#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_ACHILLES_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
CAMTA1	23261	broad.mit.edu	37	1	7700570	7700570	+	Silent	SNP	G	G	A	rs370264033		TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr1:7700570G>A	ENST00000303635.7	+	7	828	c.621G>A	c.(619-621)gcG>gcA	p.A207A	CAMTA1_ENST00000439411.2_Silent_p.A207A	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGGAGTGGGCGAAATGGACGA	0.627			T	WWTR1	epitheliod hemangioendothelioma																																		uc001aoi.2		NA		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					0				ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(619-621)GCG>GCA		calmodulin-binding transcription activator 1		G		2,4404	4.2+/-10.8	0,2,2201	155.0	125.0	135.0		621	-10.7	0.2	1		135	0,8600		0,0,4300	no	coding-synonymous	CAMTA1	NM_015215.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		207/1674	7700570	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7700570G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.621G>A	1.37:g.7700570G>A							p.A207A	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	7	828	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	207					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.621G>A	CCDS30576.1																																																																																				0.627	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		27	73	0	0	0	0.001512	0	27	73				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																							uc009vos.1		NA																	0					0						c.e6+1		hypothetical protein LOC55672																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T						NBPF1_uc010oce.1_Intron		NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37	c.-35_splice																																																																																					0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	6	42	0	0	0	0.00116845	0	6	42				
NIPAL3	57185	broad.mit.edu	37	1	24786997	24786997	+	Missense_Mutation	SNP	G	G	T	rs542124168		TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr1:24786997G>T	ENST00000374399.4	+	10	1257	c.889G>T	c.(889-891)Ggg>Tgg	p.G297W	NIPAL3_ENST00000339255.2_Missense_Mutation_p.G297W|NIPAL3_ENST00000003912.3_Missense_Mutation_p.G215W	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	297						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GGACTTCATCGGGGAGGACGT	0.493																																							uc001bjh.2		NA																	0					0						c.(889-891)GGG>TGG		NIPA-like domain containing 3							163.0	135.0	144.0					1																	24786997		2203	4300	6503	SO:0001583	missense	57185					integral to membrane		g.chr1:24786997G>T	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.889G>T	1.37:g.24786997G>T	ENSP00000363520:p.Gly297Trp					NIPAL3_uc001bjg.2_Missense_Mutation_p.G297W|NIPAL3_uc009vrc.2_Missense_Mutation_p.G215W|NIPAL3_uc001bji.2_Missense_Mutation_p.R105L	p.G297W	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN			10	1296	+			297					A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	c.889G>T	CCDS30631.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813667	0.70912	.	.	ENSG00000001461	ENST00000374399;ENST00000003912;ENST00000339255	D;D;D	0.90676	-2.71;-2.24;-2.71	5.44	5.44	0.79542	.	0.297550	0.42682	D	0.000668	D	0.95268	0.8465	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	D	0.95498	0.8575	10	0.87932	D	0	-19.4618	19.2442	0.93895	0.0:0.0:1.0:0.0	.	297;297	Q6P499;A6NN97	NPAL3_HUMAN;.	W	297;215;297	ENSP00000363520:G297W;ENSP00000003912:G215W;ENSP00000343549:G297W	ENSP00000003912:G215W	G	+	1	0	NIPAL3	24659584	0.998000	0.40836	0.982000	0.44146	0.994000	0.84299	2.701000	0.47094	2.561000	0.86390	0.655000	0.94253	GGG		0.493	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		4	54	1	0	8.12818e-05	8.12818e-05	0.000441558	4	54				
ZNF644	84146	broad.mit.edu	37	1	91403507	91403507	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr1:91403507G>T	ENST00000370440.1	-	4	3440	c.3223C>A	c.(3223-3225)Cca>Aca	p.P1075T	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.P1075T|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1075					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACACAGATTGGAGATTTGTGA	0.368																																							uc001dnw.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(3223-3225)CCA>ACA		zinc finger protein 644 isoform 1							135.0	133.0	133.0					1																	91403507		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91403507G>T	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3223C>A	1.37:g.91403507G>T	ENSP00000359469:p.Pro1075Thr					ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron	p.P1075T	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	4	3365	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	1075					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.3223C>A	CCDS731.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415647	0.62511	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.06933	3.24;3.24	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00402	-1.1762	10	0.87932	D	0	-12.3654	20.1634	0.98142	0.0:0.0:1.0:0.0	.	1075	Q9H582	ZN644_HUMAN	T	1075;1075;647	ENSP00000359469:P1075T;ENSP00000337008:P1075T	ENSP00000337008:P1075T	P	-	1	0	ZNF644	91176095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.294000	0.96088	2.773000	0.95371	0.655000	0.94253	CCA		0.368	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		6	103	1	0	2.7689e-08	8.12818e-05	1.63691e-07	6	103				
ST7L	54879	broad.mit.edu	37	1	113124662	113124662	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr1:113124662C>G	ENST00000358039.4	-	9	1325	c.1021G>C	c.(1021-1023)Gaa>Caa	p.E341Q	ST7L_ENST00000544629.1_Missense_Mutation_p.E276Q|ST7L_ENST00000360743.4_Missense_Mutation_p.E341Q|ST7L_ENST00000543570.1_Missense_Mutation_p.E324Q|ST7L_ENST00000343210.7_Missense_Mutation_p.E341Q|ST7L_ENST00000369669.1_Missense_Mutation_p.E158Q|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369666.1_Missense_Mutation_p.E324Q|ST7L_ENST00000490067.1_Missense_Mutation_p.E324Q|ST7L_ENST00000369668.2_Missense_Mutation_p.E341Q|ST7L_ENST00000538187.1_Missense_Mutation_p.E285Q	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	341					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTGTAATTCTAAAAGTGAT	0.328																																							uc001ecd.2		NA																	0					0						c.(1021-1023)GAA>CAA		suppression of tumorigenicity 7-like isoform 1							105.0	106.0	106.0					1																	113124662		2203	4298	6501	SO:0001583	missense	54879				negative regulation of cell growth	integral to membrane	binding	g.chr1:113124662C>G	AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.1021G>C	1.37:g.113124662C>G	ENSP00000350734:p.Glu341Gln					ST7L_uc009wgh.2_Intron|ST7L_uc001ecc.2_Missense_Mutation_p.E158Q|ST7L_uc010owg.1_Missense_Mutation_p.E276Q|ST7L_uc010owh.1_Intron|ST7L_uc001ece.2_Missense_Mutation_p.E341Q|ST7L_uc001ecf.2_Missense_Mutation_p.E324Q|ST7L_uc001ecg.2_RNA|ST7L_uc010owi.1_Missense_Mutation_p.E276Q|ST7L_uc001ech.2_Missense_Mutation_p.E324Q|ST7L_uc001eci.2_Missense_Mutation_p.E341Q|ST7L_uc009wgi.1_RNA|ST7L_uc010owj.1_Missense_Mutation_p.E324Q	p.E341Q	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1326	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	341					A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	ENST00000358039.4	37	c.1021G>C	CCDS848.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278769	0.80692	.	.	ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000544629;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187;ENST00000543570;ENST00000369665	T;T;T;T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);	0.055829	0.64402	D	0.000001	T	0.49541	0.1563	M	0.82323	2.585	0.80722	D	1	D;P;D;D;D;D;D;D	0.71674	0.996;0.951;0.997;0.986;0.986;0.97;0.998;0.976	D;P;D;P;P;P;D;D	0.71184	0.959;0.753;0.972;0.885;0.885;0.885;0.925;0.93	T	0.54549	-0.8277	10	0.66056	D	0.02	-13.6178	19.1265	0.93386	0.0:1.0:0.0:0.0	.	324;285;276;341;324;324;341;341	B7Z8V6;B7Z7D4;F5H2P3;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4	.;.;.;.;.;.;.;ST7L_HUMAN	Q	341;341;276;158;324;341;341;324;285;324;219	ENSP00000350734:E341Q;ENSP00000353972:E341Q;ENSP00000445499:E276Q;ENSP00000358683:E158Q;ENSP00000417140:E324Q;ENSP00000358682:E341Q;ENSP00000345312:E341Q;ENSP00000358680:E324Q;ENSP00000444021:E285Q;ENSP00000444088:E324Q	ENSP00000345312:E341Q	E	-	1	0	ST7L	112926185	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.741000	0.68638	2.618000	0.88619	0.462000	0.41574	GAA		0.328	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3			3	62	0	0	0	0.00024832	0	3	62				
ANKRD34A	284615	broad.mit.edu	37	1	145474307	145474307	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr1:145474307T>G	ENST00000323397.4	+	4	2272	c.979T>G	c.(979-981)Tca>Gca	p.S327A	RP11-315I20.1_ENST00000600340.1_RNA|LIX1L_ENST00000369308.3_5'Flank	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	327	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGTCCCCCTTCAGGGCTGAG	0.647																																							uc001enq.1		NA																	0					0						c.(979-981)TCA>GCA		ankyrin repeat domain 34							37.0	41.0	40.0					1																	145474307		2203	4300	6503	SO:0001583	missense	284615							g.chr1:145474307T>G	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.979T>G	1.37:g.145474307T>G	ENSP00000314103:p.Ser327Ala					NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank	p.S327A	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			4	2272	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		327			Pro-rich.		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.979T>G	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	T	6.513	0.462895	0.12402	.	.	ENSG00000181039	ENST00000323397	T	0.72167	-0.63	4.95	-2.65	0.06095	.	2.498130	0.01663	N	0.025207	T	0.30448	0.0765	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23476	-1.0187	10	0.39692	T	0.17	-0.6109	9.2865	0.37760	0.0:0.0858:0.5693:0.3449	.	327	Q69YU3	AN34A_HUMAN	A	327	ENSP00000314103:S327A	ENSP00000314103:S327A	S	+	1	0	ANKRD34A	144185664	0.000000	0.05858	0.020000	0.16555	0.946000	0.59487	-1.355000	0.02612	-0.301000	0.08882	0.378000	0.23410	TCA		0.647	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			14	24	0	0	0	0.000308642	0	14	24				
OR10J3	441911	broad.mit.edu	37	1	159283480	159283480	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr1:159283480C>T	ENST00000332217.5	-	1	969	c.970G>A	c.(970-972)Gcg>Acg	p.A324T		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTATAAACGCAAAGGAAAAG	0.393																																							uc010piu.1		NA																	0				ovary(2)	2						c.(970-972)GCG>ACG		olfactory receptor, family 10, subfamily J,							51.0	56.0	54.0					1																	159283480		2203	4299	6502	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283480C>T		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.970G>A	1.37:g.159283480C>T	ENSP00000331789:p.Ala324Thr						p.A324T	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			1	970	-	all_hematologic(112;0.0429)		324			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000332217.5	37	c.970G>A	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553757	0.27739	.	.	ENSG00000196266	ENST00000332217	T	0.00540	6.7	5.08	0.79	0.18613	.	.	.	.	.	T	0.00109	0.0003	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37033	-0.9723	9	0.62326	D	0.03	.	2.2502	0.04042	0.3113:0.4095:0.1766:0.1026	.	324	Q5JRS4	O10J3_HUMAN	T	324	ENSP00000331789:A324T	ENSP00000331789:A324T	A	-	1	0	OR10J3	157550104	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.088000	0.03379	0.053000	0.16036	0.655000	0.94253	GCG		0.393	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			15	65	0	0	0	0.000308642	0	15	65				
GPR52	9293	broad.mit.edu	37	1	174418031	174418031	+	Missense_Mutation	SNP	G	G	A	rs144653948		TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr1:174418031G>A	ENST00000367685.2	+	1	820	c.782G>A	c.(781-783)cGt>cAt	p.R261H	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	261					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						AGCCCTGACCGTCGCTACGCC	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		19470	0.0		0.001	False		,,,				2504	0.0				Ovarian(92;924 1390 1930 16467 40583)	Ovarian(92;924 1390 1930 16467 40583)	uc001gka.1		NA																	0				skin(1)	1						c.(781-783)CGT>CAT		G protein-coupled receptor 52		G	HIS/ARG,	0,4406		0,0,2203	123.0	122.0	122.0		782,	5.2	1.0	1	dbSNP_134	122	2,8598	2.2+/-6.3	0,2,4298	yes	missense,intron	GPR52,RABGAP1L	NM_005684.4,NM_014857.4	29,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,	261/362,	174418031	2,13004	2203	4300	6503	SO:0001583	missense	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174418031G>A	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.782G>A	1.37:g.174418031G>A	ENSP00000356658:p.Arg261His					RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	p.R261H	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN			1	820	+			261			Cytoplasmic (Potential).		O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	c.782G>A	CCDS30941.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.75	3.467000	0.63625	0.0	2.33E-4	ENSG00000203737	ENST00000367685	T	0.73681	-0.77	6.16	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.66819	0.2828	N	0.21583	0.68	0.35640	D	0.810903	P	0.52061	0.95	P	0.50537	0.643	T	0.64411	-0.6414	10	0.07644	T	0.81	-13.6603	15.8588	0.79008	0.0653:0.0:0.9347:0.0	.	261	Q9Y2T5	GPR52_HUMAN	H	261	ENSP00000356658:R261H	ENSP00000356658:R261H	R	+	2	0	GPR52	172684654	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	6.390000	0.73204	2.937000	0.99478	0.650000	0.86243	CGT		0.458	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		30	74	0	0	0	0.001512	0	30	74				
PAPPA2	60676	broad.mit.edu	37	1	176668708	176668708	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr1:176668708C>A	ENST00000367662.3	+	8	4383	c.3219C>A	c.(3217-3219)caC>caA	p.H1073Q		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1073					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACATTCTCACAGGAAGTTCA	0.542																																							uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(3217-3219)CAC>CAA		pappalysin 2 isoform 1							135.0	133.0	133.0					1																	176668708		1987	4158	6145	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668708C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3219C>A	1.37:g.176668708C>A	ENSP00000356634:p.His1073Gln					PAPPA2_uc009www.2_RNA	p.H1073Q	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			8	4383	+			1073					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.3219C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	1.090	-0.664413	0.03428	.	.	ENSG00000116183	ENST00000367662	T	0.01538	4.79	5.23	2.07	0.26955	Fibronectin, type III (2);	0.748493	0.14012	N	0.347381	T	0.01661	0.0053	L	0.41710	1.295	0.09310	N	0.999999	B	0.14012	0.009	B	0.12156	0.007	T	0.46569	-0.9182	10	0.32370	T	0.25	-1.9434	2.559	0.04767	0.2381:0.4786:0.123:0.1603	.	1073	Q9BXP8	PAPP2_HUMAN	Q	1073	ENSP00000356634:H1073Q	ENSP00000356634:H1073Q	H	+	3	2	PAPPA2	174935331	0.005000	0.15991	0.744000	0.31058	0.208000	0.24298	-0.008000	0.12788	0.748000	0.32831	-0.175000	0.13238	CAC		0.542	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			14	193	1	0	2.31682e-05	0.000308642	0.000129356	14	193				
CRB1	23418	broad.mit.edu	37	1	197316538	197316538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr1:197316538G>A	ENST00000367400.3	+	4	1052	c.917G>A	c.(916-918)tGg>tAg	p.W306*	CRB1_ENST00000543483.1_Nonsense_Mutation_p.W5*|CRB1_ENST00000538660.1_Nonsense_Mutation_p.W306*|CRB1_ENST00000535699.1_Nonsense_Mutation_p.W237*|CRB1_ENST00000367399.2_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	306	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCTCTTTGTTGGTCAAAACCT	0.423																																							uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(916-918)TGG>TAG		crumbs homolog 1 precursor							204.0	169.0	181.0					1																	197316538		2203	4300	6503	SO:0001587	stop_gained	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197316538G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.917G>A	1.37:g.197316538G>A	ENSP00000356370:p.Trp306*					CRB1_uc010poz.1_Nonsense_Mutation_p.W237*|CRB1_uc001gty.1_Nonsense_Mutation_p.W306*|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Nonsense_Mutation_p.W306*|CRB1_uc010ppc.1_RNA	p.W306*	NM_201253	NP_957705	P82279	CRUM1_HUMAN			4	1052	+			306			Extracellular (Potential).|EGF-like 8.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Nonsense_Mutation	SNP	ENST00000367400.3	37	c.917G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	37	6.184474	0.97357	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000543483	.	.	.	5.22	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	9.0859	0.36581	0.0789:0.1484:0.7728:0.0	.	.	.	.	X	237;306;306;5	.	ENSP00000356370:W306X	W	+	2	0	CRB1	195583161	0.989000	0.36119	1.000000	0.80357	0.996000	0.88848	1.665000	0.37449	2.421000	0.82119	0.585000	0.79938	TGG		0.423	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		23	61	0	0	0	0.000375601	0	23	61				
ATP2B4	493	broad.mit.edu	37	1	203668679	203668679	+	Silent	SNP	C	C	T	rs539658179	byFrequency	TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr1:203668679C>T	ENST00000357681.5	+	4	1606	c.483C>T	c.(481-483)atC>atT	p.I161I	ATP2B4_ENST00000367218.3_Silent_p.I161I|ATP2B4_ENST00000391954.2_Silent_p.I161I|ATP2B4_ENST00000341360.2_Silent_p.I161I|ATP2B4_ENST00000367219.3_Silent_p.I161I	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	161					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGTGATCATCGTGGTGTTAG	0.502													C|||	8	0.00159744	0.0	0.0	5008	,	,		20024	0.0		0.0	False		,,,				2504	0.0082						uc001gzw.2		NA																	0				ovary(2)|skin(1)	3						c.(481-483)ATC>ATT		plasma membrane calcium ATPase 4 isoform 4b							159.0	155.0	156.0					1																	203668679		2203	4300	6503	SO:0001819	synonymous_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203668679C>T	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.483C>T	1.37:g.203668679C>T						ATP2B4_uc001gzv.2_Silent_p.I161I|ATP2B4_uc009xaq.2_Silent_p.I161I	p.I161I	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		4	1367	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		161			Helical; (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	c.483C>T	CCDS1440.1																																																																																				0.502	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		11	193	0	0	0	0.00136819	0	11	193				
GBF1	8729	broad.mit.edu	37	10	104112253	104112253	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr10:104112253A>G	ENST00000369983.3	+	7	822	c.562A>G	c.(562-564)Atg>Gtg	p.M188V		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	188					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TCTCGTAGACATGGTGCAGCT	0.507											OREG0020477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001kux.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(562-564)ATG>GTG		golgi-specific brefeldin A resistant guanine							114.0	109.0	111.0					10																	104112253		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104112253A>G	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.562A>G	10.37:g.104112253A>G	ENSP00000359000:p.Met188Val		OREG0020477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1379	GBF1_uc001kuw.2_Missense_Mutation_p.M188V|GBF1_uc001kuy.1_Missense_Mutation_p.M188V|GBF1_uc001kuz.1_Missense_Mutation_p.M188V	p.M188V	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	7	802	+		Colorectal(252;0.0236)	188					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.562A>G	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.640808	0.67244	.	.	ENSG00000107862	ENST00000369983	T	0.65178	-0.14	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	L	0.46819	1.47	0.80722	D	1	P;B;P;P	0.39352	0.584;0.434;0.477;0.669	B;B;B;B	0.40940	0.178;0.178;0.344;0.175	T	0.62220	-0.6900	10	0.48119	T	0.1	-19.7769	16.1368	0.81492	1.0:0.0:0.0:0.0	.	188;188;188;188	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	V	188	ENSP00000359000:M188V	ENSP00000359000:M188V	M	+	1	0	GBF1	104102243	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.213000	0.71641	0.533000	0.62120	ATG		0.507	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			12	56	0	0	0	0.00185496	0	12	56				
TACC2	10579	broad.mit.edu	37	10	123845072	123845072	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr10:123845072A>T	ENST00000369005.1	+	4	3397	c.3057A>T	c.(3055-3057)gaA>gaT	p.E1019D	TACC2_ENST00000334433.3_Missense_Mutation_p.E1019D|TACC2_ENST00000453444.2_Missense_Mutation_p.E1019D|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.E1019D|TACC2_ENST00000515273.1_Missense_Mutation_p.E1019D|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1019					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAGCTTCTGAAGCAGCTGATG	0.557																																							uc001lfv.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3055-3057)GAA>GAT		transforming, acidic coiled-coil containing							32.0	34.0	33.0					10																	123845072		2203	4299	6502	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123845072A>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3057A>T	10.37:g.123845072A>T	ENSP00000358001:p.Glu1019Asp					TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.E1019D|TACC2_uc010qtv.1_Missense_Mutation_p.E1019D	p.E1019D	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	3417	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1019					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.3057A>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714625	0.48622	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03920	3.82;3.76;3.78;3.82;3.76	5.59	-1.32	0.09201	.	0.419009	0.17763	N	0.162823	T	0.03178	0.0093	L	0.32530	0.975	0.09310	N	1	B;B;B	0.16166	0.016;0.016;0.006	B;B;B	0.12156	0.007;0.004;0.004	T	0.38045	-0.9679	10	0.72032	D	0.01	-3.2456	1.8662	0.03198	0.4846:0.1466:0.2499:0.1189	.	1019;1019;1019	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	D	1019;1019;1019;1019;1019;1009	ENSP00000358001:E1019D;ENSP00000424467:E1019D;ENSP00000427618:E1019D;ENSP00000334280:E1019D;ENSP00000395048:E1019D	ENSP00000334280:E1019D	E	+	3	2	TACC2	123835062	0.079000	0.21365	0.002000	0.10522	0.092000	0.18411	0.408000	0.21065	-0.123000	0.11745	0.448000	0.29417	GAA		0.557	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			6	40	0	0	0	0.00116845	0	6	40				
OR52N1	79473	broad.mit.edu	37	11	5809217	5809217	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr11:5809217A>T	ENST00000317078.1	-	1	829	c.830T>A	c.(829-831)aTt>aAt	p.I277N	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGCCATAATAATATGTATGTG	0.438																																							uc010qzo.1		NA																	0				skin(1)	1						c.(829-831)ATT>AAT		olfactory receptor, family 52, subfamily N,							143.0	134.0	137.0					11																	5809217		2124	4090	6214	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809217A>T	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.830T>A	11.37:g.5809217A>T	ENSP00000322823:p.Ile277Asn					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.I277N	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	830	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	277			Helical; Name=7; (Potential).		Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.830T>A	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079268	0.55753	.	.	ENSG00000181001	ENST00000317078	T	0.00158	8.65	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	D	0.000626	T	0.00666	0.0022	H	0.94734	3.575	0.31218	N	0.697824	D	0.62365	0.991	D	0.74348	0.983	T	0.02257	-1.1187	10	0.87932	D	0	.	13.4385	0.61099	1.0:0.0:0.0:0.0	.	277	Q8NH53	O52N1_HUMAN	N	277	ENSP00000322823:I277N	ENSP00000322823:I277N	I	-	2	0	OR52N1	5765793	0.000000	0.05858	0.998000	0.56505	0.771000	0.43674	0.218000	0.17622	2.092000	0.63282	0.496000	0.49642	ATT		0.438	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		12	52	0	0	0	0.00185496	0	12	52				
ARAP1	116985	broad.mit.edu	37	11	72408407	72408407	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr11:72408407C>T	ENST00000393609.3	-	21	3116	c.2914G>A	c.(2914-2916)Gtg>Atg	p.V972M	ARAP1_ENST00000359373.5_Missense_Mutation_p.V972M|ARAP1_ENST00000393605.3_Missense_Mutation_p.V732M|ARAP1_ENST00000429686.1_Missense_Mutation_p.V666M|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Missense_Mutation_p.V727M|ARAP1_ENST00000334211.8_Missense_Mutation_p.V727M|ARAP1_ENST00000455638.2_Missense_Mutation_p.V972M	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	972	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TACACGATCACCGGGATATCC	0.682																																					Ovarian(102;1198 1520 13195 17913 37529)	Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2		NA																	0				skin(1)	1						c.(2914-2916)GTG>ATG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							20.0	23.0	22.0					11																	72408407		2200	4291	6491	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72408407C>T	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2914G>A	11.37:g.72408407C>T	ENSP00000377233:p.Val972Met					ARAP1_uc001osv.2_Missense_Mutation_p.V972M|ARAP1_uc001osr.2_Missense_Mutation_p.V732M|ARAP1_uc001oss.2_Missense_Mutation_p.V727M|ARAP1_uc009yth.2_Missense_Mutation_p.V666M|ARAP1_uc010rre.1_Missense_Mutation_p.V727M	p.V972M	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			21	3103	-			972			Rho-GAP.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.2914G>A	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813999	0.50527	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971	T;T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.09	5.09	0.68999	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	N	0.26130	0.795	0.45118	D	0.998139	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.995;0.999;0.999;0.993;0.991	T	0.09400	-1.0676	10	0.87932	D	0	.	13.7099	0.62661	0.0:0.8443:0.1557:0.0	.	727;666;972;972;732	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	M	972;972;732;727;972;727;666;260	ENSP00000352332:V972M;ENSP00000390461:V972M;ENSP00000377230:V732M;ENSP00000335506:V727M;ENSP00000377233:V972M;ENSP00000392264:V727M;ENSP00000403127:V666M;ENSP00000411452:V260M	ENSP00000335506:V727M	V	-	1	0	ARAP1	72086055	0.850000	0.29656	0.933000	0.37362	0.008000	0.06430	1.594000	0.36697	2.366000	0.80165	0.460000	0.39030	GTG		0.682	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		4	14	0	0	0	0.000602214	0	4	14				
NUP107	57122	broad.mit.edu	37	12	69107517	69107517	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr12:69107517A>G	ENST00000229179.4	+	11	1230	c.898A>G	c.(898-900)Act>Gct	p.T300A	NUP107_ENST00000378905.2_Missense_Mutation_p.T149A|NUP107_ENST00000539906.1_Missense_Mutation_p.T271A	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	300					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGGGAAAATACTCTGCATAC	0.328																																							uc001suf.2		NA																	0				skin(1)	1						c.(898-900)ACT>GCT		nucleoporin 107kDa							80.0	82.0	81.0					12																	69107517		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69107517A>G	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.898A>G	12.37:g.69107517A>G	ENSP00000229179:p.Thr300Ala					NUP107_uc001sug.2_Missense_Mutation_p.T147A|NUP107_uc010stj.1_Missense_Mutation_p.T271A	p.T300A	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		11	1013	+	Breast(13;6.25e-06)		300					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.898A>G	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.825623	0.71143	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.81133	0.4759	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.84259	0.0482	8	.	.	.	-17.1062	14.4857	0.67616	1.0:0.0:0.0:0.0	.	271;149;300	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	A	300;149;271	.	.	T	+	1	0	NUP107	67393784	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	6.384000	0.73177	1.970000	0.57323	0.374000	0.22700	ACT		0.328	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		14	45	0	0	0	0.000219431	0	14	45				
DHX37	57647	broad.mit.edu	37	12	125434579	125434579	+	Silent	SNP	C	C	G			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr12:125434579C>G	ENST00000308736.2	-	25	3341	c.3243G>C	c.(3241-3243)cgG>cgC	p.R1081R	DHX37_ENST00000544745.1_Silent_p.R868R	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1081			R -> Q (in dbSNP:rs4447263). {ECO:0000269|PubMed:15489334}.				ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCAGACAGCTCCGGTATGAGG	0.662																																							uc001ugy.2		NA																	0				skin(1)	1						c.(3241-3243)CGG>CGC		DEAH (Asp-Glu-Ala-His) box polypeptide 37							38.0	34.0	35.0					12																	125434579		2203	4300	6503	SO:0001819	synonymous_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125434579C>G	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3243G>C	12.37:g.125434579C>G						DHX37_uc001ugz.1_Silent_p.R168R	p.R1081R	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	25	3342	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1081					Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	c.3243G>C	CCDS9261.1																																																																																				0.662	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		8	15	0	0	0	0.000157383	0	8	15				
GPR180	160897	broad.mit.edu	37	13	95271525	95271525	+	Silent	SNP	G	G	C			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr13:95271525G>C	ENST00000376958.4	+	4	652	c.627G>C	c.(625-627)ctG>ctC	p.L209L		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	209					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TAAAGGTTCTGACAACTGCAT	0.388																																							uc001vly.2		NA																	0				breast(1)	1						c.(625-627)CTG>CTC		G protein-coupled receptor 180 precursor							175.0	168.0	170.0					13																	95271525		2203	4300	6503	SO:0001819	synonymous_variant	160897					integral to membrane		g.chr13:95271525G>C	AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.627G>C	13.37:g.95271525G>C						GPR180_uc001vlz.2_Silent_p.L108L|GPR180_uc010afi.2_Intron	p.L209L	NM_180989	NP_851320	Q86V85	GP180_HUMAN			4	705	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		209			Helical; (Potential).		A8K1D5	Silent	SNP	ENST00000376958.4	37	c.627G>C	CCDS9472.1																																																																																				0.388	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989		3	75	0	0	0	6.4e-05	0	3	75				
FOXG1	2290	broad.mit.edu	37	14	29237174	29237174	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr14:29237174G>A	ENST00000313071.4	+	1	888	c.689G>A	c.(688-690)cGc>cAc	p.R230H	RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.R230H|RP11-966I7.1_ENST00000546560.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	230					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R230H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AACTCCATCCGCCACAATCTG	0.592																																							uc001wqe.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|lung(2)	4						c.(688-690)CGC>CAC		forkhead box G1							47.0	47.0	47.0					14																	29237174		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237174G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.689G>A	14.37:g.29237174G>A	ENSP00000339004:p.Arg230His						p.R230H	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	888	+			230			Fork-head.		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.689G>A	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969282	0.92855	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.98075	-4.7;-4.7	4.01	4.01	0.46588	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.136393	0.49305	U	0.000159	D	0.99155	0.9708	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99047	1.0826	10	0.87932	D	0	.	15.7637	0.78106	0.0:0.0:1.0:0.0	.	230	P55316	FOXG1_HUMAN	H	230	ENSP00000371975:R230H;ENSP00000339004:R230H	ENSP00000339004:R230H	R	+	2	0	FOXG1	28306925	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.736000	0.98828	1.773000	0.52216	0.306000	0.20318	CGC		0.592	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			16	30	0	0	0	0.000566183	0	16	30				
PLEKHG3	26030	broad.mit.edu	37	14	65208417	65208417	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr14:65208417G>A	ENST00000394691.1	+	16	2329	c.2182G>A	c.(2182-2184)Gaa>Aaa	p.E728K	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.E233K|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.E261K|PLEKHG3_ENST00000492928.1_3'UTR|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.E672K			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	728				YYENAEHHDAGFSV -> WWPHCTPASCSSPT (in Ref. 2; AAH04298). {ECO:0000305}.			Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGAAAATGCAGAACACCATGA	0.527																																							uc001xho.1		NA																	0				skin(1)	1						c.(2182-2184)GAA>AAA		pleckstrin homology domain containing, family G,							69.0	77.0	74.0					14																	65208417		2203	4299	6502	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65208417G>A	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2182G>A	14.37:g.65208417G>A	ENSP00000378183:p.Glu728Lys					PLEKHG3_uc001xhn.1_Missense_Mutation_p.E672K|PLEKHG3_uc001xhp.2_Missense_Mutation_p.E849K|PLEKHG3_uc010aqh.1_Missense_Mutation_p.E270K|PLEKHG3_uc001xhq.1_Missense_Mutation_p.E233K	p.E728K	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	16	2451	+			728	YYENAEHHDAGFSV -> WWPHCTPASCSSPT (in Ref. 2; AAH04298).				A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.2182G>A		.	.	.	.	.	.	.	.	.	.	G	22.5	4.303022	0.81136	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;D;T;T	0.83992	-1.31;-1.79;-0.25;-0.17	5.97	5.97	0.96955	.	0.072908	0.56097	D	0.000033	D	0.91307	0.7259	M	0.75264	2.295	0.49915	D	0.999839	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	D;D;D;D	0.83275	0.994;0.994;0.99;0.996	D	0.91167	0.4965	10	0.66056	D	0.02	.	19.1994	0.93704	0.0:0.0:1.0:0.0	.	261;233;728;672	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	K	672;728;261;233	ENSP00000247226:E672K;ENSP00000378183:E728K;ENSP00000450945:E261K;ENSP00000450973:E233K	ENSP00000247226:E672K	E	+	1	0	PLEKHG3	64278170	1.000000	0.71417	0.968000	0.41197	0.358000	0.29455	9.074000	0.93998	2.837000	0.97791	0.655000	0.94253	GAA		0.527	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		36	92	0	0	0	0.00111076	0	36	92				
RPAP1	26015	broad.mit.edu	37	15	41813100	41813100	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr15:41813100G>A	ENST00000304330.4	-	22	3400	c.3284C>T	c.(3283-3285)cCg>cTg	p.P1095L	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1095	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGCAGCAGCGGCTCCGTAGG	0.662																																							uc001zod.2		NA																	0				large_intestine(1)	1						c.(3283-3285)CCG>CTG		RNA polymerase II associated protein 1							54.0	46.0	49.0					15																	41813100		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41813100G>A	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3284C>T	15.37:g.41813100G>A	ENSP00000306123:p.Pro1095Leu					RPAP1_uc001zoc.2_Missense_Mutation_p.P114L	p.P1095L	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	22	3408	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1095			Leu-rich.		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.3284C>T	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885840	0.72410	.	.	ENSG00000103932	ENST00000304330	D	0.85484	-1.99	5.22	5.22	0.72569	.	0.053630	0.85682	D	0.000000	D	0.91560	0.7334	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92044	0.5643	10	0.87932	D	0	-15.9883	18.9581	0.92668	0.0:0.0:1.0:0.0	.	1095	Q9BWH6	RPAP1_HUMAN	L	1095	ENSP00000306123:P1095L	ENSP00000306123:P1095L	P	-	2	0	RPAP1	39600392	1.000000	0.71417	0.966000	0.40874	0.261000	0.26267	6.081000	0.71309	2.712000	0.92718	0.563000	0.77884	CCG		0.662	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		7	54	0	0	0	8.12818e-05	0	7	54				
SHCBP1	79801	broad.mit.edu	37	16	46615942	46615942	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr16:46615942G>C	ENST00000303383.3	-	13	1984	c.1718C>G	c.(1717-1719)aCa>aGa	p.T573R		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	573					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTCTCCACTTGTCTGAATTTT	0.373																																							uc002eec.3		NA																	0				ovary(1)|breast(1)	2						c.(1717-1719)ACA>AGA		SHC SH2-domain binding protein 1							99.0	101.0	100.0					16																	46615942		2203	4300	6503	SO:0001583	missense	79801							g.chr16:46615942G>C	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1718C>G	16.37:g.46615942G>C	ENSP00000306473:p.Thr573Arg						p.T573R	NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN			13	1758	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	573					Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP	ENST00000303383.3	37	c.1718C>G	CCDS10720.1	.	.	.	.	.	.	.	.	.	.	G	4.668	0.124158	0.08931	.	.	ENSG00000171241	ENST00000303383	T	0.22743	1.94	3.96	3.96	0.45880	.	0.325266	0.32533	N	0.005965	T	0.13841	0.0335	N	0.24115	0.695	0.09310	N	1	B	0.30763	0.294	B	0.24974	0.057	T	0.20042	-1.0287	10	0.59425	D	0.04	-6.7812	11.8566	0.52441	0.0895:0.0:0.9105:0.0	.	573	Q8NEM2	SHCBP_HUMAN	R	573	ENSP00000306473:T573R	ENSP00000306473:T573R	T	-	2	0	SHCBP1	45173443	0.436000	0.25586	0.396000	0.26296	0.227000	0.25037	2.608000	0.46308	2.018000	0.59344	0.563000	0.77884	ACA		0.373	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		17	88	0	0	0	0.00121646	0	17	88				
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	rs587782529		TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000413465.2_Intron	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	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)	ATCTCGAAGCGCTCACGCCCA	0.522		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)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		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		31	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	p.R337C(12)|p.0?(7)|p.R337L(5)|p.R337H(2)|p.?(1)|p.I332fs*5(1)	central_nervous_system(6)|large_intestine(5)|ovary(4)|bone(4)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|liver(1)|peritoneum(1)|lung(1)|kidney(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM981929	TP53	M		c.(1009-1011)CGC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							56.0	44.0	48.0					17																	7574018		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574018G>A	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.1009C>T	17.37:g.7574018G>A	ENSP00000269305:p.Arg337Cys	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_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205C|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337C	p.R337C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1203	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	337		R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		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.1009C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159246	0.21454	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95205	-3.64;-3.64	5.43	3.38	0.38709	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.82323	2.585	0.48341	D	0.999635	P	0.39940	0.696	B	0.40940	0.344	D	0.93083	0.6493	10	0.87932	D	0	-7.3279	12.447	0.55657	0.0:0.0:0.6947:0.3053	.	337	P04637	P53_HUMAN	C	337;337;326	ENSP00000269305:R337C;ENSP00000391478:R337C	ENSP00000269305:R337C	R	-	1	0	TP53	7514743	0.558000	0.26554	0.006000	0.13384	0.274000	0.26718	1.012000	0.29924	0.615000	0.30124	0.561000	0.74099	CGC		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	29	0	0	0	0.001512	0	26	29				
MYO18A	399687	broad.mit.edu	37	17	27493549	27493549	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr17:27493549T>C	ENST00000527372.1	-	2	590	c.410A>G	c.(409-411)aAg>aGg	p.K137R	MYO18A_ENST00000533112.1_Missense_Mutation_p.K137R|MYO18A_ENST00000531253.1_Missense_Mutation_p.K137R|MYO18A_ENST00000354329.4_Missense_Mutation_p.K137R	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	137	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGAAAAGCGCTTGACAATCAT	0.622																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NA																	0					0						c.(409-411)AAG>AGG		myosin 18A isoform a							27.0	32.0	30.0					17																	27493549		2117	4223	6340	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27493549T>C	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.410A>G	17.37:g.27493549T>C	ENSP00000437073:p.Lys137Arg					MYO18A_uc010csa.1_Missense_Mutation_p.K137R|MYO18A_uc002hdu.1_Missense_Mutation_p.K137R	p.K137R	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		2	568	-			137					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.410A>G	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.631742	0.46944	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.88741	-2.31;-2.42;-2.3;-2.31	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	L	0.27053	0.805	0.39478	D	0.967842	P;P;P	0.38922	0.557;0.557;0.651	B;B;B	0.33620	0.167;0.167;0.115	T	0.82168	-0.0591	10	0.33141	T	0.24	.	15.0705	0.72034	0.0:0.0:0.0:1.0	.	137;137;137	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	R	137	ENSP00000346291:K137R;ENSP00000435932:K137R;ENSP00000434228:K137R;ENSP00000437073:K137R	ENSP00000346291:K137R	K	-	2	0	MYO18A	24517675	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.666000	0.61554	2.149000	0.67028	0.383000	0.25322	AAG		0.622	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		8	64	0	0	0	0.000274275	0	8	64				
CPD	1362	broad.mit.edu	37	17	28782439	28782439	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr17:28782439T>G	ENST00000225719.4	+	15	3364	c.3288T>G	c.(3286-3288)gaT>gaG	p.D1096E	CPD_ENST00000584051.1_3'UTR|CPD_ENST00000543464.2_Missense_Mutation_p.D849E	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1096	Carboxypeptidase-like 3.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TTGCCTTAGATGGTGGTTCCA	0.363																																							uc002hfb.1		NA																	0				liver(1)|skin(1)	2						c.(3286-3288)GAT>GAG		carboxypeptidase D precursor							103.0	98.0	100.0					17																	28782439		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28782439T>G	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.3288T>G	17.37:g.28782439T>G	ENSP00000225719:p.Asp1096Glu					CPD_uc010wbo.1_Missense_Mutation_p.D849E|CPD_uc010wbp.1_Intron	p.D1096E	NM_001304	NP_001295	O75976	CBPD_HUMAN			15	3303	+			1096			Extracellular (Potential).|Carboxypeptidase-like 3.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.3288T>G	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.516091	0.44763	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.03242	4.0;4.0	5.48	4.19	0.49359	Peptidase M14, carboxypeptidase A (2);	0.289659	0.34362	N	0.004022	T	0.11707	0.0285	L	0.48362	1.52	0.53688	D	0.999974	D;D	0.89917	0.999;1.0	D;D	0.91635	0.962;0.999	T	0.00878	-1.1530	10	0.72032	D	0.01	.	11.1767	0.48603	0.0:0.0845:0.0:0.9155	.	849;1096	F5GZH6;O75976	.;CBPD_HUMAN	E	1096;849	ENSP00000225719:D1096E;ENSP00000444443:D849E	ENSP00000225719:D1096E	D	+	3	2	CPD	25806565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.888000	0.48594	2.095000	0.63458	0.528000	0.53228	GAT		0.363	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		16	227	0	0	0	0.000308642	0	16	227				
CDH7	1005	broad.mit.edu	37	18	63526954	63526954	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr18:63526954A>G	ENST00000397968.2	+	10	1931	c.1505A>G	c.(1504-1506)aAa>aGa	p.K502R	CDH7_ENST00000536984.2_Missense_Mutation_p.K502R|CDH7_ENST00000323011.3_Missense_Mutation_p.K502R	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GTTATCCAGAAAATCAGTGCT	0.363																																							uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1504-1506)AAA>AGA		cadherin 7, type 2 preproprotein							89.0	76.0	80.0					18																	63526954		2202	4299	6501	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63526954A>G	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1505A>G	18.37:g.63526954A>G	ENSP00000381058:p.Lys502Arg					CDH7_uc002lka.2_Missense_Mutation_p.K502R|CDH7_uc002lkb.2_Missense_Mutation_p.K502R	p.K502R	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			10	1830	+		Esophageal squamous(42;0.129)	502			Extracellular (Potential).|Cadherin 5.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1505A>G	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.952120	0.34471	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.49139	0.79;0.79;0.79	5.71	5.71	0.89125	Cadherin (3);Cadherin-like (1);	0.188381	0.51477	D	0.000084	T	0.29028	0.0721	N	0.05441	-0.05	0.34856	D	0.742125	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.001	T	0.34750	-0.9816	10	0.66056	D	0.02	.	11.0747	0.48025	0.9278:0.0:0.0722:0.0	.	502;502	F5H5X9;Q9ULB5	.;CADH7_HUMAN	R	502	ENSP00000319166:K502R;ENSP00000443030:K502R;ENSP00000381058:K502R	ENSP00000319166:K502R	K	+	2	0	CDH7	61677934	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	4.463000	0.60128	2.178000	0.69098	0.477000	0.44152	AAA		0.363	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		6	23	0	0	0	0.00116845	0	6	23				
CYP4F11	57834	broad.mit.edu	37	19	16035624	16035624	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr19:16035624C>A	ENST00000402119.4	-	5	1020	c.594G>T	c.(592-594)atG>atT	p.M198I	CYP4F11_ENST00000248041.8_Missense_Mutation_p.M198I|CYP4F11_ENST00000326742.8_Missense_Mutation_p.M198I|CYP4F11_ENST00000591841.1_Intron	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGTCCAAGGTCATGAGGCTGA	0.537																																							uc002nbu.2		NA																	0				ovary(1)	1						c.(592-594)ATG>ATT		cytochrome P450 family 4 subfamily F polypeptide							103.0	89.0	94.0					19																	16035624		2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16035624C>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.594G>T	19.37:g.16035624C>A	ENSP00000384588:p.Met198Ile					CYP4F11_uc010eab.1_Missense_Mutation_p.M198I|CYP4F11_uc002nbt.2_Missense_Mutation_p.M198I	p.M198I	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN			6	630	-			198						Missense_Mutation	SNP	ENST00000402119.4	37	c.594G>T	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	c	16.46	3.129561	0.56721	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.68181	-0.31;-0.31;-0.26	2.84	2.84	0.33178	.	0.059571	0.64402	U	0.000006	T	0.77961	0.4209	M	0.83312	2.635	0.50039	D	0.999846	D;P	0.61080	0.989;0.854	P;P	0.58391	0.838;0.619	T	0.81895	-0.0723	10	0.87932	D	0	.	11.4878	0.50363	0.0:1.0:0.0:0.0	.	198;198	F8W978;Q9HBI6	.;CP4FB_HUMAN	I	198	ENSP00000384588:M198I;ENSP00000248041:M198I;ENSP00000319859:M198I	ENSP00000248041:M198I	M	-	3	0	CYP4F11	15896624	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	5.093000	0.64517	1.585000	0.49928	0.298000	0.19748	ATG		0.537	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		21	81	1	0	9.95505e-16	0.000295444	6.06353e-15	21	81				
IL1RL1	9173	broad.mit.edu	37	2	102955462	102955462	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr2:102955462C>A	ENST00000233954.1	+	3	498	c.227C>A	c.(226-228)cCa>cAa	p.P76Q	IL1RL1_ENST00000409584.1_Missense_Mutation_p.P76Q|IL1RL1_ENST00000311734.2_Missense_Mutation_p.P76Q|IL1RL1_ENST00000393393.3_Missense_Mutation_p.P76Q|IL1RL1_ENST00000404917.2_5'UTR|IL1RL1_ENST00000473175.1_3'UTR	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	76	Ig-like C2-type 1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AAGTTTCTACCAGCTGCAGTT	0.433																																							uc002tbu.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(226-228)CCA>CAA		interleukin 1 receptor-like 1 isoform 1							173.0	180.0	178.0					2																	102955462		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102955462C>A	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.227C>A	2.37:g.102955462C>A	ENSP00000233954:p.Pro76Gln					IL1RL1_uc010ywa.1_5'UTR|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.P76Q	p.P76Q	NM_016232	NP_057316	Q01638	ILRL1_HUMAN			3	498	+			76			Extracellular (Potential).|Ig-like C2-type 1.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.227C>A	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210480	0.79240	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000311734;ENST00000409584	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	6.03	6.03	0.97812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.334685	0.30920	N	0.008618	D	0.88916	0.6567	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89664	0.3879	10	0.87932	D	0	.	16.0569	0.80812	0.0:1.0:0.0:0.0	.	76;76	Q01638-2;Q01638	.;ILRL1_HUMAN	Q	76	ENSP00000233954:P76Q;ENSP00000377052:P76Q;ENSP00000310371:P76Q;ENSP00000386618:P76Q	ENSP00000233954:P76Q	P	+	2	0	IL1RL1	102321894	0.913000	0.31002	0.490000	0.27465	0.714000	0.41099	3.754000	0.55189	2.861000	0.98227	0.655000	0.94253	CCA		0.433	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		19	138	1	0	0.000229342	0.00188189	0.00122927	19	138				
ZEB2	9839	broad.mit.edu	37	2	145147072	145147072	+	Silent	SNP	C	C	T			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr2:145147072C>T	ENST00000558170.2	-	10	4775	c.3591G>A	c.(3589-3591)ggG>ggA	p.G1197G	ZEB2_ENST00000303660.4_Silent_p.G1197G|ZEB2_ENST00000539609.3_Silent_p.G1173G|ZEB2_ENST00000409487.3_Silent_p.G1197G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1197	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTTCCATTTTCCCATCCTCCG	0.388																																					Melanoma(33;1235 1264 5755 16332)	Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(3589-3591)GGG>GGA		zinc finger homeobox 1b							259.0	244.0	249.0					2																	145147072		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147072C>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3591G>A	2.37:g.145147072C>T						ZEB2_uc002tvv.2_Silent_p.G1191G|ZEB2_uc010zbm.1_Silent_p.G1168G|ZEB2_uc010fnp.2_Intron	p.G1197G	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	4071	-			1197			Glu-rich (acidic).		A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.3591G>A	CCDS2186.1																																																																																				0.388	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		57	236	0	0	0	0.000781405	0	57	236				
PPIG	9360	broad.mit.edu	37	2	170488419	170488419	+	Missense_Mutation	SNP	G	G	A	rs182401677		TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr2:170488419G>A	ENST00000260970.3	+	11	1125	c.905G>A	c.(904-906)aGa>aAa	p.R302K	PPIG_ENST00000448752.2_Missense_Mutation_p.R302K|PPIG_ENST00000409714.3_Missense_Mutation_p.R287K|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000462903.1_Missense_Mutation_p.R302K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	302					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	aggaaaaacagagagagagaa	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		18876	0.0		0.001	False		,,,				2504	0.0						uc002uez.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(904-906)AGA>AAA		peptidylprolyl isomerase G	L-Proline(DB00172)						42.0	39.0	40.0					2																	170488419		2203	4300	6503	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170488419G>A	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.905G>A	2.37:g.170488419G>A	ENSP00000260970:p.Arg302Lys					PPIG_uc010fpx.2_Missense_Mutation_p.R287K|PPIG_uc010fpy.2_Missense_Mutation_p.R295K|PPIG_uc002ufa.2_Missense_Mutation_p.R302K|PPIG_uc002ufb.2_Missense_Mutation_p.R302K|PPIG_uc002ufd.2_Missense_Mutation_p.R299K	p.R302K	NM_004792	NP_004783	Q13427	PPIG_HUMAN			11	1125	+			302					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.905G>A	CCDS2235.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.94	3.260003	0.59321	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752	T;T;T;T;T	0.27557	2.54;2.05;2.53;1.66;2.54	5.29	5.29	0.74685	.	0.488288	0.23549	N	0.046987	T	0.26882	0.0658	N	0.10874	0.06	0.50813	D	0.999897	D;D;B;P;D	0.56521	0.976;0.976;0.013;0.865;0.976	P;P;B;B;P	0.51615	0.675;0.579;0.01;0.379;0.579	T	0.06373	-1.0830	10	0.13853	T	0.58	-1.6201	18.5337	0.91001	0.0:0.0:1.0:0.0	.	295;287;287;302;302	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	K	302;302;295;287;302;302	ENSP00000260970:R302K;ENSP00000408683:R295K;ENSP00000386245:R287K;ENSP00000435987:R302K;ENSP00000407083:R302K	ENSP00000260970:R302K	R	+	2	0	PPIG	170196665	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.120000	0.71596	2.452000	0.82932	0.460000	0.39030	AGA		0.348	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			5	19	0	0	0	0.000602214	0	5	19				
TTN	7273	broad.mit.edu	37	2	179447908	179447908	+	Silent	SNP	A	A	C	rs55766906		TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr2:179447908A>C	ENST00000591111.1	-	263	60923	c.60699T>G	c.(60697-60699)acT>acG	p.T20233T	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.T12934T|TTN_ENST00000460472.2_Silent_p.T12809T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.T13001T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Silent_p.T21874T|TTN-AS1_ENST00000590932.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.T19306T			Q8WZ42	TITIN_HUMAN	titin	20233	Ig-like 111.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTTTCACAGTAAGCAAAG	0.398																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(57916-57918)ACT>ACG		titin isoform N2-A							57.0	55.0	56.0					2																	179447908		1881	4119	6000	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179447908A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60699T>G	2.37:g.179447908A>C						uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T13001T|TTN_uc010zfi.1_Silent_p.T12934T|TTN_uc010zfj.1_Silent_p.T12809T	p.T19306T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		262	58142	-			20233					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.57918T>G																																																																																					0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	21	0	0	0	0.000157383	0	6	21				
VPS16	64601	broad.mit.edu	37	20	2845910	2845910	+	Silent	SNP	T	T	G			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr20:2845910T>G	ENST00000380445.3	+	21	2193	c.2121T>G	c.(2119-2121)ggT>ggG	p.G707G	PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380443.3_Silent_p.G393G|VPS16_ENST00000380469.3_Silent_p.G563G	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	707					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TTCTTGGCGGTCACAACAAGC	0.617																																							uc002whe.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2119-2121)GGT>GGG		vacuolar protein sorting 16 isoform 1							74.0	63.0	67.0					20																	2845910		2203	4300	6503	SO:0001819	synonymous_variant	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2845910T>G	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2121T>G	20.37:g.2845910T>G						VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'UTR|VPS16_uc002whf.2_Silent_p.G563G|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Silent_p.G393G|VPS16_uc002whi.2_Silent_p.G191G	p.G707G	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			21	2169	+			707					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	ENST00000380445.3	37	c.2121T>G	CCDS13036.1																																																																																				0.617	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		17	43	0	0	0	0.000958276	0	17	43				
GGT5	2687	broad.mit.edu	37	22	24640618	24640618	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr22:24640618C>T	ENST00000327365.4	-	1	492	c.76G>A	c.(76-78)Gct>Act	p.A26T	GGT5_ENST00000398292.3_Missense_Mutation_p.A26T|GGT5_ENST00000263112.7_Missense_Mutation_p.A26T|GGT5_ENST00000418439.2_Missense_Mutation_p.A26T	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	26					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.A26P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AGGACCACAGCCAGCACAATG	0.677																																							uc002zzo.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(76-78)GCT>ACT		gamma-glutamyltransferase 5 isoform b							30.0	32.0	31.0					22																	24640618		2203	4300	6503	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24640618C>T	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.76G>A	22.37:g.24640618C>T	ENSP00000330080:p.Ala26Thr					GGT5_uc002zzp.3_Missense_Mutation_p.A26T|GGT5_uc002zzr.3_Missense_Mutation_p.A26T|GGT5_uc002zzq.3_Missense_Mutation_p.A26T|GGT5_uc011ajm.1_Missense_Mutation_p.A26T|GGT5_uc011ajn.1_RNA	p.A26T	NM_004121	NP_004112	P36269	GGT5_HUMAN			1	493	-			26			Helical; Signal-anchor for type II membrane protein; (Potential).		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.76G>A	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	.	7.803	0.714082	0.15306	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000398292;ENST00000418439;ENST00000424217	T;T;T;T;T	0.49432	3.57;3.53;3.57;3.4;0.78	2.85	0.55	0.17219	.	1.172160	0.06421	U	0.722315	T	0.47875	0.1469	N	0.22421	0.69	0.09310	N	1	B;D;D;D;D	0.67145	0.01;0.996;0.993;0.993;0.993	B;D;D;D;D	0.73708	0.004;0.981;0.956;0.956;0.956	T	0.39941	-0.9589	10	0.26408	T	0.33	-31.0376	3.3393	0.07113	0.0:0.5518:0.2742:0.174	.	26;26;26;26;26	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	T	26	ENSP00000330080:A26T;ENSP00000263112:A26T;ENSP00000381340:A26T;ENSP00000392146:A26T;ENSP00000412964:A26T	ENSP00000263112:A26T	A	-	1	0	GGT5	22970618	0.001000	0.12720	0.000000	0.03702	0.022000	0.10575	0.045000	0.14013	0.198000	0.20407	0.505000	0.49811	GCT		0.677	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		15	35	0	0	0	0.000422831	0	15	35				
CHEK2	11200	broad.mit.edu	37	22	29091782	29091782	+	Missense_Mutation	SNP	G	G	A	rs373073383		TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr22:29091782G>A	ENST00000405598.1	-	12	1366	c.1175C>T	c.(1174-1176)gCg>gTg	p.A392V	CHEK2_ENST00000382580.2_Missense_Mutation_p.A435V|CHEK2_ENST00000544772.1_Missense_Mutation_p.A171V|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.A392V|CHEK2_ENST00000402731.1_Missense_Mutation_p.A363V|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.A301V|CHEK2_ENST00000404276.1_Missense_Mutation_p.A392V|CHEK2_ENST00000403642.1_Missense_Mutation_p.A301V|CHEK2_ENST00000348295.3_Missense_Mutation_p.A363V			O96017	CHK2_HUMAN	checkpoint kinase 2	392	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AACTTCAGGCGCCAAGTAGGT	0.428			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															uc003adu.1		NA	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			0		p.A392A(6)		central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1174-1176)GCG>GTG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	56.0	56.0	56.0		1304,1175,1088	5.7	1.0	22		56	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CHEK2	NM_001005735.1,NM_007194.3,NM_145862.2	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	435/587,392/544,363/515	29091782	1,13005	2203	4300	6503	SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091782G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1175C>T	22.37:g.29091782G>A	ENSP00000386087:p.Ala392Val					CHEK2_uc003ads.1_Missense_Mutation_p.A171V|CHEK2_uc010gvh.1_Missense_Mutation_p.A301V|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.A435V|CHEK2_uc003adv.1_Missense_Mutation_p.A363V|CHEK2_uc003adw.1_Missense_Mutation_p.A392V|CHEK2_uc003adx.1_Missense_Mutation_p.A171V|CHEK2_uc003ady.1_Missense_Mutation_p.A392V|CHEK2_uc003adz.1_Missense_Mutation_p.A196V	p.A392V	NM_007194	NP_009125	O96017	CHK2_HUMAN			11	1247	-			392			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.1175C>T	CCDS13843.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	34|34|34	5.292848|5.292848|5.292848	0.95546|0.95546|0.95546	0.0|0.0|0.0	1.16E-4|1.16E-4|1.16E-4	ENSG00000183765|ENSG00000183765|ENSG00000183765	ENST00000382563|ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731|ENST00000434810	.|T;T;T;T;T;T;T;T;T|.	.|0.69926|.	.|-0.16;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.16|.	5.73|5.73|5.73	5.73|5.73|5.73	0.89815|0.89815|0.89815	.|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|.	.|D|D	.|0.90400|0.90400	.|0.6995|0.6995	H|H|H	0.97587|0.97587|0.97587	4.035|4.035|4.035	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D;D|.	.|0.89917|.	.|1.0;1.0;1.0;1.0;1.0;1.0|.	.|D;D;D;D;D;D|.	.|0.79784|.	.|0.945;0.993;0.94;0.972;0.989;0.981|.	.|D|D	.|0.93302|0.93302	.|0.6677|0.6677	.|10|5	.|0.87932|.	.|D|.	.|0|.	.|-10.8448|-10.8448	18.8855|18.8855|18.8855	0.92376|0.92376|0.92376	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|301;171;392;363;392;435|.	.|O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9|.	.|.;.;.;.;CHK2_HUMAN;.|.	.|V|C	-1|363;301;171;392;392;392;435;301;363|136	.|ENSP00000329012:A363V;ENSP00000372021:A301V;ENSP00000442458:A171V;ENSP00000329178:A392V;ENSP00000385747:A392V;ENSP00000386087:A392V;ENSP00000372023:A435V;ENSP00000384919:A301V;ENSP00000384835:A363V|.	.|ENSP00000329178:A392V|.	.|A|R	-|-|-	.|2|1	.|0|0	CHEK2|CHEK2|CHEK2	27421782|27421782|27421782	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.903000|0.903000|0.903000	0.53119|0.53119|0.53119	8.737000|8.737000|8.737000	0.91562|0.91562|0.91562	2.710000|2.710000|2.710000	0.92621|0.92621|0.92621	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	.|GCG|CGC		0.428	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		15	55	0	0	0	0.000958276	0	15	55				
PHLDB2	90102	broad.mit.edu	37	3	111685542	111685542	+	Nonsense_Mutation	SNP	G	G	T	rs370795450		TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr3:111685542G>T	ENST00000431670.2	+	14	3571	c.3160G>T	c.(3160-3162)Gaa>Taa	p.E1054*	PHLDB2_ENST00000412622.1_Nonsense_Mutation_p.E1011*|PHLDB2_ENST00000393923.3_Nonsense_Mutation_p.E1038*|PHLDB2_ENST00000481953.1_Nonsense_Mutation_p.E1011*|PHLDB2_ENST00000495180.1_Nonsense_Mutation_p.E545*|PHLDB2_ENST00000393925.3_Nonsense_Mutation_p.E1054*|PHLDB2_ENST00000470699.2_3'UTR	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1054						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCGGCTGCTCGAATCCAGGGT	0.488																																							uc010hqa.2		NA																	0				ovary(4)|skin(2)	6						c.(3160-3162)GAA>TAA		pleckstrin homology-like domain, family B,							67.0	77.0	73.0					3																	111685542		2203	4300	6503	SO:0001587	stop_gained	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111685542G>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3160G>T	3.37:g.111685542G>T	ENSP00000405405:p.Glu1054*					PHLDB2_uc003dyc.2_Nonsense_Mutation_p.E1038*|PHLDB2_uc003dyd.2_Nonsense_Mutation_p.E1011*|PHLDB2_uc003dyg.2_Nonsense_Mutation_p.E1054*|PHLDB2_uc003dyh.2_Nonsense_Mutation_p.E1011*|PHLDB2_uc003dyi.2_Nonsense_Mutation_p.E545*|PHLDB2_uc003dyj.2_Nonsense_Mutation_p.E109*	p.E1054*	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			14	3571	+			1054			Potential.		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Nonsense_Mutation	SNP	ENST00000431670.2	37	c.3160G>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	42	9.713193	0.99245	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.8071	0.92041	0.0:0.0:1.0:0.0	.	.	.	.	X	1038;1054;1011;1011;1054;1011;545	.	ENSP00000377500:E1038X	E	+	1	0	PHLDB2	113168232	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.530000	0.81962	2.818000	0.97014	0.591000	0.81541	GAA		0.488	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		14	29	1	0	1.05317e-09	0.000219431	6.31902e-09	14	29				
ACKR4	51554	broad.mit.edu	37	3	132319970	132319970	+	Silent	SNP	C	C	T			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr3:132319970C>T	ENST00000249887.2	+	2	825	c.729C>T	c.(727-729)ctC>ctT	p.L243L	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	243					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										AAGTTCTGCTCACAGTCGTTA	0.418																																						Pancreas(96;1505 1524 4501 17831 18121)	uc003eow.2		NA																	0					0						c.(727-729)CTC>CTT		chemokine (C-C motif) receptor-like 1							34.0	35.0	34.0					3																	132319970		2191	4284	6475	SO:0001819	synonymous_variant	51554				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:132319970C>T	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.729C>T	3.37:g.132319970C>T						ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Silent_p.L243L	p.L243L	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN			2	812	+			243			Helical; Name=6; (Potential).		B2R9U7	Silent	SNP	ENST00000249887.2	37	c.729C>T	CCDS3075.1																																																																																				0.418	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		19	50	0	0	0	0.001512	0	19	50				
TM4SF1	4071	broad.mit.edu	37	3	149093484	149093484	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr3:149093484A>C	ENST00000305366.3	-	2	567	c.250T>G	c.(250-252)Tgt>Ggt	p.C84G	TM4SF1_ENST00000472441.1_5'UTR|TM4SF1-AS1_ENST00000484046.1_RNA|TM4SF1-AS1_ENST00000496491.1_RNA	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	84						integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CGTTTGCCACAGTTTTCATGG	0.517																																							uc003exb.1		NA																	0					0						c.(250-252)TGT>GGT		transmembrane 4 superfamily member 1							183.0	159.0	167.0					3																	149093484		2203	4300	6503	SO:0001583	missense	4071					integral to plasma membrane		g.chr3:149093484A>C	M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"""transmembrane 4 superfamily member 1"""	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.250T>G	3.37:g.149093484A>C	ENSP00000304277:p.Cys84Gly					TM4SF1_uc003exc.1_5'UTR	p.C84G	NM_014220	NP_055035	P30408	T4S1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		2	484	-			84			Cytoplasmic (Probable).		Q6IB51	Missense_Mutation	SNP	ENST00000305366.3	37	c.250T>G	CCDS3143.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.798972	0.70567	.	.	ENSG00000169908	ENST00000305366;ENST00000383054	T	0.33865	1.39	5.77	5.77	0.91146	.	0.141423	0.50627	D	0.000120	T	0.51007	0.1649	M	0.80508	2.5	0.80722	D	1	P	0.40302	0.712	P	0.48598	0.583	T	0.55431	-0.8142	10	0.56958	D	0.05	-8.5283	11.1754	0.48596	0.9287:0.0:0.0713:0.0	.	84	P30408	T4S1_HUMAN	G	84	ENSP00000304277:C84G	ENSP00000304277:C84G	C	-	1	0	TM4SF1	150576174	0.998000	0.40836	0.885000	0.34714	0.986000	0.74619	3.455000	0.52993	2.192000	0.70111	0.533000	0.62120	TGT		0.517	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356368.1			18	157	0	0	0	0.00152264	0	18	157				
ADIPOQ	9370	broad.mit.edu	37	3	186570990	186570990	+	Missense_Mutation	SNP	G	G	A	rs182223755		TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr3:186570990G>A	ENST00000412955.2	+	2	284	c.143G>A	c.(142-144)gGc>gAc	p.G48D	ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G48D|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G48D			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	48	Collagen-like.				adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		GGGCATCCGGGCCATAATGGG	0.612																																							uc003fra.2		NA																	0				ovary(1)	1						c.(142-144)GGC>GAC		adiponectin precursor							37.0	41.0	40.0					3																	186570990		2203	4300	6503	SO:0001583	missense	9370				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity	g.chr3:186570990G>A	D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"""Endogenous ligands"""	13633	protein-coding gene	gene with protein product	"""adipose most abundant gene transcript 1"", ""adiponectin precursor"""	605441	"""adipocyte, C1Q and collagen domain containing"""	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.143G>A	3.37:g.186570990G>A	ENSP00000405611:p.Gly48Asp					ADIPOQ_uc010hyy.2_Missense_Mutation_p.G48D	p.G48D	NM_004797	NP_004788	Q15848	ADIPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)	2	227	+	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		48			Collagen-like.		Q58EX9	Missense_Mutation	SNP	ENST00000412955.2	37	c.143G>A	CCDS3284.1	.	.	.	.	.	.	.	.	.	.	G	32	5.157726	0.94686	.	.	ENSG00000181092	ENST00000412955;ENST00000320741;ENST00000444204	D;D;D	0.99353	-5.77;-5.77;-5.77	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.99619	0.9861	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97767	1.0224	10	0.87932	D	0	.	16.6188	0.84924	0.0:0.0:1.0:0.0	.	48	Q15848	ADIPO_HUMAN	D	48	ENSP00000405611:G48D;ENSP00000320709:G48D;ENSP00000389814:G48D	ENSP00000320709:G48D	G	+	2	0	ADIPOQ	188053684	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.824000	0.99380	2.616000	0.88540	0.655000	0.94253	GGC		0.612	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344490.2	NM_004797		8	15	0	0	0	0.000157383	0	8	15				
MUC4	4585	broad.mit.edu	37	3	195538661	195538662	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr3:195538661_195538662GG>AC	ENST00000346145.4	-	1	66_67	c.27_28CC>GT	c.(25-30)gtCCcc>gtGTcc	p.P10S	MUC4_ENST00000475231.1_Missense_Mutation_p.P10S|MUC4_ENST00000478685.1_5'UTR|MUC4_ENST00000349607.4_Missense_Mutation_p.P10S|MUC4_ENST00000463781.3_Missense_Mutation_p.P10S	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	10					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)		GACACCCAGGGGACCCTCCTCC	0.649																																							uc011bto.1		NA																	0					0						c.(25-30)GTCCCC>GTGTCC		mucin 4 isoform a																																				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.chr3:195538661_195538662GG>AC	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	ENST00000346145.4:c.27_28delinsAC	3.37:g.195538661_195538662delinsAC	ENSP00000304207:p.Pro10Ser					MUC4_uc003fvo.2_Missense_Mutation_p.P10S|MUC4_uc003fvp.2_Missense_Mutation_p.P10S|MUC4_uc010hzv.2_RNA	p.P10S	NM_018406	NP_060876	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)	1	487_488	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	10					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	DNP	ENST00000346145.4	37	c.27_28CC>GT	CCDS3310.1																																																																																				0.649	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		13	48	0	0	0	6.4e-05	0	13	48				
N4BP2	55728	broad.mit.edu	37	4	40122226	40122226	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr4:40122226C>G	ENST00000261435.6	+	9	2911	c.2495C>G	c.(2494-2496)tCt>tGt	p.S832C		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	832					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AACAGTGTATCTGTGAATACA	0.403																																							uc003guy.3		NA																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(2494-2496)TCT>TGT		Nedd4 binding protein 2							68.0	64.0	65.0					4																	40122226		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40122226C>G	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2495C>G	4.37:g.40122226C>G	ENSP00000261435:p.Ser832Cys					N4BP2_uc010ifq.2_Missense_Mutation_p.S752C|N4BP2_uc010ifr.2_Missense_Mutation_p.S752C	p.S832C	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			9	2833	+			832					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.2495C>G	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.04|10.04	1.241375|1.241375	0.22711|0.22711	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.21031	.|2.03	5.64|5.64	1.42|1.42	0.22433|0.22433	.|.	.|0.514144	.|0.20198	.|N	.|0.097153	T|T	0.31263|0.31263	0.0791|0.0791	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;P	.|0.64595	.|0.927;0.846	T|T	0.07028|0.07028	-1.0794|-1.0794	5|10	.|0.62326	.|D	.|0.03	-6.6298|-6.6298	2.7616|2.7616	0.05308|0.05308	0.2675:0.3744:0.2688:0.0893|0.2675:0.3744:0.2688:0.0893	.|.	.|832;832	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	M|C	478|832;752	.|ENSP00000261435:S832C	.|ENSP00000261435:S832C	I|S	+|+	3|2	3|0	N4BP2|N4BP2	39798621|39798621	0.135000|0.135000	0.22499|0.22499	0.009000|0.009000	0.14445|0.14445	0.378000|0.378000	0.30076|0.30076	0.808000|0.808000	0.27154|0.27154	0.694000|0.694000	0.31654|0.31654	0.561000|0.561000	0.74099|0.74099	ATC|TCT		0.403	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		4	31	0	0	0	0.00024832	0	4	31				
FGF10	2255	broad.mit.edu	37	5	44388506	44388506	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr5:44388506C>G	ENST00000264664.4	-	1	393	c.279G>C	c.(277-279)gaG>gaC	p.E93D	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	93					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TCCCGTTCTTCTCAATCTTGA	0.517																																							uc003jog.1		NA																	0				lung(3)	3						c.(277-279)GAG>GAC		fibroblast growth factor 10 precursor							134.0	142.0	139.0					5																	44388506		2203	4300	6503	SO:0001583	missense	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388506C>G		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.279G>C	5.37:g.44388506C>G	ENSP00000264664:p.Glu93Asp						p.E93D	NM_004465	NP_004456	O15520	FGF10_HUMAN			1	279	-	Lung NSC(6;1.12e-06)		93					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Missense_Mutation	SNP	ENST00000264664.4	37	c.279G>C	CCDS3950.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.489072	0.01018	.	.	ENSG00000070193	ENST00000264664	T	0.81078	-1.45	5.14	3.33	0.38152	.	0.132668	0.56097	D	0.000036	T	0.44912	0.1316	N	0.00399	-1.545	0.29058	N	0.884089	B	0.02656	0.0	B	0.01281	0.0	T	0.42224	-0.9464	10	0.09338	T	0.73	.	9.2004	0.37254	0.1202:0.7394:0.0:0.1405	.	93	O15520	FGF10_HUMAN	D	93	ENSP00000264664:E93D	ENSP00000264664:E93D	E	-	3	2	FGF10	44424263	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.843000	0.39259	0.181000	0.19994	-1.134000	0.01955	GAG		0.517	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		26	62	0	0	0	0.000409698	0	26	62				
KIF20A	10112	broad.mit.edu	37	5	137521298	137521298	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr5:137521298G>A	ENST00000394894.3	+	16	2250	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q	KIF20A_ENST00000508792.1_Missense_Mutation_p.R657Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	675					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGGCCCTACGGCGGTCACAA	0.507																																							uc003lcj.2		NA																	0					0						c.(2023-2025)CGG>CAG		kinesin family member 20A							93.0	95.0	95.0					5																	137521298		2203	4300	6503	SO:0001583	missense	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137521298G>A	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.2024G>A	5.37:g.137521298G>A	ENSP00000378356:p.Arg675Gln					KIF20A_uc011cyo.1_Missense_Mutation_p.R657Q	p.R675Q	NM_005733	NP_005724	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		16	2520	+			675			Potential.		B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	c.2024G>A	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185381	0.78677	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.71103	-0.51;-0.54	5.1	5.1	0.69264	.	0.000000	0.40469	N	0.001099	T	0.80369	0.4610	L	0.56769	1.78	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.76575	0.92;0.988	T	0.74188	-0.3746	10	0.13108	T	0.6	-17.3307	18.3012	0.90164	0.0:0.0:1.0:0.0	.	657;675	B4DL79;O95235	.;KI20A_HUMAN	Q	675;657	ENSP00000378356:R675Q;ENSP00000420880:R657Q	ENSP00000378356:R675Q	R	+	2	0	KIF20A	137549197	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.147000	0.77382	2.653000	0.90120	0.557000	0.71058	CGG		0.507	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		13	118	0	0	0	0.000219431	0	13	118				
REEP2	51308	broad.mit.edu	37	5	137776766	137776766	+	Missense_Mutation	SNP	G	G	A	rs147103044		TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr5:137776766G>A	ENST00000254901.5	+	2	216	c.94G>A	c.(94-96)Gtg>Atg	p.V32M	REEP2_ENST00000378339.2_Missense_Mutation_p.V32M|REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000506158.1_5'UTR	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	32					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GACAAAAAACGTGAAGGAATA	0.547																																							uc003lcz.2		NA																	0					0						c.(94-96)GTG>ATG		receptor accessory protein 2		G	MET/VAL	0,4406		0,0,2203	113.0	92.0	99.0		94	5.3	1.0	5	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense	REEP2	NM_016606.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	32/253	137776766	1,13005	2203	4300	6503	SO:0001583	missense	51308					integral to membrane		g.chr5:137776766G>A	AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.94G>A	5.37:g.137776766G>A	ENSP00000254901:p.Val32Met					REEP2_uc003lda.2_Missense_Mutation_p.V32M|REEP2_uc011cyt.1_Translation_Start_Site	p.V32M	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	216	+			32					Q53EM8|Q9NYF2	Missense_Mutation	SNP	ENST00000254901.5	37	c.94G>A	CCDS4205.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412049	0.96072	0.0	1.16E-4	ENSG00000132563	ENST00000378339;ENST00000254901	D;D	0.92446	-3.04;-3.04	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.95194	0.8442	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73380	0.97;0.98	D	0.94786	0.7958	10	0.51188	T	0.08	-10.1879	19.3069	0.94165	0.0:0.0:1.0:0.0	.	32;32	A8K3D2;Q9BRK0	.;REEP2_HUMAN	M	32	ENSP00000367590:V32M;ENSP00000254901:V32M	ENSP00000254901:V32M	V	+	1	0	REEP2	137804665	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.417000	0.59822	2.649000	0.89929	0.561000	0.74099	GTG		0.547	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	NM_016606		14	34	0	0	0	0.000308642	0	14	34				
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C	rs201104305		TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687																																							uc003lhx.2		NA																	2	Substitution - Missense(2)		urinary_tract(1)|kidney(1)	ovary(2)|skin(2)|breast(1)	5						c.(1615-1617)GGG>GCG		protocadherin alpha 10 isoform 1 precursor							53.0	57.0	56.0					5																	140237249		2196	4266	6462	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237249G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1616G>C	5.37:g.140237249G>C	ENSP00000304234:p.Gly539Ala					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.G539A	p.G539A	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1616	+			539			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1616G>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.655795	0.00108	.	.	ENSG00000250120	ENST00000307360	T	0.50277	0.75	3.63	2.76	0.32466	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32102	0.0818	L	0.31752	0.955	0.21841	N	0.999515	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.009	T	0.17653	-1.0362	9	0.02654	T	1	.	13.5065	0.61486	0.0:0.7018:0.2982:0.0	.	539;539	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	A	539	ENSP00000304234:G539A	ENSP00000304234:G539A	G	+	2	0	PCDHA10	140217433	0.000000	0.05858	0.992000	0.48379	0.064000	0.16182	0.168000	0.16622	0.861000	0.35504	-0.220000	0.12472	GGG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		5	148	0	0	0	0.000602214	0	5	148				
FCHSD1	89848	broad.mit.edu	37	5	141030648	141030648	+	Nonsense_Mutation	SNP	C	C	A	rs575872002		TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr5:141030648C>A	ENST00000435817.2	-	2	108	c.58G>T	c.(58-60)Gaa>Taa	p.E20*	FCHSD1_ENST00000522783.1_Nonsense_Mutation_p.E20*|FCHSD1_ENST00000522126.1_5'UTR|ARAP3_ENST00000512390.1_5'Flank|FCHSD1_ENST00000519800.1_Nonsense_Mutation_p.E20*	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	20	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCTGTTCCAGGAAGCGA	0.587																																							uc003llk.2		NA																FCHSD1/BRAF(2)	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(58-60)GAA>TAA		FCH and double SH3 domains 1							26.0	28.0	27.0					5																	141030648		2006	4173	6179	SO:0001587	stop_gained	89848							g.chr5:141030648C>A	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.58G>T	5.37:g.141030648C>A	ENSP00000399259:p.Glu20*					FCHSD1_uc003llj.2_RNA	p.E20*	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	109	-			20			FCH.		Q6UX75|Q86Y77|Q9NXX8	Nonsense_Mutation	SNP	ENST00000435817.2	37	c.58G>T	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	C	36	5.833228	0.97003	.	.	ENSG00000197948	ENST00000435817;ENST00000522783;ENST00000519800	.	.	.	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.3755	14.7462	0.69492	0.0:1.0:0.0:0.0	.	.	.	.	X	20	.	ENSP00000399259:E20X	E	-	1	0	FCHSD1	141010832	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.935000	0.63498	2.229000	0.72834	0.549000	0.68633	GAA		0.587	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		5	6	1	0	0.00116845	0.00116845	0.00618046	5	6				
ADAMTS2	9509	broad.mit.edu	37	5	178541012	178541012	+	Silent	SNP	G	G	A	rs531168228		TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr5:178541012G>A	ENST00000251582.7	-	22	3593	c.3492C>T	c.(3490-3492)ccC>ccT	p.P1164P		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1164					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGATTTTGTAGGGTTCATCTA	0.547																																							uc003mjw.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(3490-3492)CCC>CCT		ADAM metallopeptidase with thrombospondin type 1							231.0	222.0	225.0					5																	178541012		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178541012G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3492C>T	5.37:g.178541012G>A						uc003mjv.3_5'Flank	p.P1164P	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	22	3492	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	1164						Silent	SNP	ENST00000251582.7	37	c.3492C>T	CCDS4444.1																																																																																				0.547	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		30	103	0	0	0	0.00178596	0	30	103				
CANX	821	broad.mit.edu	37	5	179151752	179151752	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr5:179151752G>A	ENST00000247461.4	+	13	1813	c.1613G>A	c.(1612-1614)gGa>gAa	p.G538E	CANX_ENST00000512607.2_Missense_Mutation_p.G430E|CANX_ENST00000504734.1_Missense_Mutation_p.G538E|CANX_ENST00000415618.2_Missense_Mutation_p.G573E|CANX_ENST00000452673.2_Missense_Mutation_p.G538E	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	538	Sufficient to mediate interaction with SGIP1. {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	aaggacaagggagatgaggag	0.433																																							uc003mkk.2		NA																	0					0						c.(1612-1614)GGA>GAA		calnexin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						117.0	117.0	117.0					5																	179151752		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179151752G>A	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1613G>A	5.37:g.179151752G>A	ENSP00000247461:p.Gly538Glu					CANX_uc011dgp.1_Missense_Mutation_p.G573E|CANX_uc003mkl.2_Missense_Mutation_p.G538E|CANX_uc011dgq.1_Missense_Mutation_p.G430E	p.G538E	NM_001746	NP_001737	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1790	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	538			Cytoplasmic (Potential).		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.1613G>A	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	G	1.601	-0.526614	0.04141	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000512607	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.8	5.72	-1.6	0.08426	.	0.929516	0.09260	N	0.826753	T	0.13500	0.0327	N	0.00760	-1.21	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34527	-0.9825	10	0.02654	T	1	-6.0633	8.1196	0.30963	0.207:0.4318:0.3611:0.0	.	573;538	B4DGP8;P27824	.;CALX_HUMAN	E	538;573;538;538;430	ENSP00000424063:G538E;ENSP00000394817:G573E;ENSP00000391646:G538E;ENSP00000247461:G538E;ENSP00000423588:G430E	ENSP00000247461:G538E	G	+	2	0	CANX	179084358	0.123000	0.22298	0.698000	0.30274	0.879000	0.50718	0.224000	0.17738	0.048000	0.15891	-0.181000	0.13052	GGA		0.433	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		7	7	0	0	0	8.12818e-05	0	7	7				
TRIM41	90933	broad.mit.edu	37	5	180651713	180651713	+	Silent	SNP	C	C	T			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr5:180651713C>T	ENST00000315073.5	+	1	1424	c.714C>T	c.(712-714)tgC>tgT	p.C238C	TRIM41_ENST00000351937.5_Silent_p.C238C|MIR4638_ENST00000581158.1_RNA|CTC-338M12.7_ENST00000499096.2_RNA	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	238					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTCTTCTGCGAGGTAGACG	0.592																																							uc003mnb.1		NA																	0					NA						c.(178-180)CGC>CAC		Homo sapiens cDNA FLJ36305 fis, clone THYMU2004677.							69.0	60.0	63.0					5																	180651713		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:180651713C>T	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.714C>T	5.37:g.180651713C>T						TRIM41_uc003mnc.1_Silent_p.C238C|TRIM41_uc003mnd.1_Silent_p.C238C|TRIM41_uc003mne.1_Silent_p.C238C|TRIM41_uc003mnf.1_RNA	p.R60H							2	499	-								B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	c.179G>A	CCDS4466.1																																																																																				0.592	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		22	43	0	0	0	0.00188189	0	22	43				
UTRN	7402	broad.mit.edu	37	6	144875916	144875916	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr6:144875916T>C	ENST00000367545.3	+	48	7021	c.7021T>C	c.(7021-7023)Tgg>Cgg	p.W2341R		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2341					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGTCTTCAGTGGGATGACCA	0.493																																							uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(7021-7023)TGG>CGG		utrophin							104.0	102.0	103.0					6																	144875916		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144875916T>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7021T>C	6.37:g.144875916T>C	ENSP00000356515:p.Trp2341Arg						p.W2341R	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	48	7113	+		Ovarian(120;0.218)	2341					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.7021T>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.024092	0.75390	.	.	ENSG00000152818	ENST00000367545	T	0.34472	1.36	5.34	4.13	0.48395	.	0.000000	0.47093	D	0.000256	T	0.45357	0.1338	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	D	0.70935	0.971	T	0.49194	-0.8965	10	0.87932	D	0	.	11.6445	0.51253	0.1326:0.0:0.0:0.8674	.	2341	P46939	UTRO_HUMAN	R	2341	ENSP00000356515:W2341R	ENSP00000356515:W2341R	W	+	1	0	UTRN	144917609	1.000000	0.71417	0.975000	0.42487	0.992000	0.81027	7.698000	0.84413	2.012000	0.59069	0.383000	0.25322	TGG		0.493	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			4	67	0	0	0	0.00024832	0	4	67				
PDE10A	10846	broad.mit.edu	37	6	165848820	165848820	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr6:165848820G>A	ENST00000366882.1	-	7	566	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	PDE10A_ENST00000354448.4_Missense_Mutation_p.R138C|PDE10A_ENST00000539869.2_Missense_Mutation_p.R148C			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	138	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GGGATGAGGCGGGGTTTTCCT	0.488																																					Esophageal Squamous(22;308 615 5753 12038 40624)	Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	0				ovary(3)|skin(2)	5						c.(412-414)CGC>TGC		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						142.0	122.0	129.0					6																	165848820		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165848820G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.412C>T	6.37:g.165848820G>A	ENSP00000355847:p.Arg138Cys					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.R68C|PDE10A_uc003quo.2_Missense_Mutation_p.R148C	p.R138C	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	7	653	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	138			GAF 1.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.412C>T		.	.	.	.	.	.	.	.	.	.	G	16.44	3.124581	0.56613	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.69685	-0.42;-0.42	5.32	2.43	0.29744	GAF (1);	0.473990	0.25535	N	0.030018	T	0.56232	0.1971	L	0.38175	1.15	0.34187	D	0.671619	P;D	0.67145	0.855;0.996	B;P	0.54815	0.326;0.761	T	0.61535	-0.7043	10	0.56958	D	0.05	.	14.8554	0.70332	0.0:0.0:0.6522:0.3478	.	148;138	Q9ULW9;Q9Y233	.;PDE10_HUMAN	C	138;166;148;138;137	ENSP00000355847:R138C;ENSP00000346435:R138C	ENSP00000341187:R148C	R	-	1	0	PDE10A	165768810	0.002000	0.14202	0.072000	0.20136	0.697000	0.40408	0.359000	0.20233	0.267000	0.21916	0.460000	0.39030	CGC		0.488	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			11	55	0	0	0	0.00185496	0	11	55				
ANKRD7	56311	broad.mit.edu	37	7	117876904	117876904	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr7:117876904G>C	ENST00000265224.4	+	5	791	c.636G>C	c.(634-636)caG>caC	p.Q212H	ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Missense_Mutation_p.Q159H|ANKRD7_ENST00000357099.4_Missense_Mutation_p.Q232H|ANKRD7_ENST00000417525.1_Missense_Mutation_p.Q159H	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	212					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.Q232H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TTCTTCTTCAGCAAGGTGTGG	0.393																																							uc003vji.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(634-636)CAG>CAC		ankyrin repeat domain 7							241.0	224.0	229.0					7																	117876904		1895	4116	6011	SO:0001583	missense	56311				male gonad development			g.chr7:117876904G>C	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.636G>C	7.37:g.117876904G>C	ENSP00000265224:p.Gln212His						p.Q212H	NM_019644	NP_062618	Q92527	ANKR7_HUMAN			5	809	+			212			ANK 5.		B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	c.636G>C	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	G	8.862	0.947116	0.18356	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	T;T;T;T	0.54071	1.53;1.53;0.59;0.59	4.57	3.69	0.42338	Ankyrin repeat-containing domain (3);	0.317892	0.22696	N	0.056749	T	0.55481	0.1923	M	0.64404	1.975	0.30774	N	0.742666	P	0.40302	0.712	P	0.46076	0.503	T	0.62421	-0.6858	10	0.72032	D	0.01	-10.7273	9.9403	0.41576	0.0979:0.0:0.9021:0.0	.	212	Q92527	ANKR7_HUMAN	H	232;212;159;159	ENSP00000349612:Q232H;ENSP00000265224:Q212H;ENSP00000395595:Q159H;ENSP00000388473:Q159H	ENSP00000265224:Q212H	Q	+	3	2	ANKRD7	117664140	0.780000	0.28664	0.996000	0.52242	0.219000	0.24729	0.214000	0.17541	1.058000	0.40530	0.305000	0.20034	CAG		0.393	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		4	112	0	0	0	0.00116845	0	4	112				
HSD17B3	3293	broad.mit.edu	37	9	98997839	98997839	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr9:98997839C>T	ENST00000375263.3	-	11	883	c.836G>A	c.(835-837)aGc>aAc	p.S279N	AL160269.1_ENST00000577254.1_RNA|HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Missense_Mutation_p.S229N	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	279					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				CGGGATCAGGCTCAGAAAGCC	0.488																																							uc004awa.1		NA																	0					0						c.(835-837)AGC>AAC		estradiol 17 beta-dehydrogenase 3	NADH(DB00157)						70.0	61.0	64.0					9																	98997839		2203	4300	6503	SO:0001583	missense	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:98997839C>T		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5212	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 2"""	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.836G>A	9.37:g.98997839C>T	ENSP00000364412:p.Ser279Asn					HSD17B3_uc010msc.1_Missense_Mutation_p.S229N	p.S279N	NM_000197	NP_000188	P37058	DHB3_HUMAN			11	884	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	279					Q5U0Q6	Missense_Mutation	SNP	ENST00000375263.3	37	c.836G>A	CCDS6716.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.131895	0.37630	.	.	ENSG00000130948	ENST00000375263;ENST00000375262	D;D	0.85258	-1.93;-1.96	4.85	-5.82	0.02333	.	0.957168	0.08857	N	0.883574	T	0.66829	0.2829	N	0.13043	0.29	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.51028	-0.8757	10	0.27785	T	0.31	-11.8545	6.7639	0.23556	0.0:0.1845:0.2436:0.5719	.	229;279	Q5U0Q6;P37058	.;DHB3_HUMAN	N	279;229	ENSP00000364412:S279N;ENSP00000364411:S229N	ENSP00000364411:S229N	S	-	2	0	HSD17B3	98037660	0.049000	0.20398	0.108000	0.21378	0.508000	0.34012	-0.885000	0.04161	-0.976000	0.03542	0.591000	0.81541	AGC		0.488	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197		11	10	0	0	0	0.000978159	0	11	10				
PTCHD1	139411	broad.mit.edu	37	X	23412156	23412156	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chrX:23412156A>G	ENST00000379361.4	+	3	3381	c.2521A>G	c.(2521-2523)Att>Gtt	p.I841V		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	841					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTGCTTTGCCATTTTACCTGT	0.418																																							uc004dal.3		NA																	0				ovary(4)|kidney(1)|skin(1)	6						c.(2521-2523)ATT>GTT		patched domain containing 1							143.0	133.0	136.0					X																	23412156		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23412156A>G	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2521A>G	X.37:g.23412156A>G	ENSP00000368666:p.Ile841Val						p.I841V	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			3	2529	+			841			Helical; (Potential).		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.2521A>G	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	A	8.959	0.970043	0.18659	.	.	ENSG00000165186	ENST00000379361	D	0.86030	-2.06	4.6	4.6	0.57074	.	0.057455	0.64402	D	0.000002	T	0.79747	0.4499	L	0.33245	0.995	0.39215	D	0.963395	B	0.14805	0.011	B	0.27262	0.078	T	0.76945	-0.2771	10	0.44086	T	0.13	.	13.4228	0.61007	1.0:0.0:0.0:0.0	.	841	Q96NR3	PTHD1_HUMAN	V	841	ENSP00000368666:I841V	ENSP00000368666:I841V	I	+	1	0	PTCHD1	23322077	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.809000	0.75211	1.610000	0.50200	0.350000	0.21858	ATT		0.418	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		35	76	0	0	0	0.000491102	0	35	76				
WDR13	64743	broad.mit.edu	37	X	48460281	48460281	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chrX:48460281C>A	ENST00000218056.5	+	6	1446	c.941C>A	c.(940-942)gCc>gAc	p.A314D	WDR13_ENST00000376729.5_Missense_Mutation_p.A314D	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	314						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCCTTTGATGCCCCTGGCCGG	0.577																																							uc004dkh.1		NA																	0				ovary(2)	2						c.(940-942)GCC>GAC		WD repeat domain 13 protein							80.0	61.0	67.0					X																	48460281		2203	4300	6503	SO:0001583	missense	64743					cytoplasm|nucleus		g.chrX:48460281C>A	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.941C>A	X.37:g.48460281C>A	ENSP00000218056:p.Ala314Asp					WDR13_uc010nif.1_Missense_Mutation_p.A192D|WDR13_uc004dki.1_Missense_Mutation_p.A222D|WDR13_uc004dkj.1_Missense_Mutation_p.A314D|WDR13_uc004dkk.1_Missense_Mutation_p.A222D|WDR13_uc004dkl.3_Missense_Mutation_p.A222D	p.A314D	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN			7	1088	+			314			WD 3.		Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	c.941C>A	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469818	0.63625	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.65732	-0.17;-0.17	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.288037	0.38663	N	0.001601	T	0.53433	0.1796	L	0.34521	1.04	0.53005	D	0.999964	B	0.06786	0.001	B	0.06405	0.002	T	0.51865	-0.8651	10	0.62326	D	0.03	.	15.575	0.76368	0.0:1.0:0.0:0.0	.	314	Q9H1Z4	WDR13_HUMAN	D	314	ENSP00000365919:A314D;ENSP00000218056:A314D	ENSP00000218056:A314D	A	+	2	0	WDR13	48345225	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.761000	0.74945	2.272000	0.75746	0.431000	0.28591	GCC		0.577	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			11	37	1	0	5.50884e-06	0.00136819	3.11909e-05	11	37				
CCNB3	85417	broad.mit.edu	37	X	50094701	50094701	+	Nonstop_Mutation	SNP	A	A	G			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chrX:50094701A>G	ENST00000376042.1	+	13	4485	c.4187A>G	c.(4186-4188)tAg>tGg	p.*1396W	CCNB3_ENST00000376038.1_Nonstop_Mutation_p.*292W|CCNB3_ENST00000276014.7_Nonstop_Mutation_p.*1396W|CCNB3_ENST00000348603.2_Nonstop_Mutation_p.*292W			Q8WWL7	CCNB3_HUMAN	cyclin B3	0					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTGGTACTCTAGCAGCAGCCA	0.428																																							uc004dox.3		NA																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(4186-4188)TAG>TGG		cyclin B3 isoform 3							77.0	68.0	71.0					X																	50094701		2203	4300	6503	SO:0001578	stop_lost	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50094701A>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.4187A>G	X.37:g.50094701A>G	ENSP00000365210:p.*1396Trpext*6					CCNB3_uc004doy.2_Nonstop_Mutation_p.*1396W|CCNB3_uc004doz.2_Nonstop_Mutation_p.*292W|CCNB3_uc010njq.2_Nonstop_Mutation_p.*288W|CCNB3_uc004dpa.2_Nonstop_Mutation_p.*235W	p.*1396W	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			13	4485	+	Ovarian(276;0.236)		1396					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Nonstop_Mutation	SNP	ENST00000376042.1	37	c.4187A>G	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.269009	0.23221	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	.	.	.	5.17	2.41	0.29592	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4768	0.22041	0.3321:0.0:0.6679:0.0	.	.	.	.	W	1396;292;292;1396	.	.	X	+	2	0	CCNB3	50111441	0.002000	0.14202	0.006000	0.13384	0.027000	0.11550	1.053000	0.30442	0.141000	0.18875	-0.395000	0.06472	TAG		0.428	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			5	48	0	0	0	0.000602214	0	5	48				
FAM155B	27112	broad.mit.edu	37	X	68725635	68725635	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chrX:68725635C>A	ENST00000252338.4	+	1	552	c.510C>A	c.(508-510)gaC>gaA	p.D170E	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	170						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GGCCCCCTGACTCCCTTTCCC	0.592																																							uc004dxk.2		NA																	0				ovary(1)|breast(1)	2						c.(508-510)GAC>GAA		transmembrane protein 28							24.0	30.0	28.0					X																	68725635		2201	4298	6499	SO:0001583	missense	27112					integral to membrane		g.chrX:68725635C>A	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.510C>A	X.37:g.68725635C>A	ENSP00000252338:p.Asp170Glu						p.D170E	NM_015686	NP_056501	O75949	F155B_HUMAN			1	558	+			170					B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	ENST00000252338.4	37	c.510C>A	CCDS35317.1	.	.	.	.	.	.	.	.	.	.	C	4.750	0.139450	0.09083	.	.	ENSG00000130054	ENST00000252338	T	0.41065	1.01	4.7	1.92	0.25849	.	0.309004	0.25475	N	0.030416	T	0.15565	0.0375	N	0.08118	0	0.09310	N	1	B	0.33103	0.397	B	0.30316	0.114	T	0.33675	-0.9859	10	0.05721	T	0.95	-5.7266	6.7131	0.23288	0.0:0.5761:0.0:0.4239	.	170	O75949-2	.	E	170	ENSP00000252338:D170E	ENSP00000252338:D170E	D	+	3	2	FAM155B	68642360	0.000000	0.05858	0.886000	0.34754	0.442000	0.32017	0.064000	0.14437	-0.012000	0.14223	-0.393000	0.06486	GAC		0.592	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		11	34	1	0	6.40141e-05	0.000978159	0.000352516	11	34				
PPAPDC1A	196051	broad.mit.edu	37	10	122280537	122280539	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	AAT	AAT	-	-	AAT	AAT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr10:122280537_122280539delAAT	ENST00000398250.1	+	5	727_729	c.375_377delAAT	c.(373-378)gaaatg>gag	p.M126del	PPAPDC1A_ENST00000369073.3_In_Frame_Del_p.M116del|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000541332.1_In_Frame_Del_p.M126del	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	126					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TGAACTCGGAAATGCATTGCACA	0.493																																							uc001lev.1		NA																	0				breast(1)	1						c.(373-378)GAAATG>GAG		phosphatidic acid phosphatase type 2 domain																																				SO:0001651	inframe_deletion	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122280537_122280539delAAT	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.375_377delAAT	10.37:g.122280537_122280539delAAT	ENSP00000381302:p.Met126del					PPAPDC1A_uc010qtd.1_In_Frame_Del_p.M126del|PPAPDC1A_uc009xzl.1_Intron|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_In_Frame_Del_p.M5del	p.M126del	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	5	727_729	+		Lung NSC(174;0.1)|all_lung(145;0.132)	126					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	In_Frame_Del	DEL	ENST00000398250.1	37	c.375_377delAAT	CCDS41573.1																																																																																				0.493	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		20	42	NA	NA	NA	NA	NA	20	42	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711145	6711147	+	In_Frame_Del	DEL	TCC	TCC	-	rs71584865|rs1639122	byFrequency	TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	TCC	TCC	-	-	TCC	TCC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr12:6711145_6711147delTCC	ENST00000357008.2	-	4	580_582	c.417_419delGGA	c.(415-420)gaggat>gat	p.E139del	CHD4_ENST00000309577.6_In_Frame_Del_p.E139del|CHD4_ENST00000544040.1_In_Frame_Del_p.E132del|CHD4_ENST00000544484.1_In_Frame_Del_p.E136del	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	139	Poly-Asp.		E -> D (in dbSNP:rs1639122). {ECO:0000269|PubMed:7575689}.		ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ATCATCATCAtcctcctcctcct	0.453																																					Colon(32;586 792 4568 16848 45314)	Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NA																	0				central_nervous_system(2)	2						c.(415-420)GAGGAT>GAT		chromodomain helicase DNA binding protein 4																																				SO:0001651	inframe_deletion	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711145_6711147delTCC	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.417_419delGGA	12.37:g.6711154_6711156delTCC	ENSP00000349508:p.Glu139del					CHD4_uc001qpn.2_In_Frame_Del_p.E132del|CHD4_uc001qpp.2_In_Frame_Del_p.E136del	p.E139del	NM_001273	NP_001264	Q14839	CHD4_HUMAN			4	581_583	-			139			Poly-Asp.		Q8IXZ5	In_Frame_Del	DEL	ENST00000357008.2	37	c.417_419delGGA	CCDS8552.1																																																																																				0.453	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		7	45	NA	NA	NA	NA	NA	7	45	---	---	---	---
ABCC4	10257	broad.mit.edu	37	13	95818595	95818595	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr13:95818595delG	ENST00000376887.4	-	15	1965	c.1851delC	c.(1849-1851)tacfs	p.Y617fs	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Frame_Shift_Del_p.Y617fs|ABCC4_ENST00000412704.1_Frame_Shift_Del_p.Y617fs|ABCC4_ENST00000536256.1_Frame_Shift_Del_p.Y542fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	617	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GGAACTCAGTGTAAGTCCCCT	0.368																																							uc001vmd.3		NA																	0				central_nervous_system(3)|skin(1)	4						c.(1849-1851)TACfs		ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)						90.0	89.0	89.0					13																	95818595		2203	4300	6503	SO:0001589	frameshift_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95818595delG	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1851delC	13.37:g.95818595delG	ENSP00000366084:p.Tyr617fs					ABCC4_uc010afk.2_Frame_Shift_Del_p.Y617fs|ABCC4_uc001vme.2_Frame_Shift_Del_p.Y617fs|ABCC4_uc010tih.1_Frame_Shift_Del_p.Y542fs|ABCC4_uc001vmf.2_Frame_Shift_Del_p.Y574fs|ABCC4_uc010afl.1_Frame_Shift_Del_p.Y574fs|ABCC4_uc010afm.1_Frame_Shift_Del_p.Y630fs	p.Y617fs	NM_005845	NP_005836	O15439	MRP4_HUMAN			15	1970	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		617			ABC transporter 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Frame_Shift_Del	DEL	ENST00000376887.4	37	c.1851delC	CCDS9474.1																																																																																				0.368	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		9	57	NA	NA	NA	NA	NA	9	57	---	---	---	---
SLC7A5	8140	broad.mit.edu	37	16	87870213	87870213	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr16:87870213delA	ENST00000261622.4	-	8	1246	c.1181delT	c.(1180-1182)ttcfs	p.F394fs	RP4-536B24.2_ENST00000563687.1_RNA|SLC7A5_ENST00000565644.1_Frame_Shift_Del_p.F128fs	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	394					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	GATGACGGAGAAGATGTCCTT	0.612																																							uc002fkm.2		NA																	0					0						c.(1180-1182)TTCfs		solute carrier family 7 (cationic amino acid							96.0	90.0	92.0					16																	87870213		2198	4300	6498	SO:0001589	frameshift_variant	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87870213delA	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1181delT	16.37:g.87870213delA	ENSP00000261622:p.Phe394fs						p.F394fs	NM_003486	NP_003477	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	8	1253	-			394					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Frame_Shift_Del	DEL	ENST00000261622.4	37	c.1181delT	CCDS10964.1																																																																																				0.612	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		12	34	NA	NA	NA	NA	NA	12	34	---	---	---	---
SERTAD1	29950	broad.mit.edu	37	19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557																																							uc002ont.3		NA																	0					0						c.(43-45)GAGdel		SERTA domain containing 1																																				SO:0001651	inframe_deletion	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929409_40929411delCTC	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.43_45delGAG	19.37:g.40929418_40929420delCTC	ENSP00000350633:p.Glu15del						p.E15del	NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	202_204	-			15					Q9BUE7	In_Frame_Del	DEL	ENST00000357949.4	37	c.43_45delGAG	CCDS12557.1																																																																																				0.557	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		7	78	NA	NA	NA	NA	NA	7	78	---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38555171	38555180	+	Frame_Shift_Del	DEL	ATCACTGAAG	ATCACTGAAG	-			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	ATCACTGAAG	ATCACTGAAG	-	-	ATCACTGAAG	ATCACTGAAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr21:38555171_38555180delATCACTGAAG	ENST00000399017.2	+	36	7460_7469	c.4713_4722delATCACTGAAG	c.(4711-4722)aaatcactgaagfs	p.KSLK1571fs	TTC3_ENST00000355666.1_Frame_Shift_Del_p.KSLK1571fs|TTC3_ENST00000354749.2_Frame_Shift_Del_p.KSLK1571fs|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1571	Arg/Lys-rich (basic).				negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAAGACTAAAATCACTGAAGAAGAAAATTA	0.271																																					Ovarian(38;194 1649 35661)	Ovarian(38;194 1649 35661)	uc002yvz.2		NA																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(4711-4722)AAATCACTGAAGfs		tetratricopeptide repeat domain 3																																				SO:0001589	frameshift_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38555171_38555180delATCACTGAAG	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.4713_4722delATCACTGAAG	21.37:g.38555171_38555180delATCACTGAAG	ENSP00000381981:p.Lys1571fs					TTC3_uc002ywa.2_Frame_Shift_Del_p.K1571fs|TTC3_uc002ywb.2_Frame_Shift_Del_p.K1571fs|TTC3_uc010gnf.2_Frame_Shift_Del_p.K1336fs|TTC3_uc002ywc.2_Frame_Shift_Del_p.K1261fs|TTC3_uc002ywd.1_Frame_Shift_Del_p.K635fs	p.K1571fs	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			36	4818_4827	+		Myeloproliferative disorder(46;0.0412)	1571_1574			Arg/Lys-rich (basic).		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Frame_Shift_Del	DEL	ENST00000399017.2	37	c.4713_4722delATCACTGAAG	CCDS13651.1																																																																																				0.271	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			9	34	NA	NA	NA	NA	NA	9	34	---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140202657	140202658	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr5:140202657_140202658insA	ENST00000529859.1	+	1	1297_1298	c.1297_1298insA	c.(1297-1299)tcgfs	p.S433fs	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Frame_Shift_Ins_p.S433fs|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Frame_Shift_Ins_p.S433fs|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	433	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTCGCCTTCGCTGTGGGCC	0.639																																							uc003lhl.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1297-1299)TCGfs		protocadherin alpha 5 isoform 1 precursor																																				SO:0001589	frameshift_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202657_140202658insA	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		Exception_encountered	5.37:g.140202657_140202658insA	ENSP00000436557:p.Ser433fs					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Frame_Shift_Ins_p.S433fs|PCDHA5_uc003lhj.1_Frame_Shift_Ins_p.S433fs	p.S433fs	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1297_1298	+			433			Extracellular (Potential).|Cadherin 4.		O75284|Q8N4R3	Frame_Shift_Ins	INS	ENST00000529859.1	37	c.1297_1298insA	CCDS54917.1																																																																																				0.639	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		44	141	NA	NA	NA	NA	NA	44	141	---	---	---	---
FAM184A	79632	broad.mit.edu	37	6	119324685	119324686	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr6:119324685_119324686insA	ENST00000338891.7	-	8	2360_2361	c.1917_1918insT	c.(1915-1920)attaagfs	p.K640fs	FAM184A_ENST00000368475.4_Frame_Shift_Ins_p.K520fs|FAM184A_ENST00000521531.1_Frame_Shift_Ins_p.K640fs|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Frame_Shift_Ins_p.K520fs	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	640						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCAGTCCACTTAATTTCTAAGT	0.347																																							uc003pyj.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.(1915-1920)ATTAAGfs		hypothetical protein LOC79632 isoform 1																																				SO:0001589	frameshift_variant	79632							g.chr6:119324685_119324686insA	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1918dupT	6.37:g.119324687_119324687dupA	ENSP00000342604:p.Lys640fs					FAM184A_uc003pyk.3_Frame_Shift_Ins_p.I519fs|FAM184A_uc003pyl.3_Frame_Shift_Ins_p.I519fs	p.I639fs	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			8	2265_2266	-			639_640			Potential.		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Frame_Shift_Ins	INS	ENST00000338891.7	37	c.1917_1918insT	CCDS43499.1																																																																																				0.347	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		24	50	NA	NA	NA	NA	NA	24	50	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55249017	55249018	+	In_Frame_Ins	INS	-	-	CCA	rs397517116|rs121913445|rs397517115		TCGA-50-6673-01A-11D-1945-08	TCGA-50-6673-11A-02D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc6185f2-f1ea-43ea-8d4f-3b121949d06f	20683d9f-102f-4976-985f-97162ae99514	g.chr7:55249017_55249018insCCA	ENST00000275493.2	+	20	2492_2493	c.2315_2316insCCA	c.(2314-2319)ccccac>ccCCAccac	p.773_774insH	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Ins_p.720_721insH|EGFR_ENST00000455089.1_In_Frame_Ins_p.728_729insH	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	773	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.P772_H773insX(2)|p.N771_P772>SVDNR(1)|p.P772_H773insTHP(1)|p.P772_H773insV(1)|p.P772_H773insHV(1)|p.H773>NPY(1)|p.P772P(1)|p.P772R(1)|p.D770_P772>ASVDNR(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGGACAACCCCCACGTGTGCC	0.644		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		10	Insertion - In frame(5)|Complex - insertion inframe(3)|Substitution - Missense(1)|Substitution - coding silent(1)	p.H773_V774insNPH(12)|p.P772_H773insPR(11)|p.H773R(9)|p.H773_V774insPH(3)|p.H773_V774insH(3)|p.P772_H773insYNP(2)|p.H773Y(2)|p.P772_H773insX(2)|p.N771_P772>SVDNR(1)|p.P772_H773insTHP(1)|p.H773_V774insGH(1)|p.H773L(1)|p.H773_V774insG(1)|p.P772_H773insQV(1)|p.H773_V774insGNPH(1)|p.H773>NPY(1)|p.H773_V774>LM(1)|p.P772_H773insDHP(1)|p.P772P(1)|p.P772_H773insDNP(1)|p.D770_P772>ASVDNR(1)	lung(9)|ovary(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2314-2316)CCC>CCCCAC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001652	inframe_insertion	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55249017_55249018insCCA		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2316_2318dupCCA	7.37:g.55249018_55249020dupCCA	ENSP00000275493:p.His773_His773dup	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_In_Frame_Ins_p.728_729insH|EGFR_uc011kco.1_In_Frame_Ins_p.720_721insH|uc003tqo.2_RNA	p.773_774insH	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		20	2561_2562	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		773_774			Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Ins	INS	ENST00000275493.2	37	c.2315_2316insCCA	CCDS5514.1																																																																																				0.644	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		129	172	NA	NA	NA	NA	NA	129	172	---	---	---	---
