#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			5	56	0	0	0	0.000602	0	5	56				
APBB1	322	broad.mit.edu	37	11	6422254	6422254	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr11:6422254T>C	ENST00000609360.1	-	12	1736	c.1637A>G	c.(1636-1638)tAt>tGt	p.Y546C	APBB1_ENST00000608394.1_Missense_Mutation_p.Y287C|APBB1_ENST00000389906.2_Missense_Mutation_p.Y546C|APBB1_ENST00000608655.1_Missense_Mutation_p.Y326C|APBB1_ENST00000608704.1_Missense_Mutation_p.Y287C|APBB1_ENST00000529519.1_Missense_Mutation_p.Y71C|APBB1_ENST00000609331.1_Missense_Mutation_p.Y311C|APBB1_ENST00000299402.6_Missense_Mutation_p.Y544C|APBB1_ENST00000608645.1_Missense_Mutation_p.Y287C|APBB1_ENST00000530885.1_Missense_Mutation_p.Y324C|APBB1_ENST00000311051.3_Missense_Mutation_p.Y544C	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	546	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCCAGGTAATAGACTTGGAA	0.498																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1636-1638)tAt>tGt		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							267.0	270.0	269.0					11																	6422254		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6422254T>C	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1637A>G	11.37:g.6422254T>C	ENSP00000477213:p.Tyr546Cys					APBB1_ENST00000299402.6_Missense_Mutation_p.Y544C|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.Y544C|APBB1_ENST00000530885.1_Missense_Mutation_p.Y324C	p.Y546C	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	11	1736	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	546			PID 2.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1637A>G		.	.	.	.	.	.	.	.	.	.	T	13.55	2.272053	0.40194	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	4.88	4.88	0.63580	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000002	T	0.30230	0.0758	L	0.36672	1.1	0.42866	D	0.994123	D;D;D	0.76494	0.998;0.997;0.999	D;P;D	0.66847	0.947;0.905;0.932	T	0.03221	-1.1059	10	0.40728	T	0.16	-9.7275	7.9293	0.29893	0.1829:0.0:0.0:0.8171	.	546;324;544	O00213;B7Z2Y0;O00213-2	APBB1_HUMAN;.;.	C	544;544;546;395;287;311;324	ENSP00000299402:Y544C;ENSP00000311912:Y544C;ENSP00000374556:Y546C;ENSP00000433338:Y324C	ENSP00000299402:Y544C	Y	-	2	0	APBB1	6378830	0.947000	0.32204	1.000000	0.80357	0.999000	0.98932	1.628000	0.37060	2.051000	0.60960	0.528000	0.53228	TAT		0.498	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		156	177	0	0	0	0.003610	0	156	177				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	19	0	0	0	0.000602	0	3	19				
MED16	10025	broad.mit.edu	37	19	889754	889754	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr19:889754C>T	ENST00000589119.1	-	3	330	c.331G>A	c.(331-333)Gcg>Acg	p.A111T	MED16_ENST00000312090.6_Missense_Mutation_p.A111T|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Missense_Mutation_p.A111T|MED16_ENST00000269814.4_Missense_Mutation_p.A111T|MED16_ENST00000325464.1_Missense_Mutation_p.A111T			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	111					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGTCCGCCATGCTCCAG	0.617																																						ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(331-333)Gcg>Acg		mediator complex subunit 16							53.0	40.0	45.0					19																	889754		2202	4300	6502	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:889754C>T	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.331G>A	19.37:g.889754C>T	ENSP00000464810:p.Ala111Thr					MED16_ENST00000395808.3_Missense_Mutation_p.A111T|MED16_ENST00000269814.4_Missense_Mutation_p.A111T|MED16_ENST00000325464.1_Missense_Mutation_p.A111T|MED16_ENST00000589119.1_Missense_Mutation_p.A111T|MED16_ENST00000606828.1_Intron	p.A111T			Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	481	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	111					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.331G>A	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168109	0.38315	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	4.03	2.86	0.33363	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.425849	0.24930	N	0.034465	T	0.03136	0.0092	N	0.02539	-0.55	0.28557	N	0.91132	B;B;B;B;B	0.10296	0.003;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.0;0.0;0.001;0.001	T	0.38520	-0.9657	10	0.16420	T	0.52	-2.9385	3.9938	0.09549	0.2232:0.5611:0.0:0.2157	.	111;111;111;111;111	B9TX03;Q9Y2X0-2;E7ETV0;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	T	111	ENSP00000325612:A111T;ENSP00000308528:A111T;ENSP00000379153:A111T;ENSP00000269814:A111T	ENSP00000269814:A111T	A	-	1	0	MED16	840754	1.000000	0.71417	0.988000	0.46212	0.918000	0.54935	1.158000	0.31737	1.814000	0.52955	0.491000	0.48974	GCG		0.617	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		5	12	0	0	0	0.001168	0	5	12				
RGL4	266747	broad.mit.edu	37	22	24034592	24034592	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr22:24034592T>C	ENST00000290691.5	+	2	1420	c.250T>C	c.(250-252)Tca>Cca	p.S84P	AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_5'UTR|KB-1572G7.2_ENST00000421064.1_RNA|GUSBP11_ENST00000455485.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	84					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CCCGCAACGGTCATCTTTCCG	0.542																																						ENST00000290691.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						c.(250-252)Tca>Cca		ral guanine nucleotide dissociation stimulator-like 4							163.0	161.0	162.0					22																	24034592		2203	4300	6503	SO:0001583	missense	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24034592T>C		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.250T>C	22.37:g.24034592T>C	ENSP00000290691:p.Ser84Pro					GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_5'UTR	p.S84P	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN			2	1420	+			84					Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	c.250T>C	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	t	4.850	0.158027	0.09236	.	.	ENSG00000159496	ENST00000290691;ENST00000382833;ENST00000423392	T;T	0.58060	0.36;0.36	2.03	-4.07	0.03975	.	1.133490	0.06796	N	0.787811	T	0.43722	0.1260	L	0.29908	0.895	0.09310	N	1	D;D	0.71674	0.996;0.998	D;D	0.65010	0.931;0.914	T	0.42172	-0.9467	10	0.02654	T	1	.	0.305	0.00279	0.3949:0.192:0.1533:0.2598	.	84;84	E9PH87;Q8IZJ4	.;RGDSR_HUMAN	P	84	ENSP00000290691:S84P;ENSP00000402142:S84P	ENSP00000290691:S84P	S	+	1	0	RGL4	22364592	0.012000	0.17670	0.000000	0.03702	0.000000	0.00434	0.617000	0.24359	-1.285000	0.02387	-0.427000	0.05922	TCA		0.542	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		4	171	0	0	0	0.000248	0	4	171				
PLA1A	51365	broad.mit.edu	37	3	119336952	119336952	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr3:119336952C>T	ENST00000273371.4	+	7	913	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	PLA1A_ENST00000495992.1_Missense_Mutation_p.P265S|PLA1A_ENST00000488919.1_Missense_Mutation_p.P108S|PLA1A_ENST00000494440.1_Missense_Mutation_p.P265S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	281					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATGGCCTTTCCCTGTGCCAG	0.498																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(841-843)Ccc>Tcc		phospholipase A1 member A							314.0	300.0	305.0					3																	119336952		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119336952C>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.841C>T	3.37:g.119336952C>T	ENSP00000273371:p.Pro281Ser					PLA1A_ENST00000494440.1_Missense_Mutation_p.P265S|PLA1A_ENST00000488919.1_Missense_Mutation_p.P108S|PLA1A_ENST00000495992.1_Missense_Mutation_p.P265S	p.P281S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			7	913	+			281					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.841C>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798465	0.90538	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440;ENST00000475963	D;D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92;-2.92	5.26	5.26	0.73747	Lipase, N-terminal (1);	0.104023	0.64402	D	0.000002	D	0.95182	0.8438	M	0.64630	1.985	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94937	0.8088	10	0.49607	T	0.09	-22.2552	16.6467	0.85178	0.0:1.0:0.0:0.0	.	265;281	Q53H76-3;Q53H76	.;PLA1A_HUMAN	S	281;108;265;265;147	ENSP00000273371:P281S;ENSP00000420625:P108S;ENSP00000417326:P265S;ENSP00000418793:P265S;ENSP00000417295:P147S	ENSP00000273371:P281S	P	+	1	0	PLA1A	120819642	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.373000	0.79623	2.465000	0.83290	0.555000	0.69702	CCC		0.498	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			26	318	0	0	0	0.005443	0	26	318				
SPIDR	23514	broad.mit.edu	37	8	48625364	48625364	+	Silent	SNP	T	T	C			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr8:48625364T>C	ENST00000297423.4	+	15	2502	c.2118T>C	c.(2116-2118)tcT>tcC	p.S706S	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Silent_p.S636S|SPIDR_ENST00000517693.1_Silent_p.S181S|SPIDR_ENST00000518074.1_Silent_p.S646S	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	706					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											TGCTGGGCTCTGAAGTCCTGG	0.597																																						ENST00000297423.4																			0											c.(2116-2118)tcT>tcC		scaffolding protein involved in DNA repair							79.0	90.0	86.0					8																	48625364		2068	4195	6263	SO:0001819	synonymous_variant	23514							g.chr8:48625364T>C	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.2118T>C	8.37:g.48625364T>C						SPIDR_ENST00000541342.1_Silent_p.S636S|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Silent_p.S181S|SPIDR_ENST00000518074.1_Silent_p.S646S	p.S706S	NM_001080394.2	NP_001073863.1					15	2502	+								B4DFV2|B4E0Y6|Q96BI5	Silent	SNP	ENST00000297423.4	37	c.2118T>C	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	T	0.426	-0.905652	0.02453	.	.	ENSG00000164808	ENST00000519401	.	.	.	5.52	-11.0	0.00169	.	.	.	.	.	T	0.32406	0.0828	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.40869	-0.9540	4	.	.	.	.	2.7776	0.05352	0.1816:0.0791:0.3438:0.3954	.	.	.	.	P	388	.	.	L	+	2	0	KIAA0146	48787917	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.589000	0.05767	-1.835000	0.01191	-1.096000	0.02151	CTG		0.597	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		3	101	0	0	0	0.000248	0	3	101				
PHF7	51533	broad.mit.edu	37	3	52454958	52454958	+	Silent	SNP	A	A	G			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr3:52454958A>G	ENST00000327906.3	+	7	1113	c.453A>G	c.(451-453)caA>caG	p.Q151Q	PHF7_ENST00000347025.2_Silent_p.Q151Q	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	151						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AGAACATCCAACATGGGCATG	0.468																																						ENST00000327906.3																			0				breast(2)|large_intestine(4)|lung(3)	9						c.(451-453)caA>caG		PHD finger protein 7							170.0	155.0	160.0					3																	52454958		2203	4300	6503	SO:0001819	synonymous_variant	51533					nucleus	zinc ion binding	g.chr3:52454958A>G	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.453A>G	3.37:g.52454958A>G						PHF7_ENST00000347025.2_Silent_p.Q151Q|PHF7_ENST00000478707.1_Silent_p.Q151Q	p.Q151Q	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	7	1113	+			151					K4DI82	Silent	SNP	ENST00000327906.3	37	c.453A>G	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	A	0.991	-0.693984	0.03303	.	.	ENSG00000010318	ENST00000454052;ENST00000461861	.	.	.	5.8	-9.83	0.00482	.	.	.	.	.	T	0.21550	0.0519	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.36040	-0.9764	5	0.62326	D	0.03	-1.0853	0.5498	0.00661	0.2029:0.2047:0.2783:0.3141	.	.	.	.	S	116;111	.	ENSP00000399257:N116S	N	+	2	0	PHF7	52429998	0.001000	0.12720	0.000000	0.03702	0.428000	0.31595	-0.562000	0.05950	-1.811000	0.01229	0.459000	0.35465	AAC		0.468	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		44	61	0	0	0	0.002222	0	44	61				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000464581.1_5'Flank|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_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	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		5	69	0	0	0	0.000978	0	5	69				
ZNF700	90592	broad.mit.edu	37	19	12059975	12059975	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr19:12059975C>A	ENST00000254321.5	+	4	1279	c.1136C>A	c.(1135-1137)aCa>aAa	p.T379K	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.T361K|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCATTTCAAACACATGAAAAA	0.353																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1081-1083)aCa>aAa		zinc finger protein 700							52.0	56.0	55.0					19																	12059975		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059975C>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1136C>A	19.37:g.12059975C>A	ENSP00000254321:p.Thr379Lys					ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.T379K|ZNF763_ENST00000591944.1_Intron	p.T361K			Q9H0M5	ZN700_HUMAN			3	1500	+			379					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1082C>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.595136	0.00008	.	.	ENSG00000196757	ENST00000254321	T	0.07216	3.21	0.672	-1.34	0.09143	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02047	0.0064	N	0.02129	-0.67	0.09310	N	1	B	0.30455	0.28	B	0.32090	0.14	T	0.27297	-1.0078	9	0.05721	T	0.95	.	0.7673	0.01017	0.2:0.3636:0.2002:0.2362	.	379	Q9H0M5	ZN700_HUMAN	K	379	ENSP00000254321:T379K	ENSP00000254321:T379K	T	+	2	0	ZNF700	11920975	0.000000	0.05858	0.002000	0.10522	0.153000	0.21895	-5.433000	0.00123	-2.720000	0.00389	-1.865000	0.00557	ACA		0.353	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		3	64	1	0	0.004672	0.004672	0.00563862	3	64				
FAM179B	23116	broad.mit.edu	37	14	45542645	45542645	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr14:45542645T>C	ENST00000361577.3	+	19	5258	c.5044T>C	c.(5044-5046)Tca>Cca	p.S1682P	FAM179B_ENST00000361462.2_Missense_Mutation_p.S1735P|FAM179B_ENST00000382233.2_3'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1682										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGCTAAATTATCAAAAGCACT	0.408																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(5203-5205)Tca>Cca		family with sequence similarity 179, member B							118.0	118.0	118.0					14																	45542645		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45542645T>C	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.5044T>C	14.37:g.45542645T>C	ENSP00000355045:p.Ser1682Pro					FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.S1682P	p.S1735P			Q9Y4F4	F179B_HUMAN			20	5386	+			1682					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.5203T>C	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.352243	0.41700	.	.	ENSG00000198718	ENST00000361577;ENST00000361462;ENST00000556823	T;T;T	0.64618	2.21;-0.11;2.59	5.78	5.78	0.91487	Armadillo-type fold (1);	0.132092	0.53938	D	0.000049	T	0.71753	0.3377	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.988;0.998	P;D	0.65323	0.889;0.934	T	0.73183	-0.4063	10	0.54805	T	0.06	-14.3475	14.332	0.66564	0.0:0.0:0.0:1.0	.	1735;1682	G3XAE9;Q9Y4F4	.;F179B_HUMAN	P	1682;1735;117	ENSP00000355045:S1682P;ENSP00000354917:S1735P;ENSP00000450465:S117P	ENSP00000354917:S1735P	S	+	1	0	FAM179B	44612395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.555000	0.45854	2.210000	0.71456	0.533000	0.62120	TCA		0.408	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		9	44	0	0	0	0.008291	0	9	44				
EXT1	2131	broad.mit.edu	37	8	118817027	118817027	+	Silent	SNP	A	A	G			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr8:118817027A>G	ENST00000378204.2	-	10	2795	c.1989T>C	c.(1987-1989)gcT>gcC	p.A663A		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	663					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			ATTTTGTCACAGCAGACACCA	0.468			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"""Mis, N, F, S"""	multiple exostoses type 1 gene			M		"""exostoses, osteosarcoma"""			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(1987-1989)gcT>gcC		exostosin glycosyltransferase 1							205.0	189.0	194.0					8																	118817027		2203	4300	6503	SO:0001819	synonymous_variant	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118817027A>G	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1989T>C	8.37:g.118817027A>G							p.A663A	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		10	2795	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		663					B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	c.1989T>C	CCDS6324.1																																																																																				0.468	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		17	69	0	0	0	0.004990	0	17	69				
USP51	158880	broad.mit.edu	37	X	55514742	55514742	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chrX:55514742G>C	ENST00000500968.3	-	2	713	c.631C>G	c.(631-633)Ctg>Gtg	p.L211V	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	211					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATCAACCTCAGGTTCTTCTGC	0.502																																						ENST00000500968.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(631-633)Ctg>Gtg		ubiquitin specific peptidase 51							77.0	63.0	68.0					X																	55514742		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55514742G>C	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.631C>G	X.37:g.55514742G>C	ENSP00000423333:p.Leu211Val					USP51_ENST00000586165.1_Intron	p.L211V	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN			2	713	-			211					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.631C>G	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	12.19	1.862429	0.32884	.	.	ENSG00000247746	ENST00000500968	T	0.62788	-0.0	2.93	2.07	0.26955	Zinc finger, RING/FYVE/PHD-type (1);	0.182827	0.27677	U	0.018319	T	0.49949	0.1587	L	0.34521	1.04	0.42954	D	0.994384	P	0.47484	0.896	P	0.44732	0.459	T	0.48151	-0.9060	10	0.54805	T	0.06	.	7.4429	0.27194	0.1426:0.0:0.8574:0.0	.	211	Q70EK9	UBP51_HUMAN	V	211	ENSP00000423333:L211V	ENSP00000423333:L211V	L	-	1	2	USP51	55531467	1.000000	0.71417	0.291000	0.24904	0.800000	0.45204	5.107000	0.64603	0.644000	0.30656	-0.329000	0.08387	CTG		0.502	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		6	36	0	0	0	0.001168	0	6	36				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Silent_p.S281S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	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.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			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			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(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.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	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.chr22:29091841G>A	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.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	71	0	0	0	0.000978	0	6	71				
RPL22L1	200916	broad.mit.edu	37	3	170586127	170586127	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr3:170586127G>T	ENST00000295830.8	-	2	377	c.62C>A	c.(61-63)aCt>aAt	p.T21N	RPL22L1_ENST00000463836.1_Missense_Mutation_p.T20N	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	21					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TACTGGATGAGTAAGGTCCAA	0.313																																						ENST00000295830.8																			0				kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4						c.(61-63)aCt>aAt		ribosomal protein L22-like 1							54.0	55.0	55.0					3																	170586127		1797	4074	5871	SO:0001583	missense	200916				translation	ribosome	structural constituent of ribosome	g.chr3:170586127G>T	BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.62C>A	3.37:g.170586127G>T	ENSP00000346080:p.Thr21Asn					RPL22L1_ENST00000463836.1_Missense_Mutation_p.T20N	p.T21N	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		2	377	-	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		21					Q32Q77	Missense_Mutation	SNP	ENST00000295830.8	37	c.62C>A	CCDS46955.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211042	0.95069	.	.	ENSG00000163584	ENST00000295830;ENST00000466674;ENST00000463836	T;T;T	0.47528	0.84;0.84;0.84	5.77	5.77	0.91146	.	0.049077	0.85682	D	0.000000	T	0.70979	0.3286	M	0.89785	3.06	0.80722	D	1	P	0.52316	0.952	P	0.53954	0.738	T	0.76995	-0.2752	10	0.72032	D	0.01	.	19.9835	0.97338	0.0:0.0:1.0:0.0	.	21	Q6P5R6	RL22L_HUMAN	N	21;41;20	ENSP00000346080:T21N;ENSP00000419713:T41N;ENSP00000419041:T20N	ENSP00000346080:T21N	T	-	2	0	RPL22L1	172068821	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.629000	0.67798	2.726000	0.93360	0.655000	0.94253	ACT		0.313	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2	XM_114317		19	25	1	0	0.000229342	0.001882	0.000286677	19	25				
PIK3C2A	5286	broad.mit.edu	37	11	17190952	17190952	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr11:17190952T>G	ENST00000265970.7	-	1	336	c.337A>C	c.(337-339)Aaa>Caa	p.K113Q	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	113	Interaction with clathrin; sufficient to induce clathrin assemby.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						ACAGGTGTTTTTTTAGTCTCG	0.403																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(337-339)Aaa>Caa		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						127.0	124.0	125.0					11																	17190952		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17190952T>G	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.337A>C	11.37:g.17190952T>G	ENSP00000265970:p.Lys113Gln					PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	p.K113Q	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			1	336	-			113			Interaction with clathrin.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.337A>C	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961888	0.53400	.	.	ENSG00000011405	ENST00000265970;ENST00000544896;ENST00000532035	T	0.65549	-0.16	5.53	5.53	0.82687	.	0.194123	0.53938	D	0.000041	T	0.55561	0.1928	L	0.32530	0.975	0.80722	D	1	P;B	0.41188	0.741;0.058	B;B	0.40940	0.344;0.03	T	0.61292	-0.7092	10	0.66056	D	0.02	-6.4394	15.6399	0.76989	0.0:0.0:0.0:1.0	.	113;113	F5H5W9;O00443	.;P3C2A_HUMAN	Q	113	ENSP00000265970:K113Q	ENSP00000265970:K113Q	K	-	1	0	PIK3C2A	17147528	1.000000	0.71417	0.962000	0.40283	0.984000	0.73092	4.523000	0.60545	2.094000	0.63399	0.482000	0.46254	AAA		0.403	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		12	133	0	0	0	0.001855	0	12	133				
PLD5	200150	broad.mit.edu	37	1	242428743	242428743	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr1:242428743C>T	ENST00000536534.2	-	4	744	c.503G>A	c.(502-504)cGt>cAt	p.R168H	PLD5_ENST00000442594.2_Missense_Mutation_p.R76H|PLD5_ENST00000474177.1_5'Flank|PLD5_ENST00000427495.1_Missense_Mutation_p.R106H			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	168						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTCAAAAAGACGTTGACCCTG	0.313																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(226-228)cGt>cAt		phospholipase D family, member 5							46.0	43.0	44.0					1																	242428743		2202	4300	6502	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242428743C>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.503G>A	1.37:g.242428743C>T	ENSP00000440896:p.Arg168His					PLD5_ENST00000536534.1_Missense_Mutation_p.R168H|PLD5_ENST00000427495.1_Missense_Mutation_p.R106H	p.R76H	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		5	736	-	Melanoma(84;0.242)		168					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.227G>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618876	0.46736	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	T;T;T;T	0.44881	2.47;2.47;2.47;0.91	5.55	4.64	0.57946	.	0.233908	0.45867	D	0.000327	T	0.29914	0.0748	N	0.25890	0.77	0.42055	D	0.991136	B;B;B	0.21381	0.025;0.04;0.055	B;B;B	0.14578	0.005;0.003;0.011	T	0.08472	-1.0720	10	0.42905	T	0.14	-5.6817	11.6272	0.51153	0.0:0.9169:0.0:0.0831	.	76;168;106	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	H	106;76;168;106	ENSP00000401285:R106H;ENSP00000414188:R76H;ENSP00000440896:R168H;ENSP00000438191:R106H	ENSP00000401285:R106H	R	-	2	0	PLD5	240495366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.683000	0.37638	1.478000	0.48253	0.655000	0.94253	CGT		0.313	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		19	33	0	0	0	0.006122	0	19	33				
NBR1	4077	broad.mit.edu	37	17	41342634	41342634	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr17:41342634C>T	ENST00000422280.1	+	9	1163	c.704C>T	c.(703-705)cCa>cTa	p.P235L	NBR1_ENST00000341165.6_Missense_Mutation_p.P235L|NBR1_ENST00000590996.1_Missense_Mutation_p.P235L|NBR1_ENST00000589872.1_Missense_Mutation_p.P235L|NBR1_ENST00000542611.1_Missense_Mutation_p.P214L|NBR1_ENST00000389312.4_Missense_Mutation_p.P235L	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	235					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGCCTATGCCCATCCTACAAT	0.483																																						ENST00000422280.1																			0				NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(703-705)cCa>cTa		neighbor of BRCA1 gene 1							84.0	75.0	78.0					17																	41342634		1932	4145	6077	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41342634C>T	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.704C>T	17.37:g.41342634C>T	ENSP00000411250:p.Pro235Leu					NBR1_ENST00000341165.6_Missense_Mutation_p.P235L|NBR1_ENST00000590996.1_Missense_Mutation_p.P235L|NBR1_ENST00000589872.1_Missense_Mutation_p.P235L|NBR1_ENST00000542611.1_Missense_Mutation_p.P214L|NBR1_ENST00000389312.4_Missense_Mutation_p.P235L	p.P235L	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	9	1163	+		Breast(137;0.00086)	235					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.704C>T	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614392	0.87359	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.96	5.96	0.96718	Zinc finger, ZZ-type (4);	0.175668	0.50627	D	0.000104	D	0.95379	0.8500	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.993;0.977;0.993	D	0.95317	0.8417	10	0.66056	D	0.02	-10.685	15.1722	0.72884	0.1409:0.8591:0.0:0.0	.	235;214;235;235	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	L	235;214;235;235;235	ENSP00000411250:P235L;ENSP00000437545:P214L;ENSP00000343479:P235L;ENSP00000373963:P235L	ENSP00000343479:P235L	P	+	2	0	NBR1	38596160	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.978000	0.56881	2.832000	0.97577	0.655000	0.94253	CCA		0.483	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		4	10	0	0	0	0.000248	0	4	10				
PPP1R13B	23368	broad.mit.edu	37	14	104224043	104224043	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr14:104224043T>C	ENST00000202556.9	-	5	682	c.400A>G	c.(400-402)Atg>Gtg	p.M134V		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	134	Gln-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CTAGCTGCCATATCTTGGAGC	0.388																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(400-402)Atg>Gtg		protein phosphatase 1, regulatory subunit 13B							126.0	119.0	121.0					14																	104224043		1873	4101	5974	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104224043T>C	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.400A>G	14.37:g.104224043T>C	ENSP00000202556:p.Met134Val						p.M134V	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			5	682	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	134			Gln-rich.		B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.400A>G	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.535091	0.85812	.	.	ENSG00000088808	ENST00000202556;ENST00000380023;ENST00000555734	T;T	0.30182	1.54;1.54	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	L	0.60455	1.87	0.80722	D	1	P	0.40875	0.731	B	0.43950	0.437	T	0.29336	-1.0015	10	0.87932	D	0	.	16.3648	0.83312	0.0:0.0:0.0:1.0	.	134	Q96KQ4	ASPP1_HUMAN	V	134;1;131	ENSP00000202556:M134V;ENSP00000452376:M131V	ENSP00000202556:M134V	M	-	1	0	PPP1R13B	103293796	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	7.698000	0.84413	2.263000	0.75096	0.533000	0.62120	ATG		0.388	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		4	90	0	0	0	0.000248	0	4	90				
LOX	4015	broad.mit.edu	37	5	121409788	121409788	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr5:121409788G>A	ENST00000231004.4	-	4	1254	c.955C>T	c.(955-957)Cac>Tac	p.H319Y	LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	319	Lysyl-oxidase like.				blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		CTTGCTTTGTGGCCTTCAGCC	0.468																																						ENST00000231004.4																			0				endometrium(1)|lung(6)|prostate(1)	8						c.(955-957)Cac>Tac		lysyl oxidase							163.0	147.0	152.0					5																	121409788		2203	4300	6503	SO:0001583	missense	4015				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	g.chr5:121409788G>A		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.955C>T	5.37:g.121409788G>A	ENSP00000231004:p.His319Tyr					SRFBP1_ENST00000504881.1_Intron|LOX_ENST00000513319.1_5'UTR	p.H319Y	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)	4	1254	-		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	319			Lysyl-oxidase like.		B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	37	c.955C>T	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	G	32	5.187466	0.94923	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.39229	1.09	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79960	-0.1583	10	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	319	P28300	LYOX_HUMAN	Y	319;279	ENSP00000231004:H319Y	ENSP00000231004:H319Y	H	-	1	0	LOX	121437687	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	CAC		0.468	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			4	123	0	0	0	0.000248	0	4	123				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		32	29	0	0	0	0.003271	0	32	29				
PRPF8	10594	broad.mit.edu	37	17	1564570	1564570	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr17:1564570A>C	ENST00000572621.1	-	26	4598	c.4333T>G	c.(4333-4335)Tat>Gat	p.Y1445D	PRPF8_ENST00000304992.6_Missense_Mutation_p.Y1445D			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1445	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CATACCTGATACTGCTTAAAG	0.512																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4333-4335)Tat>Gat		pre-mRNA processing factor 8							136.0	121.0	126.0					17																	1564570		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1564570A>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4333T>G	17.37:g.1564570A>C	ENSP00000460348:p.Tyr1445Asp					PRPF8_ENST00000304992.6_Missense_Mutation_p.Y1445D	p.Y1445D			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	26	4598	-			1445					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.4333T>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	a	16.00	2.998001	0.54147	.	.	ENSG00000174231	ENST00000304992	D	0.85339	-1.97	6.17	6.17	0.99709	Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92512	0.7622	M	0.82517	2.595	0.80722	D	1	P	0.50272	0.933	P	0.62885	0.908	D	0.93222	0.6609	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1445	Q6P2Q9	PRP8_HUMAN	D	1445	ENSP00000304350:Y1445D	ENSP00000304350:Y1445D	Y	-	1	0	PRPF8	1511320	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.307000	0.96226	2.371000	0.80710	0.533000	0.62120	TAT		0.512	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			23	100	0	0	0	0.002780	0	23	100				
SPAM1	6677	broad.mit.edu	37	7	123599696	123599696	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr7:123599696C>G	ENST00000439500.1	+	6	1816	c.1203C>G	c.(1201-1203)aaC>aaG	p.N401K	SPAM1_ENST00000340011.5_Missense_Mutation_p.N401K|SPAM1_ENST00000402183.2_Missense_Mutation_p.N401K|SPAM1_ENST00000223028.7_Missense_Mutation_p.N401K|SPAM1_ENST00000460182.1_Missense_Mutation_p.N401K	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	401					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTCACCTCAACCCAGATAATT	0.403																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1201-1203)aaC>aaG		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						113.0	106.0	108.0					7																	123599696		2203	4300	6503	SO:0001583	missense	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123599696C>G	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1203C>G	7.37:g.123599696C>G	ENSP00000402123:p.Asn401Lys					SPAM1_ENST00000439500.1_Missense_Mutation_p.N401K|SPAM1_ENST00000223028.7_Missense_Mutation_p.N401K|SPAM1_ENST00000402183.2_Missense_Mutation_p.N401K|SPAM1_ENST00000460182.1_Missense_Mutation_p.N401K	p.N401K	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			5	1560	+			401					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.1203C>G	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373169	0.61624	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.77	2.98	0.34508	.	0.149680	0.64402	D	0.000015	T	0.64571	0.2610	M	0.88450	2.955	0.36960	D	0.893286	D;D	0.69078	0.997;0.997	D;D	0.67725	0.931;0.953	T	0.73097	-0.4090	10	0.72032	D	0.01	-39.8518	9.3841	0.38331	0.0:0.713:0.0:0.287	.	401;401	Q8TC30;P38567	.;HYALP_HUMAN	K	401	ENSP00000386028:N401K;ENSP00000417934:N401K;ENSP00000345849:N401K;ENSP00000402123:N401K;ENSP00000223028:N401K	ENSP00000223028:N401K	N	+	3	2	SPAM1	123386932	0.522000	0.26266	0.639000	0.29394	0.629000	0.37895	0.744000	0.26245	0.917000	0.36895	0.650000	0.86243	AAC		0.403	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			9	69	0	0	0	0.000978	0	9	69				
CFAP46	54777	broad.mit.edu	37	10	134743170	134743170	+	Silent	SNP	C	C	T	rs201055150		TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr10:134743170C>T	ENST00000368585.3	-	9	1343	c.1005G>A	c.(1003-1005)gcG>gcA	p.A335A	TTC40_ENST00000368586.5_Intron|TTC40_ENST00000368582.2_Intron																breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CGGTGAGCAGCGCCTCATCCC	0.557																																						ENST00000368585.3																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(1003-1005)gcG>gcA		tetratricopeptide repeat domain 40							136.0	125.0	128.0					10																	134743170		2203	4300	6503	SO:0001819	synonymous_variant	54777							g.chr10:134743170C>T																												ENST00000368585.3:c.1005G>A	10.37:g.134743170C>T						TTC40_ENST00000368586.5_Intron|TTC40_ENST00000368582.2_Intron	p.A335A			Q8IYW2	CJ092_HUMAN			9	1343	-			0						Silent	SNP	ENST00000368585.3	37	c.1005G>A																																																																																					0.557	TTC40-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000051099.1			12	85	0	0	0	0.001368	0	12	85				
ARSE	415	broad.mit.edu	37	X	2864076	2864076	+	Silent	SNP	C	C	A			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chrX:2864076C>A	ENST00000381134.3	-	7	1020	c.954G>T	c.(952-954)ctG>ctT	p.L318L	ARSE_ENST00000545496.1_Silent_p.L343L|ARSE_ENST00000540563.1_Silent_p.L273L	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	318					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGTCCCCATACAGCCCGTGGA	0.498																																						ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1027-1029)ctG>ctT		arylsulfatase E (chondrodysplasia punctata 1)							120.0	107.0	111.0					X																	2864076		2203	4300	6503	SO:0001819	synonymous_variant	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2864076C>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.954G>T	X.37:g.2864076C>A						ARSE_ENST00000381134.3_Silent_p.L318L|ARSE_ENST00000540563.1_Silent_p.L273L	p.L343L			P51690	ARSE_HUMAN			8	1320	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	318					Q53FT2|Q53FU8	Silent	SNP	ENST00000381134.3	37	c.1029G>T	CCDS14122.1																																																																																				0.498	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		44	63	1	0	2.77807e-22	0.003214	3.6012e-22	44	63				
MMP17	4326	broad.mit.edu	37	12	132334395	132334395	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr12:132334395C>T	ENST00000360564.1	+	9	1355	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	MMP17_ENST00000535291.1_Missense_Mutation_p.P334L|MMP17_ENST00000535004.1_Intron	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	418					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	GAAGGATACCCGCGCCCCGTC	0.617																																						ENST00000360564.1																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(1252-1254)cCg>cTg		matrix metallopeptidase 17 (membrane-inserted)							92.0	95.0	94.0					12																	132334395		2203	4300	6503	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132334395C>T	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1253C>T	12.37:g.132334395C>T	ENSP00000353767:p.Pro418Leu					MMP17_ENST00000535004.1_Intron|MMP17_ENST00000535291.1_Missense_Mutation_p.P334L	p.P418L	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	9	1355	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		418			Hemopexin-like 2.		Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.1253C>T	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800237	0.90538	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865;ENST00000542648	T;T;T;T	0.05513	3.43;3.43;3.43;3.43	4.48	4.48	0.54585	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.37156	0.0993	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.59021	-0.7532	10	0.87932	D	0	.	17.1756	0.86841	0.0:1.0:0.0:0.0	.	418	Q9ULZ9	MMP17_HUMAN	L	418;334;259;48	ENSP00000353767:P418L;ENSP00000441106:P334L;ENSP00000442104:P259L;ENSP00000439542:P48L	ENSP00000353767:P418L	P	+	2	0	MMP17	130900348	1.000000	0.71417	0.994000	0.49952	0.889000	0.51656	7.727000	0.84838	2.054000	0.61138	0.471000	0.43371	CCG		0.617	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		5	80	0	0	0	0.001168	0	5	80				
ITGA3	3675	broad.mit.edu	37	17	48156258	48156258	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr17:48156258G>A	ENST00000320031.8	+	19	2698	c.2368G>A	c.(2368-2370)Gat>Aat	p.D790N	ITGA3_ENST00000007722.7_Missense_Mutation_p.D790N	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	790					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AACTGTGGAGGATGTAGGAAG	0.517																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2368-2370)Gat>Aat		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							98.0	102.0	101.0					17																	48156258		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48156258G>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2368G>A	17.37:g.48156258G>A	ENSP00000315190:p.Asp790Asn					ITGA3_ENST00000007722.7_Missense_Mutation_p.D790N	p.D790N	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			19	2698	+			790					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.2368G>A	CCDS11558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.838836|4.838836	0.91117|0.91117	.|.	.|.	ENSG00000005884|ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031|ENST00000506827	T;T|.	0.56776|.	0.44;0.44|.	4.77|4.77	3.79|3.79	0.43588|0.43588	Integrin alpha-2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72503|0.72503	0.3468|0.3468	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.997|.	D;D|.	0.91635|.	0.999;0.936|.	T|T	0.73827|0.73827	-0.3860|-0.3860	10|5	0.54805|.	T|.	0.06|.	.|.	12.0629|12.0629	0.53572|0.53572	0.0858:0.0:0.9142:0.0|0.0858:0.0:0.9142:0.0	.|.	790;790|.	P26006-1;P26006|.	.;ITA3_HUMAN|.	N|E	790;776;790|168	ENSP00000007722:D790N;ENSP00000315190:D790N|.	ENSP00000007722:D790N|.	D|G	+|+	1|2	0|0	ITGA3|ITGA3	45511257|45511257	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.269000|5.269000	0.65542|0.65542	1.373000|1.373000	0.46208|0.46208	0.491000|0.491000	0.48974|0.48974	GAT|GGA		0.517	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		42	71	0	0	0	0.006999	0	42	71				
ODF1	4956	broad.mit.edu	37	8	103572989	103573015	+	In_Frame_Del	DEL	CCCCTGCAGCCCCTGCAGCCCCTGCAA	CCCCTGCAGCCCCTGCAGCCCCTGCAA	-	rs3018444|rs3018445|rs62523271|rs145490768|rs200370023|rs2916569|rs568456031|rs386728347|rs386728346	byFrequency	TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr8:103572989_103573015delCCCCTGCAGCCCCTGCAGCCCCTGCAA	ENST00000285402.3	+	2	786_812	c.630_656delCCCCTGCAGCCCCTGCAGCCCCTGCAA	c.(628-657)agcccctgcagcccctgcagcccctgcaac>agc	p.PCSPCSPCN211del	ODF1_ENST00000518835.1_Splice_Site_p.PCSPCSPCN4del	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	211	C-X-P repeat region.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.C218_P226delCNPCSPCNP(1)|p.P217P(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CTCCTtgcagcccctgcagcccctgcagcccctgcaacccctgcagc	0.555																																						ENST00000285402.3																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.C218_P226delCNPCSPCNP(1)|p.P217P(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(628-657)agc>ag		outer dense fiber of sperm tails 1																																				SO:0001651	inframe_deletion	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103572989_103573015delCCCCTGCAGCCCCTGCAGCCCCTGCAA	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.630_656delCCCCTGCAGCCCCTGCAGCCCCTGCAA	8.37:g.103572989_103573015delCCCCTGCAGCCCCTGCAGCCCCTGCAA	ENSP00000285402:p.Pro211_Asn219del					ODF1_ENST00000518835.1_Splice_Site_p.SPCSPCSPCN3_splice	p.SPCSPCSPCN210del	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		2	786_812	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		210			C-X-P repeat region.		Q3SX72	In_Frame_Del	DEL	ENST00000285402.3	37	c.630_656delCCCCTGCAGCCCCTGCAGCCCCTGCAA	CCDS6293.1																																																																																				0.555	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			8	43						8	43	---	---	---	---
CORO1B	57175	broad.mit.edu	37	11	67206198	67206199	+	Frame_Shift_Ins	INS	-	-	G	rs574741792|rs141781443	byFrequency	TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr11:67206198_67206199insG	ENST00000341356.5	-	10	1397_1398	c.1287_1288insC	c.(1285-1290)cccgccfs	p.A430fs	PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000393893.1_Frame_Shift_Ins_p.A430fs	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	430					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTGGTGGAGGCGGGGGCCCCTA	0.718																																						ENST00000393893.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(1285-1290)cccctcfs		coronin, actin binding protein, 1B																																				SO:0001589	frameshift_variant	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67206198_67206199insG	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1288dupC	11.37:g.67206203_67206203dupG	ENSP00000340211:p.Ala430fs					CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000341356.5_Frame_Shift_Ins_p.L430fs	p.L430fs	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		11	1390_1391	-			430					B2RD45	Frame_Shift_Ins	INS	ENST00000341356.5	37	c.1287_1288insC	CCDS8164.1																																																																																				0.718	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		3	3						3	3	---	---	---	---
DHH	50846	broad.mit.edu	37	12	49485004	49485005	+	In_Frame_Ins	INS	-	-	GTTGCG			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr12:49485004_49485005insGTTGCG	ENST00000266991.2	-	2	777_778	c.471_472insCGCAAC	c.(469-474)aacaag>aacCGCAACaag	p.156_157insNR	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	156					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						AACCCATACTTGTTGCGGTCGC	0.609																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(469-474)aaagta>aaCGCAACagta		desert hedgehog																																				SO:0001652	inframe_insertion	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49485004_49485005insGTTGCG	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.466_471dupCGCAAC	12.37:g.49485005_49485010dupGTTGCG	ENSP00000266991:p.Arg156_Asn157insAsnArg					RP11-386G11.8_ENST00000553174.1_RNA	p.157_157K>NAT	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN			2	777_778	-			157					Q15794	In_Frame_Ins	INS	ENST00000266991.2	37	c.471_472insCGCAAC	CCDS8779.1																																																																																				0.609	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		30	84						30	84	---	---	---	---
PPM1D	8493	broad.mit.edu	37	17	58740498	58740499	+	Frame_Shift_Ins	INS	-	-	A	rs375975790		TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr17:58740498_58740499insA	ENST00000305921.3	+	6	1635_1636	c.1403_1404insA	c.(1402-1407)tcaaaafs	p.SK468fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	468					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GTCATACCCTCAAAAGATCCAG	0.421											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1402-1404)taafs		protein phosphatase, Mg2+/Mn2+ dependent, 1D																																				SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740498_58740499insA	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1407dupA	17.37:g.58740502_58740502dupA	ENSP00000306682:p.Ser468fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.*468fs	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1635_1636	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		468					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Ins	INS	ENST00000305921.3	37	c.1403_1404insA	CCDS11625.1																																																																																				0.421	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		11	94						11	94	---	---	---	---
AD000091.2	0	broad.mit.edu	37	19	15726721	15726722	+	lincRNA	INS	-	-	ACTCACTCATTCCTCTGATC	rs148338083		TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr19:15726721_15726722insACTCACTCATTCCTCTGATC	ENST00000589196.2	-	0	0				CYP4F8_ENST00000441682.2_RNA																							ACGGCAGAGAAactcactcatt	0.559																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8																																						11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15726721_15726722insACTCACTCATTCCTCTGATC																													19.37:g.15726721_15726722insACTCACTCATTCCTCTGATC										P98187	CP4F8_HUMAN			0	262	+									RNA	INS	ENST00000589196.2	37																																																																																						0.559	AD000091.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000460896.2			3	4						3	4	---	---	---	---
