP10_ENST00000413193.2_Splice_Site_p.H228R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	3	26	0	0	0	1	0	3	26				
CYFIP2	26999	broad.mit.edu	37	5	156787349	156787349	+	Silent	SNP	C	C	T	rs373712469		TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr5:156787349C>T	ENST00000521420.1	+	24	2890	c.2799C>T	c.(2797-2799)tgC>tgT	p.C933C	CYFIP2_ENST00000522463.1_Silent_p.C763C|CYFIP2_ENST00000377576.3_Silent_p.C959C|CYFIP2_ENST00000347377.6_Silent_p.C959C|CYFIP2_ENST00000318218.6_Silent_p.C984C|CYFIP2_ENST00000435847.2_Silent_p.C658C|CYFIP2_ENST00000541131.1_Silent_p.C884C|CYFIP2_ENST00000442283.2_3'UTR					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAAGATATGCCGCTTGCCCC	0.517																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(2875-2877)tgC>tgT		cytoplasmic FMR1 interacting protein 2		C	,,	0,4108		0,0,2054	146.0	149.0	148.0		2877,2877,2877	1.8	1.0	5		148	1,8453		0,1,4226	no	coding-synonymous,coding-synonymous,coding-synonymous	CYFIP2	NM_001037332.2,NM_001037333.1,NM_014376.2	,,	0,1,6280	TT,TC,CC		0.0118,0.0,0.0080	,,	959/1254,959/1254,959/1254	156787349	1,12561	2054	4227	6281	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156787349C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2799C>T	5.37:g.156787349C>T						CYFIP2_ENST00000521420.1_Silent_p.C933C|CYFIP2_ENST00000522463.1_Silent_p.C763C|CYFIP2_ENST00000541131.1_Silent_p.C884C|CYFIP2_ENST00000318218.6_Silent_p.C984C|CYFIP2_ENST00000435847.2_Silent_p.C658C|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Silent_p.C959C	p.C959C	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		25	3308	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	984						Silent	SNP	ENST00000521420.1	37	c.2877C>T																																																																																					0.517	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		4	121	0	0	0	1	0	4	121				
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14.0	19.0	17.0					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			3	30	0	0	0	1	0	3	30				
NRL	4901	broad.mit.edu	37	14	24551759	24551759	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr14:24551759T>C	ENST00000561028.1	-	2	618	c.299A>G	c.(298-300)cAg>cGg	p.Q100R	NRL_ENST00000396995.1_5'Flank|NRL_ENST00000397002.2_Missense_Mutation_p.Q100R|NRL_ENST00000396997.1_Missense_Mutation_p.Q100R|NRL_ENST00000560550.1_5'Flank			P54845	NRL_HUMAN	neural retina leucine zipper	100					positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of rhodopsin gene expression (GO:0007468)|response to stimulus (GO:0050896)|retinal rod cell development (GO:0046548)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		GCCCTGACCCTGCAGCAGCTC	0.657																																						ENST00000561028.1																			0				lung(2)	2						c.(298-300)cAg>cGg		neural retina leucine zipper							33.0	36.0	35.0					14																	24551759		2198	4294	6492	SO:0001583	missense	4901				response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding	g.chr14:24551759T>C		CCDS9608.1	14q11.1-q11.2	2013-01-08			ENSG00000129535	ENSG00000129535			8002	protein-coding gene	gene with protein product		162080				1427865, 10192380	Standard	NM_006177		Approved	D14S46E, RP27, NRL-MAF	uc021rrk.1	P54845	OTTHUMG00000028789	ENST00000561028.1:c.299A>G	14.37:g.24551759T>C	ENSP00000454062:p.Gln100Arg					NRL_ENST00000397002.2_Missense_Mutation_p.Q100R|NRL_ENST00000396997.1_Missense_Mutation_p.Q100R	p.Q100R			P54845	NRL_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	618	-			100					A8MX14|Q53XD0	Missense_Mutation	SNP	ENST00000561028.1	37	c.299A>G	CCDS9608.1	.	.	.	.	.	.	.	.	.	.	T	7.337	0.620185	0.14193	.	.	ENSG00000129535	ENST00000397002;ENST00000396997	T;T	0.77229	-1.08;-1.08	5.19	5.19	0.71726	Maf transcription factor, N-terminal (1);	0.226336	0.34025	N	0.004322	T	0.64789	0.2630	L	0.36672	1.1	0.80722	D	1	B	0.29232	0.238	B	0.28011	0.085	T	0.59820	-0.7382	10	0.18710	T	0.47	-31.6105	8.3962	0.32559	0.1742:0.0:0.0:0.8258	.	100	P54845	NRL_HUMAN	R	100	ENSP00000380197:Q100R;ENSP00000380193:Q100R	ENSP00000337023:Q100R	Q	-	2	0	NRL	23621599	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.455000	0.35190	2.177000	0.69029	0.533000	0.62120	CAG		0.657	NRL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415595.1			3	40	0	0	0	1	0	3	40				
MEGF10	84466	broad.mit.edu	37	5	126754828	126754828	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr5:126754828C>T	ENST00000274473.6	+	12	1589	c.1322C>T	c.(1321-1323)aCc>aTc	p.T441I	MEGF10_ENST00000418761.2_Missense_Mutation_p.T441I|MEGF10_ENST00000503335.2_Missense_Mutation_p.T441I|MEGF10_ENST00000508365.1_Missense_Mutation_p.T441I	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	441	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GACTGCTCTACCCCATGCCCT	0.443																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1321-1323)aCc>aTc		multiple EGF-like-domains 10							230.0	212.0	218.0					5																	126754828		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126754828C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1322C>T	5.37:g.126754828C>T	ENSP00000274473:p.Thr441Ile					MEGF10_ENST00000508365.1_Missense_Mutation_p.T441I|MEGF10_ENST00000503335.2_Missense_Mutation_p.T441I|MEGF10_ENST00000418761.2_Missense_Mutation_p.T441I	p.T441I	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	12	1589	+		Prostate(80;0.165)	441			Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.1322C>T	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	9.462	1.093453	0.20471	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.73	0.584	0.17422	EGF-like region, conserved site (1);	0.378995	0.25405	N	0.030909	T	0.20941	0.0504	N	0.03115	-0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.18871	-1.0323	10	0.25106	T	0.35	-1.6204	9.9594	0.41686	0.0:0.5591:0.0:0.4409	.	441;441	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	I	441	ENSP00000423354:T441I;ENSP00000423195:T441I;ENSP00000416284:T441I;ENSP00000274473:T441I	ENSP00000274473:T441I	T	+	2	0	MEGF10	126782727	0.002000	0.14202	0.043000	0.18650	0.756000	0.42949	0.370000	0.20433	0.088000	0.17205	0.655000	0.94253	ACC		0.443	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		58	57	0	0	0	1	0	58	57				
PDE4A	5141	broad.mit.edu	37	19	10577609	10577609	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr19:10577609C>T	ENST00000352831.6	+	15	2083	c.1973C>T	c.(1972-1974)gCg>gTg	p.A658V	PDE4A_ENST00000344979.3_Missense_Mutation_p.A419V|PDE4A_ENST00000293683.5_Missense_Mutation_p.A632V|PDE4A_ENST00000592685.1_Missense_Mutation_p.A636V|PDE4A_ENST00000440014.2_Missense_Mutation_p.A597V|PDE4A_ENST00000380702.2_Missense_Mutation_p.A636V	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	658	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GAGACCTGGGCGGACCTTGTC	0.572																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1906-1908)gCg>gTg		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						56.0	61.0	59.0					19																	10577609		2203	4300	6503	SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10577609C>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1973C>T	19.37:g.10577609C>T	ENSP00000270474:p.Ala658Val					PDE4A_ENST00000344979.3_Missense_Mutation_p.A419V|PDE4A_ENST00000592685.1_Missense_Mutation_p.A636V|PDE4A_ENST00000440014.2_Missense_Mutation_p.A597V|PDE4A_ENST00000352831.6_Missense_Mutation_p.A658V|PDE4A_ENST00000293683.5_Missense_Mutation_p.A632V	p.A636V			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		16	1907	+			658			Catalytic.		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	c.1907C>T	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	c	24.6	4.545472	0.86022	.	.	ENSG00000065989	ENST00000419866;ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	4.87	4.87	0.63330	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.111639	0.64402	D	0.000010	D	0.88433	0.6435	M	0.67700	2.07	0.54753	D	0.999987	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.83275	0.936;0.996;0.942;0.965	D	0.89652	0.3870	10	0.87932	D	0	.	15.8874	0.79261	0.0:1.0:0.0:0.0	.	419;597;632;658	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	V	100;636;658;632;597;419	ENSP00000370078:A636V;ENSP00000270474:A658V;ENSP00000293683:A632V;ENSP00000394754:A597V;ENSP00000341007:A419V	ENSP00000293683:A632V	A	+	2	0	PDE4A	10438609	1.000000	0.71417	0.951000	0.38953	0.741000	0.42261	4.967000	0.63722	2.427000	0.82271	0.550000	0.68814	GCG		0.572	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			39	74	0	0	0	1	0	39	74				
GPR50	9248	broad.mit.edu	37	X	150349267	150349267	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chrX:150349267C>G	ENST00000218316.3	+	2	1281	c.1212C>G	c.(1210-1212)caC>caG	p.H404Q	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	404	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.H404Q(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTACCCACCACAAGTCTGTCT	0.602																																						ENST00000218316.3																			2	Substitution - Missense(2)	p.H404Q(2)	endometrium(2)	breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(1210-1212)caC>caG		G protein-coupled receptor 50							111.0	125.0	120.0					X																	150349267		2086	4201	6287	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349267C>G	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1212C>G	X.37:g.150349267C>G	ENSP00000218316:p.His404Gln						p.H404Q	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	1281	+	Acute lymphoblastic leukemia(192;6.56e-05)		404			Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.1212C>G	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	1.670	-0.509242	0.04231	.	.	ENSG00000102195	ENST00000218316	T	0.72942	-0.7	3.91	-7.81	0.01210	.	0.912891	0.09022	N	0.860024	T	0.40956	0.1138	N	0.19112	0.55	0.09310	N	1	P	0.35982	0.531	B	0.22753	0.041	T	0.30416	-0.9979	10	0.49607	T	0.09	-0.5391	3.6865	0.08329	0.1029:0.2982:0.1007:0.4981	.	404	Q13585	MTR1L_HUMAN	Q	404	ENSP00000218316:H404Q	ENSP00000218316:H404Q	H	+	3	2	GPR50	150099925	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.338000	0.07842	-3.015000	0.00271	-2.401000	0.00224	CAC		0.602	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		5	63	0	0	0	1	0	5	63				
DLC1	10395	broad.mit.edu	37	8	12958214	12958214	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr8:12958214G>T	ENST00000276297.4	-	9	2041	c.1632C>A	c.(1630-1632)agC>agA	p.S544R	DLC1_ENST00000520226.1_Missense_Mutation_p.S33R|DLC1_ENST00000512044.2_Missense_Mutation_p.S141R|DLC1_ENST00000358919.2_Missense_Mutation_p.S107R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	544					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ACCACCTCTTGCTGTCCCTTT	0.552																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1630-1632)agC>agA		deleted in liver cancer 1							42.0	46.0	44.0					8																	12958214		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12958214G>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1632C>A	8.37:g.12958214G>T	ENSP00000276297:p.Ser544Arg					DLC1_ENST00000358919.2_Missense_Mutation_p.S107R|DLC1_ENST00000520226.1_Missense_Mutation_p.S33R|DLC1_ENST00000512044.2_Missense_Mutation_p.S141R	p.S544R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2041	-			544					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.1632C>A	CCDS5989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.58|14.58	2.577403|2.577403	0.45902|0.45902	.|.	.|.	ENSG00000164741|ENSG00000164741	ENST00000503161|ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	.|T;T;T;T	.|0.45276	.|0.9;0.9;0.9;2.98	5.22|5.22	2.44|2.44	0.29823|0.29823	.|.	.|0.080946	.|0.85682	.|D	.|0.000000	T|T	0.59487|0.59487	0.2197|0.2197	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	.|D;P;B	.|0.76494	.|0.999;0.578;0.111	.|D;B;B	.|0.67725	.|0.953;0.321;0.122	T|T	0.61287|0.61287	-0.7093|-0.7093	6|10	0.87932|0.87932	D|D	0|0	.|.	10.6502|10.6502	0.45645|0.45645	0.207:0.0:0.793:0.0|0.207:0.0:0.793:0.0	.|.	.|544;141;107	.|Q96QB1;E9PDZ8;Q96QB1-1	.|RHG07_HUMAN;.;.	E|R	16|544;107;141;33	.|ENSP00000276297:S544R;ENSP00000351797:S107R;ENSP00000422595:S141R;ENSP00000428028:S33R	ENSP00000429537:A16E|ENSP00000276297:S544R	A|S	-|-	2|3	0|2	DLC1|DLC1	13002585|13002585	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.294000|2.294000	0.43567|0.43567	0.444000|0.444000	0.26612|0.26612	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.552	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		3	37	1	0	1	1	1	3	37				
RNPS1	10921	broad.mit.edu	37	16	2314324	2314324	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr16:2314324G>A	ENST00000565678.1	-	3	625	c.80C>T	c.(79-81)tCa>tTa	p.S27L	RNPS1_ENST00000320225.5_Missense_Mutation_p.S27L|RNPS1_ENST00000568631.1_Missense_Mutation_p.S27L|RNPS1_ENST00000397086.2_Missense_Mutation_p.S27L|RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000569598.2_Intron|RNPS1_ENST00000567147.1_Missense_Mutation_p.S4L|RNPS1_ENST00000301730.8_Missense_Mutation_p.S27L|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000566458.1_Missense_Mutation_p.S4L			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	27	Lys-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						TTTGGTAGGTGAAGGAGCCCT	0.557																																						ENST00000565678.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						c.(79-81)tCa>tTa		RNA binding protein S1, serine-rich domain							126.0	122.0	123.0					16																	2314324		2198	4300	6498	SO:0001583	missense	10921				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr16:2314324G>A	AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"""RNA binding motif (RRM) containing"""	10080	protein-coding gene	gene with protein product		606447	"""RNA-binding protein S1, serine-rich domain"""			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.80C>T	16.37:g.2314324G>A	ENSP00000457723:p.Ser27Leu					RNPS1_ENST00000566458.1_Missense_Mutation_p.S4L|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000569598.2_Intron|RNPS1_ENST00000568631.1_Missense_Mutation_p.S27L|RNPS1_ENST00000397086.2_Missense_Mutation_p.S27L|RNPS1_ENST00000567147.1_Missense_Mutation_p.S4L|RNPS1_ENST00000301730.8_Missense_Mutation_p.S27L|RNPS1_ENST00000320225.5_Missense_Mutation_p.S27L	p.S27L			Q15287	RNPS1_HUMAN			3	625	-			27			Lys-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.		A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Missense_Mutation	SNP	ENST00000565678.1	37	c.80C>T	CCDS10465.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596501	0.46318	.	.	ENSG00000205937	ENST00000320225;ENST00000397086;ENST00000301730	T;T;T	0.06687	3.27;3.27;3.27	5.69	4.7	0.59300	.	0.053945	0.85682	D	0.000000	T	0.13072	0.0317	M	0.67953	2.075	0.58432	D	0.999999	B;B	0.18166	0.026;0.015	B;B	0.21917	0.037;0.017	T	0.01839	-1.1263	10	0.72032	D	0.01	-10.7989	13.4247	0.61018	0.0:0.0:0.8417:0.1583	.	4;27	Q15287-2;Q15287	.;RNPS1_HUMAN	L	27	ENSP00000315859:S27L;ENSP00000380275:S27L;ENSP00000301730:S27L	ENSP00000301730:S27L	S	-	2	0	RNPS1	2254325	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	9.092000	0.94157	1.337000	0.45525	0.551000	0.68910	TCA		0.557	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1	NM_080594		8	116	0	0	0	1	0	8	116				
CRIPAK	285464	broad.mit.edu	37	4	1389323	1389323	+	Missense_Mutation	SNP	G	G	A	rs1140011	byFrequency	TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr4:1389323G>A	ENST00000324803.4	+	1	3984	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	342					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGAGTGCCCGCCTGCTCACA	0.667													-|||	3	0.000599042	0.0	0.0014	5008	,	,		15920	0.002		0.0	False		,,,				2504	0.0					ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1024-1026)Gcc>Acc		cysteine-rich PAK1 inhibitor		G	THR/ALA	0,4406		0,0,2203	158.0	166.0	163.0		1024	0.7	0.0	4	dbSNP_86	163	3,8597	3.0+/-9.4	0,3,4297	no	missense	CRIPAK	NM_175918.3	58	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	342/447	1389323	3,13003	2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389323G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1024G>A	4.37:g.1389323G>A	ENSP00000323978:p.Ala342Thr						p.A342T	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3984	+			342					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.1024G>A	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335892	0.41398	0.0	3.49E-4	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.19938	2.11	0.721	0.721	0.18219	.	.	.	.	.	T	0.07234	0.0183	N	0.08118	0	0.18873	N	0.999989	P	0.36065	0.535	B	0.20767	0.031	T	0.30268	-0.9984	9	0.20519	T	0.43	.	7.2686	0.26244	1.0E-4:0.0:0.9999:0.0	rs1140011	342	Q8N1N5	CRPAK_HUMAN	T	342;284	ENSP00000323978:A342T	ENSP00000323978:A342T	A	+	1	0	CRIPAK	1379323	0.000000	0.05858	0.013000	0.15412	0.268000	0.26511	-0.704000	0.05058	0.665000	0.31066	0.196000	0.17591	GCC		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		7	409	0	0	0	1	0	7	409				
TMEM132B	114795	broad.mit.edu	37	12	126138738	126138738	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr12:126138738G>A	ENST00000299308.3	+	9	2727	c.2719G>A	c.(2719-2721)Gtc>Atc	p.V907I	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	907						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTGCTCTGCGTCTTCTGTCT	0.522																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2719-2721)Gtc>Atc		transmembrane protein 132B							98.0	96.0	97.0					12																	126138738		2038	4218	6256	SO:0001583	missense	114795					integral to membrane		g.chr12:126138738G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2719G>A	12.37:g.126138738G>A	ENSP00000299308:p.Val907Ile					TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	p.V907I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2727	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		907					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2719G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720217	0.89205	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.21031	2.03;2.03	5.43	5.43	0.79202	.	0.107006	0.41294	N	0.000908	T	0.40372	0.1114	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.06991	-1.0796	10	0.45353	T	0.12	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	907	Q14DG7	T132B_HUMAN	I	907;419	ENSP00000299308:V907I;ENSP00000440436:V419I	ENSP00000299308:V907I	V	+	1	0	TMEM132B	124704691	1.000000	0.71417	0.985000	0.45067	0.895000	0.52256	7.748000	0.85085	2.543000	0.85770	0.655000	0.94253	GTC		0.522	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		4	96	0	0	0	1	0	4	96				
RFTN1	23180	broad.mit.edu	37	3	16419524	16419524	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr3:16419524G>A	ENST00000334133.4	-	5	799	c.527C>T	c.(526-528)gCt>gTt	p.A176V	RFTN1_ENST00000432519.1_Missense_Mutation_p.A140V	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	176					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AGACACCGGAGCACTGCTGCC	0.552																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(526-528)gCt>gTt		raftlin, lipid raft linker 1							70.0	65.0	67.0					3																	16419524		2203	4300	6503	SO:0001583	missense	23180					plasma membrane		g.chr3:16419524G>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.527C>T	3.37:g.16419524G>A	ENSP00000334153:p.Ala176Val					RFTN1_ENST00000432519.1_Missense_Mutation_p.A140V	p.A176V	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			5	799	-			176					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.527C>T	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625414	0.28889	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036	T;T;T	0.30981	1.51;1.51;1.51	5.71	2.91	0.33838	.	1.762400	0.02361	N	0.076893	T	0.14700	0.0355	N	0.02011	-0.69	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.12156	0.007;0.005	T	0.16748	-1.0392	10	0.33940	T	0.23	-5.0933	6.9532	0.24556	0.1532:0.1494:0.6974:0.0	.	140;176	G3XAJ6;Q14699	.;RFTN1_HUMAN	V	140;176;176	ENSP00000403926:A140V;ENSP00000334153:A176V;ENSP00000403997:A176V	ENSP00000334153:A176V	A	-	2	0	RFTN1	16394528	0.022000	0.18835	0.003000	0.11579	0.012000	0.07955	2.097000	0.41748	0.731000	0.32448	0.561000	0.74099	GCT		0.552	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		3	34	0	0	0	1	0	3	34				
SEMA6D	80031	broad.mit.edu	37	15	48063896	48063896	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr15:48063896C>T	ENST00000316364.5	+	19	3575	c.3136C>T	c.(3136-3138)Ccg>Tcg	p.P1046S	SEMA6D_ENST00000354744.4_Missense_Mutation_p.P990S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P1046S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P984S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P984S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P971S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P1003S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P1027S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P984S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	1046					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAAGAGGACGCCGTCCTTAAA	0.512																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(3136-3138)Ccg>Tcg		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							178.0	176.0	177.0					15																	48063896		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063896C>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.3136C>T	15.37:g.48063896C>T	ENSP00000324857:p.Pro1046Ser					SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P971S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P1046S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P984S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P990S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P984S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P1003S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P984S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P1027S	p.P1046S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	3575	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	1046					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.3136C>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459828	0.43736	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.18016	2.24;2.27;2.27;2.29;2.24;2.24;2.24;2.25	5.2	5.2	0.72013	.	0.348334	0.33631	N	0.004718	T	0.29158	0.0725	L	0.46157	1.445	0.80722	D	1	B;B;D;B	0.58268	0.259;0.164;0.982;0.259	B;B;P;B	0.52424	0.041;0.041;0.698;0.041	T	0.00931	-1.1510	10	0.66056	D	0.02	.	18.9313	0.92566	0.0:1.0:0.0:0.0	.	971;990;1046;984	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	S	984;1046;1046;1027;1003;990;984;971	ENSP00000442040:P984S;ENSP00000446152:P1046S;ENSP00000324857:P1046S;ENSP00000374084:P1027S;ENSP00000374083:P1003S;ENSP00000346786:P990S;ENSP00000350770:P984S;ENSP00000374079:P971S	ENSP00000324857:P1046S	P	+	1	0	SEMA6D	45851188	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.360000	0.59455	2.717000	0.92951	0.655000	0.94253	CCG		0.512	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		20	171	0	0	0	1	0	20	171				
PTCRA	171558	broad.mit.edu	37	6	42890951	42890951	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr6:42890951C>T	ENST00000304672.1	+	2	326	c.245C>T	c.(244-246)aCg>aTg	p.T82M	PTCRA_ENST00000441198.1_Missense_Mutation_p.T57M|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	82					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TCCCCAGCAACGGATGGCACC	0.622																																						ENST00000304672.1																			0				large_intestine(2)|lung(4)|ovary(2)	8						c.(244-246)aCg>aTg		pre T-cell antigen receptor alpha							170.0	134.0	146.0					6																	42890951		2203	4300	6503	SO:0001583	missense	171558					integral to membrane	receptor activity	g.chr6:42890951C>T	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.245C>T	6.37:g.42890951C>T	ENSP00000304447:p.Thr82Met					PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Missense_Mutation_p.T57M	p.T82M	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		2	326	+	Colorectal(47;0.196)		82					Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	c.245C>T	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455906	0.26161	.	.	ENSG00000171611	ENST00000304672;ENST00000441198	T;T	0.47869	0.88;0.83	5.84	-6.42	0.01932	Immunoglobulin-like fold (1);	1.223990	0.05940	N	0.636752	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	B;B	0.29253	0.239;0.016	B;B	0.15870	0.014;0.002	T	0.11470	-1.0586	10	0.56958	D	0.05	0.1062	0.4573	0.00511	0.2636:0.3062:0.1877:0.2426	.	57;82	Q6ISU1-3;Q6ISU1	.;PTCRA_HUMAN	M	82;57	ENSP00000304447:T82M;ENSP00000409550:T57M	ENSP00000304447:T82M	T	+	2	0	PTCRA	42998929	0.000000	0.05858	0.000000	0.03702	0.954000	0.61252	-0.603000	0.05674	-1.119000	0.02958	-1.223000	0.01593	ACG		0.622	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		14	55	0	0	0	1	0	14	55				
TFAP4	7023	broad.mit.edu	37	16	4312678	4312678	+	Silent	SNP	G	G	C			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr16:4312678G>C	ENST00000204517.6	-	2	442	c.114C>G	c.(112-114)ccC>ccG	p.P38P		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	38					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCTGAGTCTCGGGGGTTAGTG	0.622																																						ENST00000204517.6																			0				NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(112-114)ccC>ccG		transcription factor AP-4 (activating enhancer binding protein 4)							80.0	84.0	83.0					16																	4312678		2197	4300	6497	SO:0001819	synonymous_variant	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4312678G>C	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.114C>G	16.37:g.4312678G>C							p.P38P	NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN			2	442	-			38					O60409	Silent	SNP	ENST00000204517.6	37	c.114C>G	CCDS10510.1																																																																																				0.622	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		4	69	0	0	0	1	0	4	69				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	71	0	0	0	1	0	3	71				
ECT2	1894	broad.mit.edu	37	3	172480266	172480266	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr3:172480266T>G	ENST00000392692.3	+	9	995	c.819T>G	c.(817-819)gaT>gaG	p.D273E	ECT2_ENST00000441497.2_Missense_Mutation_p.D242E|ECT2_ENST00000232458.5_Missense_Mutation_p.D242E|ECT2_ENST00000427830.1_Missense_Mutation_p.D242E|ECT2_ENST00000540509.1_Missense_Mutation_p.D273E|ECT2_ENST00000417960.1_Missense_Mutation_p.D241E	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	273	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CATTTCAAGATTGTATTTTAA	0.294																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(721-723)gaT>gaG		epithelial cell transforming sequence 2 oncogene							91.0	88.0	89.0					3																	172480266		2203	4298	6501	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172480266T>G	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.819T>G	3.37:g.172480266T>G	ENSP00000376457:p.Asp273Glu					ECT2_ENST00000441497.2_Missense_Mutation_p.D242E|ECT2_ENST00000540509.1_Missense_Mutation_p.D273E|ECT2_ENST00000427830.1_Missense_Mutation_p.D242E|ECT2_ENST00000392692.3_Missense_Mutation_p.D273E|ECT2_ENST00000232458.5_Missense_Mutation_p.D242E	p.D241E	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		9	1200	+	Ovarian(172;0.00197)|Breast(254;0.158)		242			BRCT 2.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.723T>G	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584184	0.65992	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	5.81	3.38	0.38709	BRCT (4);	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	M	0.65975	2.015	0.53005	D	0.999963	P;D;P;P	0.60575	0.869;0.988;0.841;0.841	P;P;P;P	0.61201	0.796;0.885;0.583;0.583	T	0.82684	-0.0335	10	0.38643	T	0.18	-25.621	9.2887	0.37773	0.0:0.3092:0.0:0.6908	.	273;273;242;241	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	E	242;273;242;241;242;273	ENSP00000232458:D242E;ENSP00000376457:D273E;ENSP00000401910:D242E;ENSP00000415876:D241E;ENSP00000412259:D242E;ENSP00000443160:D273E	ENSP00000232458:D242E	D	+	3	2	ECT2	173962960	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.902000	0.28459	1.014000	0.39417	0.482000	0.46254	GAT		0.294	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		5	34	0	0	0	1	0	5	34				
ZP1	22917	broad.mit.edu	37	11	60637317	60637317	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr11:60637317C>T	ENST00000278853.5	+	3	626	c.626C>T	c.(625-627)gCt>gTt	p.A209V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	209					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCACCCTGGCTCAACCCCAC	0.587																																						ENST00000278853.5																			0				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(625-627)gCt>gTt		zona pellucida glycoprotein 1 (sperm receptor)							58.0	55.0	56.0					11																	60637317		2203	4299	6502	SO:0001583	missense	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60637317C>T	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.626C>T	11.37:g.60637317C>T	ENSP00000278853:p.Ala209Val						p.A209V	NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN			3	626	+			209						Missense_Mutation	SNP	ENST00000278853.5	37	c.626C>T	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614760	0.46631	.	.	ENSG00000149506	ENST00000278853	T	0.23348	1.91	4.44	3.52	0.40303	.	.	.	.	.	T	0.15565	0.0375	N	0.22421	0.69	0.09310	N	1	B	0.30068	0.267	B	0.25291	0.059	T	0.17715	-1.0360	9	0.29301	T	0.29	-0.811	8.6112	0.33804	0.0:0.8903:0.0:0.1097	.	209	P60852	ZP1_HUMAN	V	209	ENSP00000278853:A209V	ENSP00000278853:A209V	A	+	2	0	ZP1	60393893	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	-0.518000	0.06267	0.978000	0.38470	0.460000	0.39030	GCT		0.587	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		3	37	0	0	0	1	0	3	37				
ADAMTSL3	57188	broad.mit.edu	37	15	84611672	84611672	+	Silent	SNP	C	C	T			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr15:84611672C>T	ENST00000286744.5	+	19	2552	c.2328C>T	c.(2326-2328)ggC>ggT	p.G776G	ADAMTSL3_ENST00000567476.1_Silent_p.G776G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	776	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGACTTGTGGCGGGGGAACTC	0.537																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(2326-2328)ggC>ggT		ADAMTS-like 3							52.0	57.0	56.0					15																	84611672		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84611672C>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2328C>T	15.37:g.84611672C>T						ADAMTSL3_ENST00000567476.1_Silent_p.G776G	p.G776G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		19	2552	+			776			TSP type-1 6.		A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.2328C>T	CCDS10326.1																																																																																				0.537	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		3	29	0	0	0	1	0	3	29				
COL11A2	1302	broad.mit.edu	37	6	33134291	33134291	+	Splice_Site	SNP	G	G	C			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr6:33134291G>C	ENST00000374708.4	-	58	4391	c.4133C>G	c.(4132-4134)cCc>cGc	p.P1378R	COL11A2_ENST00000374714.1_Splice_Site_p.P1438R|COL11A2_ENST00000357486.1_Splice_Site_p.P1443R|COL11A2_ENST00000341947.2_Splice_Site_p.P1464R|COL11A2_ENST00000374713.1_Splice_Site_p.P1417R|COL11A2_ENST00000361917.1_Splice_Site_p.P1357R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Splice_Site_p.P1383R|COL11A2_ENST00000395197.1_Splice_Site_p.P1404R	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1464	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGTACTCACGGGGAGGCCGGG	0.612																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.e60+1		collagen, type XI, alpha 2							57.0	53.0	54.0					6																	33134291		2203	4300	6503	SO:0001630	splice_region_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33134291G>C	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4134+1C>G	6.37:g.33134291G>C						COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Splice_Site_p.P1383_splice|COL11A2_ENST00000374713.1_Splice_Site_p.P1417_splice|COL11A2_ENST00000395197.1_Splice_Site_p.P1404_splice|COL11A2_ENST00000361917.1_Splice_Site_p.P1357_splice|COL11A2_ENST00000357486.1_Splice_Site_p.P1443_splice|COL11A2_ENST00000374714.1_Splice_Site_p.P1438_splice|COL11A2_ENST00000374708.4_Splice_Site_p.P1378_splice	p.P1464_splice	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			60	4618	-			1464			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Splice_Site	SNP	ENST00000374708.4	37	c.4392_splice	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847618	0.51164	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09	3.59	3.59	0.41128	.	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	L	0.46614	1.455	0.58432	D	0.999998	P;P;P	0.44946	0.815;0.815;0.846	B;B;P	0.46718	0.39;0.39;0.525	D	0.93580	0.6912	10	0.54805	T	0.06	.	12.7437	0.57268	0.0:0.0:1.0:0.0	.	1357;1378;1464	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	R	1378;1464;1443;1438;1417;1404;1383;1357	ENSP00000363840:P1378R;ENSP00000339915:P1464R;ENSP00000350079:P1443R;ENSP00000363846:P1438R;ENSP00000363845:P1417R;ENSP00000378623:P1404R;ENSP00000363844:P1383R;ENSP00000355123:P1357R	ENSP00000339915:P1464R	P	-	2	0	COL11A2	33242269	1.000000	0.71417	0.983000	0.44433	0.193000	0.23685	4.381000	0.59587	1.842000	0.53543	0.448000	0.29417	CCC		0.612	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		Missense_Mutation	3	42	0	0	0	1	0	3	42				
ING1	3621	broad.mit.edu	37	13	111366587	111366587	+	5'Flank	SNP	C	C	G			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr13:111366587C>G	ENST00000375774.3	+	0	0				CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000375775.3_Intron|ING1_ENST00000333219.7_Missense_Mutation_p.Q31E|ING1_ENST00000338450.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1						cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTTCGACTTGCAGAGAAATGT	0.627																																						ENST00000333219.7																			0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(91-93)Cag>Gag		inhibitor of growth family, member 1							79.0	62.0	68.0					13																	111366587		2203	4300	6503	SO:0001631	upstream_gene_variant	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111366587C>G		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346		13.37:g.111366587C>G	Exception_encountered					ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron	p.Q31E	NM_001267728.1|NM_198219.2	NP_001254657.1|NP_937862.1	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	963	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		0					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.91C>G	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067301	0.55539	.	.	ENSG00000153487	ENST00000333219	.	.	.	3.29	3.29	0.37713	.	.	.	.	.	T	0.61702	0.2368	M	0.73217	2.22	0.80722	D	1	B	0.25719	0.132	B	0.25614	0.062	T	0.64647	-0.6358	8	0.48119	T	0.1	.	14.5205	0.67847	0.0:1.0:0.0:0.0	.	31	Q5T9H0	.	E	31	.	ENSP00000328436:Q31E	Q	+	1	0	ING1	110164588	1.000000	0.71417	0.976000	0.42696	0.024000	0.10985	6.600000	0.74132	1.375000	0.46248	0.561000	0.74099	CAG		0.627	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		12	34	0	0	0	1	0	12	34				
GCKR	2646	broad.mit.edu	37	2	27728649	27728649	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr2:27728649C>G	ENST00000264717.2	+	10	878	c.815C>G	c.(814-816)aCc>aGc	p.T272S	GCKR_ENST00000424318.2_Missense_Mutation_p.T82S	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	272	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CTGCTGGAAACCCTGTTATTA	0.542																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(814-816)aCc>aGc		glucokinase (hexokinase 4) regulator							108.0	98.0	101.0					2																	27728649		2203	4300	6503	SO:0001583	missense	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27728649C>G	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.815C>G	2.37:g.27728649C>G	ENSP00000264717:p.Thr272Ser					GCKR_ENST00000424318.2_Missense_Mutation_p.T82S	p.T272S	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			10	878	+	Acute lymphoblastic leukemia(172;0.155)		272			SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	c.815C>G	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163871	0.57476	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	T;T	0.60920	0.15;0.96	3.88	3.88	0.44766	Sugar isomerase (SIS) (1);	0.336772	0.28187	N	0.016264	T	0.62478	0.2431	L	0.43152	1.355	0.28847	N	0.896271	D;P;P	0.55800	0.973;0.928;0.798	P;B;P	0.56088	0.791;0.441;0.511	T	0.60821	-0.7187	10	0.66056	D	0.02	-8.9497	13.7334	0.62802	0.0:1.0:0.0:0.0	.	82;272;272	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	S	272;82	ENSP00000264717:T272S;ENSP00000409109:T82S	ENSP00000264717:T272S	T	+	2	0	GCKR	27582153	0.956000	0.32656	1.000000	0.80357	0.991000	0.79684	1.324000	0.33712	2.162000	0.67917	0.655000	0.94253	ACC		0.542	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		5	65	0	0	0	1	0	5	65				
PHB	5245	broad.mit.edu	37	17	47486440	47486440	+	Silent	SNP	G	G	A	rs201875820		TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr17:47486440G>A	ENST00000300408.3	-	5	546	c.474C>T	c.(472-474)gcC>gcT	p.A158A	PHB_ENST00000511832.1_Intron|PHB_ENST00000508009.1_5'UTR|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	158					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CAAAGGTGGCGGCTCGCTCTG	0.587																																						ENST00000300408.3																			0				endometrium(4)|large_intestine(2)|lung(4)	10						c.(472-474)gcC>gcT		prohibitin							73.0	69.0	70.0					17																	47486440		2203	4300	6503	SO:0001819	synonymous_variant	5245				cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding	g.chr17:47486440G>A		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.474C>T	17.37:g.47486440G>A						RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron|PHB_ENST00000508009.1_5'UTR	p.A158A	NM_002634.2	NP_002625.1	P35232	PHB_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		5	546	-	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		158					B4DY47|Q4VBQ0	Silent	SNP	ENST00000300408.3	37	c.474C>T	CCDS11548.1																																																																																				0.587	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1	NM_002634		11	41	0	0	0	1	0	11	41				
KIAA1324	57535	broad.mit.edu	37	1	109656849	109656849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr1:109656849delG	ENST00000369939.3	+	1	227	c.44delG	c.(43-45)aggfs	p.R15fs	C1orf194_ENST00000369948.3_5'Flank|KIAA1324_ENST00000529753.1_Frame_Shift_Del_p.R15fs|C1orf194_ENST00000369949.4_5'Flank|C1orf194_ENST00000369945.3_5'Flank	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	15					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCCAGAGTCAGGGGAAGAACT	0.662																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(43-45)agfs		KIAA1324							22.0	24.0	23.0					1																	109656849		2201	4300	6501	SO:0001589	frameshift_variant	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109656849delG	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.44delG	1.37:g.109656849delG	ENSP00000358955:p.Arg15fs					KIAA1324_ENST00000529753.1_Frame_Shift_Del_p.R15fs	p.R15fs	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	1	227	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	15					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Frame_Shift_Del	DEL	ENST00000369939.3	37	c.44delG	CCDS794.1																																																																																				0.662	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		2	4						2	4	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	T	rs72390141|rs71539975		TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr7:6775132_6775133insT	ENST00000486256.1	+	0	833					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GGTCATGTAAGTTTTTTTTTTT	0.401																																						ENST00000486256.1																			0																																																			441194							g.chr7:6775132_6775133insT	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6775143_6775143dupT								NR_002217.1						0	833	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.401	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		3	6						3	6	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145000031	145000031	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr8:145000031delC	ENST00000322810.4	-	31	4646	c.4477delG	c.(4477-4479)gcafs	p.A1493fs	PLEC_ENST00000345136.3_Frame_Shift_Del_p.A1356fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.A1383fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.A1334fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.A1360fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.A1356fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.A1342fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.A1324fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.A1379fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1493	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCCTCTGCCCGCTGCTGC	0.701																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(4477-4479)cafs		plectin							2.0	3.0	3.0					8																	145000031		1651	3374	5025	SO:0001589	frameshift_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145000031delC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4477delG	8.37:g.145000031delC	ENSP00000323856:p.Ala1493fs					PLEC_ENST00000436759.2_Frame_Shift_Del_p.A1383fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.A1356fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.A1342fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.A1379fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.A1360fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.A1324fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.A1356fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.A1334fs	p.A1493fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	4646	-			1493			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Del	DEL	ENST00000322810.4	37	c.4477delG	CCDS43772.1																																																																																				0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		2	4						2	4	---	---	---	---
PHOSPHO1	162466	broad.mit.edu	37	17	47302390	47302392	+	Intron	DEL	AGG	AGG	-	rs146708566		TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr17:47302390_47302392delAGG	ENST00000310544.4	-	3	173				PHOSPHO1_ENST00000413580.1_In_Frame_Del_p.S32del|PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.S32del			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1						bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	ggagagcagcaggaggaggagga	0.7																																						ENST00000413580.1																			0											c.(94-99)tgc>t		phosphatase, orphan 1	Choline(DB00122)		,	46,3118		1,44,1537					,	-2.0	0.2		dbSNP_134	3	213,6201		29,155,3023	no	intron,coding	PHOSPHO1	NM_178500.3,NM_001143804.1	,	30,199,4560	A1A1,A1R,RR		3.3209,1.4539,2.7041	,	,		259,9319				SO:0001627	intron_variant	162466				regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity	g.chr17:47302390_47302392delAGG	AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.46-24CCT>-	17.37:g.47302399_47302401delAGG						PHOSPHO1_ENST00000310544.4_Intron|PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.SC32del	p.SC32del	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		3	512_514	-			0					E9PAM0|Q17RU6	In_Frame_Del	DEL	ENST00000310544.4	37	c.95_97delCCT	CCDS11547.1																																																																																				0.700	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364467.2			3	5						3	5	---	---	---	---
CTD-2369P2.5	0	broad.mit.edu	37	19	10377498	10377498	+	RNA	DEL	T	T	-	rs554336674		TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr19:10377498delT	ENST00000592893.1	-	0	141																											TCCATAGCCCTTTTTTTTTCC	0.428																																						ENST00000592893.1																			0																																																			0							g.chr19:10377498delT																													19.37:g.10377498delT														0	141	-									RNA	DEL	ENST00000592893.1	37																																																																																						0.428	CTD-2369P2.5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000451205.1			3	6						3	6	---	---	---	---
KANTR	102723508	broad.mit.edu	37	X	53142506	53142507	+	lincRNA	INS	-	-	A	rs372497626		TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chrX:53142506_53142507insA	ENST00000604849.1	+	0	96																											AAAACACACACACAAAAAAAAA	0.356													|||unknown(STR2?)	311	0.0823841	0.0265	0.0346	3775	,	,		12801	0.0565		0.1163	False		,,,				2504	0.0798					ENST00000604849.1																			0																																																			102723508							g.chrX:53142506_53142507insA																													X.37:g.53142507_53142507dupA														0	96	+									RNA	INS	ENST00000604849.1	37																																																																																						0.356	RP11-258C19.5-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468382.1			3	4						3	4	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105149314	105149314	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chrX:105149314delC	ENST00000243300.9	+	10	1126	c.823delC	c.(823-825)cccfs	p.P275fs	NRK_ENST00000428173.2_Frame_Shift_Del_p.P275fs	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAATCTGCTCCCACAGTCAA	0.368										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(823-825)ccfs		Nik related kinase							133.0	111.0	118.0					X																	105149314		1864	4080	5944	SO:0001589	frameshift_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105149314delC	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.823delC	X.37:g.105149314delC	ENSP00000434830:p.Pro275fs	HNSCC(51;0.14)				NRK_ENST00000243300.9_Frame_Shift_Del_p.P275fs	p.P275fs			Q7Z2Y5	NRK_HUMAN			10	1126	+			275			Protein kinase.		Q32ND6|Q5H9K2|Q6ZMP2	Frame_Shift_Del	DEL	ENST00000243300.9	37	c.823delC																																																																																					0.368	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		2	4						2	4	---	---	---	---
