#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
PPID	5481	broad.mit.edu	37	4	159644365	159644365	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr4:159644365C>T	ENST00000307720.3	-	1	183	c.76G>A	c.(76-78)Ggg>Agg	p.G26R		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	26	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		CCTCGCTCCCCTCCGATGTCC	0.632																																						ENST00000307720.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(76-78)Ggg>Agg		peptidylprolyl isomerase D							60.0	55.0	56.0					4																	159644365		2203	4300	6503	SO:0001583	missense	5481				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr4:159644365C>T		CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.76G>A	4.37:g.159644365C>T	ENSP00000303754:p.Gly26Arg						p.G26R	NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN		COAD - Colon adenocarcinoma(41;0.0159)	1	183	-	all_hematologic(180;0.24)		26			PPIase cyclophilin-type.		B2R9V2	Missense_Mutation	SNP	ENST00000307720.3	37	c.76G>A	CCDS3801.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735011	0.69189	.	.	ENSG00000171497	ENST00000307720	T	0.23147	1.92	4.38	3.54	0.40534	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.41605	D	0.000844	T	0.34395	0.0896	M	0.83012	2.62	0.58432	D	0.999996	B	0.14012	0.009	B	0.22152	0.038	T	0.37244	-0.9714	10	0.62326	D	0.03	-1.0199	12.8371	0.57780	0.0:0.9187:0.0:0.0813	.	26	Q08752	PPID_HUMAN	R	26	ENSP00000303754:G26R	ENSP00000303754:G26R	G	-	1	0	PPID	159863815	0.995000	0.38212	0.992000	0.48379	0.995000	0.86356	6.148000	0.71788	1.449000	0.47699	0.655000	0.94253	GGG		0.632	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1	NM_005038		17	12	0	0	0	1	0	17	12				
ABCC3	8714	broad.mit.edu	37	17	48750437	48750437	+	Missense_Mutation	SNP	T	T	C	rs141577167		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr17:48750437T>C	ENST00000285238.8	+	18	2427	c.2347T>C	c.(2347-2349)Tct>Cct	p.S783P		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	783	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CGCGGTGGACTCTCATGTGGC	0.592																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(2347-2349)Tct>Cct		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)	T	PRO/SER	0,4406		0,0,2203	85.0	69.0	74.0		2347	3.6	1.0	17	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCC3	NM_003786.3	74	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	783/1528	48750437	1,13005	2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48750437T>C	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2347T>C	17.37:g.48750437T>C	ENSP00000285238:p.Ser783Pro						p.S783P	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		18	2427	+			783			ABC transporter 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.2347T>C	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.243501	0.58995	0.0	1.16E-4	ENSG00000108846	ENST00000285238	D	0.90444	-2.67	4.72	3.59	0.41128	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.070853	0.56097	D	0.000026	D	0.83830	0.5339	N	0.11427	0.14	0.58432	D	0.999991	P	0.49961	0.93	P	0.47744	0.556	D	0.84758	0.0760	10	0.87932	D	0	-18.4626	10.7584	0.46251	0.0:0.0:0.305:0.695	.	783	O15438	MRP3_HUMAN	P	783	ENSP00000285238:S783P	ENSP00000285238:S783P	S	+	1	0	ABCC3	46105436	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	1.473000	0.35387	0.855000	0.35359	0.459000	0.35465	TCT		0.592	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		4	52	0	0	0	1	0	4	52				
INTS2	57508	broad.mit.edu	37	17	59989372	59989372	+	Missense_Mutation	SNP	G	G	A	rs372208858		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr17:59989372G>A	ENST00000444766.3	-	6	808	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	INTS2_ENST00000251334.6_Missense_Mutation_p.R237C	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	245					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TCTGTCCTGCGCCTTCCTCCA	0.428																																						ENST00000444766.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(733-735)Cgc>Tgc		integrator complex subunit 2		G	CYS/ARG	0,3816		0,0,1908	200.0	200.0	200.0		733	4.8	1.0	17		200	1,8243		0,1,4121	no	missense	INTS2	NM_020748.2	180	0,1,6029	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	245/1205	59989372	1,12059	1908	4122	6030	SO:0001583	missense	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59989372G>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.733C>T	17.37:g.59989372G>A	ENSP00000414237:p.Arg245Cys					INTS2_ENST00000251334.6_Missense_Mutation_p.R237C	p.R245C	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN			6	808	-			245					Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	c.733C>T	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398282	0.83120	0.0	1.21E-4	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.44083	0.93	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	P	0.62382	0.901	T	0.52852	-0.8520	9	.	.	.	-6.8969	18.2392	0.89961	0.0:0.0:1.0:0.0	.	245	Q9H0H0	INT2_HUMAN	C	245;244	ENSP00000414237:R245C	.	R	-	1	0	INTS2	57344154	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.420000	0.97426	2.377000	0.81083	0.655000	0.94253	CGC		0.428	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		24	135	0	0	0	1	0	24	135				
HLA-B	3106	broad.mit.edu	37	6	31323335	31323335	+	Silent	SNP	G	G	A			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr6:31323335G>A	ENST00000412585.2	-	4	682	c.654C>T	c.(652-654)atC>atT	p.I218I		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	218	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CATGGTCAGAGATGGGGTGGT	0.582									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(652-654)atC>atT		major histocompatibility complex, class I, B							84.0	87.0	86.0					6																	31323335		2203	4300	6503	SO:0001819	synonymous_variant	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31323335G>A	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.654C>T	6.37:g.31323335G>A							p.I218I	NM_005514.6	NP_005505.2					4	682	-								Q29764	Silent	SNP	ENST00000412585.2	37	c.654C>T	CCDS34394.1																																																																																				0.582	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		55	52	0	0	0	1	0	55	52				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	25	0	0	0	1	0	3	25				
ABHD17A	81926	broad.mit.edu	37	19	1879997	1879997	+	Silent	SNP	G	G	A	rs139072903	byFrequency	TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr19:1879997G>A	ENST00000292577.7	-	3	883	c.450C>T	c.(448-450)taC>taT	p.Y150Y	ABHD17A_ENST00000590661.1_Silent_p.Y132Y|ABHD17A_ENST00000250974.9_Silent_p.Y201Y	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	150						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										AGCTGGCACCGTAGCCGGAGT	0.667													g|||	2	0.000399361	0.0	0.0	5008	,	,		16277	0.0		0.002	False		,,,				2504	0.0					ENST00000292577.7																			0											c.(448-450)taC>taT		abhydrolase domain containing 17A		G	,	0,4398		0,0,2199	31.0	31.0	31.0		450,603	-3.8	0.0	19	dbSNP_134	31	10,8578	791.6+/-407.5	0,10,4284	no	coding-synonymous,coding-synonymous	FAM108A1	NM_001130111.1,NM_031213.3	,	0,10,6483	AA,AG,GG		0.1164,0.0,0.077	,	150/311,201/362	1879997	10,12976	2199	4294	6493	SO:0001819	synonymous_variant	81926							g.chr19:1879997G>A	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.450C>T	19.37:g.1879997G>A						ABHD17A_ENST00000590661.1_Silent_p.Y132Y|ABHD17A_ENST00000250974.9_Silent_p.Y201Y	p.Y150Y	NM_001130111.1	NP_001123583.1					3	883	-								A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	c.450C>T	CCDS45902.1																																																																																				0.667	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		3	35	0	0	0	1	0	3	35				
SRPX	8406	broad.mit.edu	37	X	38016255	38016255	+	Missense_Mutation	SNP	G	G	A	rs146651232	byFrequency	TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chrX:38016255G>A	ENST00000378533.3	-	8	1089	c.983C>T	c.(982-984)aCg>aTg	p.T328M	SRPX_ENST00000544439.1_Missense_Mutation_p.T308M|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_Missense_Mutation_p.T269M|SRPX_ENST00000343800.6_Missense_Mutation_p.T315M|SRPX_ENST00000538295.1_Missense_Mutation_p.T328M|SRPX_ENST00000479015.1_5'UTR	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	328					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TGCAGCTGCCGTTCTGACACC	0.498													G|||	1	0.000264901	0.0008	0.0	3775	,	,		14969	0.0		0.0	False		,,,				2504	0.0					ENST00000378533.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(982-984)aCg>aTg		sushi-repeat containing protein, X-linked		G	MET/THR,MET/THR,MET/THR,MET/THR	5,3828		0,4,1,1627,570	113.0	94.0	100.0		923,806,983,983	6.1	1.0	X	dbSNP_134	100	0,6728		0,0,0,2428,1872	yes	missense,missense,missense,missense	SRPX	NM_001170750.1,NM_001170751.1,NM_001170752.1,NM_006307.4	81,81,81,81	0,4,1,4055,2442	AA,AG,A,GG,G		0.0,0.1304,0.0473	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	308/445,269/406,328/380,328/465	38016255	5,10556	2202	4300	6502	SO:0001583	missense	8406				cell adhesion	cell surface|membrane		g.chrX:38016255G>A	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.983C>T	X.37:g.38016255G>A	ENSP00000367794:p.Thr328Met					SRPX_ENST00000538295.1_Missense_Mutation_p.T328M|SRPX_ENST00000432886.2_Missense_Mutation_p.T269M|SRPX_ENST00000479015.1_5'UTR|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.T315M|SRPX_ENST00000544439.1_Missense_Mutation_p.T308M	p.T328M	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			8	1089	-			328					A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	c.983C>T	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.608028	0.66558	0.001304	0.0	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000538295;ENST00000378533;ENST00000343800	T;T;T;T;T	0.18338	2.26;2.43;2.29;2.24;2.22	6.08	6.08	0.98989	.	0.368405	0.33650	N	0.004686	T	0.32315	0.0825	L	0.55481	1.735	0.46823	D	0.99921	D;D;D;D	0.71674	0.998;0.972;0.975;0.958	P;B;P;B	0.59056	0.851;0.437;0.453;0.265	T	0.00706	-1.1601	10	0.39692	T	0.17	-7.3941	14.3571	0.66745	0.0:0.0:0.8523:0.1477	.	328;269;308;328	F5H4D7;B4DQH5;G3V1L0;P78539	.;.;.;SRPX_HUMAN	M	308;269;328;328;315	ENSP00000440758:T308M;ENSP00000411165:T269M;ENSP00000445034:T328M;ENSP00000367794:T328M;ENSP00000339211:T315M	ENSP00000339211:T315M	T	-	2	0	SRPX	37901199	0.998000	0.40836	0.999000	0.59377	0.993000	0.82548	5.203000	0.65174	2.562000	0.86427	0.600000	0.82982	ACG		0.498	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		22	34	0	0	0	1	0	22	34				
CHEK2	11200	broad.mit.edu	37	22	29121000	29121000	+	Missense_Mutation	SNP	T	T	C	rs369223840		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr22:29121000T>C	ENST00000405598.1	-	5	748	c.557A>G	c.(556-558)aAt>aGt	p.N186S	CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.N186S|CHEK2_ENST00000402731.1_Missense_Mutation_p.N186S|CHEK2_ENST00000348295.3_Missense_Mutation_p.N186S|CHEK2_ENST00000328354.6_Missense_Mutation_p.N186S|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.N229S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000382566.1_Missense_Mutation_p.N186S			O96017	CHK2_HUMAN	checkpoint kinase 2	186					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)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AATTTCAGAATTGTTATTCAA	0.338			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000382580.2			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(685-687)aAt>aGt	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2		T	SER/ASN,SER/ASN,SER/ASN	0,4406		0,0,2203	84.0	81.0	82.0		686,557,557	5.7	1.0	22		82	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	CHEK2	NM_001005735.1,NM_007194.3,NM_145862.2	46,46,46	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	229/587,186/544,186/515	29121000	1,13003	2203	4299	6502	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.chr22:29121000T>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.557A>G	22.37:g.29121000T>C	ENSP00000386087:p.Asn186Ser					CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.N186S|CHEK2_ENST00000404276.1_Missense_Mutation_p.N186S|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.N186S|CHEK2_ENST00000382566.1_Missense_Mutation_p.N186S|CHEK2_ENST00000405598.1_Missense_Mutation_p.N186S|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.N186S	p.N229S	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN			5	761	-			186			Protein kinase.		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.686A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027938	0.54790	0.0	1.16E-4	ENSG00000183765	ENST00000348295;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000402731;ENST00000439200	D;D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.73	5.73	0.89815	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.081689	0.85682	D	0.000000	D	0.91503	0.7317	L	0.58428	1.81	0.58432	D	0.999992	P;D;P;D	0.71674	0.924;0.998;0.94;0.959	P;D;P;P	0.70487	0.589;0.969;0.897;0.835	D	0.90839	0.4722	10	0.39692	T	0.17	-6.3948	15.1907	0.73041	0.0:0.0:0.0:1.0	.	186;186;186;229	O96017-7;O96017-12;O96017;O96017-9	.;.;CHK2_HUMAN;.	S	186;186;186;186;186;229;186;217	ENSP00000329012:N186S;ENSP00000372007:N186S;ENSP00000329178:N186S;ENSP00000385747:N186S;ENSP00000386087:N186S;ENSP00000372023:N229S;ENSP00000384835:N186S;ENSP00000408065:N217S	ENSP00000329178:N186S	N	-	2	0	CHEK2	27451000	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	5.443000	0.66581	2.184000	0.69523	0.477000	0.44152	AAT		0.338	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	23	0	0	0	1	0	6	23				
TFE3	7030	broad.mit.edu	37	X	48888961	48888961	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chrX:48888961C>T	ENST00000315869.7	-	9	1494	c.1235G>A	c.(1234-1236)cGg>cAg	p.R412Q	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	412	Leucine-zipper.				humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGATCGCTGCCGGCTCTCCAG	0.597			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1234-1236)cGg>cAg		transcription factor binding to IGHM enhancer 3							35.0	32.0	33.0					X																	48888961		2203	4299	6502	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48888961C>T	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1235G>A	X.37:g.48888961C>T	ENSP00000314129:p.Arg412Gln					TFE3_ENST00000493583.1_5'UTR	p.R412Q	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			9	1494	-			412			Leucine-zipper.		A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.1235G>A	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	c	24.2	4.508781	0.85282	.	.	ENSG00000068323	ENST00000315869	T	0.16597	2.33	5.64	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.19127	0.0459	M	0.67953	2.075	0.80722	D	1	B	0.31503	0.326	B	0.22601	0.04	T	0.01795	-1.1272	10	0.56958	D	0.05	-19.8376	12.3703	0.55252	0.0:0.9156:0.0:0.0844	.	412	P19532	TFE3_HUMAN	Q	412	ENSP00000314129:R412Q	ENSP00000314129:R412Q	R	-	2	0	TFE3	48775905	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	3.241000	0.51376	1.140000	0.42260	0.462000	0.41574	CGG		0.597	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		8	11	0	0	0	1	0	8	11				
OR4D5	219875	broad.mit.edu	37	11	123810393	123810393	+	Missense_Mutation	SNP	C	C	T	rs373579235		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr11:123810393C>T	ENST00000307033.2	+	1	144	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGGGAGCTTCGGTTTGTTTT	0.468																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(70-72)Cgg>Tgg		olfactory receptor, family 4, subfamily D, member 5		C	TRP/ARG	0,4404		0,0,2202	96.0	93.0	94.0		70	3.3	0.1	11		94	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR4D5	NM_001001965.1	101	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	24/319	123810393	1,13001	2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810393C>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.70C>T	11.37:g.123810393C>T	ENSP00000305970:p.Arg24Trp						p.R24W	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	144	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	24					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.70C>T	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803677	0.31869	0.0	1.16E-4	ENSG00000171014	ENST00000307033	T	0.00448	7.38	5.28	3.35	0.38373	.	0.325829	0.22061	N	0.065174	T	0.00637	0.0021	L	0.46741	1.465	0.09310	N	1	D	0.76494	0.999	D	0.64776	0.929	T	0.52689	-0.8542	10	0.87932	D	0	-7.0026	7.5182	0.27612	0.4272:0.4975:0.0:0.0753	.	24	Q8NGN0	OR4D5_HUMAN	W	24	ENSP00000305970:R24W	ENSP00000305970:R24W	R	+	1	2	OR4D5	123315603	0.001000	0.12720	0.099000	0.21106	0.594000	0.36715	0.792000	0.26929	0.557000	0.29117	0.655000	0.94253	CGG		0.468	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		40	39	0	0	0	1	0	40	39				
PINK1	65018	broad.mit.edu	37	1	20975019	20975019	+	Missense_Mutation	SNP	T	T	C			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr1:20975019T>C	ENST00000321556.4	+	6	1239	c.1145T>C	c.(1144-1146)aTc>aCc	p.I382T	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	382	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGCTGGTGATCGCAGATTTT	0.602																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	ENST00000321556.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14						c.(1144-1146)aTc>aCc		PTEN induced putative kinase 1							54.0	49.0	51.0					1																	20975019		2203	4300	6503	SO:0001583	missense	65018				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding	g.chr1:20975019T>C	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1145T>C	1.37:g.20975019T>C	ENSP00000364204:p.Ile382Thr					PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	p.I382T	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	6	1239	+		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	382			Protein kinase.		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	ENST00000321556.4	37	c.1145T>C	CCDS211.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.485411	0.84854	.	.	ENSG00000158828	ENST00000321556	T	0.79653	-1.29	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.147598	0.64402	D	0.000012	D	0.91656	0.7363	M	0.94142	3.5	0.58432	D	0.999998	D;D	0.64830	0.994;0.993	P;D	0.65140	0.908;0.932	D	0.93496	0.6840	10	0.87932	D	0	-12.4003	13.214	0.59844	0.0:0.0:0.0:1.0	.	75;382	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	T	382	ENSP00000364204:I382T	ENSP00000364204:I382T	I	+	2	0	PINK1	20847606	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.136000	0.77285	2.371000	0.80710	0.533000	0.62120	ATC		0.602	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		9	25	0	0	0	1	0	9	25				
MICALL2	79778	broad.mit.edu	37	7	1484922	1484922	+	Missense_Mutation	SNP	C	C	T	rs181998278	byFrequency	TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr7:1484922C>T	ENST00000297508.7	-	6	959	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	MICALL2_ENST00000405088.4_Missense_Mutation_p.A50T	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	262	Mediates targeting to the cell plasma membrane. {ECO:0000250}.|Necessary and sufficient for interaction with actinins. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ACACCCATGGCCCCTGGCTGT	0.687													C|||	14	0.00279553	0.0	0.0	5008	,	,		15052	0.0139		0.0	False		,,,				2504	0.0					ENST00000297508.7																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19						c.(784-786)Gcc>Acc		MICAL-like 2							19.0	22.0	21.0					7																	1484922		2180	4276	6456	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1484922C>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.784G>A	7.37:g.1484922C>T	ENSP00000297508:p.Ala262Thr					MICALL2_ENST00000405088.4_Missense_Mutation_p.A50T	p.A262T	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	6	959	-		Ovarian(82;0.0253)	262					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.784G>A	CCDS5324.1	9	0.004120879120879121	0	0.0	0	0.0	9	0.015734265734265736	0	0.0	C	16.63	3.176022	0.57692	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.70749	2.32;-0.51	4.12	3.2	0.36748	.	0.219510	0.22968	N	0.053470	T	0.56217	0.1970	L	0.29908	0.895	0.09310	N	1	D	0.63880	0.993	P	0.59948	0.866	T	0.57613	-0.7781	10	0.56958	D	0.05	.	11.0544	0.47909	0.0:0.8103:0.1897:0.0	.	262	Q8IY33	MILK2_HUMAN	T	50;262	ENSP00000385928:A50T;ENSP00000297508:A262T	ENSP00000297508:A262T	A	-	1	0	MICALL2	1451448	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	0.124000	0.15728	0.789000	0.33779	0.555000	0.69702	GCC		0.687	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		17	15	0	0	0	1	0	17	15				
ABHD16A	7920	broad.mit.edu	37	6	31656510	31656510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr6:31656510G>A	ENST00000395952.3	-	14	1402	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	ABHD16A_ENST00000440843.2_Nonsense_Mutation_p.Q381*|ABHD16A_ENST00000375842.4_Nonsense_Mutation_p.Q195*|ABHD16A_ENST00000471644.1_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	414						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CTGCACAGCTGCTCCGCGTTG	0.582																																						ENST00000375842.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(583-585)Cag>Tag		abhydrolase domain containing 16A							34.0	34.0	34.0					6																	31656510		1509	2709	4218	SO:0001587	stop_gained	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31656510G>A	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.1240C>T	6.37:g.31656510G>A	ENSP00000379282:p.Gln414*					ABHD16A_ENST00000440843.2_Nonsense_Mutation_p.Q381*|ABHD16A_ENST00000471644.1_5'UTR|ABHD16A_ENST00000395952.3_Nonsense_Mutation_p.Q414*|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	p.Q195*			O95870	ABHGA_HUMAN			14	1569	-			414					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Nonsense_Mutation	SNP	ENST00000395952.3	37	c.583C>T	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	G	40	8.222800	0.98714	.	.	ENSG00000204427	ENST00000395952;ENST00000375842;ENST00000440843	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-22.2444	17.2944	0.87166	0.0:0.0:1.0:0.0	.	.	.	.	X	414;195;381	.	ENSP00000365002:Q195X	Q	-	1	0	ABHD16A	31764489	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	8.138000	0.89613	2.687000	0.91594	0.462000	0.41574	CAG		0.582	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			17	13	0	0	0	1	0	17	13				
PSG2	5670	broad.mit.edu	37	19	43576025	43576025	+	Missense_Mutation	SNP	T	T	C			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr19:43576025T>C	ENST00000406487.1	-	4	889	c.791A>G	c.(790-792)aAc>aGc	p.N264S		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	264	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGGGTTAGAGTTCGCGAAGCA	0.443																																						ENST00000406487.1																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(790-792)aAc>aGc		pregnancy specific beta-1-glycoprotein 2							184.0	194.0	191.0					19																	43576025		2202	4299	6501	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43576025T>C		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.791A>G	19.37:g.43576025T>C	ENSP00000385706:p.Asn264Ser						p.N264S	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			4	889	-		Prostate(69;0.00682)	264			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.791A>G	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	t	0.367	-0.936400	0.02340	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.11169	2.8	1.26	-1.7	0.08159	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03827	0.0108	N	0.05351	-0.065	0.09310	N	1	B;B	0.20261	0.009;0.043	B;B	0.24006	0.044;0.05	T	0.45891	-0.9230	9	0.12430	T	0.62	.	1.6789	0.02827	0.2634:0.0:0.3942:0.3424	.	264;264	B5MCM8;P11465	.;PSG2_HUMAN	S	264	ENSP00000385706:N264S	ENSP00000332984:N264S	N	-	2	0	PSG2	48267865	0.001000	0.12720	0.007000	0.13788	0.008000	0.06430	-0.426000	0.07008	-0.194000	0.10399	-0.869000	0.02991	AAC		0.443	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		86	109	0	0	0	1	0	86	109				
MICA	100507436	broad.mit.edu	37	6	31378425	31378425	+	Missense_Mutation	SNP	A	A	G	rs1051786	byFrequency	TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr6:31378425A>G	ENST00000449934.2	+	2	230	c.176A>G	c.(175-177)tAt>tGt	p.Y59C	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TTCCTGCGCTATGACAGGCAG	0.542													g|||	1827	0.364816	0.4788	0.4078	5008	,	,		19566	0.3006		0.3141	False		,,,				2504	0.2986					ENST00000449934.2																			0				breast(1)|endometrium(3)|kidney(1)	5						c.(175-177)tAt>tGt		MHC class I polypeptide-related sequence A		G	CYS/TYR	579,805		132,315,245	40.0	44.0	43.0		176	-5.5	0.0	6	dbSNP_86	43	919,2263		126,667,798	no	missense	MICA	NM_001177519.1	194	258,982,1043	GG,GA,AA		28.8812,41.8353,32.8077	benign	59/333	31378425	1498,3068	692	1591	2283	SO:0001583	missense	100507436				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31378425A>G	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.176A>G	6.37:g.31378425A>G	ENSP00000413079:p.Tyr59Cys					HCP5_ENST00000414046.2_RNA	p.Y59C	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN			2	230	+		Ovarian(999;0.0253)	59		C -> Y (in allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*024, allele MICA*025, allele MICA*027, allele MICA*028, allele MICA*031, allele MICA*032, allele MICA*033, allele MICA*042, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*051, allele MICA*054 and allele MICA*056; dbSNP:rs1051786).				Missense_Mutation	SNP	ENST00000449934.2	37	c.176A>G	CCDS56412.1	799	0.3658424908424908	227	0.4613821138211382	169	0.46685082872928174	160	0.27972027972027974	243	0.32058047493403696	N	4.126	0.021662	0.08006	0.418353	0.288812	ENSG00000204520	ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.03635	3.86;3.86	2.89	-5.5	0.02576	.	0.906056	0.08949	N	0.870393	T	0.00695	0.0023	.	.	.	0.80722	P	0.0	B	0.22983	0.078	B	0.24541	0.054	T	0.44922	-0.9296	8	0.34782	T	0.22	.	3.6542	0.08214	0.5494:0.0:0.1662:0.2844	rs1051786;rs3192167;rs16899591;rs17200165;rs17845517;rs17858407;rs17879747;rs58269144	59	Q96QC4	.	C	59;59;59;46	ENSP00000413079:Y59C;ENSP00000402410:Y46C	ENSP00000365394:Y59C	Y	+	2	0	MICA	31486404	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.180000	0.00569	-2.184000	0.00762	-2.615000	0.00158	TAT		0.542	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		3	30	0	0	0	1	0	3	30				
PCDHB10	56126	broad.mit.edu	37	5	140574155	140574155	+	Missense_Mutation	SNP	C	C	T	rs201475017		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr5:140574155C>T	ENST00000239446.4	+	1	2214	c.2030C>T	c.(2029-2031)gCc>gTc	p.A677V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	677					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGAGGCGGCCCCGGCCCAG	0.687																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(2029-2031)gCc>gTc				C	VAL/ALA	0,3800		0,0,1900	28.0	38.0	35.0		2030	1.8	0.1	5		35	5,7517		1,3,3757	no	missense	PCDHB10	NM_018930.3	64	1,3,5657	TT,TC,CC		0.0665,0.0,0.0442	benign	677/801	140574155	5,11317	1900	3761	5661	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574155C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2030C>T	5.37:g.140574155C>T	ENSP00000239446:p.Ala677Val						p.A677V	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2214	+			677					Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.2030C>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	9.898	1.206178	0.22205	0.0	6.65E-4	ENSG00000120324	ENST00000239446	T	0.50277	0.75	2.66	1.78	0.24846	.	.	.	.	.	T	0.49575	0.1565	M	0.85777	2.775	0.09310	N	1	B	0.26775	0.159	B	0.30105	0.111	T	0.47611	-0.9104	9	0.41790	T	0.15	.	6.091	0.19995	0.0:0.6429:0.0:0.3571	.	677	Q9UN67	PCDBA_HUMAN	V	677	ENSP00000239446:A677V	ENSP00000239446:A677V	A	+	2	0	PCDHB10	140554339	0.002000	0.14202	0.092000	0.20876	0.063000	0.16089	0.878000	0.28126	0.449000	0.26747	-0.708000	0.03648	GCC		0.687	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		6	19	0	0	0	1	0	6	19				
MICA	100507436	broad.mit.edu	37	6	31378387	31378387	+	Silent	SNP	T	T	C	rs1063631|rs386699190	byFrequency	TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr6:31378387T>C	ENST00000449934.2	+	2	192	c.138T>C	c.(136-138)ctT>ctC	p.L46L	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CAGGGTTTCTTGCTGAGGTAC	0.532													c|||	1829	0.365216	0.4788	0.4078	5008	,	,		19543	0.3016		0.3141	False		,,,				2504	0.2996					ENST00000449934.2																			0				breast(1)|endometrium(3)|kidney(1)	5						c.(136-138)ctT>ctC		MHC class I polypeptide-related sequence A		C		573,811		132,309,251	19.0	21.0	21.0		138	-5.8	0.0	6	dbSNP_86	21	881,2301		126,629,836	no	coding-synonymous	MICA	NM_001177519.1		258,938,1087	CC,CT,TT		27.687,41.4017,31.8441		46/333	31378387	1454,3112	692	1591	2283	SO:0001819	synonymous_variant	100507436				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31378387T>C	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.138T>C	6.37:g.31378387T>C						HCP5_ENST00000414046.2_RNA	p.L46L	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN			2	192	+		Ovarian(999;0.0253)	46						Silent	SNP	ENST00000449934.2	37	c.138T>C	CCDS56412.1																																																																																				0.532	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		3	34	0	0	0	1	0	3	34				
SH2D2A	9047	broad.mit.edu	37	1	156779137	156779137	+	Missense_Mutation	SNP	A	A	G			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr1:156779137A>G	ENST00000368199.3	-	7	1013	c.860T>C	c.(859-861)aTa>aCa	p.I287T	SH2D2A_ENST00000368198.3_Missense_Mutation_p.I269T|SH2D2A_ENST00000392306.2_Missense_Mutation_p.I297T	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	287	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATAGAAAGCTATGGGTTCATC	0.612																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(889-891)aTa>aCa		SH2 domain containing 2A							102.0	106.0	105.0					1																	156779137		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779137A>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.860T>C	1.37:g.156779137A>G	ENSP00000357182:p.Ile287Thr					SH2D2A_ENST00000368198.3_Missense_Mutation_p.I269T|SH2D2A_ENST00000368199.3_Missense_Mutation_p.I287T	p.I297T	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			7	1029	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		287			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.890T>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.388170	0.61956	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.70516	-0.42;-0.49;0.06	3.77	3.77	0.43336	.	0.413210	0.24407	N	0.038786	T	0.66489	0.2794	L	0.32530	0.975	0.32570	N	0.529975	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.994;0.994	T	0.66988	-0.5784	10	0.45353	T	0.12	-6.512	11.73	0.51730	1.0:0.0:0.0:0.0	.	297;269;287	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	T	287;269;297	ENSP00000357182:I287T;ENSP00000357181:I269T;ENSP00000376123:I297T	ENSP00000357181:I269T	I	-	2	0	SH2D2A	155045761	0.998000	0.40836	0.998000	0.56505	0.823000	0.46562	4.943000	0.63554	1.696000	0.51158	0.459000	0.35465	ATA		0.612	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		8	123	0	0	0	1	0	8	123				
SOWAHB	345079	broad.mit.edu	37	4	77817854	77817854	+	Silent	SNP	G	G	A			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr4:77817854G>A	ENST00000334306.2	-	1	1148	c.1149C>T	c.(1147-1149)cgC>cgT	p.R383R		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	383																	AACGAATGCTGCGAAAGACAG	0.572																																						ENST00000334306.2																			0											c.(1147-1149)cgC>cgT		sosondowah ankyrin repeat domain family member B							72.0	78.0	76.0					4																	77817854		2203	4300	6503	SO:0001819	synonymous_variant	345079							g.chr4:77817854G>A		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1149C>T	4.37:g.77817854G>A							p.R383R	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	1148	-			383					B2RP29	Silent	SNP	ENST00000334306.2	37	c.1149C>T	CCDS34017.1																																																																																				0.572	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		35	58	0	0	0	1	0	35	58				
DPYD	1806	broad.mit.edu	37	1	97771737	97771737	+	Silent	SNP	C	C	T			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr1:97771737C>T	ENST00000370192.3	-	17	2275	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	725					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TCTTACCTTCCTTTGCAGCTC	0.438																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2173-2175)aaG>aaA		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						216.0	220.0	219.0					1																	97771737		2203	4300	6503	SO:0001819	synonymous_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97771737C>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2175G>A	1.37:g.97771737C>T						DPYD-AS1_ENST00000422980.1_RNA	p.K725K	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	17	2275	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	725					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	c.2175G>A	CCDS30777.1																																																																																				0.438	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		11	224	0	0	0	1	0	11	224				
ZSWIM8	23053	broad.mit.edu	37	10	75557769	75557769	+	Missense_Mutation	SNP	A	A	G			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr10:75557769A>G	ENST00000605216.1	+	19	4095	c.3878A>G	c.(3877-3879)aAc>aGc	p.N1293S	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.N1293S|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.N1260S|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.N1298S|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.N1298S	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1293							zinc ion binding (GO:0008270)										GGCCTGCACAACTTTGTTTCT	0.507																																						ENST00000604729.1																			0											c.(3892-3894)aAc>aGc		zinc finger, SWIM-type containing 8							101.0	105.0	104.0					10																	75557769		2024	4177	6201	SO:0001583	missense	23053							g.chr10:75557769A>G	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3878A>G	10.37:g.75557769A>G	ENSP00000474748:p.Asn1293Ser					ZSWIM8_ENST00000603114.1_Missense_Mutation_p.N1260S|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.N1298S|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.N1293S|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.N1293S	p.N1298S							19	4190	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.3893A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.66|19.66	3.869198|3.869198	0.72065|0.72065	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000412198	T|.	0.57595|.	0.39|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.81497|0.81497	2.545|2.545	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D;D|.	0.67145|.	0.996;0.996;0.996;0.996|.	D;D;D;D|.	0.73380|.	0.971;0.98;0.98;0.971|.	T|T	0.79029|0.79029	-0.1970|-0.1970	10|5	0.87932|.	D|.	0|.	-8.0132|-8.0132	15.8006|15.8006	0.78450|0.78450	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1293;1305;1293;1298|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.;.|.	S|A	1298|568	ENSP00000381693:N1298S|.	ENSP00000381693:N1298S|.	N|T	+|+	2|1	0|0	KIAA0913|KIAA0913	75227775|75227775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.859000|8.859000	0.92264|0.92264	2.144000|2.144000	0.66660|0.66660	0.460000|0.460000	0.39030|0.39030	AAC|ACT		0.507	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		24	26	0	0	0	1	0	24	26				
MAGEB6	158809	broad.mit.edu	37	X	26212473	26212473	+	Silent	SNP	C	C	T			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chrX:26212473C>T	ENST00000379034.1	+	2	659	c.510C>T	c.(508-510)gcC>gcT	p.A170A		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	170										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGTGGCTGCCGAGGGTGAAG	0.517																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(508-510)gcC>gcT		melanoma antigen family B, 6							53.0	47.0	49.0					X																	26212473		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212473C>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.510C>T	X.37:g.26212473C>T							p.A170A	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	659	+			170					Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.510C>T	CCDS14217.1																																																																																				0.517	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		11	65	0	0	0	1	0	11	65				
ZNF75D	7626	broad.mit.edu	37	X	134421632	134421632	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chrX:134421632G>A	ENST00000370766.3	-	7	3679	c.970C>T	c.(970-972)Cac>Tac	p.H324Y	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.H229Y	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	324					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGTACACTGTGTGTATCACCA	0.388																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(970-972)Cac>Tac		zinc finger protein 75D							127.0	117.0	120.0					X																	134421632		2203	4299	6502	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134421632G>A	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.970C>T	X.37:g.134421632G>A	ENSP00000359802:p.His324Tyr					ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.H229Y	p.H324Y	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN			7	3679	-			324					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.970C>T	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	G	0.513	-0.865439	0.02590	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.06528	3.29;3.29	2.54	-2.55	0.06288	.	2.482670	0.01808	N	0.033292	T	0.04137	0.0115	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39683	-0.9602	10	0.56958	D	0.05	.	2.6711	0.05067	0.4178:0.0:0.3137:0.2686	.	324;229	P51815;A6NK62	ZN75D_HUMAN;.	Y	324;229	ENSP00000359802:H324Y;ENSP00000359800:H229Y	ENSP00000359800:H229Y	H	-	1	0	ZNF75D	134249298	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.517000	0.02248	-0.895000	0.03920	0.422000	0.28245	CAC		0.388	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		21	96	0	0	0	1	0	21	96				
NAV1	89796	broad.mit.edu	37	1	201751394	201751394	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr1:201751394G>A	ENST00000367296.4	+	6	2174	c.1754G>A	c.(1753-1755)cGc>cAc	p.R585H	NAV1_ENST00000367302.1_Missense_Mutation_p.R598H|NAV1_ENST00000295624.6_Missense_Mutation_p.R585H|NAV1_ENST00000367300.3_Missense_Mutation_p.R585H|NAV1_ENST00000367295.1_Missense_Mutation_p.R194H|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.R585H	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	585					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGTCGGGACCGCCTGAGTGAT	0.587																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(1753-1755)cGc>cAc		neuron navigator 1							79.0	83.0	82.0					1																	201751394		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201751394G>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1754G>A	1.37:g.201751394G>A	ENSP00000356265:p.Arg585His					IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.R194H|NAV1_ENST00000295624.6_Missense_Mutation_p.R585H|NAV1_ENST00000367302.1_Missense_Mutation_p.R598H|NAV1_ENST00000367300.3_Missense_Mutation_p.R585H|NAV1_ENST00000367297.4_Missense_Mutation_p.R585H	p.R585H	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			6	2174	+			585					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.1754G>A	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710396	0.48517	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.28	5.28	0.74379	.	0.050977	0.85682	D	0.000000	T	0.44117	0.1278	N	0.04508	-0.205	0.44660	D	0.997646	B;B;D;B	0.89917	0.064;0.058;1.0;0.01	B;B;D;B	0.79784	0.005;0.032;0.993;0.003	T	0.54583	-0.8272	10	0.39692	T	0.17	-27.9338	18.7035	0.91629	0.0:0.0:1.0:0.0	.	194;585;93;585	Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.;NAV1_HUMAN;.;.	H	598;585;585;585;585;93;194	ENSP00000356271:R598H;ENSP00000356265:R585H;ENSP00000295624:R585H;ENSP00000356266:R585H;ENSP00000356269:R585H;ENSP00000356264:R194H	ENSP00000295624:R585H	R	+	2	0	NAV1	200018017	1.000000	0.71417	0.986000	0.45419	0.736000	0.42039	7.374000	0.79633	2.755000	0.94549	0.655000	0.94253	CGC		0.587	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		4	82	0	0	0	1	0	4	82				
BDP1	55814	broad.mit.edu	37	5	70828156	70828156	+	Missense_Mutation	SNP	C	C	G			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr5:70828156C>G	ENST00000358731.4	+	26	6057	c.5794C>G	c.(5794-5796)Cca>Gca	p.P1932A	BDP1_ENST00000380675.2_Missense_Mutation_p.P69A	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1932					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTGAATGTCCCAGATGTAGG	0.338																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(5794-5796)Cca>Gca		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							112.0	103.0	106.0					5																	70828156		1873	4107	5980	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70828156C>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5794C>G	5.37:g.70828156C>G	ENSP00000351575:p.Pro1932Ala					BDP1_ENST00000380675.2_Missense_Mutation_p.P69A	p.P1932A	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	26	6057	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1932					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.5794C>G	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	9.620	1.133468	0.21041	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.10288	2.89;2.89	5.63	3.78	0.43462	.	0.436137	0.22438	N	0.060056	T	0.08403	0.0209	L	0.38175	1.15	0.23515	N	0.997514	P;B	0.36683	0.565;0.048	B;B	0.33690	0.168;0.015	T	0.24657	-1.0154	10	0.30078	T	0.28	.	9.4113	0.38494	0.1432:0.4781:0.3787:0.0	.	1932;1932	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	A	1932;1512;69;69	ENSP00000351575:P1932A;ENSP00000370050:P69A	ENSP00000351575:P1932A	P	+	1	0	BDP1	70863912	0.968000	0.33430	0.904000	0.35570	0.998000	0.95712	0.779000	0.26746	0.630000	0.30394	0.655000	0.94253	CCA		0.338	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		12	14	0	0	0	1	0	12	14				
ABL1	25	broad.mit.edu	37	9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-	rs201725154		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)aagdel	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1813-1815)del		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)																																			SO:0001651	inframe_deletion	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759490_133759492delAAG	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1813_1815delAAG	9.37:g.133759499_133759501delAAG	ENSP00000323315:p.Lys609del						p.K609del	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2194_2196	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	609			Poly-Lys.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	In_Frame_Del	DEL	ENST00000318560.5	37	c.1813_1815delAAG	CCDS35166.1																																																																																				0.616	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		8	133						8	133	---	---	---	---
NPIPA5	100288332	broad.mit.edu	37	16	15457565	15457566	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr16:15457565_15457566delAC	ENST00000360151.4	-	8	1002_1003	c.1003_1004delGT	c.(1003-1005)gtcfs	p.V335fs		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	335	Pro-rich.																GAGTGAGCAGACACACTCGGGA	0.446																																						ENST00000360151.4																			0											c.(1003-1005)cfs		nuclear pore complex interacting protein family, member A5																																				SO:0001589	frameshift_variant	100288332							g.chr16:15457565_15457566delAC		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.1003_1004delGT	16.37:g.15457569_15457570delAC	ENSP00000433597:p.Val335fs						p.V335fs	NM_001277325.1	NP_001264254.1					8	1002_1003	-								Q0P618	Frame_Shift_Del	DEL	ENST00000360151.4	37	c.1003_1004delGT	CCDS59264.1																																																																																				0.446	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			7	27						7	27	---	---	---	---
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-	rs373178250		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64																																						ENST00000598398.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(40-42)del		hepcidin antimicrobial peptide																																				SO:0001651	inframe_deletion	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35773520_35773522delCTC	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.40_42delCTC	19.37:g.35773529_35773531delCTC	ENSP00000471894:p.Leu18del					HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	336_338	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		18					Q1HE14|Q9BY68	In_Frame_Del	DEL	ENST00000598398.1	37	c.40_42delCTC	CCDS12454.1																																																																																				0.640	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175		7	163						7	163	---	---	---	---
