#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
KIFC1	3833	broad.mit.edu	37	6	33371611	33371611	+	Missense_Mutation	SNP	G	G	A	rs146314962		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:33371611G>A	ENST00000428849.2	+	6	911	c.461G>A	c.(460-462)cGt>cAt	p.R154H	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	154					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						AAACGGTGCCGTGAGAGGACT	0.552																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(460-462)cGt>cAt		kinesin family member C1							102.0	98.0	99.0					6																	33371611		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33371611G>A	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.461G>A	6.37:g.33371611G>A	ENSP00000393963:p.Arg154His					KIFC1_ENST00000486695.1_3'UTR	p.R154H	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			6	911	+			154					O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.461G>A	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792419	0.50102	.	.	ENSG00000237649	ENST00000428849;ENST00000450504	T	0.79247	-1.25	5.34	2.39	0.29439	.	0.254626	0.40818	N	0.001011	T	0.57932	0.2087	L	0.34521	1.04	0.31921	N	0.613471	D;D	0.65815	0.995;0.981	P;P	0.51135	0.66;0.66	T	0.57613	-0.7781	10	0.46703	T	0.11	0.2185	5.9511	0.19246	0.389:0.0:0.611:0.0	.	146;154	B4E063;Q9BW19	.;KIFC1_HUMAN	H	154;195	ENSP00000393963:R154H	ENSP00000393963:R154H	R	+	2	0	KIFC1	33479589	0.998000	0.40836	0.951000	0.38953	0.222000	0.24845	2.580000	0.46068	0.827000	0.34685	0.563000	0.77884	CGT		0.552	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		14	203	0	0	0	1	0	14	203				
ZNF470	388566	broad.mit.edu	37	19	57089133	57089133	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:57089133A>T	ENST00000330619.8	+	6	2022	c.1336A>T	c.(1336-1338)Att>Ttt	p.I446F	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.I446F	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ACATCAGAGAATTCATACAGG	0.418																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1336-1338)Att>Ttt		zinc finger protein 470							80.0	83.0	82.0					19																	57089133		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089133A>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1336A>T	19.37:g.57089133A>T	ENSP00000333223:p.Ile446Phe					ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.I446F	p.I446F	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2022	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	446					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1336A>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.307467	0.40795	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.00760	5.73;5.73	4.26	3.19	0.36642	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01661	0.0053	M	0.74647	2.275	0.22171	N	0.999316	P	0.48998	0.918	P	0.46629	0.522	T	0.47182	-0.9137	9	0.72032	D	0.01	.	5.0617	0.14560	0.7103:0.1796:0.1101:0.0	.	446	Q6ECI4	ZN470_HUMAN	F	446	ENSP00000375590:I446F;ENSP00000333223:I446F	ENSP00000333223:I446F	I	+	1	0	ZNF470	61780945	0.000000	0.05858	0.927000	0.36925	0.725000	0.41563	0.596000	0.24044	0.647000	0.30713	-0.417000	0.06048	ATT		0.418	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		5	109	0	0	0	1	0	5	109				
CHD5	26038	broad.mit.edu	37	1	6209463	6209463	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:6209463C>G	ENST00000262450.3	-	8	1103	c.1004G>C	c.(1003-1005)gGt>gCt	p.G335A	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATAGCCGTCACCATCATCAAC	0.582																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(1003-1005)gGt>gCt		chromodomain helicase DNA binding protein 5							117.0	84.0	95.0					1																	6209463		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6209463C>G	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1004G>C	1.37:g.6209463C>G	ENSP00000262450:p.Gly335Ala					CHD5_ENST00000378021.1_5'UTR	p.G335A	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	8	1103	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	335					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.1004G>C	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816044	0.32145	.	.	ENSG00000116254	ENST00000262450	D	0.84589	-1.87	4.03	4.03	0.46877	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	U	0.000002	T	0.79405	0.4440	L	0.58101	1.795	0.80722	D	1	B	0.32918	0.39	B	0.24541	0.054	T	0.76940	-0.2773	10	0.22706	T	0.39	-9.5779	13.2234	0.59901	0.0:0.8392:0.1608:0.0	.	335	Q8TDI0	CHD5_HUMAN	A	335	ENSP00000262450:G335A	ENSP00000262450:G335A	G	-	2	0	CHD5	6132050	1.000000	0.71417	0.992000	0.48379	0.873000	0.50193	4.676000	0.61627	1.995000	0.58328	0.313000	0.20887	GGT		0.582	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		15	21	0	0	0	1	0	15	21				
STXBP6	29091	broad.mit.edu	37	14	25325252	25325252	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr14:25325252C>T	ENST00000323944.5	-	4	792	c.341G>A	c.(340-342)aGc>aAc	p.S114N	STXBP6_ENST00000546511.1_Missense_Mutation_p.S114N|STXBP6_ENST00000550887.1_Missense_Mutation_p.S114N|STXBP6_ENST00000419632.2_Missense_Mutation_p.S114N|STXBP6_ENST00000396700.1_Missense_Mutation_p.S114N|STXBP6_ENST00000358326.2_Missense_Mutation_p.S114N|STXBP6_ENST00000548724.1_Missense_Mutation_p.S114N			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	114					negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		TGACGCTGTGCTGGCTACCCA	0.423																																						ENST00000323944.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7						c.(340-342)aGc>aAc		syntaxin binding protein 6 (amisyn)							125.0	106.0	112.0					14																	25325252		2203	4300	6503	SO:0001583	missense	0				vesicle-mediated transport	cytoplasm|integral to membrane		g.chr14:25325252C>T	AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.341G>A	14.37:g.25325252C>T	ENSP00000324302:p.Ser114Asn					STXBP6_ENST00000546511.1_Missense_Mutation_p.S114N|STXBP6_ENST00000550887.1_Missense_Mutation_p.S114N|STXBP6_ENST00000548724.1_Missense_Mutation_p.S114N|STXBP6_ENST00000419632.2_Missense_Mutation_p.S114N|STXBP6_ENST00000358326.2_Missense_Mutation_p.S114N|STXBP6_ENST00000396700.1_Missense_Mutation_p.S114N	p.S114N			Q8NFX7	STXB6_HUMAN		GBM - Glioblastoma multiforme(265;0.0296)	4	792	-			114					D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Missense_Mutation	SNP	ENST00000323944.5	37	c.341G>A	CCDS9634.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211227	0.58343	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000358326	.	.	.	5.18	5.18	0.71444	.	0.127751	0.64402	D	0.000001	T	0.59059	0.2166	L	0.58101	1.795	0.42714	D	0.99365	B	0.14438	0.01	B	0.04013	0.001	T	0.55704	-0.8099	9	0.30078	T	0.28	-14.5844	16.1802	0.81892	0.0:1.0:0.0:0.0	.	114	Q8NFX7	STXB6_HUMAN	N	114	.	ENSP00000324302:S114N	S	-	2	0	STXBP6	24395092	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.936000	0.63506	2.422000	0.82143	0.585000	0.79938	AGC		0.423	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1			4	57	0	0	0	1	0	4	57				
KIRREL2	84063	broad.mit.edu	37	19	36357197	36357197	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:36357197C>G	ENST00000360202.5	+	15	2128	c.1930C>G	c.(1930-1932)Cca>Gca	p.P644A	KIRREL2_ENST00000592409.1_Missense_Mutation_p.P609A|APLP1_ENST00000537454.2_5'Flank|KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron|APLP1_ENST00000221891.4_5'Flank	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	644	Pro-rich.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGACTTCAACCCACACCTGGG	0.622																																						ENST00000360202.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(1930-1932)Cca>Gca		kin of IRRE like 2 (Drosophila)							73.0	76.0	75.0					19																	36357197		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36357197C>G	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1930C>G	19.37:g.36357197C>G	ENSP00000353331:p.Pro644Ala					KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.P624A|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P609A|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Intron	p.P644A	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	2128	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		644			Pro-rich.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.1930C>G	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	C	3.597	-0.082300	0.07141	.	.	ENSG00000126259	ENST00000360202;ENST00000341658;ENST00000270294	T	0.63913	-0.07	5.1	-2.84	0.05751	.	0.307206	0.23635	N	0.046085	T	0.33089	0.0851	N	0.19112	0.55	0.09310	N	0.999998	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.10450	0.002;0.005;0.002	T	0.06391	-1.0829	9	.	.	.	-1.0441	1.0879	0.01657	0.1446:0.3172:0.2825:0.2557	.	644;624;644	F1T0I2;Q6UWL6-4;Q6UWL6	.;.;KIRR2_HUMAN	A	644;624;155	ENSP00000353331:P644A	.	P	+	1	0	KIRREL2	41049037	0.031000	0.19500	0.064000	0.19789	0.821000	0.46438	0.023000	0.13533	-0.303000	0.08856	0.561000	0.74099	CCA		0.622	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		6	141	0	0	0	1	0	6	141				
DDHD2	23259	broad.mit.edu	37	8	38095663	38095663	+	Silent	SNP	G	G	A	rs149994413	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:38095663G>A	ENST00000397166.2	+	5	1083	c.558G>A	c.(556-558)acG>acA	p.T186T	DDHD2_ENST00000520272.2_Silent_p.T186T	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	186			T -> M (in dbSNP:rs2306899). {ECO:0000269|PubMed:9872452}.		cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CAACACCCACGGAGCAGGGTC	0.408																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(556-558)acG>acA		DDHD domain containing 2		G	,,	0,4406		0,0,2203	213.0	193.0	200.0		558,558,558	-10.3	0.2	8	dbSNP_134	200	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	DDHD2	NM_001164232.1,NM_001164234.1,NM_015214.2	,,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,,	186/712,186/228,186/712	38095663	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38095663G>A	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.558G>A	8.37:g.38095663G>A						DDHD2_ENST00000520272.2_Silent_p.T186T	p.T186T	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		5	1083	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	186		T -> M (in dbSNP:rs2306899).			B3KWV2|B3KXB5|Q9H8X7	Silent	SNP	ENST00000397166.2	37	c.558G>A	CCDS34883.1																																																																																				0.408	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		20	7	0	0	0	1	0	20	7				
PDE4DIP	9659	broad.mit.edu	37	1	144855783	144855783	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:144855783G>A	ENST00000369354.3	-	41	6959	c.6770C>T	c.(6769-6771)gCg>gTg	p.A2257V	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2257V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2151V|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2393V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2342V|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2257					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.A2257V(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGCAGGGCCGCTCTCCAGAA	0.572			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)	p.A2257V(2)	lung(2)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(7177-7179)gCg>gTg		phosphodiesterase 4D interacting protein							55.0	51.0	53.0					1																	144855783		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144855783G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6770C>T	1.37:g.144855783G>A	ENSP00000358360:p.Ala2257Val					PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2257V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2257V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2151V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2342V	p.A2393V			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	44	7216	-			2257					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.7178C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	34	5.357869	0.95854	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01821	4.62;4.67;4.67;4.74;4.67	4.87	3.95	0.45737	.	.	.	.	.	T	0.01156	0.0038	L	0.38733	1.17	0.80722	D	1	D;D	0.69078	0.975;0.997	P;P	0.50049	0.505;0.629	T	0.72808	-0.4181	9	0.18276	T	0.48	.	10.2192	0.43188	0.0976:0.0:0.9024:0.0	.	2151;2257	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	2151;2257;2257;2342;2393	ENSP00000327209:A2151V;ENSP00000358360:A2257V;ENSP00000358363:A2257V;ENSP00000435654:A2342V;ENSP00000358366:A2393V	ENSP00000327209:A2151V	A	-	2	0	PDE4DIP	143567140	1.000000	0.71417	0.459000	0.27081	0.667000	0.39255	4.730000	0.62015	2.262000	0.75019	0.549000	0.68633	GCG		0.572	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		6	69	0	0	0	1	0	6	69				
MEIS2	4212	broad.mit.edu	37	15	37390250	37390250	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr15:37390250C>T	ENST00000561208.1	-	2	581	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	MEIS2_ENST00000559561.1_Missense_Mutation_p.A55T|MEIS2_ENST00000424352.2_Missense_Mutation_p.A55T|MEIS2_ENST00000444725.1_Missense_Mutation_p.A55T|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000557796.2_Missense_Mutation_p.A42T|MEIS2_ENST00000382766.2_Missense_Mutation_p.A55T|MEIS2_ENST00000559085.1_Missense_Mutation_p.A42T|MEIS2_ENST00000397624.3_5'UTR|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000340545.5_Missense_Mutation_p.A42T|MEIS2_ENST00000338564.5_Missense_Mutation_p.A55T			O14770	MEIS2_HUMAN	Meis homeobox 2	55					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGGTGCGGGGCGTGCGCGCCG	0.667																																						ENST00000338564.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(163-165)Gcc>Acc		Meis homeobox 2							58.0	59.0	59.0					15																	37390250		2201	4297	6498	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37390250C>T	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.163G>A	15.37:g.37390250C>T	ENSP00000453793:p.Ala55Thr					MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.A55T|MEIS2_ENST00000340545.5_Missense_Mutation_p.A42T|MEIS2_ENST00000444725.1_Missense_Mutation_p.A55T|MEIS2_ENST00000424352.2_Missense_Mutation_p.A55T|MEIS2_ENST00000559561.1_Missense_Mutation_p.A55T|MEIS2_ENST00000561208.1_Missense_Mutation_p.A55T|MEIS2_ENST00000557796.2_Missense_Mutation_p.A42T|MEIS2_ENST00000559085.1_Missense_Mutation_p.A42T|MEIS2_ENST00000219869.9_5'UTR	p.A55T	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	3	609	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	55					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.163G>A	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277035	0.59758	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	N	0.14661	0.345	0.58432	D	0.999999	B;B;B;B;P;B	0.38863	0.003;0.005;0.006;0.005;0.65;0.003	B;B;B;B;B;B	0.32583	0.002;0.006;0.008;0.002;0.148;0.001	T	0.06935	-1.0799	10	0.10111	T	0.7	-7.3411	19.0381	0.92987	0.0:1.0:0.0:0.0	.	42;55;55;55;55;42	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP98	.;.;MEIS2_HUMAN;.;.;.	T	55;55;55;55;55;42;42	ENSP00000326296:A55T;ENSP00000341400:A55T;ENSP00000372216:A55T;ENSP00000404185:A55T;ENSP00000391887:A55T;ENSP00000339549:A42T	ENSP00000326296:A55T	A	-	1	0	MEIS2	35177542	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.684000	0.68197	2.568000	0.86640	0.655000	0.94253	GCC		0.667	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		36	7	0	0	0	1	0	36	7				
HSPA5	3309	broad.mit.edu	37	9	128003021	128003021	+	Silent	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:128003021C>T	ENST00000324460.6	-	2	491	c.288G>A	c.(286-288)aaG>aaA	p.K96K	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	96					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	CGATGAGCCGCTTGGCGTCAA	0.567										Prostate(1;0.17)																												ENST00000324460.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(286-288)aaG>aaA		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						108.0	110.0	109.0					9																	128003021		2203	4300	6503	SO:0001819	synonymous_variant	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128003021C>T		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.288G>A	9.37:g.128003021C>T		Prostate(1;0.17)					p.K96K	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			2	491	-			96					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Silent	SNP	ENST00000324460.6	37	c.288G>A	CCDS6863.1																																																																																				0.567	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			34	63	0	0	0	1	0	34	63				
ULBP2	80328	broad.mit.edu	37	6	150267643	150267643	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:150267643A>C	ENST00000367351.3	+	3	558	c.485A>C	c.(484-486)cAt>cCt	p.H162P		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	162	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		ACAACGGTTCATCCTGGAGCC	0.473																																						ENST00000367351.3																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10						c.(484-486)cAt>cCt		UL16 binding protein 2							231.0	213.0	219.0					6																	150267643		2203	4300	6503	SO:0001583	missense	80328				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity	g.chr6:150267643A>C	AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.485A>C	6.37:g.150267643A>C	ENSP00000356320:p.His162Pro						p.H162P	NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	558	+		Ovarian(120;0.0907)	162			MHC class I alpha-2 like.		Q5VUN4	Missense_Mutation	SNP	ENST00000367351.3	37	c.485A>C	CCDS5222.1	.	.	.	.	.	.	.	.	.	.	-	13.78	2.339123	0.41398	.	.	ENSG00000131015	ENST00000367351	T	0.06849	3.25	2.26	-3.71	0.04424	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.06188	0.0160	M	0.79258	2.445	0.09310	N	1	P;P	0.43662	0.684;0.814	P;P	0.51266	0.514;0.664	T	0.12400	-1.0549	9	0.66056	D	0.02	.	2.2935	0.04144	0.4008:0.0:0.1533:0.4459	.	162;162	B4DSS7;Q9BZM5	.;N2DL2_HUMAN	P	162	ENSP00000356320:H162P	ENSP00000356320:H162P	H	+	2	0	ULBP2	150309336	0.000000	0.05858	0.000000	0.03702	0.352000	0.29268	-1.125000	0.03257	-0.839000	0.04212	0.155000	0.16302	CAT		0.473	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042669.1			32	182	0	0	0	1	0	32	182				
USP50	373509	broad.mit.edu	37	15	50838720	50838720	+	Start_Codon_SNP	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr15:50838720C>A	ENST00000532404.1	-	1	176	c.3G>T	c.(1-3)atG>atT	p.M1I	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	1					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		GCTGAGAAGTCATTTTAATGG	0.443																																						ENST00000532404.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13						c.(1-3)atG>atT		ubiquitin specific peptidase 50							158.0	155.0	156.0					15																	50838720		1977	4178	6155	SO:0001582	initiator_codon_variant	373509				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr15:50838720C>A	AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"""Ubiquitin-specific peptidases"""	20079	protein-coding gene	gene with protein product			"""ubiquitin specific protease 50"""			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.3G>T	15.37:g.50838720C>A	ENSP00000434676:p.Met1Ile					USP50_ENST00000530218.1_5'UTR	p.M1I	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN		all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)	1	176	-			1					E9PP86	Translation_Start_Site	SNP	ENST00000532404.1	37	c.3G>T	CCDS53944.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132937	0.56828	.	.	ENSG00000170236	ENST00000532404	T	0.26067	1.76	5.0	5.0	0.66597	.	3.478730	0.01607	U	0.022348	T	0.52058	0.1711	.	.	.	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.03619	-1.1019	9	0.59425	D	0.04	-23.625	13.8107	0.63262	0.0:1.0:0.0:0.0	.	1	Q70EL3	UBP50_HUMAN	I	1	ENSP00000434676:M1I	ENSP00000434676:M1I	M	-	3	0	USP50	48626012	1.000000	0.71417	0.988000	0.46212	0.151000	0.21798	3.519000	0.53458	2.328000	0.79073	0.508000	0.49915	ATG		0.443	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1		Missense_Mutation	23	7	1	0	1.10513e-12	1	1.26588e-12	23	7				
MUC4	4585	broad.mit.edu	37	3	195510912	195510912	+	Silent	SNP	T	T	A	rs375349481	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:195510912T>A	ENST00000463781.3	-	2	7998	c.7539A>T	c.(7537-7539)ctA>ctT	p.L2513L	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.L2513L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGGTGACAGGTAGAGGGGTGG	0.562													.|||	9	0.00179712	0.0008	0.0	5008	,	,		15301	0.003		0.004	False		,,,				2504	0.001					ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(7537-7539)ctA>ctT		mucin 4, cell surface associated							89.0	72.0	77.0					3																	195510912		661	1591	2252	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195510912T>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7539A>T	3.37:g.195510912T>A						MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.L2513L	p.L2513L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7998	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	272					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.7539A>T	CCDS54700.1																																																																																				0.562	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	10	0	0	0	1	0	3	10				
TBK1	29110	broad.mit.edu	37	12	64873902	64873902	+	Splice_Site	SNP	G	G	A	rs56196591	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:64873902G>A	ENST00000331710.5	+	7	1151	c.812G>A	c.(811-813)cGg>cAg	p.R271Q		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in dbSNP:rs56196591). {ECO:0000269|PubMed:17344846}.		defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AGTCTTTCTCGGTAAGTATGG	0.398													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19265	0.0		0.0	False		,,,				2504	0.0					ENST00000331710.5																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.e7+1		TANK-binding kinase 1		G	GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	179.0	170.0	173.0		812	2.8	0.9	12	dbSNP_129	173	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice	TBK1	NM_013254.3	43	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	benign	271/730	64873902	6,13000	2203	4300	6503	SO:0001630	splice_region_variant	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64873902G>A	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.812+1G>A	12.37:g.64873902G>A							p.R271_splice	NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	7	1151	+			271		R -> Q (in dbSNP:rs56196591).	Protein kinase.		A8K4S4|Q8IYV3|Q9NUJ5	Splice_Site	SNP	ENST00000331710.5	37	c.812_splice	CCDS8968.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.019	0.371830	0.11409	0.001135	1.16E-4	ENSG00000183735	ENST00000331710	T	0.39592	1.07	4.71	2.85	0.33270	Protein kinase, catalytic domain (1);	0.286036	0.37393	N	0.002108	T	0.15825	0.0381	N	0.04335	-0.225	0.31808	N	0.627498	B	0.02656	0.0	B	0.01281	0.0	T	0.10894	-1.0610	9	.	.	.	-6.1395	3.3565	0.07171	0.3493:0.0:0.4721:0.1786	rs56196591	271	Q9UHD2	TBK1_HUMAN	Q	271	ENSP00000329967:R271Q	.	R	+	2	0	TBK1	63160169	1.000000	0.71417	0.918000	0.36340	0.442000	0.32017	1.227000	0.32576	0.518000	0.28383	0.585000	0.79938	CGG		0.398	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254	Missense_Mutation	14	36	0	0	0	1	0	14	36				
PCMTD1	115294	broad.mit.edu	37	8	52773451	52773451	+	Silent	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:52773451C>A	ENST00000360540.5	-	3	667	c.261G>T	c.(259-261)ctG>ctT	p.L87L	PCMTD1_ENST00000522514.1_Silent_p.L87L|PCMTD1_ENST00000521344.1_Silent_p.L87L|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000519559.1_Intron	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	87						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTCCACTTCCCAGGTTAAGAA	0.333																																						ENST00000360540.5																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(259-261)ctG>ctT		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							82.0	78.0	79.0					8																	52773451		2203	4300	6503	SO:0001819	synonymous_variant	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52773451C>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.261G>T	8.37:g.52773451C>A						PCMTD1_ENST00000521344.1_Silent_p.L87L|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000522514.1_Silent_p.L87L	p.L87L	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN			3	667	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	87					Q96FK9	Silent	SNP	ENST00000360540.5	37	c.261G>T	CCDS6148.1																																																																																				0.333	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		28	84	1	0	4.74835e-14	1	5.48892e-14	28	84				
OGT	8473	broad.mit.edu	37	X	70784520	70784520	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chrX:70784520G>A	ENST00000373719.3	+	19	2723	c.2506G>A	c.(2506-2508)Ggg>Agg	p.G836R	OGT_ENST00000373701.3_Missense_Mutation_p.G826R	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	836					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTCTCAGTACGGGTTACCAGA	0.398																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2506-2508)Ggg>Agg		O-linked N-acetylglucosamine (GlcNAc) transferase							129.0	105.0	113.0					X																	70784520		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70784520G>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2506G>A	X.37:g.70784520G>A	ENSP00000362824:p.Gly836Arg					OGT_ENST00000373701.3_Missense_Mutation_p.G826R	p.G836R	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			19	2723	+	Renal(35;0.156)		836					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.2506G>A	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209146	0.39003	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.16897	2.31;2.31	5.15	5.15	0.70609	.	0.096996	0.64402	D	0.000001	T	0.27731	0.0682	M	0.79693	2.465	0.80722	D	1	P;B;P	0.40431	0.713;0.327;0.717	B;B;B	0.38296	0.182;0.044;0.27	T	0.18903	-1.0322	10	0.59425	D	0.04	.	18.0587	0.89370	0.0:0.0:1.0:0.0	.	710;826;836	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	R	836;826	ENSP00000362824:G836R;ENSP00000362805:G826R	ENSP00000362805:G826R	G	+	1	0	OGT	70701245	1.000000	0.71417	0.966000	0.40874	0.042000	0.13812	9.778000	0.99011	2.288000	0.76882	0.544000	0.68410	GGG		0.398	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		12	16	0	0	0	1	0	12	16				
OR4A47	403253	broad.mit.edu	37	11	48511046	48511046	+	Silent	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:48511046C>A	ENST00000446524.1	+	1	778	c.702C>A	c.(700-702)gcC>gcA	p.A234A		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGCAAAAAGCCCTCTCAACCT	0.433																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(700-702)gcC>gcA		olfactory receptor, family 4, subfamily A, member 47							145.0	140.0	142.0					11																	48511046		2201	4298	6499	SO:0001819	synonymous_variant	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511046C>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.702C>A	11.37:g.48511046C>A							p.A234A	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	778	+			234						Silent	SNP	ENST00000446524.1	37	c.702C>A	CCDS31490.1																																																																																				0.433	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		12	166	1	0	0.000978159	1	0.0010534	12	166				
P2RX3	5024	broad.mit.edu	37	11	57114099	57114099	+	Silent	SNP	C	C	T	rs199590234	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:57114099C>T	ENST00000263314.2	+	2	235	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	67					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TGAAGGGCTCCGGACTCTACG	0.557													C|||	3	0.000599042	0.0	0.0	5008	,	,		21376	0.001		0.0	False		,,,				2504	0.002					ENST00000263314.2																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						c.(199-201)tcC>tcT		purinergic receptor P2X, ligand-gated ion channel, 3		C		0,4402		0,0,2201	142.0	100.0	114.0		201	-4.1	0.9	11		114	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous	P2RX3	NM_002559.3		0,2,6495	TT,TC,CC		0.0233,0.0,0.0154		67/398	57114099	2,12992	2201	4296	6497	SO:0001819	synonymous_variant	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57114099C>T	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.201C>T	11.37:g.57114099C>T							p.S67S	NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN			2	235	+			67					Q6DK37|Q9UQB6	Silent	SNP	ENST00000263314.2	37	c.201C>T	CCDS7953.1																																																																																				0.557	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		4	65	0	0	0	1	0	4	65				
PROM2	150696	broad.mit.edu	37	2	95954317	95954317	+	Silent	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:95954317T>C	ENST00000317620.9	+	22	2554	c.2421T>C	c.(2419-2421)cgT>cgC	p.R807R	PROM2_ENST00000317668.4_Silent_p.R807R|PROM2_ENST00000403131.2_Silent_p.R807R|PROM2_ENST00000542147.1_Silent_p.R758R	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	807					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AATACTTCCGTCCTATCCGGA	0.602																																						ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(2419-2421)cgT>cgC		prominin 2							140.0	109.0	119.0					2																	95954317		2203	4300	6503	SO:0001819	synonymous_variant	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95954317T>C	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.2421T>C	2.37:g.95954317T>C						PROM2_ENST00000317668.4_Silent_p.R807R|PROM2_ENST00000403131.2_Silent_p.R807R|PROM2_ENST00000542147.1_Silent_p.R758R	p.R807R	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			22	2554	+			807					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	c.2421T>C	CCDS2012.1																																																																																				0.602	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		6	127	0	0	0	1	0	6	127				
RYR2	6262	broad.mit.edu	37	1	237586402	237586402	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:237586402A>T	ENST00000366574.2	+	12	1176	c.859A>T	c.(859-861)Agc>Tgc	p.S287C	RYR2_ENST00000360064.6_Missense_Mutation_p.S285C|RYR2_ENST00000542537.1_Missense_Mutation_p.S271C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	287	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.S285G(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGGAGTGGAAGCCACATAAG	0.423																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.S285G(1)	kidney(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(859-861)Agc>Tgc		ryanodine receptor 2 (cardiac)							153.0	149.0	151.0					1																	237586402		1929	4134	6063	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237586402A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.859A>T	1.37:g.237586402A>T	ENSP00000355533:p.Ser287Cys					RYR2_ENST00000360064.6_Missense_Mutation_p.S285C|RYR2_ENST00000542537.1_Missense_Mutation_p.S271C	p.S287C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		12	1176	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	287			MIR 4.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.859A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693117	0.88735	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91894	-2.93;-2.93;-2.93	5.42	5.42	0.78866	MIR motif (2);MIR (2);	0.126896	0.49305	D	0.000154	D	0.95815	0.8638	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.96309	0.9227	10	0.72032	D	0.01	.	15.4489	0.75257	1.0:0.0:0.0:0.0	.	287	Q92736	RYR2_HUMAN	C	287;285;271	ENSP00000355533:S287C;ENSP00000353174:S285C;ENSP00000443798:S271C	ENSP00000353174:S285C	S	+	1	0	RYR2	235653025	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.442000	0.80503	2.054000	0.61138	0.533000	0.62120	AGC		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	131	0	0	0	1	0	4	131				
ATP13A4	84239	broad.mit.edu	37	3	193188759	193188759	+	Missense_Mutation	SNP	G	G	T	rs371143653		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:193188759G>T	ENST00000342695.4	-	9	1154	c.832C>A	c.(832-834)Cgc>Agc	p.R278S	ATP13A4_ENST00000295548.3_Missense_Mutation_p.R278S|ATP13A4_ENST00000392443.3_Missense_Mutation_p.R278S	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	278						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ACCAGGACGCGTGATTCCAGC	0.443																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(832-834)Cgc>Agc		ATPase type 13A4							145.0	143.0	144.0					3																	193188759		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193188759G>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.832C>A	3.37:g.193188759G>T	ENSP00000339182:p.Arg278Ser					ATP13A4_ENST00000295548.3_Missense_Mutation_p.R278S|ATP13A4_ENST00000392443.3_Missense_Mutation_p.R278S	p.R278S	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	9	1154	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		278					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.832C>A	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732415	0.48939	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.90385	-2.66;-2.66;-2.66	5.44	3.62	0.41486	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.502926	0.20156	N	0.098060	D	0.86797	0.6019	N	0.21617	0.685	0.09310	N	0.999993	P;P	0.42785	0.79;0.726	P;P	0.53912	0.693;0.737	T	0.75895	-0.3156	10	0.05833	T	0.94	-16.1724	10.7777	0.46358	0.1538:0.0:0.8462:0.0	.	278;278	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	S	278	ENSP00000376238:R278S;ENSP00000339182:R278S;ENSP00000295548:R278S	ENSP00000295548:R278S	R	-	1	0	ATP13A4	194671453	0.006000	0.16342	0.835000	0.33067	0.271000	0.26615	1.203000	0.32284	1.281000	0.44480	0.650000	0.86243	CGC		0.443	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		29	220	1	0	1.13719e-10	1	1.29086e-10	29	220				
CPA6	57094	broad.mit.edu	37	8	68397009	68397009	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:68397009T>G	ENST00000297770.4	-	7	867	c.652A>C	c.(652-654)Aag>Cag	p.K218Q	CPA6_ENST00000297769.4_Missense_Mutation_p.K70Q|CPA6_ENST00000518549.1_Missense_Mutation_p.K218Q	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	218						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GGGTCACTCTTATATGTTAGA	0.353																																						ENST00000297770.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26						c.(652-654)Aag>Cag		carboxypeptidase A6							80.0	71.0	74.0					8																	68397009		2203	4300	6503	SO:0001583	missense	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68397009T>G	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.652A>C	8.37:g.68397009T>G	ENSP00000297770:p.Lys218Gln					CPA6_ENST00000518549.1_Missense_Mutation_p.K218Q|CPA6_ENST00000297769.4_Missense_Mutation_p.K70Q	p.K218Q	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		7	867	-			218					Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	c.652A>C	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.483405	0.26598	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.30714	1.52;1.52;3.91	5.25	1.45	0.22620	Peptidase M14, carboxypeptidase A (2);	0.176985	0.50627	D	0.000101	T	0.19087	0.0458	N	0.20401	0.57	0.24052	N	0.99605	B;B;B	0.13594	0.005;0.008;0.001	B;B;B	0.10450	0.005;0.004;0.002	T	0.18745	-1.0327	10	0.35671	T	0.21	.	12.5306	0.56113	0.0:0.0:0.6542:0.3458	.	218;70;218	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	Q	70;218;218	ENSP00000297769:K70Q;ENSP00000297770:K218Q;ENSP00000431112:K218Q	ENSP00000297769:K70Q	K	-	1	0	CPA6	68559563	1.000000	0.71417	0.326000	0.25389	0.650000	0.38633	2.212000	0.42835	0.388000	0.25054	-0.332000	0.08345	AAG		0.353	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		7	87	0	0	0	1	0	7	87				
ZAN	7455	broad.mit.edu	37	7	100355878	100355878	+	RNA	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:100355878C>T	ENST00000348028.3	+	0	3528				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCTGGCCCGGCAGTCGGG	0.587																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							35.0	39.0	38.0					7																	100355878		2070	4214	6284			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100355878C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100355878C>T						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3511	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.587	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		10	36	0	0	0	1	0	10	36				
MAP3K4	4216	broad.mit.edu	37	6	161529829	161529829	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:161529829A>C	ENST00000392142.4	+	22	4322	c.4174A>C	c.(4174-4176)Aaa>Caa	p.K1392Q	MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1338Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1342Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1388Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1392	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGACGAATTGAAAATATTCGA	0.408																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(4174-4176)Aaa>Caa		mitogen-activated protein kinase kinase kinase 4							165.0	160.0	162.0					6																	161529829		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161529829A>C	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4174A>C	6.37:g.161529829A>C	ENSP00000375986:p.Lys1392Gln					MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1338Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1342Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1388Q	p.K1392Q	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	22	4322	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1392			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.4174A>C	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895464	0.72639	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	4.51	4.51	0.55191	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.37466	1.105	0.58432	D	0.999998	B;B;B;B	0.17268	0.021;0.004;0.007;0.02	B;B;B;B	0.27170	0.055;0.006;0.019;0.077	T	0.47995	-0.9073	10	0.56958	D	0.05	-14.6896	12.6724	0.56874	1.0:0.0:0.0:0.0	.	1388;328;1342;1392	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	Q	1342;1392;1342;1388;1338	ENSP00000355886:K1342Q;ENSP00000375986:K1392Q;ENSP00000355887:K1388Q;ENSP00000297332:K1338Q	ENSP00000297332:K1338Q	K	+	1	0	MAP3K4	161449819	1.000000	0.71417	0.774000	0.31636	0.753000	0.42808	9.245000	0.95431	1.800000	0.52685	0.528000	0.53228	AAA		0.408	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			82	77	0	0	0	1	0	82	77				
PTP4A3	11156	broad.mit.edu	37	8	142432356	142432356	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:142432356C>T	ENST00000521578.1	+	2	961	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	PTP4A3_ENST00000520105.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000349124.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000524028.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000329397.1_Missense_Mutation_p.R6C			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	6					peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TCGGATGAACCGCCCGGCCCC	0.642																																						ENST00000520105.1																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(16-18)Cgc>Tgc		protein tyrosine phosphatase type IVA, member 3							72.0	74.0	73.0					8																	142432356		2202	4300	6502	SO:0001583	missense	11156					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:142432356C>T	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.16C>T	8.37:g.142432356C>T	ENSP00000428976:p.Arg6Cys					PTP4A3_ENST00000524028.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000349124.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000329397.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000521578.1_Missense_Mutation_p.R6C	p.R6C			O75365	TP4A3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0474)		2	959	+	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		6					Q8IVN5|Q99849|Q9BTW5	Missense_Mutation	SNP	ENST00000521578.1	37	c.16C>T	CCDS6383.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165876	0.78339	.	.	ENSG00000184489	ENST00000521578;ENST00000520105;ENST00000523147;ENST00000329397;ENST00000349124;ENST00000524028	D;T;D;T	0.95518	-3.73;0.77;-3.73;0.77	4.89	4.89	0.63831	.	0.059882	0.64402	D	0.000002	D	0.96204	0.8762	L	0.60067	1.865	0.80722	D	1	D;B	0.76494	0.999;0.037	P;B	0.56700	0.804;0.038	D	0.96466	0.9345	10	0.59425	D	0.04	-61.103	16.6165	0.84917	0.0:1.0:0.0:0.0	.	6;6	O75365-2;O75365	.;TP4A3_HUMAN	C	6	ENSP00000428976:R6C;ENSP00000428758:R6C;ENSP00000332274:R6C;ENSP00000331730:R6C	ENSP00000332274:R6C	R	+	1	0	PTP4A3	142501538	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	2.886000	0.48578	2.268000	0.75426	0.491000	0.48974	CGC		0.642	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		32	186	0	0	0	1	0	32	186				
DNM2	1785	broad.mit.edu	37	19	10906831	10906831	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:10906831G>C	ENST00000355667.6	+	10	1371	c.1291G>C	c.(1291-1293)Gtt>Ctt	p.V431L	DNM2_ENST00000585892.1_Missense_Mutation_p.V431L|DNM2_ENST00000389253.4_Intron|DNM2_ENST00000314646.5_Intron|DNM2_ENST00000408974.4_Intron|DNM2_ENST00000359692.6_Missense_Mutation_p.V431L	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	431					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGTCGACCTGGTTATCCAGGA	0.532			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000359692.6				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1291-1293)Gtt>Ctt		dynamin 2							171.0	154.0	160.0					19																	10906831		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10906831G>C		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1291G>C	19.37:g.10906831G>C	ENSP00000347890:p.Val431Leu					DNM2_ENST00000389253.4_Intron|DNM2_ENST00000408974.4_Intron|DNM2_ENST00000585892.1_Missense_Mutation_p.V431L|DNM2_ENST00000355667.6_Missense_Mutation_p.V431L|DNM2_ENST00000314646.5_Intron	p.V431L	NM_004945.3	NP_004936.2	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		10	1441	+			431					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1291G>C	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836030	0.91117	.	.	ENSG00000079805	ENST00000355667;ENST00000359692	D;D	0.82255	-1.59;-1.59	4.59	4.59	0.56863	Dynamin central domain (1);Pleckstrin homology-type (1);	.	.	.	.	D	0.94525	0.8237	H	0.97829	4.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.99	D	0.96760	0.9560	9	0.87932	D	0	.	16.1837	0.81929	0.0:0.0:1.0:0.0	.	25;431;431	Q8N1K8;P50570-2;P50570	.;.;DYN2_HUMAN	L	431	ENSP00000347890:V431L;ENSP00000352721:V431L	ENSP00000347890:V431L	V	+	1	0	DNM2	10767831	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.830000	0.99415	2.102000	0.63906	0.561000	0.74099	GTT		0.532	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		38	133	0	0	0	1	0	38	133				
RNF214	257160	broad.mit.edu	37	11	117152658	117152658	+	Missense_Mutation	SNP	C	C	T	rs375077963		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:117152658C>T	ENST00000531452.1	+	11	1430	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	RNF214_ENST00000524917.1_Intron|RNF214_ENST00000531287.1_Missense_Mutation_p.R307W|RNF214_ENST00000530849.1_Missense_Mutation_p.R307W|RNF214_ENST00000300650.4_Missense_Mutation_p.R462W	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	462	Pro-rich.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TCTGGCTCCTCGGATGCCCTT	0.527																																						ENST00000530849.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(919-921)Cgg>Tgg		ring finger protein 214		C	TRP/ARG,TRP/ARG	1,3979		0,1,1989	189.0	189.0	189.0		1384,1384	5.7	1.0	11		189	0,8316		0,0,4158	no	missense,missense	RNF214	NM_001077239.1,NM_207343.2	101,101	0,1,6147	TT,TC,CC		0.0,0.0251,0.0081	probably-damaging,probably-damaging	462/704,462/704	117152658	1,12295	1990	4158	6148	SO:0001583	missense	257160						zinc ion binding	g.chr11:117152658C>T	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1384C>T	11.37:g.117152658C>T	ENSP00000431643:p.Arg462Trp					RNF214_ENST00000531287.1_Missense_Mutation_p.R307W|RNF214_ENST00000531452.1_Missense_Mutation_p.R462W|RNF214_ENST00000300650.4_Missense_Mutation_p.R462W|RNF214_ENST00000524917.1_Intron	p.R307W			Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	10	929	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	462					B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.919C>T	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130436	0.77549	2.51E-4	0.0	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650;ENST00000534709	T;T;T;T	0.48522	0.81;1.09;1.09;1.09	5.67	5.67	0.87782	.	0.152498	0.44688	D	0.000427	T	0.65154	0.2664	L	0.57536	1.79	0.37286	D	0.908069	D;D	0.89917	1.0;1.0	D;D	0.79108	0.988;0.992	T	0.70245	-0.4925	10	0.66056	D	0.02	-7.4599	15.2311	0.73390	0.1408:0.8592:0.0:0.0	.	307;462	B4DTD1;Q8ND24	.;RN214_HUMAN	W	307;462;307;462;14	ENSP00000435361:R307W;ENSP00000431643:R462W;ENSP00000432903:R307W;ENSP00000300650:R462W	ENSP00000300650:R462W	R	+	1	2	RNF214	116657868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.017000	0.29989	2.676000	0.91093	0.561000	0.74099	CGG		0.527	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		72	113	0	0	0	1	0	72	113				
ARMC1	55156	broad.mit.edu	37	8	66525567	66525567	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:66525567G>T	ENST00000276569.3	-	4	621	c.377C>A	c.(376-378)tCa>tAa	p.S126*	ARMC1_ENST00000458464.2_Intron|ARMC1_ENST00000523384.1_5'Flank	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	126					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CCTTCGACGTGAATTCATCTC	0.398																																						ENST00000276569.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14						c.(376-378)tCa>tAa		armadillo repeat containing 1							150.0	140.0	143.0					8																	66525567		2203	4300	6503	SO:0001587	stop_gained	55156				metal ion transport		metal ion binding	g.chr8:66525567G>T	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.377C>A	8.37:g.66525567G>T	ENSP00000276569:p.Ser126*					ARMC1_ENST00000458464.2_Intron	p.S126*	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		4	621	-			126					B4E2W7|Q9H018|Q9H820	Nonsense_Mutation	SNP	ENST00000276569.3	37	c.377C>A	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	G	38	6.922103	0.97936	.	.	ENSG00000104442	ENST00000276569;ENST00000518908	.	.	.	6.02	6.02	0.97574	.	0.052578	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1533	0.81636	0.0:0.0:0.8588:0.1412	.	.	.	.	X	126	.	ENSP00000276569:S126X	S	-	2	0	ARMC1	66688121	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.210000	0.77924	2.865000	0.98341	0.655000	0.94253	TCA		0.398	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		27	100	1	0	4.7796e-09	1	5.37705e-09	27	100				
RP1-274L7.1	0	broad.mit.edu	37	X	129629216	129629216	+	lincRNA	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chrX:129629216G>T	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							AAGTTCTGTGGGTGTGGTGTT	0.532																																						ENST00000458525.1																			0																				98.0	91.0	93.0					X																	129629216		2203	4300	6503			0							g.chrX:129629216G>T																													X.37:g.129629216G>T						FAM45B_ENST00000592932.1_RNA								0	1015	-									RNA	SNP	ENST00000458525.1	37																																																																																						0.532	RP1-274L7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000058271.1			11	48	1	0	0.00316338	1	0.00334946	11	48				
NR3C2	4306	broad.mit.edu	37	4	149357868	149357868	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr4:149357868T>C	ENST00000358102.3	-	2	507	c.145A>G	c.(145-147)Agc>Ggc	p.S49G	NR3C2_ENST00000355292.3_Missense_Mutation_p.S49G|NR3C2_ENST00000344721.4_Missense_Mutation_p.S49G|NR3C2_ENST00000511528.1_Missense_Mutation_p.S49G|NR3C2_ENST00000512865.1_Missense_Mutation_p.S49G	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	49	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GAAACACAGCTTACGTTGACA	0.483																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(145-147)Agc>Ggc		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						161.0	154.0	156.0					4																	149357868		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149357868T>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.145A>G	4.37:g.149357868T>C	ENSP00000350815:p.Ser49Gly					NR3C2_ENST00000512865.1_Missense_Mutation_p.S49G|NR3C2_ENST00000511528.1_Missense_Mutation_p.S49G|NR3C2_ENST00000358102.3_Missense_Mutation_p.S49G|NR3C2_ENST00000344721.4_Missense_Mutation_p.S49G|NR3C2_ENST00000342437.4_Missense_Mutation_p.S49G	p.S49G			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	507	-	all_hematologic(180;0.151)		49			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.145A>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.322285	0.41096	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.91945	-2.93;-2.94;-2.93;-2.56;-2.53;-2.94	5.92	4.73	0.59995	.	0.080241	0.85682	D	0.000000	D	0.87402	0.6168	L	0.40543	1.245	0.41304	D	0.987065	B;B	0.24368	0.089;0.102	B;B	0.20577	0.03;0.021	T	0.82210	-0.0570	9	.	.	.	.	13.3209	0.60432	0.0:0.0:0.132:0.868	.	49;49	B0ZBF5;B0ZBF6	.;.	G	49	ENSP00000341390:S49G;ENSP00000347441:S49G;ENSP00000350815:S49G;ENSP00000423510:S49G;ENSP00000343907:S49G;ENSP00000421481:S49G	.	S	-	1	0	NR3C2	149577318	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	5.947000	0.70242	1.054000	0.40438	0.533000	0.62120	AGC		0.483	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			19	44	0	0	0	1	0	19	44				
SLCO4C1	353189	broad.mit.edu	37	5	101576467	101576467	+	Silent	SNP	G	G	T	rs374536178		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:101576467G>T	ENST00000310954.6	-	11	2117	c.1831C>A	c.(1831-1833)Cgg>Agg	p.R611R		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCTAGGGACCGTTGTCTGTGA	0.338																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1831-1833)Cgg>Agg		solute carrier organic anion transporter family, member 4C1							131.0	140.0	137.0					5																	101576467		2203	4298	6501	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101576467G>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1831C>A	5.37:g.101576467G>T							p.R611R	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	11	2117	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	611						Silent	SNP	ENST00000310954.6	37	c.1831C>A	CCDS34205.1																																																																																				0.338	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		26	30	1	0	2.61193e-14	1	3.07573e-14	26	30				
SLC27A6	28965	broad.mit.edu	37	5	128362947	128362947	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:128362947C>G	ENST00000262462.4	+	7	2387	c.1377C>G	c.(1375-1377)taC>taG	p.Y459*	SLC27A6_ENST00000395266.1_Nonsense_Mutation_p.Y459*|SLC27A6_ENST00000506176.1_Nonsense_Mutation_p.Y459*			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	459					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAGATGTTTACCTTAATACTG	0.388																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(1375-1377)taC>taG		solute carrier family 27 (fatty acid transporter), member 6							130.0	122.0	125.0					5																	128362947		2203	4300	6503	SO:0001587	stop_gained	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128362947C>G	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1377C>G	5.37:g.128362947C>G	ENSP00000262462:p.Tyr459*					SLC27A6_ENST00000395266.1_Nonsense_Mutation_p.Y459*|SLC27A6_ENST00000506176.1_Nonsense_Mutation_p.Y459*	p.Y459*			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	7	2387	+		all_cancers(142;0.0483)|Prostate(80;0.055)	459					Q6IAM5|Q7Z6E6|Q86YF6	Nonsense_Mutation	SNP	ENST00000262462.4	37	c.1377C>G	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	39	7.361020	0.98235	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	.	.	.	4.52	1.77	0.24775	.	0.057208	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1616	2.8398	0.05525	0.1963:0.4044:0.0:0.3992	.	.	.	.	X	459	.	.	Y	+	3	2	SLC27A6	128390846	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	1.718000	0.38001	0.404000	0.25506	0.460000	0.39030	TAC		0.388	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		21	60	0	0	0	1	0	21	60				
MMP25	64386	broad.mit.edu	37	16	3107185	3107185	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr16:3107185C>G	ENST00000336577.4	+	5	1050	c.813C>G	c.(811-813)gaC>gaG	p.D271E	RP11-473M20.7_ENST00000572930.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	275					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CTCAGGATGACCGCGATGGCC	0.642																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						c.(811-813)gaC>gaG		matrix metallopeptidase 25							122.0	126.0	125.0					16																	3107185		2197	4300	6497	SO:0001583	missense	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3107185C>G	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.813C>G	16.37:g.3107185C>G	ENSP00000337816:p.Asp271Glu					RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA	p.D271E	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN			5	1050	+			271					Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	37	c.813C>G	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	c	15.32	2.799633	0.50208	.	.	ENSG00000008516	ENST00000336577	T	0.58652	0.32	4.67	3.71	0.42584	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.51477	D	0.000095	T	0.78616	0.4311	M	0.93375	3.41	0.44330	D	0.997218	D	0.89917	1.0	D	0.97110	1.0	T	0.79603	-0.1735	10	0.87932	D	0	.	7.1047	0.25356	0.0:0.7952:0.0:0.2048	.	271	Q9NPA2	MMP25_HUMAN	E	271	ENSP00000337816:D271E	ENSP00000337816:D271E	D	+	3	2	MMP25	3047186	0.196000	0.23350	0.962000	0.40283	0.058000	0.15608	0.779000	0.26746	0.971000	0.38288	0.306000	0.20318	GAC		0.642	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		16	225	0	0	0	1	0	16	225				
KIR3DL1	3811	broad.mit.edu	37	19	55331426	55331426	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:55331426A>T	ENST00000391728.4	+	4	647	c.614A>T	c.(613-615)cAg>cTg	p.Q205L	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Q110L	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	205					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACCCCCTATCAGTTGTCAGCT	0.522																																						ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(613-615)cAg>cTg		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							137.0	117.0	124.0					19																	55331426		2183	4143	6326	SO:0001583	missense	3811							g.chr19:55331426A>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.614A>T	19.37:g.55331426A>T	ENSP00000375608:p.Gln205Leu					KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Q110L|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Q205L	p.Q205L	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	4	647	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.614A>T	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	8.185	0.794672	0.16327	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.00664	5.92;5.92;5.92;5.92;5.92;5.92	1.44	1.44	0.22558	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.053180	0.03581	U	0.230236	T	0.00906	0.0030	N	0.20574	0.59	0.09310	N	1	B;B;P;B	0.44344	0.006;0.001;0.833;0.001	B;B;P;B	0.45232	0.003;0.006;0.474;0.001	T	0.47032	-0.9148	10	0.25106	T	0.35	.	5.0308	0.14409	1.0:0.0:0.0:0.0	.	205;110;205;205	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	L	205;205;205;183;205;205;110	ENSP00000384528:Q205L;ENSP00000443350:Q205L;ENSP00000442355:Q205L;ENSP00000375608:Q205L;ENSP00000326868:Q205L;ENSP00000350901:Q110L	ENSP00000326868:Q205L	Q	+	2	0	KIR3DL1	60023238	0.011000	0.17503	0.006000	0.13384	0.003000	0.03518	-0.190000	0.09615	0.939000	0.37446	0.155000	0.16302	CAG		0.522	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		27	173	0	0	0	1	0	27	173				
TMEM132B	114795	broad.mit.edu	37	12	126138685	126138685	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:126138685T>C	ENST00000299308.3	+	9	2674	c.2666T>C	c.(2665-2667)gTg>gCg	p.V889A	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V401A	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	889						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GACCTCACAGTGACCTCAAGG	0.507																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2665-2667)gTg>gCg		transmembrane protein 132B							78.0	75.0	76.0					12																	126138685		1977	4161	6138	SO:0001583	missense	114795					integral to membrane		g.chr12:126138685T>C	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2666T>C	12.37:g.126138685T>C	ENSP00000299308:p.Val889Ala					TMEM132B_ENST00000535886.1_Missense_Mutation_p.V401A	p.V889A	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2674	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		889					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2666T>C	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	T	9.527	1.109710	0.20714	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.12984	2.63;2.63	5.43	5.43	0.79202	.	0.356772	0.23777	N	0.044678	T	0.11750	0.0286	L	0.34521	1.04	0.27899	N	0.939031	B	0.23249	0.082	B	0.28011	0.085	T	0.17319	-1.0373	10	0.25751	T	0.34	.	10.6992	0.45918	0.1424:0.0:0.0:0.8576	.	889	Q14DG7	T132B_HUMAN	A	889;401	ENSP00000299308:V889A;ENSP00000440436:V401A	ENSP00000299308:V889A	V	+	2	0	TMEM132B	124704638	1.000000	0.71417	0.770000	0.31555	0.814000	0.46013	4.077000	0.57598	2.057000	0.61298	0.533000	0.62120	GTG		0.507	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		8	92	0	0	0	1	0	8	92				
MT-ND1	4535	broad.mit.edu	37	M	3958	3958	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chrM:3958G>A	ENST00000361390.2	+	1	652	c.652G>A	c.(652-654)Ggc>Agc	p.G218S	MT-TC_ENST00000387405.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TY_ENST00000387409.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-CO1_ENST00000361624.2_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TA_ENST00000387392.1_RNA|MT-TI_ENST00000387365.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	218					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AATACGCCGCAGGCCCCTTCG	0.473																																						ENST00000361390.2																			0				breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						c.(652-654)Ggc>Agc		mitochondrially encoded NADH dehydrogenase 1																																				SO:0001583	missense	4535							g.chrM:3958G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.652G>A	M.37:g.3958G>A	ENSP00000354687:p.Gly218Ser						p.218_218insS							1	652	+								C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	37	c.652G>A																																																																																					0.473	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026		9	68	0	0	0	1	0	9	68				
SVILP1	645954	broad.mit.edu	37	10	30986359	30986359	+	RNA	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:30986359G>T	ENST00000435645.1	+	0	349									supervillin pseudogene 1																		GCGCTCAATAGTGGGGACTGC	0.552																																						ENST00000435645.1																			0																																																			0							g.chr10:30986359G>T			10p11.23	2012-12-20			ENSG00000234814	ENSG00000234814			44959	pseudogene	pseudogene							Standard	NR_036438		Approved				OTTHUMG00000017900		10.37:g.30986359G>T														0	349	+									RNA	SNP	ENST00000435645.1	37																																																																																						0.552	SVILP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331601.1			4	42	1	0	5.9392e-07	1	6.62247e-07	4	42				
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs201409537		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323																																						ENST00000448984.1																			4	Substitution - Missense(4)	p.S298N(4)	endometrium(2)|kidney(2)	endometrium(3)|kidney(1)|lung(4)	8						c.(892-894)aGt>aAt		tripartite motif containing 49C																																				SO:0001583	missense	642612					intracellular	zinc ion binding	g.chr11:89774252G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.893G>A	11.37:g.89774252G>A	ENSP00000388299:p.Ser298Asn					TRIM49C_ENST00000432771.1_Intron	p.S298N	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN			8	1222	+			298			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.893G>A	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	g	0.625	-0.819420	0.02776	.	.	ENSG00000204449	ENST00000448984	T	0.04809	3.55	0.823	-0.634	0.11516	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.04452	0.0122	L	0.52206	1.635	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.43605	-0.9381	8	.	.	.	.	3.2016	0.06651	0.4432:0.0:0.5568:0.0	rs672762;rs9666958;rs16912727;rs672762	298	P0CI26	T49L2_HUMAN	N	298	ENSP00000388299:S298N	.	S	+	2	0	TRIM49L2	89413900	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-1.058000	0.03482	-0.239000	0.09710	0.305000	0.20034	AGT		0.323	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		4	21	0	0	0	1	0	4	21				
TRPM6	140803	broad.mit.edu	37	9	77415320	77415320	+	Silent	SNP	C	C	G	rs201934592		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:77415320C>G	ENST00000360774.1	-	17	2325	c.2088G>C	c.(2086-2088)acG>acC	p.T696T	TRPM6_ENST00000361255.3_Silent_p.T691T|TRPM6_ENST00000449912.2_Silent_p.T691T|TRPM6_ENST00000451710.3_Silent_p.T696T|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.T696T|RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	696					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGAGTTCATACGTCAACAGCG	0.512																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(2086-2088)acG>acC		transient receptor potential cation channel, subfamily M, member 6							133.0	108.0	117.0					9																	77415320		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77415320C>G	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2088G>C	9.37:g.77415320C>G						TRPM6_ENST00000361255.3_Silent_p.T691T|TRPM6_ENST00000360774.1_Silent_p.T696T|TRPM6_ENST00000449912.2_Silent_p.T691T|TRPM6_ENST00000376864.4_Silent_p.T696T|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron	p.T696T			Q9BX84	TRPM6_HUMAN			17	2325	-			696					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.2088G>C	CCDS6647.1																																																																																				0.512	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		12	34	0	0	0	1	0	12	34				
FAM86B3P	286042	broad.mit.edu	37	8	8095990	8095990	+	RNA	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:8095990C>G	ENST00000310542.3	+	0	0				ALG1L13P_ENST00000523017.1_RNA					family with sequence similarity 86, member B3, pseudogene																		CCAGGAGCCCCGAGACCTGCA	0.647																																						ENST00000523017.1																			0																																																			0							g.chr8:8095990C>G			8p23.1	2013-06-10			ENSG00000173295	ENSG00000173295			44371	pseudogene	pseudogene							Standard	NR_024361		Approved		uc011kwt.2		OTTHUMG00000163669		8.37:g.8095990C>G														0	608	-									RNA	SNP	ENST00000310542.3	37																																																																																						0.647	FAM86B3P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000448496.1			6	4	0	0	0	1	0	6	4				
ALK	238	broad.mit.edu	37	2	29450452	29450452	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:29450452G>A	ENST00000389048.3	-	17	3808	c.2902C>T	c.(2902-2904)Cca>Tca	p.P968S	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	968					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TTTAAAGCTGGGGTGTACAGG	0.517			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(2902-2904)Cca>Tca		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						179.0	169.0	172.0					2																	29450452		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29450452G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2902C>T	2.37:g.29450452G>A	ENSP00000373700:p.Pro968Ser					ALK_ENST00000431873.1_Intron	p.P968S	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			17	3808	-	Acute lymphoblastic leukemia(172;0.155)		968					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.2902C>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006943	0.54361	.	.	ENSG00000171094	ENST00000389048	T	0.75704	-0.96	5.0	5.0	0.66597	.	0.000000	0.45867	U	0.000332	T	0.68559	0.3014	L	0.44542	1.39	0.80722	D	1	B	0.28470	0.213	B	0.28385	0.089	T	0.64833	-0.6314	9	.	.	.	.	18.2971	0.90150	0.0:0.0:1.0:0.0	.	968	Q9UM73	ALK_HUMAN	S	968	ENSP00000373700:P968S	.	P	-	1	0	ALK	29303956	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.507000	0.53371	2.319000	0.78375	0.561000	0.74099	CCA		0.517	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		17	113	0	0	0	1	0	17	113				
SLC18A2	6571	broad.mit.edu	37	10	119027213	119027213	+	Silent	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:119027213C>A	ENST00000298472.5	+	13	1295	c.1152C>A	c.(1150-1152)ctC>ctA	p.L384L	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	384					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TTTATGGACTCATAGCTCCGA	0.373																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(1150-1152)ctC>ctA		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						96.0	91.0	92.0					10																	119027213		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119027213C>A	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1152C>A	10.37:g.119027213C>A						SLC18A2_ENST00000497497.1_3'UTR	p.L384L	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	13	1295	+		Colorectal(252;0.19)	384					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.1152C>A	CCDS7599.1																																																																																				0.373	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		3	10	1	0	1	1	1	3	10				
C2orf16	84226	broad.mit.edu	37	2	27803080	27803080	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:27803080C>T	ENST00000408964.2	+	1	3692	c.3641C>T	c.(3640-3642)aCa>aTa	p.T1214I	ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1214						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCTACTTCCACAATAGATTTG	0.463																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(3640-3642)aCa>aTa		chromosome 2 open reading frame 16							109.0	108.0	108.0					2																	27803080		1894	4115	6009	SO:0001583	missense	84226							g.chr2:27803080C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3641C>T	2.37:g.27803080C>T	ENSP00000386190:p.Thr1214Ile						p.T1214I	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	3692	+	Acute lymphoblastic leukemia(172;0.155)		1214					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.3641C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	9.804	1.181227	0.21787	.	.	ENSG00000221843	ENST00000408964	T	0.06294	3.32	5.19	2.12	0.27331	.	.	.	.	.	T	0.09247	0.0228	N	0.24115	0.695	0.09310	N	1	D	0.65815	0.995	P	0.61592	0.891	T	0.26430	-1.0103	9	0.56958	D	0.05	.	4.0443	0.09766	0.165:0.5808:0.1604:0.0938	.	1214	Q68DN1	CB016_HUMAN	I	1214	ENSP00000386190:T1214I	ENSP00000386190:T1214I	T	+	2	0	C2orf16	27656584	0.004000	0.15560	0.016000	0.15963	0.060000	0.15804	0.329000	0.19698	1.110000	0.41699	0.467000	0.42956	ACA		0.463	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		34	67	0	0	0	1	0	34	67				
RHCG	51458	broad.mit.edu	37	15	90026330	90026330	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr15:90026330C>T	ENST00000268122.4	-	3	558	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	RHCG_ENST00000544600.1_Missense_Mutation_p.V164M	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	164					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AACTCATTCACAGCGAAGAGG	0.542																																						ENST00000268122.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(490-492)Gtg>Atg		Rh family, C glycoprotein							68.0	52.0	57.0					15																	90026330		2200	4299	6499	SO:0001583	missense	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90026330C>T	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.490G>A	15.37:g.90026330C>T	ENSP00000268122:p.Val164Met					RHCG_ENST00000544600.1_Missense_Mutation_p.V164M	p.V164M	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN			3	558	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		164					A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	c.490G>A	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993998	0.54041	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.22336	1.96;1.96	5.47	3.56	0.40772	Ammonium transporter AmtB-like (3);	0.304748	0.35466	N	0.003192	T	0.45236	0.1332	M	0.92833	3.35	0.58432	D	0.999998	P;P	0.37158	0.585;0.585	P;P	0.48770	0.589;0.589	T	0.46289	-0.9202	9	.	.	.	-11.608	11.0751	0.48027	0.0:0.8008:0.1291:0.0701	.	164;164	A8K4D4;Q9UBD6	.;RHCG_HUMAN	M	164;164;155	ENSP00000438123:V164M;ENSP00000268122:V164M	.	V	-	1	0	RHCG	87827334	0.999000	0.42202	0.194000	0.23346	0.420000	0.31355	4.076000	0.57591	0.655000	0.30866	0.655000	0.94253	GTG		0.542	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		4	7	0	0	0	1	0	4	7				
DCAF15	90379	broad.mit.edu	37	19	14070448	14070448	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:14070448G>A	ENST00000254337.6	+	8	1295	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	425					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CTTCGTGGCCGCAACCTGCGG	0.697											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(1273-1275)cGc>cAc		DDB1 and CUL4 associated factor 15							56.0	61.0	59.0					19																	14070448		2203	4300	6503	SO:0001583	missense	90379							g.chr19:14070448G>A	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1274G>A	19.37:g.14070448G>A	ENSP00000254337:p.Arg425His		OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692		p.R425H	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			8	1295	+			425					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.1274G>A	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.352853	0.82132	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.87	4.87	0.63330	.	0.164291	0.41097	D	0.000959	T	0.53077	0.1774	L	0.29908	0.895	0.37544	D	0.918445	D	0.76494	0.999	P	0.57152	0.814	T	0.61471	-0.7056	9	0.72032	D	0.01	-22.1225	10.4616	0.44583	0.0919:0.0:0.9081:0.0	.	425	Q66K64	DCA15_HUMAN	H	425	.	ENSP00000254337:R425H	R	+	2	0	DCAF15	13931448	1.000000	0.71417	0.982000	0.44146	0.923000	0.55619	3.545000	0.53648	2.253000	0.74438	0.561000	0.74099	CGC		0.697	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		5	255	0	0	0	1	0	5	255				
CSMD1	64478	broad.mit.edu	37	8	3216672	3216672	+	Splice_Site	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:3216672A>C	ENST00000520002.1	-	22	3863		c.e22+1		CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000539096.1_Splice_Site|CSMD1_ENST00000602557.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGACCACCTACCCACACACC	0.587																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.e22+1		CUB and Sushi multiple domains 1							65.0	67.0	66.0					8																	3216672		2203	4300	6503	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:3216672A>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3307+1T>G	8.37:g.3216672A>C						CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000539096.1_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000520002.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site				Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	22	3863	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)						Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	ENST00000520002.1	37			.	.	.	.	.	.	.	.	.	.	a	25.5	4.647367	0.87958	.	.	ENSG00000183117	ENST00000335551;ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2175	0.73281	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	3204079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.088000	0.94132	1.986000	0.57962	0.449000	0.29647	.		0.587	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Intron	9	29	0	0	0	1	0	9	29				
ATP11B	23200	broad.mit.edu	37	3	182559896	182559896	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:182559896G>T	ENST00000323116.5	+	8	950	c.690G>T	c.(688-690)atG>atT	p.M230I	ATP11B_ENST00000482794.1_3'UTR	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	230					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CCCAACAAATGGAAGAAATTG	0.318																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(688-690)atG>atT		ATPase, class VI, type 11B							98.0	103.0	101.0					3																	182559896		2203	4300	6503	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182559896G>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.690G>T	3.37:g.182559896G>T	ENSP00000321195:p.Met230Ile					ATP11B_ENST00000482794.1_3'UTR	p.M230I	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		8	950	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		230					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.690G>T	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.34|12.34	1.907862|1.907862	0.33721|0.33721	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116|ENST00000498086	T|.	0.61859|.	0.07|.	5.72|5.72	5.72|5.72	0.89469|0.89469	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);|.	0.245034|.	0.49916|.	D|.	0.000123|.	T|T	0.42539|0.42539	0.1207|0.1207	N|N	0.13098|0.13098	0.295|0.295	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.29458|0.29458	-1.0011|-1.0011	10|5	0.29301|.	T|.	0.29|.	.|.	13.7674|13.7674	0.63004|0.63004	0.0:0.0:0.7787:0.2213|0.0:0.0:0.7787:0.2213	.|.	230|.	Q9Y2G3|.	AT11B_HUMAN|.	I|L	230|31	ENSP00000321195:M230I|.	ENSP00000321195:M230I|.	M|W	+|+	3|2	0|0	ATP11B|ATP11B	184042590|184042590	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	1.488000|1.488000	0.35551|0.35551	2.710000|2.710000	0.92621|0.92621	0.585000|0.585000	0.79938|0.79938	ATG|TGG		0.318	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		4	36	1	0	1	1	1	4	36				
TRIM14	9830	broad.mit.edu	37	9	100862412	100862412	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:100862412C>T	ENST00000341469.2	-	3	347	c.338G>A	c.(337-339)gGg>gAg	p.G113E	TRIM14_ENST00000342043.3_Missense_Mutation_p.G113E|TRIM14_ENST00000375098.3_Missense_Mutation_p.G113E	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	113					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AGTGAATTTCCCCTTCAGCCA	0.428																																					Colon(14;460 597 13826 51781)	ENST00000341469.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9						c.(337-339)gGg>gAg		tripartite motif containing 14							107.0	100.0	102.0					9																	100862412		2203	4300	6503	SO:0001583	missense	9830					cytoplasm|intracellular	zinc ion binding	g.chr9:100862412C>T	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.338G>A	9.37:g.100862412C>T	ENSP00000344208:p.Gly113Glu					TRIM14_ENST00000342043.3_Missense_Mutation_p.G113E|TRIM14_ENST00000375098.3_Missense_Mutation_p.G113E	p.G113E	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN			3	347	-		Acute lymphoblastic leukemia(62;0.0559)	113					A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Missense_Mutation	SNP	ENST00000341469.2	37	c.338G>A	CCDS6734.1	.	.	.	.	.	.	.	.	.	.	C	4.587	0.109138	0.08780	.	.	ENSG00000106785	ENST00000375098;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000375092	T;T;T	0.54279	0.58;0.58;0.58	5.25	-1.76	0.08006	.	0.539399	0.17846	N	0.160036	T	0.30135	0.0755	L	0.35723	1.085	0.09310	N	0.999995	B;B;B	0.18461	0.004;0.007;0.028	B;B;B	0.19148	0.011;0.008;0.024	T	0.30966	-0.9960	10	0.06365	T	0.9	.	5.0218	0.14365	0.1395:0.3743:0.0:0.4863	.	113;113;113	Q14142-2;Q548W9;Q14142	.;.;TRI14_HUMAN	E	113	ENSP00000364239:G113E;ENSP00000344208:G113E;ENSP00000343990:G113E	ENSP00000344208:G113E	G	-	2	0	TRIM14	99902233	0.000000	0.05858	0.003000	0.11579	0.547000	0.35210	-0.810000	0.04505	-0.546000	0.06216	-0.136000	0.14681	GGG		0.428	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	NM_014788		14	20	0	0	0	1	0	14	20				
EEPD1	80820	broad.mit.edu	37	7	36194058	36194058	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:36194058T>G	ENST00000242108.4	+	2	843	c.125T>G	c.(124-126)aTc>aGc	p.I42S	EEPD1_ENST00000534978.1_Missense_Mutation_p.I42S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	42	HhH.				DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CGGCTCAACATCAACACTGCC	0.597																																						ENST00000242108.4																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(124-126)aTc>aGc		endonuclease/exonuclease/phosphatase family domain containing 1							119.0	117.0	117.0					7																	36194058		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36194058T>G	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.125T>G	7.37:g.36194058T>G	ENSP00000242108:p.Ile42Ser					EEPD1_ENST00000534978.1_Missense_Mutation_p.I42S	p.I42S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			2	843	+			42			HhH.		Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.125T>G	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.194270	0.78902	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.35421	1.31;1.31	5.72	5.72	0.89469	RuvA domain 2-like (1);Competence protein ComEA, helix-hairpin-helix domain (1);	0.049142	0.85682	D	0.000000	T	0.65933	0.2739	M	0.92169	3.28	0.80722	D	1	D	0.58970	0.984	P	0.59288	0.855	T	0.75836	-0.3177	10	0.87932	D	0	-35.1937	15.9957	0.80237	0.0:0.0:0.0:1.0	.	42	Q7L9B9	EEPD1_HUMAN	S	42	ENSP00000242108:I42S;ENSP00000442692:I42S	ENSP00000242108:I42S	I	+	2	0	EEPD1	36160583	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.191000	0.72063	2.174000	0.68829	0.459000	0.35465	ATC		0.597	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		80	61	0	0	0	1	0	80	61				
RAPGEF3	10411	broad.mit.edu	37	12	48132985	48132985	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:48132985C>T	ENST00000449771.2	-	24	2490	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.R801Q|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.R759Q|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.R692Q|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.R759Q|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.R759Q			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	801	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GAGGGCCAGTCGGTATACCCG	0.597																																						ENST00000405493.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.(2275-2277)cGa>cAa		Rap guanine nucleotide exchange factor (GEF) 3							124.0	90.0	102.0					12																	48132985		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48132985C>T	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2402G>A	12.37:g.48132985C>T	ENSP00000395708:p.Arg801Gln					RAPGEF3_ENST00000449771.2_Missense_Mutation_p.R801Q|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.R692Q|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.R801Q|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.R759Q|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.R759Q	p.R759Q	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	24	2485	-	Lung SC(27;0.192)		759					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.2276G>A	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	35	5.515679	0.96402	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	4.66	4.66	0.58398	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.88043	0.6331	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92991	0.6415	10	0.87932	D	0	.	16.6507	0.85188	0.0:1.0:0.0:0.0	.	801	O95398	RPGF3_HUMAN	Q	759;801;448;759;759;759;801;746;692	ENSP00000384521:R759Q;ENSP00000395708:R801Q;ENSP00000448619:R759Q;ENSP00000171000:R759Q;ENSP00000373864:R801Q;ENSP00000448480:R692Q	ENSP00000171000:R759Q	R	-	2	0	RAPGEF3	46419252	0.976000	0.34144	0.992000	0.48379	0.981000	0.71138	7.180000	0.77674	2.579000	0.87056	0.561000	0.74099	CGA		0.597	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		16	60	0	0	0	1	0	16	60				
JAK3	3718	broad.mit.edu	37	19	17943399	17943399	+	Missense_Mutation	SNP	C	C	T	rs376945173		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:17943399C>T	ENST00000527670.1	-	18	2638	c.2609G>A	c.(2608-2610)cGg>cAg	p.R870Q	JAK3_ENST00000458235.1_Missense_Mutation_p.R870Q|JAK3_ENST00000534444.1_Missense_Mutation_p.R870Q			P52333	JAK3_HUMAN	Janus kinase 3	870	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CTGAATCTCCCGCTGAAAGTC	0.577		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								C|||	0	0.0	0.0	0.0	5008	,	,		20140	0.0		0.0	False		,,,				2504	0.0					ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(2608-2610)cGg>cAg		Janus kinase 3		C	GLN/ARG	0,4406		0,0,2203	104.0	89.0	94.0		2609	4.5	1.0	19		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	JAK3	NM_000215.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	870/1125	17943399	1,13005	2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17943399C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2609G>A	19.37:g.17943399C>T	ENSP00000432511:p.Arg870Gln					JAK3_ENST00000527670.1_Missense_Mutation_p.R870Q|JAK3_ENST00000534444.1_Missense_Mutation_p.R870Q	p.R870Q	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			19	2708	-			870			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.2609G>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173509	0.78452	0.0	1.16E-4	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.82619	-1.63;-1.63;-1.63	4.52	4.52	0.55395	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.124032	0.51477	D	0.000094	D	0.82866	0.5130	N	0.16016	0.355	0.53005	D	0.99996	D;D	0.89917	1.0;0.995	D;P	0.70935	0.971;0.766	D	0.84670	0.0711	10	0.49607	T	0.09	-36.2842	15.1136	0.72380	0.0:1.0:0.0:0.0	.	870;870	P52333-2;P52333	.;JAK3_HUMAN	Q	870	ENSP00000391676:R870Q;ENSP00000432511:R870Q;ENSP00000436421:R870Q	ENSP00000391676:R870Q	R	-	2	0	JAK3	17804399	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.303000	0.59098	2.510000	0.84645	0.549000	0.68633	CGG		0.577	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		34	148	0	0	0	1	0	34	148				
COQ7	10229	broad.mit.edu	37	16	19079036	19079036	+	Missense_Mutation	SNP	C	C	T	rs529955941	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr16:19079036C>T	ENST00000321998.5	+	1	116	c.50C>T	c.(49-51)cCg>cTg	p.P17L	RP11-626G11.5_ENST00000567047.1_RNA|COQ7_ENST00000544894.2_5'Flank|COQ7_ENST00000569127.1_5'Flank|COQ7_ENST00000568985.1_Missense_Mutation_p.P17L|RP11-626G11.5_ENST00000568971.1_RNA|RP11-626G11.5_ENST00000571934.1_RNA|RP11-626G11.5_ENST00000576433.1_RNA|RP11-626G11.1_ENST00000565802.1_lincRNA	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	17					age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						cggctgcgcccgggggcccgg	0.627													C|||	9	0.00179712	0.0	0.0	5008	,	,		10625	0.0089		0.0	False		,,,				2504	0.0					ENST00000321998.5																			0				breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						c.(49-51)cCg>cTg		coenzyme Q7 homolog, ubiquinone (yeast)							12.0	14.0	14.0					16																	19079036		2141	4233	6374	SO:0001583	missense	10229				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	g.chr16:19079036C>T	U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"""coenzyme Q, 7 (rat, yeast) homolog"""			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.50C>T	16.37:g.19079036C>T	ENSP00000322316:p.Pro17Leu					COQ7_ENST00000568985.1_Missense_Mutation_p.P17L	p.P17L	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN			1	116	+			17					B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Missense_Mutation	SNP	ENST00000321998.5	37	c.50C>T	CCDS10574.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044315	0.36085	.	.	ENSG00000167186	ENST00000321998	T	0.41758	0.99	4.57	-0.629	0.11533	.	1.757380	0.02734	N	0.115418	T	0.20659	0.0497	N	0.08118	0	0.21147	N	0.999778	B	0.02656	0.0	B	0.01281	0.0	T	0.09885	-1.0654	10	0.15499	T	0.54	-10.6372	3.5677	0.07905	0.1692:0.4625:0.0:0.3684	.	17	Q99807	COQ7_HUMAN	L	17	ENSP00000322316:P17L	ENSP00000322316:P17L	P	+	2	0	COQ7	18986537	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.039000	0.03550	-0.054000	0.13266	-0.824000	0.03097	CCG		0.627	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138		9	44	0	0	0	1	0	9	44				
FRG1B	284802	broad.mit.edu	37	20	29625971	29625971	+	Missense_Mutation	SNP	C	C	A	rs145033899		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr20:29625971C>A	ENST00000278882.3	+	5	595	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	72										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAATGGGAACCAGTCTTTCAA	0.328																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(214-216)cCa>cAa																																						SO:0001583	missense	0							g.chr20:29625971C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.215C>A	20.37:g.29625971C>A	ENSP00000278882:p.Pro72Gln					FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q	p.P72Q							5	595	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.215C>A		.	.	.	.	.	.	.	.	.	.	c	12.14	1.847531	0.32606	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49720	0.77	1.68	1.68	0.24146	.	0.112402	0.64402	D	0.000009	T	0.63271	0.2497	.	.	.	0.49483	D	0.999795	D	0.63046	0.992	D	0.79784	0.993	T	0.65948	-0.6044	9	0.66056	D	0.02	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	77	F5H5R5	.	Q	72;77;72	ENSP00000408863:P77Q	ENSP00000278882:P72Q	P	+	2	0	FRG1B	28239632	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CCA		0.328	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	90	1	0	1	1	1	4	90				
RYR2	6262	broad.mit.edu	37	1	237870323	237870323	+	Missense_Mutation	SNP	G	G	A	rs371147744		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:237870323G>A	ENST00000366574.2	+	68	9972	c.9655G>A	c.(9655-9657)Gtg>Atg	p.V3219M	RYR2_ENST00000360064.6_Missense_Mutation_p.V3217M|RYR2_ENST00000542537.1_Missense_Mutation_p.V3203M|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3219					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAGAAATCGTGGAATTAGC	0.448																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9655-9657)Gtg>Atg		ryanodine receptor 2 (cardiac)		G	MET/VAL	0,3898		0,0,1949	130.0	128.0	129.0		9655	3.8	1.0	1		129	1,8321		0,1,4160	no	missense	RYR2	NM_001035.2	21	0,1,6109	AA,AG,GG		0.012,0.0,0.0082	possibly-damaging	3219/4968	237870323	1,12219	1949	4161	6110	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237870323G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9655G>A	1.37:g.237870323G>A	ENSP00000355533:p.Val3219Met					RYR2_ENST00000360064.6_Missense_Mutation_p.V3217M|RYR2_ENST00000542537.1_Missense_Mutation_p.V3203M	p.V3219M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	9972	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3219					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9655G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181611	0.38511	0.0	1.2E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	D;D;D	0.88124	-2.34;-2.34;-2.34	5.72	3.82	0.43975	.	0.212399	0.29707	N	0.011414	T	0.73289	0.3568	N	0.22421	0.69	0.80722	D	1	P	0.38440	0.631	B	0.26517	0.07	T	0.73616	-0.3926	10	0.49607	T	0.09	-16.5975	8.5719	0.33574	0.2322:0.0:0.7678:0.0	.	3219	Q92736	RYR2_HUMAN	M	3219;3217;3203;174;214	ENSP00000355533:V3219M;ENSP00000353174:V3217M;ENSP00000443798:V3203M	ENSP00000353174:V3217M	V	+	1	0	RYR2	235936946	0.971000	0.33674	0.978000	0.43139	0.978000	0.69477	1.848000	0.39309	1.397000	0.46682	0.650000	0.86243	GTG		0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		19	161	0	0	0	1	0	19	161				
MUC4	4585	broad.mit.edu	37	3	195511689	195511689	+	Silent	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:195511689G>T	ENST00000463781.3	-	2	7221	c.6762C>A	c.(6760-6762)acC>acA	p.T2254T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2254T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAAGAGGGGTGGTGTCACCTG	0.582																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6760-6762)acC>acA		mucin 4, cell surface associated							30.0	28.0	29.0					3																	195511689		686	1584	2270	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511689G>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6762C>A	3.37:g.195511689G>T						MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2254T	p.T2254T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7221	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1037					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.6762C>A	CCDS54700.1																																																																																				0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	21	1	0	0.004672	1	0.0049056	3	21				
CDH26	60437	broad.mit.edu	37	20	58571629	58571629	+	Intron	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr20:58571629A>C	ENST00000244047.5	+	13	2199				CDH26_ENST00000350849.6_Missense_Mutation_p.K2Q|CDH26_ENST00000348616.4_Intron|CDH26_ENST00000497614.1_Intron|CDH26_ENST00000244049.3_Missense_Mutation_p.K2Q			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GATCCTCATGAAACCTCTGAT	0.413																																						ENST00000350849.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(4-6)Aaa>Caa		cadherin 26							253.0	224.0	234.0					20																	58571629		2203	4300	6503	SO:0001627	intron_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58571629A>C	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1889-57A>C	20.37:g.58571629A>C						CDH26_ENST00000244049.3_Missense_Mutation_p.K2Q|CDH26_ENST00000348616.4_Intron|CDH26_ENST00000497614.1_Intron|CDH26_ENST00000244047.5_Intron	p.K2Q	NM_021810.4	NP_068582.2	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		1	201	+	all_lung(29;0.00963)		0					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.4A>C		.	.	.	.	.	.	.	.	.	.	A	8.427	0.847731	0.17034	.	.	ENSG00000124215	ENST00000244049;ENST00000350849;ENST00000456106	.	.	.	3.59	-2.25	0.06888	.	.	.	.	.	T	0.22282	0.0537	.	.	.	0.09310	N	1	P;B	0.36712	0.566;0.395	B;B	0.33121	0.158;0.158	T	0.13575	-1.0504	7	0.87932	D	0	.	4.516	0.11935	0.5104:0.1655:0.324:0.0	.	2;2	Q8IXH8-5;Q8IXH8-2	.;.	Q	2	.	ENSP00000244049:K2Q	K	+	1	0	CDH26	58005024	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.813000	0.04491	-0.597000	0.05813	-0.313000	0.08912	AAA		0.413	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		5	153	0	0	0	1	0	5	153				
TRIO	7204	broad.mit.edu	37	5	14487604	14487604	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:14487604C>G	ENST00000344204.4	+	48	6891	c.6867C>G	c.(6865-6867)aaC>aaG	p.N2289K	TRIO_ENST00000537187.1_Missense_Mutation_p.N2289K|TRIO_ENST00000344135.5_5'Flank	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2289					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACCAGAGGAACCACAgcgggg	0.746																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(6865-6867)aaC>aaG		trio Rho guanine nucleotide exchange factor							12.0	13.0	13.0					5																	14487604		2121	4078	6199	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14487604C>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6867C>G	5.37:g.14487604C>G	ENSP00000339299:p.Asn2289Lys					TRIO_ENST00000537187.1_Missense_Mutation_p.N2289K	p.N2289K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			48	6891	+	Lung NSC(4;0.000742)		2289					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.6867C>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	6.199	0.404960	0.11754	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.70399	-0.48;-0.48	5.1	5.1	0.69264	Pleckstrin homology-type (1);	0.099776	0.64402	D	0.000002	T	0.41026	0.1141	N	0.04686	-0.185	0.43426	D	0.99558	B;P	0.43750	0.078;0.816	B;B	0.34093	0.054;0.175	T	0.51172	-0.8739	10	0.07644	T	0.81	.	11.954	0.52970	0.0:0.9206:0.0:0.0794	.	2289;2289	O75962-5;O75962	.;TRIO_HUMAN	K	2289;2289;1976	ENSP00000339299:N2289K;ENSP00000446348:N2289K	ENSP00000339299:N2289K	N	+	3	2	TRIO	14540604	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.600000	0.46240	2.371000	0.80710	0.555000	0.69702	AAC		0.746	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		4	36	0	0	0	1	0	4	36				
C3P1	388503	broad.mit.edu	37	19	10158113	10158113	+	RNA	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:10158113T>C	ENST00000495140.1	+	0	1321							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TGTTGTACAATTTCAGGGATC	0.453																																						ENST00000495140.1																			0				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13															115.0	113.0	114.0					19																	10158113		1982	4165	6147			0							g.chr19:10158113T>C	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10158113T>C														0	1321	+									RNA	SNP	ENST00000495140.1	37																																																																																						0.453	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		32	122	0	0	0	1	0	32	122				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			6	85	0	0	0	1	0	6	85				
FCHSD2	9873	broad.mit.edu	37	11	72552578	72552578	+	Silent	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:72552578G>A	ENST00000409418.4	-	18	2360	c.1977C>T	c.(1975-1977)taC>taT	p.Y659Y	ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000311172.7_Silent_p.Y603Y|FCHSD2_ENST00000409314.1_Silent_p.Y683Y|FCHSD2_ENST00000458644.2_Silent_p.Y523Y|FCHSD2_ENST00000409263.1_Silent_p.Y20Y	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	659										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GAGGCTGGTCGTACAACGGCA	0.617																																						ENST00000409314.1																			0				endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22						c.(2047-2049)taC>taT		FCH and double SH3 domains 2							50.0	42.0	44.0					11																	72552578		2200	4293	6493	SO:0001819	synonymous_variant	9873						protein binding	g.chr11:72552578G>A	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1977C>T	11.37:g.72552578G>A						FCHSD2_ENST00000311172.7_Silent_p.Y603Y|ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000409418.4_Silent_p.Y659Y|FCHSD2_ENST00000409263.1_Silent_p.Y20Y|FCHSD2_ENST00000458644.2_Silent_p.Y523Y	p.Y683Y			O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		19	2217	-			659					B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Silent	SNP	ENST00000409418.4	37	c.2049C>T	CCDS8218.2																																																																																				0.617	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		12	4	0	0	0	1	0	12	4				
CDYL	9425	broad.mit.edu	37	6	4892429	4892429	+	Silent	SNP	C	C	T	rs145508163		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:4892429C>T	ENST00000328908.5	+	4	800	c.669C>T	c.(667-669)gtC>gtT	p.V223V	CDYL_ENST00000472453.1_Intron|CDYL_ENST00000449732.2_Silent_p.V37V|CDYL_ENST00000343762.5_Silent_p.V37V|CDYL_ENST00000397588.3_Silent_p.V169V			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	223	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TGGACCCCGTCGAGCAGGGTC	0.617																																						ENST00000328908.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30						c.(667-669)gtC>gtT		chromodomain protein, Y-like		C	,,	0,4406		0,0,2203	46.0	52.0	50.0		111,111,507	-8.5	0.0	6	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CDYL	NM_001143970.1,NM_001143971.1,NM_004824.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	37/413,37/413,169/545	4892429	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4892429C>T	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.669C>T	6.37:g.4892429C>T						CDYL_ENST00000343762.5_Silent_p.V37V|CDYL_ENST00000449732.2_Silent_p.V37V|CDYL_ENST00000397588.3_Silent_p.V169V|CDYL_ENST00000472453.1_Intron	p.V223V			Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	4	800	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	223					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	37	c.669C>T																																																																																					0.617	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		4	97	0	0	0	1	0	4	97				
NACAP1	83955	broad.mit.edu	37	8	102381636	102381636	+	RNA	SNP	A	A	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:102381636A>T	ENST00000419462.1	+	0	1048					NR_002182.1		Q9BZK3	NACP1_HUMAN	nascent-polypeptide-associated complex alpha polypeptide pseudogene 1																		GGCAGTGAAGACGAAGAGGTC	0.453																																						ENST00000419462.1																			0																																																			0							g.chr8:102381636A>T	AF315951		8q22.3	2007-04-20				ENSG00000228224			24688	pseudogene	pseudogene							Standard	NR_002182		Approved	FKSG17	uc003ykc.1	Q9BZK3			8.37:g.102381636A>T								NR_002182.1						0	1048	+									RNA	SNP	ENST00000419462.1	37																																																																																						0.453	NACAP1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000380521.1	NR_002182		7	107	0	0	0	1	0	7	107				
THEMIS2	9473	broad.mit.edu	37	1	28209315	28209315	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:28209315C>T	ENST00000373921.3	+	4	1484	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S	THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.P365S|THEMIS2_ENST00000373925.1_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	494	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGACTCTGAGCCTGGGATGTG	0.617																																						ENST00000373921.3																			0											c.(1480-1482)Cct>Tct		thymocyte selection associated family member 2							119.0	115.0	116.0					1																	28209315		2082	4210	6292	SO:0001583	missense	9473							g.chr1:28209315C>T	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1480C>T	1.37:g.28209315C>T	ENSP00000363031:p.Pro494Ser					THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.P365S	p.P494S	NM_001105556.1	NP_001099026.1					4	1484	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.1480C>T	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272254	0.59649	.	.	ENSG00000130775	ENST00000328928;ENST00000373921	T;T	0.13307	2.6;2.6	4.98	4.05	0.47172	.	0.049114	0.85682	D	0.000000	T	0.41096	0.1144	M	0.83483	2.645	0.33039	D	0.531134	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.999;0.998;0.949	T	0.62397	-0.6863	10	0.87932	D	0	-9.8281	15.2854	0.73826	0.0:0.8589:0.1411:0.0	.	365;298;494	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8	.;.;THMS2_HUMAN	S	365;494	ENSP00000329862:P365S;ENSP00000363031:P494S	ENSP00000329862:P365S	P	+	1	0	C1orf38	28081902	0.954000	0.32549	0.156000	0.22583	0.736000	0.42039	2.720000	0.47252	1.224000	0.43551	-0.315000	0.08773	CCT		0.617	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		30	59	0	0	0	1	0	30	59				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		50	7	0	0	0	1	0	50	7				
CYP2F1	1572	broad.mit.edu	37	19	41622201	41622201	+	Silent	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:41622201C>A	ENST00000331105.2	+	2	180	c.108C>A	c.(106-108)ccC>ccA	p.P36P		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	36					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GACCCAGACCCCTCTCAATCC	0.547																																						ENST00000331105.2																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(106-108)ccC>ccA		cytochrome P450, family 2, subfamily F, polypeptide 1							192.0	189.0	190.0					19																	41622201		2203	4300	6503	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41622201C>A	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.108C>A	19.37:g.41622201C>A							p.P36P	NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN			2	180	+			36					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.108C>A	CCDS12572.1																																																																																				0.547	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			100	247	1	0	1.21964e-59	1	1.44976e-59	100	247				
SFTPB	6439	broad.mit.edu	37	2	85890855	85890855	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:85890855C>A	ENST00000519937.2	-	7	807	c.788G>T	c.(787-789)gGc>gTc	p.G263V	SFTPB_ENST00000393822.3_Missense_Mutation_p.G275V|SFTPB_ENST00000342375.3_Missense_Mutation_p.G263V|SFTPB_ENST00000409383.1_Missense_Mutation_p.G275V			P07988	PSPB_HUMAN	surfactant protein B	263	Saposin B-type 2. {ECO:0000255|PROSITE- ProRule:PRU00415}.				organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CAGCATGCGGCCCAGCAGCGT	0.682																																						ENST00000393822.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						c.(823-825)gGc>gTc		surfactant protein B							25.0	26.0	25.0					2																	85890855		2199	4295	6494	SO:0001583	missense	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85890855C>A	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.788G>T	2.37:g.85890855C>A	ENSP00000428719:p.Gly263Val					SFTPB_ENST00000409383.1_Missense_Mutation_p.G275V|SFTPB_ENST00000342375.3_Missense_Mutation_p.G263V|SFTPB_ENST00000519937.2_Missense_Mutation_p.G263V	p.G275V			P07988	PSPB_HUMAN			8	923	-			263			Saposin B-type 2.		Q96R04	Missense_Mutation	SNP	ENST00000519937.2	37	c.824G>T		.	.	.	.	.	.	.	.	.	.	C	14.68	2.608241	0.46527	.	.	ENSG00000168878	ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.34	3.53	0.40419	Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2);	0.000000	0.56097	D	0.000040	D	0.85366	0.5680	L	0.42245	1.32	0.50813	D	0.999898	P;D	0.52996	0.911;0.957	P;P	0.58577	0.572;0.841	T	0.81865	-0.0736	10	0.36615	T	0.2	-6.5071	8.6387	0.33964	0.0:0.8211:0.0:0.1789	.	275;263	D6W5L6;P07988	.;PSPB_HUMAN	V	265;275;263;275;231	ENSP00000428719:G265V;ENSP00000377409:G275V;ENSP00000345161:G263V;ENSP00000386346:G275V	ENSP00000345161:G263V	G	-	2	0	SFTPB	85744366	0.994000	0.37717	0.982000	0.44146	0.392000	0.30506	0.735000	0.26115	0.629000	0.30376	0.561000	0.74099	GGC		0.682	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843		3	20	1	0	1	1	1	3	20				
PRDM15	63977	broad.mit.edu	37	21	43243763	43243763	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr21:43243763G>A	ENST00000269844.3	-	21	2880	c.2770C>T	c.(2770-2772)Cac>Tac	p.H924Y	PRDM15_ENST00000447207.2_Missense_Mutation_p.H558Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.H578Y|PRDM15_ENST00000422911.1_Missense_Mutation_p.H615Y|PRDM15_ENST00000398548.1_Missense_Mutation_p.H595Y	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	924					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTGTCGCCGTGGGTGAGCAGG	0.607																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(1843-1845)Cac>Tac		PR domain containing 15							88.0	64.0	72.0					21																	43243763		2198	4287	6485	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43243763G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2770C>T	21.37:g.43243763G>A	ENSP00000269844:p.His924Tyr					PRDM15_ENST00000538201.1_Missense_Mutation_p.H578Y|PRDM15_ENST00000398548.1_Missense_Mutation_p.H595Y|PRDM15_ENST00000269844.3_Missense_Mutation_p.H924Y|PRDM15_ENST00000447207.2_Missense_Mutation_p.H558Y	p.H615Y			P57071	PRD15_HUMAN			15	1944	-			924					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.1843C>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	g	29.0	4.972263	0.92919	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	4.99	4.99	0.66335	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91168	0.7218	M	0.79475	2.455	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.83275	0.996;0.992;0.996	D	0.92281	0.5833	9	0.87932	D	0	-35.6435	17.6069	0.88040	0.0:0.0:1.0:0.0	.	924;615;595	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Y	615;595;578;558;924	ENSP00000408592:H615Y;ENSP00000381556:H595Y;ENSP00000444044:H578Y;ENSP00000390245:H558Y;ENSP00000269844:H924Y	ENSP00000269844:H924Y	H	-	1	0	PRDM15	42116832	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.412000	0.97347	2.470000	0.83445	0.556000	0.70494	CAC		0.607	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		4	8	0	0	0	1	0	4	8				
GPR182	11318	broad.mit.edu	37	12	57389633	57389633	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:57389633T>C	ENST00000300098.1	+	2	859	c.640T>C	c.(640-642)Tgg>Cgg	p.W214R	RP11-474N8.5_ENST00000556850.1_RNA|HBCBP_ENST00000600202.1_5'Flank	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	214					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GTACAGCACCTGGGCCCTGGC	0.632																																						ENST00000300098.1																			0				endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						c.(640-642)Tgg>Cgg		G protein-coupled receptor 182							31.0	27.0	28.0					12																	57389633		2203	4298	6501	SO:0001583	missense	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57389633T>C	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.640T>C	12.37:g.57389633T>C	ENSP00000300098:p.Trp214Arg						p.W214R	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN			2	859	+			214						Missense_Mutation	SNP	ENST00000300098.1	37	c.640T>C	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.773610	0.31411	.	.	ENSG00000166856	ENST00000300098	T	0.37915	1.17	3.89	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	M	0.78456	2.415	0.40848	D	0.983727	D	0.89917	1.0	D	0.97110	1.0	T	0.57562	-0.7790	10	0.87932	D	0	.	7.8646	0.29530	0.1854:0.0:0.0:0.8146	.	214	O15218	GP182_HUMAN	R	214	ENSP00000300098:W214R	ENSP00000300098:W214R	W	+	1	0	GPR182	55675900	1.000000	0.71417	0.280000	0.24747	0.169000	0.22640	7.757000	0.85209	0.628000	0.30357	0.459000	0.35465	TGG		0.632	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		17	26	0	0	0	1	0	17	26				
SMC2	10592	broad.mit.edu	37	9	106874060	106874060	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:106874060A>G	ENST00000286398.7	+	10	1507	c.1219A>G	c.(1219-1221)Aat>Gat	p.N407D	SMC2_ENST00000374793.3_Missense_Mutation_p.N407D|SMC2_ENST00000374787.3_Missense_Mutation_p.N407D|SMC2_ENST00000303219.8_Missense_Mutation_p.N407D	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	407					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGCCTGTAAAAATGATATAAG	0.418																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1219-1221)Aat>Gat		structural maintenance of chromosomes 2							73.0	74.0	74.0					9																	106874060		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106874060A>G	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1219A>G	9.37:g.106874060A>G	ENSP00000286398:p.Asn407Asp					SMC2_ENST00000374793.3_Missense_Mutation_p.N407D|SMC2_ENST00000374787.3_Missense_Mutation_p.N407D|SMC2_ENST00000303219.8_Missense_Mutation_p.N407D	p.N407D	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			10	1507	+			407					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.1219A>G	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.585095	0.66105	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.80123	-1.23;-1.23;-1.34;-1.23	5.65	5.65	0.86999	RecF/RecN/SMC (1);	0.086125	0.85682	D	0.000000	T	0.77778	0.4181	L	0.51914	1.62	0.46149	D	0.99889	P;P;P	0.42010	0.514;0.664;0.768	B;B;B	0.41988	0.326;0.326;0.372	T	0.76979	-0.2758	10	0.33940	T	0.23	-23.3256	14.7251	0.69339	1.0:0.0:0.0:0.0	.	407;407;407	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	D	407	ENSP00000286398:N407D;ENSP00000363925:N407D;ENSP00000306152:N407D;ENSP00000363919:N407D	ENSP00000286398:N407D	N	+	1	0	SMC2	105913881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.130000	0.77235	2.158000	0.67659	0.528000	0.53228	AAT		0.418	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			25	1	0	0	0	1	0	25	1				
LRRN2	10446	broad.mit.edu	37	1	204588892	204588892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:204588892G>A	ENST00000367175.1	-	1	2441	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000367176.3_Nonsense_Mutation_p.Q77*			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	77					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTGTTGCTCTGCAGGAGCAGG	0.617																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(229-231)Cag>Tag		leucine rich repeat neuronal 2							66.0	63.0	64.0					1																	204588892		2203	4300	6503	SO:0001587	stop_gained	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204588892G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.229C>T	1.37:g.204588892G>A	ENSP00000356143:p.Gln77*					LRRN2_ENST00000367176.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000367177.3_Nonsense_Mutation_p.Q77*	p.Q77*			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	2441	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		77					B2R624|Q5T0Y0|Q6UXM0|Q8N182	Nonsense_Mutation	SNP	ENST00000367175.1	37	c.229C>T	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	40	8.426355	0.98806	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	.	.	.	5.67	5.67	0.87782	.	0.000000	0.40469	N	0.001081	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4225	0.94727	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000356143:Q77X	Q	-	1	0	LRRN2	202855515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.866000	0.99616	2.684000	0.91462	0.650000	0.86243	CAG		0.617	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		5	94	0	0	0	1	0	5	94				
CDHR5	53841	broad.mit.edu	37	11	617618	617618	+	Silent	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:617618A>G	ENST00000358353.3	-	16	2593	c.2271T>C	c.(2269-2271)ggT>ggC	p.G757G	IRF7_ENST00000525445.1_5'Flank|CDHR5_ENST00000349570.7_Silent_p.G563G|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000348655.6_5'Flank|IRF7_ENST00000397570.1_5'Flank|CDHR5_ENST00000397542.2_Silent_p.G757G|IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000397566.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	757					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GCTCAGGGGCACCGCCTGGGG	0.776																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(2269-2271)ggT>ggC		cadherin-related family member 5							5.0	7.0	6.0					11																	617618		2035	4054	6089	SO:0001819	synonymous_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:617618A>G	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2271T>C	11.37:g.617618A>G						CDHR5_ENST00000397542.2_Silent_p.G757G|CDHR5_ENST00000349570.7_Silent_p.G563G	p.G757G			Q9HBB8	CDHR5_HUMAN			16	2593	-			757					C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	c.2271T>C	CCDS7707.1																																																																																				0.776	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		3	18	0	0	0	1	0	3	18				
FBLN2	2199	broad.mit.edu	37	3	13612329	13612329	+	Silent	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:13612329G>T	ENST00000295760.7	+	2	543	c.474G>T	c.(472-474)cgG>cgT	p.R158R	FBLN2_ENST00000404922.3_Silent_p.R158R|FBLN2_ENST00000535798.1_Silent_p.R184R|FBLN2_ENST00000492059.1_Silent_p.R158R	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	158	N.|Subdomain NA (Cys-rich).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGCCCTGCCGGGCCTGCCACT	0.687																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(472-474)cgG>cgT		fibulin 2							12.0	16.0	14.0					3																	13612329		2123	4224	6347	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13612329G>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.474G>T	3.37:g.13612329G>T						FBLN2_ENST00000295760.7_Silent_p.R158R|FBLN2_ENST00000535798.1_Silent_p.R184R|FBLN2_ENST00000492059.1_Silent_p.R158R	p.R158R	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		2	593	+			158			N.|Subdomain NA (Cys-rich).		B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.474G>T	CCDS46762.1																																																																																				0.687	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		11	27	1	0	0.010729	1	0.0111724	11	27				
KMT2D	8085	broad.mit.edu	37	12	49442982	49442982	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:49442982G>A	ENST00000301067.7	-	12	3925	c.3926C>T	c.(3925-3927)cCa>cTa	p.P1309L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1309	Arg-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCGTCTTCCTGGGAAACTGCT	0.547																																						ENST00000301067.7																			0											c.(3925-3927)cCa>cTa		lysine (K)-specific methyltransferase 2D							35.0	36.0	36.0					12																	49442982		1977	4144	6121	SO:0001583	missense	8085							g.chr12:49442982G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3926C>T	12.37:g.49442982G>A	ENSP00000301067:p.Pro1309Leu						p.P1309L	NM_003482.3	NP_003473.3					12	3925	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.3926C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022958	0.54683	.	.	ENSG00000167548	ENST00000301067	D	0.82255	-1.59	5.78	5.78	0.91487	.	0.000000	0.35040	N	0.003486	D	0.90038	0.6889	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90326	0.4348	10	0.87932	D	0	.	18.7857	0.91954	0.0:0.0:1.0:0.0	.	1309	O14686	MLL2_HUMAN	L	1309	ENSP00000301067:P1309L	ENSP00000301067:P1309L	P	-	2	0	MLL2	47729249	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.570000	0.98174	2.740000	0.93945	0.313000	0.20887	CCA		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	13	0	0	0	1	0	8	13				
USP30	84749	broad.mit.edu	37	12	109494590	109494590	+	Silent	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:109494590A>C	ENST00000257548.5	+	2	280	c.187A>C	c.(187-189)Aga>Cga	p.R63R	USP30-AS1_ENST00000478808.2_RNA|USP30_ENST00000392784.2_Silent_p.R32R	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	63					mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AAAGAAGCGTAGAAAAGGTAA	0.423																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(187-189)Aga>Cga		ubiquitin specific peptidase 30							112.0	118.0	116.0					12																	109494590		2203	4300	6503	SO:0001819	synonymous_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109494590A>C	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.187A>C	12.37:g.109494590A>C						USP30_ENST00000392784.2_Silent_p.R32R	p.R63R	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			2	280	+			63					Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	ENST00000257548.5	37	c.187A>C	CCDS9123.2																																																																																				0.423	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		16	55	0	0	0	1	0	16	55				
ULBP2	80328	broad.mit.edu	37	6	150267593	150267593	+	Silent	SNP	G	G	A	rs532592146		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:150267593G>A	ENST00000367351.3	+	3	508	c.435G>A	c.(433-435)ggG>ggA	p.G145G		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	145	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GTTTCGATGGGCAGATCTTCC	0.507													N|||	1	0.000199681	0.0	0.0	5008	,	,		19815	0.0		0.001	False		,,,				2504	0.0					ENST00000367351.3																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10						c.(433-435)ggG>ggA		UL16 binding protein 2							245.0	221.0	229.0					6																	150267593		2203	4300	6503	SO:0001819	synonymous_variant	80328				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity	g.chr6:150267593G>A	AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.435G>A	6.37:g.150267593G>A							p.G145G	NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	508	+		Ovarian(120;0.0907)	145			MHC class I alpha-2 like.		Q5VUN4	Silent	SNP	ENST00000367351.3	37	c.435G>A	CCDS5222.1																																																																																				0.507	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042669.1			105	123	0	0	0	1	0	105	123				
PRR23B	389151	broad.mit.edu	37	3	138739287	138739287	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:138739287G>C	ENST00000329447.5	-	1	481	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	73										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGTCGTCCAGGGGCACACGC	0.701																																						ENST00000329447.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(217-219)Ctg>Gtg		proline rich 23B							23.0	21.0	22.0					3																	138739287		2201	4295	6496	SO:0001583	missense	389151							g.chr3:138739287G>C	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.217C>G	3.37:g.138739287G>C	ENSP00000328768:p.Leu73Val					MRPS22_ENST00000495075.1_Intron	p.L73V	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN			1	481	-			73					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.217C>G	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.498961	0.44455	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.15	2.25	0.28309	.	0.978923	0.08299	N	0.967274	T	0.53045	0.1772	M	0.66939	2.045	0.09310	N	1	P	0.51240	0.943	P	0.53912	0.737	T	0.38845	-0.9642	9	0.72032	D	0.01	.	7.5473	0.27775	0.0:0.0:0.7446:0.2554	.	73	Q6ZRT6	PR23B_HUMAN	V	73	.	ENSP00000328768:L73V	L	-	1	2	PRR23B	140221977	0.027000	0.19231	0.019000	0.16419	0.157000	0.22087	1.636000	0.37144	0.863000	0.35553	0.491000	0.48974	CTG		0.701	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		6	58	0	0	0	1	0	6	58				
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCGCAGGCCAACACTCACTG	0.617																																						ENST00000414583.2																			0																																																			0							g.chr22:24659578A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659578A>G								NR_003714.1						0	3103	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.617	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	31	0	0	0	1	0	5	31				
NCAPG2	54892	broad.mit.edu	37	7	158468184	158468184	+	Silent	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:158468184A>G	ENST00000409423.1	-	13	1483	c.1311T>C	c.(1309-1311)cgT>cgC	p.R437R	NCAPG2_ENST00000275830.10_Silent_p.R229R|NCAPG2_ENST00000449727.2_Silent_p.R437R|NCAPG2_ENST00000356309.3_Silent_p.R437R|NCAPG2_ENST00000409339.3_Silent_p.R437R	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	437					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AGACAGAACAACGAACATCAG	0.348																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(1309-1311)cgT>cgC		non-SMC condensin II complex, subunit G2							54.0	50.0	51.0					7																	158468184		1841	4094	5935	SO:0001819	synonymous_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158468184A>G	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1311T>C	7.37:g.158468184A>G						NCAPG2_ENST00000356309.3_Silent_p.R437R|NCAPG2_ENST00000449727.2_Silent_p.R437R|NCAPG2_ENST00000275830.10_Silent_p.R229R|NCAPG2_ENST00000409423.1_Silent_p.R437R	p.R437R			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	12	1424	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	437					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	c.1311T>C	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	A	3.363	-0.130015	0.06753	.	.	ENSG00000146918	ENST00000441982	.	.	.	5.45	-1.12	0.09808	.	.	.	.	.	T	0.42517	0.1206	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27157	-1.0082	4	.	.	.	-17.8407	3.0199	0.06072	0.2433:0.222:0.4185:0.1161	.	.	.	.	A	239	.	.	V	-	2	0	NCAPG2	158160945	0.186000	0.23225	0.983000	0.44433	0.314000	0.28054	-0.491000	0.06474	-0.139000	0.11414	-0.297000	0.09499	GTT		0.348	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		12	22	0	0	0	1	0	12	22				
HCRTR2	3062	broad.mit.edu	37	6	55113469	55113469	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:55113469A>G	ENST00000370862.3	+	2	592	c.256A>G	c.(256-258)Agg>Ggg	p.R86G		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	86					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCACCACATGAGGACGGTAAC	0.448																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(256-258)Agg>Ggg		hypocretin (orexin) receptor 2							195.0	173.0	181.0					6																	55113469		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113469A>G	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.256A>G	6.37:g.55113469A>G	ENSP00000359899:p.Arg86Gly						p.R86G	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	592	+	Lung NSC(77;0.107)|Renal(3;0.122)		86					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.256A>G	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799130	0.70567	.	.	ENSG00000137252	ENST00000370862	T	0.45276	0.9	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.78311	-0.2253	10	0.87932	D	0	.	12.0126	0.53297	0.8455:0.1545:0.0:0.0	.	86;86	Q548Y0;O43614	.;OX2R_HUMAN	G	86	ENSP00000359899:R86G	ENSP00000359899:R86G	R	+	1	2	HCRTR2	55221428	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.150000	0.50662	1.992000	0.58205	0.528000	0.53228	AGG		0.448	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			17	125	0	0	0	1	0	17	125				
DNAH9	1770	broad.mit.edu	37	17	11651054	11651054	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:11651054T>A	ENST00000262442.4	+	32	6649	c.6581T>A	c.(6580-6582)aTc>aAc	p.I2194N	DNAH9_ENST00000454412.2_Missense_Mutation_p.I2194N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2194	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGGCATCATCAATCCAGCC	0.527																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6580-6582)aTc>aAc		dynein, axonemal, heavy chain 9							61.0	57.0	58.0					17																	11651054		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11651054T>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6581T>A	17.37:g.11651054T>A	ENSP00000262442:p.Ile2194Asn					DNAH9_ENST00000454412.2_Missense_Mutation_p.I2194N	p.I2194N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	32	6649	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2194			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6581T>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.154593	0.78114	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.56941	0.43;0.43	4.5	4.5	0.54988	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.062980	0.64402	D	0.000009	T	0.72661	0.3488	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.77752	-0.2470	10	0.87932	D	0	.	13.9979	0.64414	0.0:0.0:0.0:1.0	.	2194	Q9NYC9	DYH9_HUMAN	N	2194;2194;776	ENSP00000262442:I2194N;ENSP00000414874:I2194N	ENSP00000262442:I2194N	I	+	2	0	DNAH9	11591779	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.789000	0.85783	1.902000	0.55061	0.455000	0.32223	ATC		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		26	34	0	0	0	1	0	26	34				
CHAD	1101	broad.mit.edu	37	17	48545806	48545806	+	Silent	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:48545806G>A	ENST00000508540.1	-	1	521	c.369C>T	c.(367-369)acC>acT	p.T123T	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|CHAD_ENST00000258969.4_Silent_p.T123T|ACSF2_ENST00000541920.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	123					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGGTCAGCTCGGTCAGGTCGT	0.602																																						ENST00000508540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15						c.(367-369)acC>acT		chondroadherin							73.0	60.0	65.0					17																	48545806		2203	4300	6503	SO:0001819	synonymous_variant	1101				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr17:48545806G>A	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.369C>T	17.37:g.48545806G>A						ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|CHAD_ENST00000258969.4_Silent_p.T123T|ACSF2_ENST00000300441.4_Intron	p.T123T	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		1	521	-	Breast(11;1.93e-18)		123					A8K812|Q6GTU0|Q96RJ5	Silent	SNP	ENST00000508540.1	37	c.369C>T	CCDS11568.1																																																																																				0.602	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		7	147	0	0	0	1	0	7	147				
ITGA10	8515	broad.mit.edu	37	1	145538291	145538291	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:145538291C>T	ENST00000369304.3	+	23	2993	c.2818C>T	c.(2818-2820)Cac>Tac	p.H940Y	ITGA10_ENST00000539363.1_Missense_Mutation_p.H797Y|ITGA10_ENST00000538811.1_Missense_Mutation_p.H809Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	940					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATATGAGCCCCACCTCCTGTT	0.552																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2818-2820)Cac>Tac		integrin, alpha 10							156.0	126.0	136.0					1																	145538291		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145538291C>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2818C>T	1.37:g.145538291C>T	ENSP00000358310:p.His940Tyr					ITGA10_ENST00000539363.1_Missense_Mutation_p.H797Y|ITGA10_ENST00000538811.1_Missense_Mutation_p.H809Y	p.H940Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			23	2993	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		940					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.2818C>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	9.515	1.106691	0.20714	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.43688	0.94;0.94;0.94	5.8	4.87	0.63330	Integrin alpha-2 (1);	0.287888	0.33110	N	0.005279	T	0.21062	0.0507	L	0.29908	0.895	0.32885	D	0.511106	B;B;P;B	0.37122	0.013;0.451;0.583;0.288	B;B;B;B	0.40038	0.026;0.212;0.185;0.317	T	0.12604	-1.0541	10	0.52906	T	0.07	.	11.3652	0.49668	0.0:0.7674:0.2326:0.0	.	906;809;797;940	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	Y	940;906;797;809	ENSP00000358310:H940Y;ENSP00000439894:H797Y;ENSP00000440011:H809Y	ENSP00000358310:H940Y	H	+	1	0	ITGA10	144249648	1.000000	0.71417	0.855000	0.33649	0.087000	0.18053	4.294000	0.59043	2.755000	0.94549	0.655000	0.94253	CAC		0.552	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		47	122	0	0	0	1	0	47	122				
KDM1B	221656	broad.mit.edu	37	6	18215312	18215312	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:18215312G>C	ENST00000297792.5	+	16	1665	c.1488G>C	c.(1486-1488)caG>caC	p.Q496H	KDM1B_ENST00000388870.2_Missense_Mutation_p.Q729H|KDM1B_ENST00000397244.1_Missense_Mutation_p.Q497H|KDM1B_ENST00000546309.2_Missense_Mutation_p.Q19H			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	728					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ATGACAAACAGGTGCTGCAGC	0.577																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(2185-2187)caG>caC		lysine (K)-specific demethylase 1B							72.0	67.0	68.0					6																	18215312		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18215312G>C	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1488G>C	6.37:g.18215312G>C	ENSP00000297792:p.Gln496His					KDM1B_ENST00000397244.1_Missense_Mutation_p.Q497H|KDM1B_ENST00000546309.2_Missense_Mutation_p.Q19H|KDM1B_ENST00000297792.5_Missense_Mutation_p.Q496H	p.Q729H			Q8NB78	KDM1B_HUMAN			20	2428	+			728					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.2187G>C	CCDS34343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.30|18.30	3.594665|3.594665	0.66219|0.66219	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000546309;ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869|ENST00000449850	D;D;D;D|.	0.92858|.	-3.12;-3.12;-3.12;-3.12|.	5.99|5.99	5.12|5.12	0.69794|0.69794	Amine oxidase (1);|.	0.110104|.	0.64402|.	D|.	0.000007|.	T|T	0.59473|0.59473	0.2196|0.2196	M|M	0.76838|0.76838	2.35|2.35	0.48341|0.48341	D|D	0.999636|0.999636	P;D;D|.	0.76494|.	0.953;0.973;0.999|.	P;P;D|.	0.71184|.	0.796;0.878;0.972|.	T|T	0.62973|0.62973	-0.6740|-0.6740	10|5	0.56958|.	D|.	0.05|.	-8.328|-8.328	8.1416|8.1416	0.31086|0.31086	0.2351:0.0:0.7649:0.0|0.2351:0.0:0.7649:0.0	.|.	545;728;496|.	A2A2C4;Q8NB78;A2A2C6|.	.;KDM1B_HUMAN;.|.	H|T	19;729;497;496;726|546	ENSP00000442670:Q19H;ENSP00000373522:Q729H;ENSP00000380419:Q497H;ENSP00000297792:Q496H|.	ENSP00000297792:Q496H|.	Q|R	+|+	3|2	2|0	KDM1B|KDM1B	18323291|18323291	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	2.383000|2.383000	0.44354|0.44354	2.844000|2.844000	0.97970|0.97970	0.650000|0.650000	0.86243|0.86243	CAG|AGG		0.577	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		7	56	0	0	0	1	0	7	56				
SLC12A7	10723	broad.mit.edu	37	5	1075524	1075524	+	Silent	SNP	G	G	A	rs137990661		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:1075524G>A	ENST00000264930.5	-	15	1972	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	643					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGCCAGCGATGAGCATGGCGG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		19454	0.0		0.001	False		,,,				2504	0.0					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1927-1929)ctC>ctT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	G		2,4402	6.2+/-15.9	0,2,2200	67.0	60.0	63.0		1929	1.3	1.0	5	dbSNP_134	63	19,8581	14.0+/-48.4	0,19,4281	no	coding-synonymous	SLC12A7	NM_006598.2		0,21,6481	AA,AG,GG		0.2209,0.0454,0.1615		643/1084	1075524	21,12983	2202	4300	6502	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1075524G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1929C>T	5.37:g.1075524G>A							p.L643L	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		15	1972	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		643					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.1929C>T	CCDS34129.1																																																																																				0.637	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		30	62	0	0	0	1	0	30	62				
ARHGEF2	9181	broad.mit.edu	37	1	155920676	155920676	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:155920676G>A	ENST00000361247.4	-	20	2746	c.2647C>T	c.(2647-2649)Cgg>Tgg	p.R883W	ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R884W|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R928W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R882W|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R855W|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R855W	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	883					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGCGCCGCCGAGGATCCACA	0.677																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(2563-2565)Cgg>Tgg		Rho/Rac guanine nucleotide exchange factor (GEF) 2							34.0	39.0	37.0					1																	155920676		2194	4267	6461	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155920676G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2647C>T	1.37:g.155920676G>A	ENSP00000354837:p.Arg883Trp					ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R884W|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R855W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R882W|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R883W	p.R855W			Q92974	ARHG2_HUMAN			24	3033	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		883					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.2563C>T	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032161	0.35893	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.71817	-0.59;-0.48;-0.49;-0.59;-0.6	5.27	2.3	0.28687	.	0.000000	0.43919	D	0.000518	T	0.59689	0.2212	N	0.19112	0.55	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74023	0.948;0.948;0.977;0.982	T	0.60687	-0.7214	10	0.62326	D	0.03	-31.316	12.5934	0.56454	0.0:0.0:0.5671:0.4329	.	927;883;882;884	D3DVA5;Q92974;Q92974-2;Q5VY93	.;ARHG2_HUMAN;.;.	W	855;883;884;855;882	ENSP00000315325:R855W;ENSP00000354837:R883W;ENSP00000357298:R884W;ENSP00000357299:R855W;ENSP00000314787:R882W	ENSP00000314787:R882W	R	-	1	2	ARHGEF2	154187300	0.566000	0.26618	0.025000	0.17156	0.917000	0.54804	0.759000	0.26461	0.332000	0.23536	-0.182000	0.12963	CGG		0.677	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		36	151	0	0	0	1	0	36	151				
RAP1GAP2	23108	broad.mit.edu	37	17	2911416	2911416	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:2911416G>A	ENST00000254695.8	+	17	1561	c.1471G>A	c.(1471-1473)Ggg>Agg	p.G491R	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.G491R|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.G472R|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.G476R	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	491					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TGGAGGCCACGGGGGGTTCCT	0.582																																						ENST00000254695.8																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(1471-1473)Ggg>Agg		RAP1 GTPase activating protein 2							82.0	87.0	85.0					17																	2911416		1941	4127	6068	SO:0001583	missense	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2911416G>A	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1471G>A	17.37:g.2911416G>A	ENSP00000254695:p.Gly491Arg					RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.G491R|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.G472R|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.G476R	p.G491R	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN			17	1561	+			491					B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	c.1471G>A	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102430	0.94245	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.92199	-2.91;-2.99;-2.88;-2.91	5.41	5.41	0.78517	.	0.151515	0.64402	N	0.000016	D	0.96349	0.8809	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96621	0.9459	10	0.66056	D	0.02	-17.7504	18.1748	0.89758	0.0:0.0:1.0:0.0	.	476;491	Q684P5-2;Q684P5	.;RPGP2_HUMAN	R	491;476;472;491	ENSP00000254695:G491R;ENSP00000389824:G476R;ENSP00000439688:G472R;ENSP00000444890:G491R	ENSP00000254695:G491R	G	+	1	0	RAP1GAP2	2858166	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	9.869000	0.99810	2.528000	0.85240	0.462000	0.41574	GGG		0.582	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			10	64	0	0	0	1	0	10	64				
ZSWIM7	125150	broad.mit.edu	37	17	15884460	15884460	+	Splice_Site	SNP	T	T	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:15884460T>A	ENST00000399277.1	-	4	299		c.e4-2		ZSWIM7_ENST00000486655.1_Intron|ZSWIM7_ENST00000399280.2_Splice_Site|ZSWIM7_ENST00000472495.1_Splice_Site	NM_001042697.1|NM_001042698.1	NP_001036162.1|NP_001036163.1	Q19AV6	ZSWM7_HUMAN	zinc finger, SWIM-type containing 7						double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	zinc ion binding (GO:0008270)			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)		TCCAAGGACCTACAAAGAAAG	0.423																																						ENST00000399277.1																			0				upper_aerodigestive_tract(1)	1						c.e4-2		zinc finger, SWIM-type containing 7							94.0	89.0	90.0					17																	15884460		1927	4144	6071	SO:0001630	splice_region_variant	125150				DNA recombination|DNA repair	nucleus	zinc ion binding	g.chr17:15884460T>A	AK093384	CCDS42266.1	17p11.2	2014-02-12			ENSG00000214941	ENSG00000214941		"""Zinc fingers, SWIM-type"""	26993	protein-coding gene	gene with protein product	"""SWIM domain containing Srs2 interacting protein 1"""	614535				16710300	Standard	NM_001042698		Approved	SWS1	uc002gpf.3	Q19AV6	OTTHUMG00000059308	ENST00000399277.1:c.202-2A>T	17.37:g.15884460T>A						ZSWIM7_ENST00000486655.1_Intron|ZSWIM7_ENST00000472495.1_Splice_Site|ZSWIM7_ENST00000399280.2_Splice_Site		NM_001042697.1|NM_001042698.1	NP_001036162.1|NP_001036163.1	Q19AV6	ZSWM7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)	4	299	-									Splice_Site	SNP	ENST00000399277.1	37		CCDS42266.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598488	0.46318	.	.	ENSG00000214941	ENST00000399277;ENST00000472495	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1404	0.72607	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZSWIM7	15825185	1.000000	0.71417	0.990000	0.47175	0.352000	0.29268	6.849000	0.75414	2.180000	0.69256	0.482000	0.46254	.		0.423	ZSWIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131736.1	NM_001042697	Intron	10	25	0	0	0	1	0	10	25				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		5	73	0	0	0	1	0	5	73				
COG6	57511	broad.mit.edu	37	13	40297490	40297490	+	Silent	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr13:40297490A>C	ENST00000455146.3	+	16	1655	c.1605A>C	c.(1603-1605)acA>acC	p.T535T	COG6_ENST00000416691.1_Silent_p.T535T	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	535					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATTTGGACACACTTATAAATG	0.368																																						ENST00000416691.1																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(1603-1605)acA>acC		component of oligomeric golgi complex 6							111.0	105.0	107.0					13																	40297490		2203	4299	6502	SO:0001819	synonymous_variant	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40297490A>C	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1605A>C	13.37:g.40297490A>C						COG6_ENST00000455146.3_Silent_p.T535T	p.T535T	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	16	1705	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	535					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Silent	SNP	ENST00000455146.3	37	c.1605A>C	CCDS9370.1																																																																																				0.368	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			14	17	0	0	0	1	0	14	17				
ANKAR	150709	broad.mit.edu	37	2	190606164	190606164	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:190606164C>T	ENST00000520309.1	+	20	3885	c.3797C>T	c.(3796-3798)tCg>tTg	p.S1266L	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.S1266L|ANKAR_ENST00000431575.2_Missense_Mutation_p.S1195L	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1266						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CATTTGTACTCGGGAATAGAA	0.358																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3796-3798)tCg>tTg		ankyrin and armadillo repeat containing							55.0	55.0	55.0					2																	190606164		2203	4299	6502	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190606164C>T	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3797C>T	2.37:g.190606164C>T	ENSP00000427882:p.Ser1266Leu					ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.S1266L|ANKAR_ENST00000431575.2_Missense_Mutation_p.S1195L	p.S1266L	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		20	3885	+			1266					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.3797C>T	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890583	0.33348	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575;ENST00000374838	T;T;T	0.05025	3.51;3.51;3.51	5.54	5.54	0.83059	.	0.325052	0.25055	N	0.033499	T	0.14056	0.0340	M	0.72894	2.215	0.80722	D	1	D	0.58620	0.983	P	0.47402	0.546	T	0.00215	-1.1911	10	0.87932	D	0	-9.6389	13.929	0.63981	0.0:0.8474:0.1526:0.0	.	342	E9PHS9	.	L	1266;1266;1195;342	ENSP00000427882:S1266L;ENSP00000313513:S1266L;ENSP00000393043:S1195L	ENSP00000313513:S1266L	S	+	2	0	ANKAR	190314409	0.980000	0.34600	0.949000	0.38748	0.211000	0.24417	3.417000	0.52714	2.606000	0.88127	0.585000	0.79938	TCG		0.358	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		38	18	0	0	0	1	0	38	18				
MROH2B	133558	broad.mit.edu	37	5	40998212	40998212	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:40998212G>C	ENST00000399564.4	-	42	5150	c.4700C>G	c.(4699-4701)gCt>gGt	p.A1567G	MROH2B_ENST00000506092.2_Missense_Mutation_p.A1122G	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1567																	AGCAGCCTCAGCTGCTCTCTG	0.468																																						ENST00000399564.4																			0											c.(4699-4701)gCt>gGt		maestro heat-like repeat family member 2B							189.0	179.0	182.0					5																	40998212		1919	4140	6059	SO:0001583	missense	133558							g.chr5:40998212G>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4700C>G	5.37:g.40998212G>C	ENSP00000382476:p.Ala1567Gly					MROH2B_ENST00000506092.2_Missense_Mutation_p.A1122G	p.A1567G	NM_173489.4	NP_775760.3					42	5150	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.4700C>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830636	0.71258	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.73789	-0.78;-0.78	4.66	4.66	0.58398	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.47852	D	0.000215	D	0.83589	0.5287	M	0.72118	2.19	0.44234	D	0.997076	D	0.64830	0.994	D	0.68039	0.955	D	0.85075	0.0942	10	0.72032	D	0.01	.	13.2229	0.59899	0.0:0.0:1.0:0.0	.	1567	Q7Z745	HTRB2_HUMAN	G	1122;1272;1567	ENSP00000441504:A1122G;ENSP00000382476:A1567G	ENSP00000296803:A1272G	A	-	2	0	HEATR7B2	41033969	0.991000	0.36638	0.968000	0.41197	0.834000	0.47266	4.177000	0.58276	2.587000	0.87381	0.655000	0.94253	GCT		0.468	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		35	224	0	0	0	1	0	35	224				
SYT17	51760	broad.mit.edu	37	16	19195202	19195202	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr16:19195202C>A	ENST00000355377.2	+	5	1082	c.684C>A	c.(682-684)aaC>aaA	p.N228K	SYT17_ENST00000568115.1_Missense_Mutation_p.N167K|SYT17_ENST00000562711.2_Missense_Mutation_p.N224K|SYT17_ENST00000562034.1_Missense_Mutation_p.N167K	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	228	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CGCACTCCAACCCCTACGTCA	0.612																																						ENST00000562034.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(499-501)aaC>aaA		synaptotagmin XVII							129.0	120.0	123.0					16																	19195202		2197	4300	6497	SO:0001583	missense	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19195202C>A		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.684C>A	16.37:g.19195202C>A	ENSP00000347538:p.Asn228Lys					SYT17_ENST00000355377.2_Missense_Mutation_p.N228K|SYT17_ENST00000568115.1_Missense_Mutation_p.N167K|SYT17_ENST00000562711.2_Missense_Mutation_p.N224K	p.N167K			Q9BSW7	SYT17_HUMAN			3	4299	+			228					O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	c.501C>A	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	c	26.5	4.740276	0.89573	.	.	ENSG00000103528	ENST00000355377	T	0.08370	3.1	5.65	4.7	0.59300	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000002	T	0.24774	0.0601	M	0.85630	2.765	0.80722	D	1	P;P	0.44044	0.825;0.718	P;P	0.55667	0.781;0.781	T	0.00343	-1.1802	10	0.87932	D	0	.	8.6021	0.33751	0.0:0.7856:0.0:0.2144	.	228;167	Q9BSW7;B4DJB2	SYT17_HUMAN;.	K	228	ENSP00000347538:N228K	ENSP00000347538:N228K	N	+	3	2	SYT17	19102703	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.173000	0.42472	2.661000	0.90470	0.558000	0.71614	AAC		0.612	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		29	303	1	0	4.74835e-14	1	5.48892e-14	29	303				
MUC4	4585	broad.mit.edu	37	3	195511886	195511886	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:195511886G>C	ENST00000463781.3	-	2	7024	c.6565C>G	c.(6565-6567)Cac>Gac	p.H2189D	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H2189D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	978					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGCGTGACCTGTGGAT	0.602																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6565-6567)Cac>Gac		mucin 4, cell surface associated							10.0	14.0	13.0					3																	195511886		624	1531	2155	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511886G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6565C>G	3.37:g.195511886G>C	ENSP00000417498:p.His2189Asp					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H2189D	p.H2189D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7024	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	978					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.6565C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	G	0.275	-0.990344	0.02162	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.28069	1.63;1.68	.	.	.	.	.	.	.	.	T	0.15349	0.0370	N	0.19112	0.55	0.09310	N	1	B	0.17667	0.023	B	0.19946	0.027	T	0.30504	-0.9976	7	.	.	.	.	4.7077	0.12858	1.0E-4:0.0:0.6463:0.3536	.	2189	E7ESK3	.	D	2189	ENSP00000417498:H2189D;ENSP00000420243:H2189D	.	H	-	1	0	MUC4	196996281	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-2.561000	0.00921	-0.833000	0.04245	0.064000	0.15345	CAC		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	30	0	0	0	1	0	3	30				
ZC3H11A	9877	broad.mit.edu	37	1	203821496	203821496	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:203821496T>C	ENST00000545588.1	+	17	6229	c.2402T>C	c.(2401-2403)cTg>cCg	p.L801P	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L801P	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	801					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L801P(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGACCTTCTGCTTGAGCTA	0.388																																						ENST00000545588.1																			3	Substitution - Missense(3)	p.L801P(3)	lung(2)|endometrium(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2401-2403)cTg>cCg		zinc finger CCCH-type containing 11A							58.0	57.0	58.0					1																	203821496		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821496T>C		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2402T>C	1.37:g.203821496T>C	ENSP00000438527:p.Leu801Pro					ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L801P|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L801P	p.L801P	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6229	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		801					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.2402T>C	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.497945	0.44455	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	5.9	3.44	0.39384	.	0.000000	0.64402	D	0.000002	T	0.81029	0.4738	M	0.77103	2.36	0.80722	D	1	D	0.57257	0.979	P	0.58454	0.839	T	0.79992	-0.1569	10	0.46703	T	0.11	0.4071	8.3189	0.32117	0.1313:0.0:0.1373:0.7314	.	801	O75152	ZC11A_HUMAN	P	801;747;801;801;801;801	ENSP00000356183:L801P;ENSP00000356181:L801P;ENSP00000333253:L801P;ENSP00000438527:L801P;ENSP00000356179:L801P	ENSP00000333253:L801P	L	+	2	0	ZC3H11A	202088119	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.206000	0.72154	1.042000	0.40150	-0.321000	0.08615	CTG		0.388	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		4	59	0	0	0	1	0	4	59				
SLC10A5	347051	broad.mit.edu	37	8	82606605	82606605	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:82606605C>G	ENST00000518568.1	-	1	1804	c.603G>C	c.(601-603)ttG>ttC	p.L201F		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	201						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GCGCCTCAGGCAATGCCACAA	0.478																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(601-603)ttG>ttC		solute carrier family 10, member 5							81.0	87.0	85.0					8																	82606605		2203	4300	6503	SO:0001583	missense	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606605C>G		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.603G>C	8.37:g.82606605C>G	ENSP00000428612:p.Leu201Phe						p.L201F	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	1804	-			201					B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	c.603G>C	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102842	0.37145	.	.	ENSG00000253598	ENST00000518568	T	0.13657	2.57	6.1	1.88	0.25563	.	0.000000	0.43416	D	0.000561	T	0.30510	0.0767	M	0.79258	2.445	0.32190	N	0.579214	D	0.89917	1.0	D	0.91635	0.999	T	0.31110	-0.9955	10	0.66056	D	0.02	-13.8705	4.1417	0.10196	0.0:0.4339:0.168:0.3981	.	201	Q5PT55	NTCP5_HUMAN	F	201	ENSP00000428612:L201F	ENSP00000428612:L201F	L	-	3	2	SLC10A5	82769160	1.000000	0.71417	0.381000	0.26106	0.223000	0.24884	0.896000	0.28377	0.476000	0.27440	-0.145000	0.13849	TTG		0.478	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		10	301	0	0	0	1	0	10	301				
SAV1	60485	broad.mit.edu	37	14	51132202	51132202	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr14:51132202G>C	ENST00000324679.4	-	2	593	c.230C>G	c.(229-231)cCa>cGa	p.P77R	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	77					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					TCTTTGAATTGGAGTTCTAAG	0.393																																						ENST00000324679.4																			0				breast(1)|kidney(2)|lung(2)|prostate(1)	6						c.(229-231)cCa>cGa		salvador homolog 1 (Drosophila)							51.0	43.0	46.0					14																	51132202		2203	4299	6502	SO:0001583	missense	60485				hippo signaling cascade	cytoplasm|nucleus	identical protein binding	g.chr14:51132202G>C	AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"""WW domain-containing adaptor 45"""	607203	"""salvador homolog 1 (Drosophila)"""			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.230C>G	14.37:g.51132202G>C	ENSP00000324729:p.Pro77Arg						p.P77R	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN			2	593	-	all_epithelial(31;0.000611)|Breast(41;0.0333)		77					A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Missense_Mutation	SNP	ENST00000324679.4	37	c.230C>G	CCDS9701.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722349	0.48728	.	.	ENSG00000151748	ENST00000555720;ENST00000324679;ENST00000535862	T;T	0.45668	0.89;1.03	5.14	4.24	0.50183	.	0.165659	0.53938	D	0.000045	T	0.30293	0.0760	L	0.27053	0.805	0.45318	D	0.998317	B	0.13145	0.007	B	0.08055	0.003	T	0.12041	-1.0563	10	0.54805	T	0.06	-2.4612	12.1311	0.53944	0.0826:0.0:0.9174:0.0	.	77	Q9H4B6	SAV1_HUMAN	R	9;77;44	ENSP00000451492:P9R;ENSP00000324729:P77R	ENSP00000324729:P77R	P	-	2	0	SAV1	50201952	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.301000	0.72782	2.397000	0.81536	0.563000	0.77884	CCA		0.393	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			5	12	0	0	0	1	0	5	12				
C17orf70	80233	broad.mit.edu	37	17	79514331	79514331	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:79514331C>T	ENST00000327787.8	-	5	1823	c.1777G>A	c.(1777-1779)Gac>Aac	p.D593N	C17orf70_ENST00000537152.1_Missense_Mutation_p.D442N|C17orf70_ENST00000425898.2_Missense_Mutation_p.D242N			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	593					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D442N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACGGGCAGGTCGAGCCCGCCG	0.682																																						ENST00000537152.1																			1	Substitution - Missense(1)	p.D442N(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1324-1326)Gac>Aac		chromosome 17 open reading frame 70							31.0	31.0	31.0					17																	79514331		2202	4290	6492	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79514331C>T	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1777G>A	17.37:g.79514331C>T	ENSP00000333283:p.Asp593Asn					C17orf70_ENST00000327787.8_Missense_Mutation_p.D593N|C17orf70_ENST00000425898.2_Missense_Mutation_p.D242N	p.D442N	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		5	1849	-	all_neural(118;0.0878)|Melanoma(429;0.242)		593					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.1324G>A	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166769	0.38217	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000537152	T;T;T	0.33865	1.39;1.39;1.39	4.49	2.51	0.30379	.	0.325435	0.29093	N	0.013164	T	0.29556	0.0737	M	0.63428	1.95	0.19775	N	0.999959	B;P	0.38745	0.389;0.645	B;B	0.30572	0.039;0.117	T	0.14839	-1.0458	10	0.48119	T	0.1	.	9.3926	0.38383	0.0:0.8235:0.0:0.1765	.	593;242	Q0VG06;E7EVV8	FP100_HUMAN;.	N	593;242;442	ENSP00000333283:D593N;ENSP00000399674:D242N;ENSP00000440151:D442N	ENSP00000333283:D593N	D	-	1	0	C17orf70	77124784	0.481000	0.25941	0.157000	0.22605	0.161000	0.22273	1.164000	0.31810	0.532000	0.28657	0.561000	0.74099	GAC		0.682	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		31	80	0	0	0	1	0	31	80				
CCNE2	9134	broad.mit.edu	37	8	95900250	95900250	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:95900250A>T	ENST00000520509.1	-	7	757	c.505T>A	c.(505-507)Ttt>Att	p.F169I	RP11-347C18.5_ENST00000605911.1_RNA|CCNE2_ENST00000308108.4_Missense_Mutation_p.F169I|CCNE2_ENST00000396133.3_Missense_Mutation_p.F169I|CCNE2_ENST00000523476.1_5'UTR			O96020	CCNE2_HUMAN	cyclin E2	169					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CTATCAAAAAAGTCTTGTGCA	0.294																																						ENST00000520509.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(505-507)Ttt>Att		cyclin E2							62.0	67.0	65.0					8																	95900250		2200	4271	6471	SO:0001583	missense	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95900250A>T	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.505T>A	8.37:g.95900250A>T	ENSP00000429089:p.Phe169Ile					CCNE2_ENST00000308108.4_Missense_Mutation_p.F169I|CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000396133.3_Missense_Mutation_p.F169I	p.F169I			O96020	CCNE2_HUMAN			7	757	-	Breast(36;8.75e-07)		169					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.505T>A	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.554609	0.86231	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133	T;T;T	0.10005	2.92;2.92;2.92	5.89	5.89	0.94794	Cyclin, N-terminal (2);Cyclin-like (3);	0.092655	0.85682	D	0.000000	T	0.07863	0.0197	N	0.11341	0.13	0.58432	D	0.999997	P;P	0.47841	0.901;0.816	P;B	0.46389	0.515;0.255	T	0.14008	-1.0488	10	0.02654	T	1	.	16.3158	0.82923	1.0:0.0:0.0:0.0	.	169;169	Q8WUE3;O96020	.;CCNE2_HUMAN	I	169;169;61;169	ENSP00000429089:F169I;ENSP00000309181:F169I;ENSP00000379437:F169I	ENSP00000309181:F169I	F	-	1	0	CCNE2	95969426	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.265000	0.78442	2.254000	0.74563	0.533000	0.62120	TTT		0.294	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		58	21	0	0	0	1	0	58	21				
LRRC75A	388341	broad.mit.edu	37	17	16344525	16344525	+	IGR	SNP	A	A	G	rs183500543	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:16344525A>G	ENST00000409083.3	-	0	2656				C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						ACTCGCTTCAAAAAAAAAAGA	0.408													A|||	15	0.00299521	0.0113	0.0	5008	,	,		19709	0.0		0.0	False		,,,				2504	0.0					ENST00000475953.1																			0																				57.0	53.0	54.0					17																	16344525		876	1991	2867	SO:0001628	intergenic_variant	0							g.chr17:16344525A>G																													17.37:g.16344525A>G						C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA		NR_027667.1						0	540	+									RNA	SNP	ENST00000409083.3	37		CCDS11178.2																																																																																				0.408	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130461.2			30	2	0	0	0	1	0	30	2				
GPR4	2828	broad.mit.edu	37	19	46094975	46094975	+	Silent	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:46094975G>A	ENST00000323040.4	-	2	1094	c.150C>T	c.(148-150)aaC>aaT	p.N50N	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	50					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(148-150)aaC>aaT		G protein-coupled receptor 4							87.0	70.0	76.0					19																	46094975		2203	4300	6503	SO:0001819	synonymous_variant	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094975G>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.150C>T	19.37:g.46094975G>A						OPA3_ENST00000544371.1_Intron	p.N50N	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1094	-			50					A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	c.150C>T	CCDS12669.1																																																																																				0.617	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		4	131	0	0	0	1	0	4	131				
DNAJB12	54788	broad.mit.edu	37	10	74096299	74096299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:74096299C>T	ENST00000444643.2	-	7	1321	c.989G>A	c.(988-990)tGg>tAg	p.W330*	DNAJB12_ENST00000338820.3_Nonsense_Mutation_p.W364*|DNAJB12_ENST00000394903.2_Nonsense_Mutation_p.W364*|DNAJB12_ENST00000461919.1_Nonsense_Mutation_p.W125*			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	330						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						CTTCTCCTTCCAGCAGTTGTT	0.562																																						ENST00000338820.3																			0				endometrium(1)|large_intestine(2)|skin(1)	4						c.(1090-1092)tGg>tAg		DnaJ (Hsp40) homolog, subfamily B, member 12							141.0	130.0	134.0					10																	74096299		2203	4300	6503	SO:0001587	stop_gained	54788				protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr10:74096299C>T	AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"""Heat shock proteins / DNAJ (HSP40)"""	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.989G>A	10.37:g.74096299C>T	ENSP00000403313:p.Trp330*					DNAJB12_ENST00000444643.2_Nonsense_Mutation_p.W330*|DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000394903.2_Nonsense_Mutation_p.W364*	p.W364*	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN			7	1240	-			330					B7Z7I3|Q9H6H0	Nonsense_Mutation	SNP	ENST00000444643.2	37	c.1091G>A		.	.	.	.	.	.	.	.	.	.	C	39	7.493958	0.98319	.	.	ENSG00000148719	ENST00000338820;ENST00000394903;ENST00000444643	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.3754	20.3214	0.98679	0.0:1.0:0.0:0.0	.	.	.	.	X	364;364;330	.	ENSP00000345575:W364X	W	-	2	0	DNAJB12	73766305	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.804000	0.96469	0.655000	0.94253	TGG		0.562	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048581.2			43	101	0	0	0	1	0	43	101				
KCNMA1	3778	broad.mit.edu	37	10	78709043	78709043	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:78709043C>A	ENST00000286628.8	-	22	2565	c.2566G>T	c.(2566-2568)Ggc>Tgc	p.G856C	KCNMA1_ENST00000372443.1_Missense_Mutation_p.G798C|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G839C|KCNMA1_ENST00000286627.5_Missense_Mutation_p.G798C|RP11-443A13.5_ENST00000426234.1_RNA|RP11-443A13.5_ENST00000598613.1_RNA|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000608791.1_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G798C|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G856C|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G859C|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G860C	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	856	Segment S9.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TTCCGGAGGCCGATCAGGGCT	0.557																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(2392-2394)Ggc>Tgc		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						78.0	71.0	73.0					10																	78709043		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78709043C>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2566G>T	10.37:g.78709043C>A	ENSP00000286628:p.Gly856Cys					KCNMA1_ENST00000406533.3_Missense_Mutation_p.G860C|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G856C|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G798C|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G856C|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G798C|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G839C|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G859C	p.G798C	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		21	3344	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		856					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.2392G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.143714|5.143714	0.94603|0.94603	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208	T;T;T;T;T;T;T;T;T|.	0.54675|.	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56|.	5.63|5.63	5.63|5.63	0.86233|0.86233	NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81451|0.81451	0.4825|0.4825	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	T|T	0.80564|0.80564	-0.1326|-0.1326	10|5	0.87932|.	D|.	0|.	-12.8217|-12.8217	20.0442|20.0442	0.97604|0.97604	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	827;801;839;856;798;609;859;798|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	C|L	798;735;791;830;793;798;798;830;860;859;839;609|786;505	ENSP00000361517:G798C;ENSP00000361485:G735C;ENSP00000361514:G791C;ENSP00000396608:G830C;ENSP00000361520:G798C;ENSP00000286627:G798C;ENSP00000385552:G860C;ENSP00000346321:G859C;ENSP00000385806:G839C|.	ENSP00000286627:G798C|.	G|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78379049|78379049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.776000|7.776000	0.85560|0.85560	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.557	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		7	78	1	0	8.12818e-05	1	8.98378e-05	7	78				
PHF3	23469	broad.mit.edu	37	6	64394337	64394337	+	Silent	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:64394337T>C	ENST00000262043.3	+	4	1054	c.714T>C	c.(712-714)caT>caC	p.H238H	PHF3_ENST00000509330.1_Silent_p.H238H|PHF3_ENST00000393387.1_Silent_p.H238H			Q92576	PHF3_HUMAN	PHD finger protein 3	238					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATTCTAAGCATAAGTGTAATA	0.348																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(712-714)caT>caC		PHD finger protein 3							111.0	102.0	105.0					6																	64394337		2203	4300	6503	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394337T>C	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.714T>C	6.37:g.64394337T>C						PHF3_ENST00000509330.1_Silent_p.H238H|PHF3_ENST00000393387.1_Silent_p.H238H	p.H238H			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	1054	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		238					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.714T>C	CCDS4966.1																																																																																				0.348	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			4	122	0	0	0	1	0	4	122				
NR4A3	8013	broad.mit.edu	37	9	102595040	102595040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:102595040C>T	ENST00000395097.2	+	4	1750	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*	NR4A3_ENST00000330847.1_Nonsense_Mutation_p.R352*|NR4A3_ENST00000338488.4_Nonsense_Mutation_p.R341*	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	341					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CAAGAGACGTCGAAACCGATG	0.368			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(1054-1056)Cga>Tga		nuclear receptor subfamily 4, group A, member 3							131.0	125.0	127.0					9																	102595040		2203	4300	6503	SO:0001587	stop_gained	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102595040C>T	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1021C>T	9.37:g.102595040C>T	ENSP00000378531:p.Arg341*					NR4A3_ENST00000395097.2_Nonsense_Mutation_p.R341*|NR4A3_ENST00000338488.4_Nonsense_Mutation_p.R341*	p.R352*			Q92570	NR4A3_HUMAN			3	1098	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	341					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Nonsense_Mutation	SNP	ENST00000395097.2	37	c.1054C>T	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871283	0.91587	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000395096;ENST00000330847	.	.	.	5.6	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8375	0.63419	0.2786:0.7214:0.0:0.0	.	.	.	.	X	341;341;165;352	.	ENSP00000333122:R352X	R	+	1	2	NR4A3	101634861	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.910000	0.48766	1.477000	0.48234	-0.188000	0.12872	CGA		0.368	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			44	5	0	0	0	1	0	44	5				
RP5-1180C18.1	0	broad.mit.edu	37	1	37738061	37738061	+	lincRNA	DEL	G	G	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:37738061delG	ENST00000413901.1	-	0	233																											GGTGCTGCTAGGGAGCTGGCC	0.622																																						ENST00000413901.1																			0																																																			0							g.chr1:37738061delG																													1.37:g.37738061delG														0	233	-									RNA	DEL	ENST00000413901.1	37																																																																																						0.622	RP5-1180C18.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000012052.1			2	4						2	4	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	145015930	145015930	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:145015930delT	ENST00000530740.1	-	3	409	c.371delA	c.(370-372)cagfs	p.Q124fs	RP11-326G21.1_ENST00000610119.1_RNA|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.Q53fs|PDE4DIP_ENST00000369348.3_Frame_Shift_Del_p.Q124fs|PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.Q124fs|PDE4DIP_ENST00000493130.2_Frame_Shift_Del_p.Q53fs|PDE4DIP_ENST00000478649.2_Frame_Shift_Del_p.Q53fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAATATGTCTGCACAAACGG	0.453			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(370-372)cgfs		phosphodiesterase 4D interacting protein							361.0	410.0	394.0					1																	145015930		2203	4300	6503	SO:0001589	frameshift_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145015930delT	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.371delA	1.37:g.145015930delT	ENSP00000435654:p.Gln124fs					PDE4DIP_ENST00000369348.3_Frame_Shift_Del_p.Q124fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.Q124fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.Q53fs|PDE4DIP_ENST00000493130.2_Frame_Shift_Del_p.Q53fs|PDE4DIP_ENST00000478649.2_Frame_Shift_Del_p.Q53fs	p.Q124fs			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	3	409	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Frame_Shift_Del	DEL	ENST00000530740.1	37	c.371delA																																																																																					0.453	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		19	657						19	657	---	---	---	---
LOC645166	645166	broad.mit.edu	37	1	148944038	148944038	+	lincRNA	DEL	A	A	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:148944038delA	ENST00000539543.1	+	0	254					NR_027355.2																						tccacctcagaaaaaaaaaaa	0.483																																						ENST00000539543.1																			0																																																			0							g.chr1:148944038delA																													1.37:g.148944038delA								NR_027355.1						0	254	+									RNA	DEL	ENST00000539543.1	37																																																																																						0.483	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				6	7						6	7	---	---	---	---
QRSL1P2	100422330	broad.mit.edu	37	1	222435902	222435903	+	lincRNA	INS	-	-	T	rs538369313	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:222435902_222435903insT	ENST00000416510.1	-	0	167																											ATGGTACAAGATTTTTTTTGGA	0.381													TTTTTTTTT|TTTTTTTT|TTTTTTTTT|deletion	24	0.00479233	0.0	0.0	5008	,	,		21827	0.0		0.0	False		,,,				2504	0.0245					ENST00000416510.1																			0																																																			0							g.chr1:222435902_222435903insT																													1.37:g.222435910_222435910dupT														0	167	-									RNA	INS	ENST00000416510.1	37																																																																																						0.381	RP11-400N13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000090767.1			13	32						13	32	---	---	---	---
LOC653712	653712	broad.mit.edu	37	3	128587316	128587316	+	RNA	DEL	A	A	-	rs548146858	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:128587316delA	ENST00000498297.1	-	0	410				RP11-723O4.2_ENST00000480931.1_RNA	NR_034179.1																						cctgtctcttaaaaaaaaaag	0.418													|||unknown(HR)	8	0.00159744	0.0015	0.0	5008	,	,		19038	0.0		0.004	False		,,,				2504	0.002					ENST00000498297.1																			0																																																			0							g.chr3:128587316delA																													3.37:g.128587316delA								NR_034179.1						0	410	-									RNA	DEL	ENST00000498297.1	37																																																																																						0.418	RP11-723O4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000357491.1			2	4						2	4	---	---	---	---
RP11-197K6.1	0	broad.mit.edu	37	3	191281594	191281595	+	lincRNA	INS	-	-	C	rs56745430|rs80353305	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:191281594_191281595insC	ENST00000439804.1	+	0	61																											TCTTAAGAGTTCGTCAATGGCA	0.371													CC|C|CC|deletion	3194	0.63778	0.8071	0.5072	5008	,	,		14332	0.7768		0.4105	False		,,,				2504	0.592					ENST00000439804.1																			0																																																			0							g.chr3:191281594_191281595insC																													3.37:g.191281595_191281595dupC														0	61	+									RNA	INS	ENST00000439804.1	37																																																																																						0.371	RP11-197K6.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000343232.1			2	4						2	4	---	---	---	---
MIR570	693155	broad.mit.edu	37	3	195426368	195426369	+	RNA	INS	-	-	C	rs549070593|rs371424483	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:195426368_195426369insC	ENST00000384917.1	+	0	97					NR_030296.1				microRNA 570																		cctgaTGGAGTCCCCCTTGCCA	0.426													cccccc|CCCCC|CCCCCC|deletion	40	0.00798722	0.0303	0.0	5008	,	,		35095	0.0		0.0	False		,,,				2504	0.0					ENST00000384917.1																			0																	101,3849		3,95,1877							0.1			36	0,7538		0,0,3769	no	intergenic				3,95,5646	A1A1,A1R,RR		0.0,2.557,0.8792				101,11387						0							g.chr3:195426368_195426369insC			3	2011-09-12		2008-12-18	ENSG00000207650	ENSG00000207650		"""ncRNAs / Micro RNAs"""	32826	non-coding RNA	RNA, micro		614538		MIRN570			Standard	NR_030296		Approved	hsa-mir-570	uc021xjf.1				3.37:g.195426373_195426373dupC														0	97	+									RNA	INS	ENST00000384917.1	37																																																																																						0.426	MIR570-201	KNOWN	basic	miRNA	miRNA		NR_030296		7	7						7	7	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs112774151|rs63118461		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tcc>tcATCc	p.2026_2026S>SS	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2026S>SS	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S2026_T2027insS(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCAGTGGATGCTGAGGA	0.579																																						ENST00000463781.3																			3	Insertion - In frame(3)	p.S2026_T2027insS(3)	large_intestine(2)|breast(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6076-6078)tac>tATCac		mucin 4, cell surface associated			,,	1110,2296		177,756,770					,,		0.0		dbSNP_130	24	1888,5346		82,1724,1811	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	259,2480,2581	A1A1,A1R,RR		26.099,32.5895,28.1767	,,	,,		2998,7642				SO:0001652	inframe_insertion	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195512373_195512374insGAT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6075_6077dupATC	3.37:g.195512374_195512376dupGAT	ENSP00000417498:p.Ser2026dup					MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.2026_2027insH	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6536_6537	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	798					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Ins	INS	ENST00000463781.3	37	c.6077_6078insATC	CCDS54700.1																																																																																				0.579	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		8	19						8	19	---	---	---	---
LYRM2	57226	broad.mit.edu	37	6	90348404	90348404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:90348404delA	ENST00000523377.1	-	1	68	c.32delT	c.(31-33)ctafs	p.L11fs	LYRM2_ENST00000520441.1_Frame_Shift_Del_p.L11fs|LYRM2_ENST00000520318.1_Frame_Shift_Del_p.L11fs|LYRM2_ENST00000517396.1_5'Flank	NM_020466.4	NP_065199.1	Q9NU23	LYRM2_HUMAN	LYR motif containing 2	11						mitochondrion (GO:0005739)				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)		CTTTAACGTTAGCGTCGCTGG	0.632																																						ENST00000523377.1																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(31-33)cafs		LYR motif containing 2							98.0	97.0	97.0					6																	90348404		2203	4300	6503	SO:0001589	frameshift_variant	57226							g.chr6:90348404delA	BC009782	CCDS5023.1	6q15	2006-09-19			ENSG00000083099	ENSG00000083099		"""LYR motif containing"""	25229	protein-coding gene	gene with protein product						12477932	Standard	NM_020466		Approved	DJ122O8.2	uc003pnm.3	Q9NU23	OTTHUMG00000015203	ENST00000523377.1:c.32delT	6.37:g.90348404delA	ENSP00000430025:p.Leu11fs					LYRM2_ENST00000520441.1_Frame_Shift_Del_p.L11fs|LYRM2_ENST00000520318.1_Frame_Shift_Del_p.L11fs	p.L11fs	NM_020466.4	NP_065199.1	Q9NU23	LYRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0131)	1	68	-		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)	11					B2R4U2|E1P517	Frame_Shift_Del	DEL	ENST00000523377.1	37	c.32delT	CCDS5023.1																																																																																				0.632	LYRM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041498.2	NM_020466		11	404						11	404	---	---	---	---
RP11-368M16.3	0	broad.mit.edu	37	7	57701099	57701099	+	RNA	DEL	T	T	-	rs141823826		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:57701099delT	ENST00000605139.1	-	0	416																											ctggccCAAGTTTTTTTCTAT	0.522																																						ENST00000605139.1																			0																																																			0							g.chr7:57701099delT																													7.37:g.57701099delT														0	416	-									RNA	DEL	ENST00000605139.1	37																																																																																						0.522	RP11-368M16.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000468775.1			3	3						3	3	---	---	---	---
PMS2P3	5387	broad.mit.edu	37	7	75154977	75154977	+	RNA	DEL	A	A	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:75154977delA	ENST00000418756.1	-	0	618					NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						actccgtctcaaaaaaaaaaa	0.557																																					NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1																																														0							g.chr7:75154977delA	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75154977delA								NR_028059.1						0	618	-								A6NG70|Q3MJ29	RNA	DEL	ENST00000418756.1	37																																																																																						0.557	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		3	5						3	5	---	---	---	---
PENK	5179	broad.mit.edu	37	8	57360009	57360009	+	5'Flank	DEL	G	G	-	rs145278236	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:57360009delG	ENST00000314922.3	-	0	0				PENK_ENST00000523051.1_5'Flank|RP11-17A4.2_ENST00000518662.1_RNA|PENK_ENST00000451791.2_5'Flank|PENK_ENST00000523274.1_5'Flank|PENK_ENST00000518770.1_5'Flank	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin						aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CAGGGTGTCCGGGGGTGTTGG	0.647													GGGGG|GGGGG|GGGG|deletion	272	0.0543131	0.0703	0.0187	5008	,	,		13366	0.0605		0.0199	False		,,,				2504	0.0869					ENST00000518662.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr8:57360009delG		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210			8.37:g.57360009delG	Exception_encountered													0	694	+								B2RC23|Q6FHC6|Q6FHE6	RNA	DEL	ENST00000314922.3	37		CCDS6168.1																																																																																				0.647	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			6	1						6	1	---	---	---	---
FLJ42969	441374	broad.mit.edu	37	8	102075686	102075687	+	lincRNA	INS	-	-	TG	rs149152204|rs58129155	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:102075686_102075687insTG	ENST00000514926.1	+	0	865					NR_033962.1																						Atgtctgtgtttgtgtgtgtgt	0.54														2908	0.580671	0.5522	0.5533	5008	,	,		19223	0.6339		0.6213	False		,,,				2504	0.5419					ENST00000514926.1																			0																																																			0							g.chr8:102075686_102075687insTG																													8.37:g.102075695_102075696dupTG								NR_033962.1						0	865	+									RNA	INS	ENST00000514926.1	37																																																																																						0.540	RP11-302J23.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000380249.1			2	4						2	4	---	---	---	---
RP11-369K17.1	0	broad.mit.edu	37	8	122066506	122066506	+	lincRNA	DEL	G	G	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:122066506delG	ENST00000517739.1	+	0	188																											ctgtcttgttgatctgtctat	0.408																																						ENST00000517739.1																			0																																																			0							g.chr8:122066506delG																													8.37:g.122066506delG														0	188	+									RNA	DEL	ENST00000517739.1	37																																																																																						0.408	RP11-369K17.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000381541.1			2	4						2	4	---	---	---	---
LOC403323	403323	broad.mit.edu	37	9	66523894	66523894	+	lincRNA	DEL	C	C	-	rs112257086	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:66523894delC	ENST00000445604.2	-	0	947																											caattaaaggccccaacaaac	0.333													|||unknown(NO_COVERAGE)	158	0.0315495	0.0651	0.0159	5008	,	,		53865	0.0446		0.0089	False		,,,				2504	0.0072					ENST00000445604.2																			0																																																			0							g.chr9:66523894delC																													9.37:g.66523894delC														0	947	-									RNA	DEL	ENST00000445604.2	37																																																																																						0.333	RP11-262H14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037074.2			3	3						3	3	---	---	---	---
RP11-385N23.1	0	broad.mit.edu	37	10	7575258	7575259	+	RNA	INS	-	-	G	rs78551439|rs201378860	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:7575258_7575259insG	ENST00000414631.1	+	0	90_91																											agcatcactgcgggggcggggg	0.574													?|GGGGG|GGGGGG|unsure	1973	0.39397	0.5189	0.3674	5008	,	,		17743	0.3542		0.3439	False		,,,				2504	0.3364					ENST00000414631.1																			0																																																			0							g.chr10:7575258_7575259insG																													10.37:g.7575263_7575263dupG														0	90_91	+									RNA	INS	ENST00000414631.1	37																																																																																						0.574	RP11-385N23.1-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000046677.1			5	4						5	4	---	---	---	---
LOC105376671	105376671	broad.mit.edu	37	11	27503115	27503115	+	RNA	DEL	A	A	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:27503115delA	ENST00000529258.1	+	0	244																											GTGTAATCAGAAAACCAGCAC	0.393																																						ENST00000529258.1																			0																																																			0							g.chr11:27503115delA																													11.37:g.27503115delA														0	244	+									RNA	DEL	ENST00000529258.1	37																																																																																						0.393	RP11-159H22.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000387959.1			2	4						2	4	---	---	---	---
LINC00221	338005	broad.mit.edu	37	14	106938486	106938486	+	lincRNA	DEL	G	G	-	rs68155813		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr14:106938486delG	ENST00000334298.3	+	0	13					NR_027457.2				long intergenic non-protein coding RNA 221																		CAGCTGCCCCGGTGCTTcccg	0.736																																						ENST00000334298.3																			0																																																			0							g.chr14:106938486delG	AK058096		14q32.33	2013-05-31	2011-08-11	2011-08-11	ENSG00000187156	ENSG00000270816		"""Long non-coding RNAs"""	20169	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 98"", ""non-protein coding RNA 221"""	C14orf98, NCRNA00221			Standard	NR_027457		Approved		uc001ysy.2		OTTHUMG00000152084		14.37:g.106938486delG								NR_027457.1						0	13	+									RNA	DEL	ENST00000334298.3	37																																																																																						0.736	LINC00221-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000325180.1	NR_027457		3	3						3	3	---	---	---	---
ADCYAP1	116	broad.mit.edu	37	18	903640	903640	+	5'Flank	DEL	A	A	-	rs75906936|rs34860740	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr18:903640delA	ENST00000579794.1	+	0	0				RP11-672L10.2_ENST00000581719.2_RNA|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000580612.1_RNA|RP11-672L10.2_ENST00000577358.1_RNA|ADCYAP1_ENST00000450565.3_5'Flank	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)						activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ACGCTACAAGAGGGAAAGGAT	0.473													?|A|-|unsure	2639	0.526957	0.5877	0.5548	5008	,	,		17912	0.4107		0.5795	False		,,,				2504	0.4908					ENST00000581719.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr18:903640delA	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479		18.37:g.903640delA	Exception_encountered					RP11-672L10.3_ENST00000582554.1_RNA								0	3028	-								B2R7N4|Q52LQ0	RNA	DEL	ENST00000579794.1	37		CCDS11825.1																																																																																				0.473	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		3	3						3	3	---	---	---	---
CTC-548K16.2	0	broad.mit.edu	37	19	14473564	14473567	+	lincRNA	DEL	GGAA	GGAA	-	rs7507976|rs145512114|rs112094421|rs143051388	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:14473564_14473567delGGAA	ENST00000586698.1	-	0	119																											agaaagagagggaaggaaggaagg	0.436																																						ENST00000586698.1																			0																																																			0							g.chr19:14473564_14473567delGGAA																													19.37:g.14473572_14473575delGGAA														0	119	-									RNA	DEL	ENST00000586698.1	37																																																																																						0.436	CTC-548K16.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000459814.1			6	3						6	3	---	---	---	---
CTB-171A8.1	0	broad.mit.edu	37	19	45199272	45199272	+	RNA	DEL	G	G	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:45199272delG	ENST00000590796.1	-	0	408																											GGTGGGCAGCGGGGAGATGGA	0.512																																						ENST00000590796.1																			0																																																			0							g.chr19:45199272delG																													19.37:g.45199272delG														0	408	-									RNA	DEL	ENST00000590796.1	37																																																																																						0.512	CTB-171A8.1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000451613.1			2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11048496	11048497	+	RNA	DEL	AT	AT	-	rs113591690		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr21:11048496_11048497delAT	ENST00000470054.1	-	0	659							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAAAAGtcacatgttttatctc	0.396																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11048496_11048497delAT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11048496_11048497delAT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	659	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.396	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	3						3	3	---	---	---	---
