#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	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_tumor_sample
CAMTA1	23261	broad.mit.edu	37	1	7724545	7724545	+	Silent	SNP	G	G	A	rs142993717		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:7724545G>A	ENST00000303635.7	+	9	2145	c.1938G>A	c.(1936-1938)acG>acA	p.T646T	CAMTA1_ENST00000439411.2_Silent_p.T646T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	646					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)		TGATGCCCACGGTGAAAACGG	0.637			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2		NaN		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.(1936-1938)ACG>ACA		calmodulin-binding transcription activator 1							110.0	117.0	114.0					1																	7724545		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724545G>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.1938G>A	1.37:g.7724545G>A							p.T646T	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)	9	2145	+	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)	646					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.1938G>A	CCDS30576.1																																																																																				0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3		NM_015215		33	161	0	0	0	0.013726	0	33	161		
UBR4	23352	broad.mit.edu	37	1	19497352	19497352	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:19497352C>T	ENST00000375254.3	-	26	3574	c.3547G>A	c.(3547-3549)Gaa>Aaa	p.E1183K	UBR4_ENST00000375267.2_Missense_Mutation_p.E1183K|UBR4_ENST00000375217.2_Missense_Mutation_p.E1183K|UBR4_ENST00000375226.2_Missense_Mutation_p.E1183K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1183					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTTCCCTCTTCATTAAAGTTT	0.453																																						uc001bbi.2		NaN																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(3547-3549)GAA>AAA		retinoblastoma-associated factor 600							81.0	81.0	81.0					1																	19497352		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19497352C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3547G>A	1.37:g.19497352C>T	ENSP00000364403:p.Glu1183Lys					UBR4_uc001bbm.1_Missense_Mutation_p.E394K	p.E1183K	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	26	3551	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1183					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.3547G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885371	0.91814	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.24151	1.88;1.88;1.87;1.87	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	L	0.50333	1.59	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.16100	-1.0414	10	0.56958	D	0.05	.	18.1662	0.89727	0.0:1.0:0.0:0.0	.	1183	Q5T4S7	UBR4_HUMAN	K	1183;1183;1183;1183;399	ENSP00000364403:E1183K;ENSP00000364416:E1183K;ENSP00000364365:E1183K;ENSP00000364374:E1183K	ENSP00000364365:E1183K	E	-	1	0	UBR4	19369939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.093000	0.76937	2.824000	0.97209	0.655000	0.94253	GAA		0.453	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		48	49	0	0	0	0.01441	0	48	49		
EIF4G3	8672	broad.mit.edu	37	1	21183933	21183933	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:21183933C>T	ENST00000264211.8	-	19	3328	c.3134G>A	c.(3133-3135)cGg>cAg	p.R1045Q	EIF4G3_ENST00000602326.1_Missense_Mutation_p.R1051Q|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R1051Q|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R535Q|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R765Q|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R1045Q|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R649Q	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1045					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GTCCAGTACCCGACTGTTCTT	0.463																																						uc001bec.2		NaN																	0				skin(1)	1						c.(3133-3135)CGG>CAG		eukaryotic translation initiation factor 4							262.0	261.0	261.0					1																	21183933		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21183933C>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3134G>A	1.37:g.21183933C>T	ENSP00000264211:p.Arg1045Gln					EIF4G3_uc010odi.1_Missense_Mutation_p.R649Q|EIF4G3_uc010odj.1_Missense_Mutation_p.R1044Q|EIF4G3_uc009vpz.2_Missense_Mutation_p.R765Q|EIF4G3_uc001bed.2_Missense_Mutation_p.R1045Q|EIF4G3_uc001bef.2_Missense_Mutation_p.R1081Q|EIF4G3_uc001bee.2_Missense_Mutation_p.R1051Q	p.R1045Q	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	20	3390	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1045					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.3134G>A	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	36	5.867271	0.97043	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.08282	3.59;3.59;3.45;3.11;3.59;3.29	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;P	0.83275	0.996;0.963;0.991;0.992;0.903	T	0.00063	-1.2153	10	0.36615	T	0.2	-9.8857	20.1379	0.98040	0.0:1.0:0.0:0.0	.	1240;765;649;1051;1045	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	Q	1045;1241;1045;765;535;1051;649	ENSP00000264211:R1045Q;ENSP00000383274:R1045Q;ENSP00000364071:R765Q;ENSP00000442010:R535Q;ENSP00000364073:R1051Q;ENSP00000444693:R649Q	ENSP00000264211:R1045Q	R	-	2	0	EIF4G3	21056520	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.760000	0.85248	2.779000	0.95612	0.655000	0.94253	CGG		0.463	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3		NM_003760		101	247	0	0	0	0.01441	0	101	247		
ARID1A	8289	broad.mit.edu	37	1	27059176	27059176	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:27059176C>G	ENST00000324856.7	+	4	2184	c.1813C>G	c.(1813-1815)Caa>Gaa	p.Q605E	ARID1A_ENST00000374152.2_Missense_Mutation_p.Q222E|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q605E	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	605					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGAGCTATCTCAAGATTCATT	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1813-1815)CAA>GAA		AT rich interactive domain 1A isoform a							135.0	116.0	122.0					1																	27059176		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27059176C>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1813C>G	1.37:g.27059176C>G	ENSP00000320485:p.Gln605Glu					ARID1A_uc001bmt.1_Missense_Mutation_p.Q605E|ARID1A_uc001bmu.1_Missense_Mutation_p.Q605E|ARID1A_uc001bmw.1_Missense_Mutation_p.Q222E	p.Q605E	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	4	2186	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	605					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.1813C>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405443	0.62288	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.07114	3.65;3.22;3.43	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	M	0.62723	1.935	0.80722	D	1	D;D;D	0.58268	0.969;0.982;0.969	D;D;D	0.70227	0.93;0.968;0.93	T	0.00069	-1.2138	10	0.40728	T	0.16	-4.3201	19.8172	0.96573	0.0:1.0:0.0:0.0	.	605;605;259	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	E	605;605;222	ENSP00000320485:Q605E;ENSP00000387636:Q605E;ENSP00000363267:Q222E	ENSP00000320485:Q605E	Q	+	1	0	ARID1A	26931763	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.905000	0.75714	2.702000	0.92279	0.491000	0.48974	CAA		0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		12	73	0	0	0	0.010729	0	12	73		
C1orf94	84970	broad.mit.edu	37	1	34663196	34663196	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:34663196G>A	ENST00000488417.1	+	2	811	c.691G>A	c.(691-693)Gac>Aac	p.D231N	C1orf94_ENST00000373374.3_Missense_Mutation_p.D41N	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	231										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CATCCTAGGTGACTCCAACTT	0.542																																						uc001bxs.3		NaN																	0					0						c.(121-123)GAC>AAC		hypothetical protein LOC84970 isoform b							87.0	77.0	80.0					1																	34663196		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34663196G>A	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.691G>A	1.37:g.34663196G>A	ENSP00000435634:p.Asp231Asn					C1orf94_uc001bxt.2_Missense_Mutation_p.D231N	p.D41N	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			2	520	+		Myeloproliferative disorder(586;0.0393)	41					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.121G>A	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	G	3.667	-0.068309	0.07228	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.23348	1.91;1.91	4.98	3.05	0.35203	.	0.462873	0.20089	N	0.099492	T	0.12817	0.0311	N	0.08118	0	0.21147	N	0.999776	B	0.26195	0.144	B	0.30782	0.12	T	0.28618	-1.0038	10	0.27785	T	0.31	-0.4742	7.8714	0.29567	0.1746:0.0:0.8254:0.0	.	231	Q6P1W5	CA094_HUMAN	N	41;231	ENSP00000362472:D41N;ENSP00000435634:D231N	ENSP00000362472:D41N	D	+	1	0	C1orf94	34435783	0.801000	0.28930	0.197000	0.23402	0.056000	0.15407	1.142000	0.31540	0.472000	0.27344	0.563000	0.77884	GAC		0.542	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2		NM_032884		14	35	0	0	0	0.016723	0	14	35		
PPIE	10450	broad.mit.edu	37	1	40214744	40214744	+	Silent	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:40214744C>G	ENST00000324379.5	+	8	697	c.678C>G	c.(676-678)ctC>ctG	p.L226L	PPIE_ENST00000372830.1_Silent_p.L226L|PPIE_ENST00000356511.2_Silent_p.L226L|PPIE_ENST00000470213.1_Nonsense_Mutation_p.S185*	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	226	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTTTATCCTCAAGCATACGG	0.547																																						uc001cds.1		NaN																	0					0						c.(676-678)CTC>CTG		peptidylprolyl isomerase E isoform 1							83.0	80.0	81.0					1																	40214744		2203	4300	6503	SO:0001819	synonymous_variant	10450				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding	g.chr1:40214744C>G	AF042385	CCDS442.1, CCDS443.1, CCDS53299.1	1p32	2013-02-12			ENSG00000084072	ENSG00000084072		"""RNA binding motif (RRM) containing"""	9258	protein-coding gene	gene with protein product	"""peptidyl-prolyl cis-trans isomerase E"", ""cyclophilin 33"", ""cyclophilin E"", ""PPIase E"", ""rotamase E"", ""peptidylprolyl isomerase E, isoform 1"""	602435				9747881	Standard	NM_203456		Approved	CyP-33, MGC3736, MGC111222	uc001cdw.3	Q9UNP9	OTTHUMG00000009248	ENST00000324379.5:c.678C>G	1.37:g.40214744C>G						PPIE_uc001cdt.1_Silent_p.L160L|PPIE_uc010oiy.1_Silent_p.L147L|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Silent_p.L226L|PPIE_uc001cdw.2_Silent_p.L226L|PPIE_uc001cdx.1_Silent_p.L142L	p.L226L	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		8	721	+	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	226			PPIase cyclophilin-type.		B2R971|O43634|O43635|Q32Q72|Q3S611|Q5TGA0|Q5TGA2|Q5TGA3|Q9UIZ5	Silent	SNP	ENST00000324379.5	37	c.678C>G	CCDS443.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351479	0.24512	.	.	ENSG00000084072	ENST00000470213	.	.	.	4.87	0.425	0.16473	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.2884	2.8531	0.05564	0.3421:0.2301:0.3397:0.0881	.	.	.	.	X	185	.	ENSP00000431714:S185X	S	+	2	0	PPIE	39987331	0.913000	0.31002	1.000000	0.80357	0.386000	0.30323	-0.095000	0.11077	0.223000	0.20920	0.462000	0.41574	TCA		0.547	PPIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025642.2		NM_006112		16	70	0	0	0	0.008871	0	16	70		
TIE1	7075	broad.mit.edu	37	1	43778257	43778257	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:43778257C>A	ENST00000372476.3	+	12	1991	c.1912C>A	c.(1912-1914)Ctt>Att	p.L638I	TIE1_ENST00000433781.2_Missense_Mutation_p.L283I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	638	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCACACGTGCTTCTGCCCCC	0.657																																						uc001ciu.2		NaN																	0				lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1912-1914)CTT>ATT		tyrosine kinase with immunoglobulin-like and							34.0	34.0	34.0					1																	43778257		2200	4296	6496	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778257C>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1912C>A	1.37:g.43778257C>A	ENSP00000361554:p.Leu638Ile					TIE1_uc010okd.1_Missense_Mutation_p.L638I|TIE1_uc010oke.1_Missense_Mutation_p.L593I|TIE1_uc009vwq.2_Missense_Mutation_p.L594I|TIE1_uc010okf.1_Missense_Mutation_p.L283I|TIE1_uc010okg.1_Missense_Mutation_p.L283I	p.L638I	NM_005424	NP_005415	P35590	TIE1_HUMAN			12	1991	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	638			Extracellular (Potential).		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1912C>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	5.529	0.282520	0.10458	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000433781	T;T	0.53640	0.61;0.61	5.29	1.1	0.20463	Fibronectin, type III (2);	0.760949	0.10721	N	0.641764	T	0.35335	0.0928	L	0.47716	1.5	0.20307	N	0.999912	B;B;P;B;B	0.38440	0.023;0.013;0.631;0.013;0.013	B;B;B;B;B	0.38921	0.022;0.022;0.285;0.01;0.022	T	0.18745	-1.0327	10	0.29301	T	0.29	.	2.4038	0.04407	0.1553:0.5247:0.1507:0.1693	.	283;593;638;283;638	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	I	638;41;283	ENSP00000361554:L638I;ENSP00000411728:L283I	ENSP00000361553:L41I	L	+	1	0	TIE1	43550844	0.942000	0.31987	0.901000	0.35422	0.031000	0.12232	1.140000	0.31516	0.178000	0.19917	0.563000	0.77884	CTT		0.657	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1		NM_005424		24	29	1	0	2.44723e-14	0.024334	2.77353e-14	24	29		
MTF2	22823	broad.mit.edu	37	1	93581036	93581036	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:93581036G>A	ENST00000370298.4	+	6	782	c.493G>A	c.(493-495)Gca>Aca	p.A165T	MTF2_ENST00000540243.1_Missense_Mutation_p.A63T|MTF2_ENST00000370303.4_Missense_Mutation_p.A165T|MTF2_ENST00000545708.1_Missense_Mutation_p.A63T|MTF2_ENST00000471953.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	165					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GAGGGGTGGTGCACTTAAGAA	0.393																																						uc009wdj.2		NaN																	0				ovary(2)	2						c.(493-495)GCA>ACA		metal response element binding transcription							95.0	80.0	85.0					1																	93581036		2203	4300	6503	SO:0001583	missense	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93581036G>A	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.493G>A	1.37:g.93581036G>A	ENSP00000359321:p.Ala165Thr					MTF2_uc001dph.2_Missense_Mutation_p.A63T|MTF2_uc010oth.1_Missense_Mutation_p.A63T|MTF2_uc009wdk.2_Missense_Mutation_p.A165T|MTF2_uc001dpi.3_5'UTR|MTF2_uc010oti.1_Missense_Mutation_p.A63T|MTF2_uc001dpj.3_Missense_Mutation_p.A63T|MTF2_uc001dpl.3_Missense_Mutation_p.A63T	p.A165T	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	6	785	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	165					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	c.493G>A	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460895	0.84317	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953;ENST00000370303	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.37	5.37	0.77165	Zinc finger, FYVE/PHD-type (1);	0.095927	0.64402	N	0.000001	D	0.90082	0.6902	M	0.77616	2.38	0.58432	D	0.999999	P;P	0.50066	0.884;0.931	P;P	0.52031	0.465;0.688	D	0.90884	0.4756	10	0.62326	D	0.03	-1.5792	19.1075	0.93301	0.0:0.0:1.0:0.0	.	165;165	B1AKT6;Q9Y483	.;MTF2_HUMAN	T	63;63;165;63;165	ENSP00000444962:A63T;ENSP00000443295:A63T;ENSP00000359321:A165T;ENSP00000359326:A165T	ENSP00000359321:A165T	A	+	1	0	MTF2	93353624	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.526000	0.67116	2.502000	0.84385	0.655000	0.94253	GCA		0.393	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3		NM_007358		11	33	0	0	0	0.024245	0	11	33		
GNAI3	2773	broad.mit.edu	37	1	110128959	110128959	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:110128959G>A	ENST00000369851.4	+	6	822	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	238					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GGCTGAGGACGAGGAGATGGT	0.413																																						uc001dxz.2		NaN																	0				ovary(1)	1						c.(712-714)GAG>AAG		guanine nucleotide binding protein (G protein),							201.0	174.0	183.0					1																	110128959		2203	4300	6503	SO:0001583	missense	2773				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr1:110128959G>A	M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.712G>A	1.37:g.110128959G>A	ENSP00000358867:p.Glu238Lys						p.E238K	NM_006496	NP_006487	P08754	GNAI3_HUMAN		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)	6	869	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	238					P17539|Q5TZX1	Missense_Mutation	SNP	ENST00000369851.4	37	c.712G>A	CCDS802.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268420	0.80469	.	.	ENSG00000065135	ENST00000369851	D	0.88431	-2.38	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	L	0.42632	1.34	0.80722	D	1	B	0.26483	0.15	B	0.32583	0.148	D	0.83512	0.0081	10	0.66056	D	0.02	.	17.7282	0.88370	0.0:0.0:1.0:0.0	.	238	P08754	GNAI3_HUMAN	K	238	ENSP00000358867:E238K	ENSP00000358867:E238K	E	+	1	0	GNAI3	109930482	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.346000	0.79739	0.585000	0.79938	GAG		0.413	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1		NM_006496		41	112	0	0	0	0.007835	0	41	112		
PIP5K1A	8394	broad.mit.edu	37	1	151171506	151171506	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:151171506G>C	ENST00000368888.4	+	1	456	c.34G>C	c.(34-36)Gtc>Ctc	p.V12L	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.V12L|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.V12L|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.V12L	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	12					actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCGTCTTCGGTCGGTTTTTC	0.612																																					Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(34-36)GTC>CTC		phosphatidylinositol-4-phosphate 5-kinase, type							117.0	127.0	123.0					1																	151171506		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151171506G>C	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.34G>C	1.37:g.151171506G>C	ENSP00000357883:p.Val12Leu					PIP5K1A_uc001exi.2_Missense_Mutation_p.V12L|PIP5K1A_uc010pcu.1_Missense_Mutation_p.V12L|PIP5K1A_uc001exk.2_Missense_Mutation_p.V12L	p.V12L	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		1	486	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		12					A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.34G>C	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.727289	0.30593	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000424999;ENST00000368888	T;T;T;T;T	0.31247	1.72;1.73;1.5;1.52;1.73	4.46	3.52	0.40303	.	2.832150	0.01946	N	0.042253	T	0.08537	0.0212	N	0.22421	0.69	0.25132	N	0.990564	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.10450	0.005;0.005;0.002;0.005	T	0.16541	-1.0399	10	0.23891	T	0.37	.	7.483	0.27417	0.1248:0.0:0.8752:0.0	.	12;12;12;12	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	L	12	ENSP00000271663:V12L;ENSP00000386432:V12L;ENSP00000415648:V12L;ENSP00000357885:V12L;ENSP00000357883:V12L	ENSP00000271663:V12L	V	+	1	0	PIP5K1A	149438130	0.127000	0.22367	0.082000	0.20525	0.099000	0.18886	0.334000	0.19787	1.065000	0.40693	0.462000	0.41574	GTC		0.612	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2		NM_003557		44	342	0	0	0	0.010771	0	44	342		
NTRK1	4914	broad.mit.edu	37	1	156844786	156844786	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:156844786A>T	ENST00000524377.1	+	11	1381	c.1340A>T	c.(1339-1341)aAg>aTg	p.K447M	NTRK1_ENST00000358660.3_Missense_Mutation_p.K441M|NTRK1_ENST00000368196.3_Missense_Mutation_p.K441M|NTRK1_ENST00000392302.2_Missense_Mutation_p.K411M	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	447					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CGGAGAAACAAGTTTGGGATC	0.577			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1		NaN		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		0				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(1339-1341)AAG>ATG		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						126.0	116.0	119.0					1																	156844786		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156844786A>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1340A>T	1.37:g.156844786A>T	ENSP00000431418:p.Lys447Met	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Missense_Mutation_p.K411M|NTRK1_uc009wsi.1_Missense_Mutation_p.K146M|NTRK1_uc001fqi.1_Missense_Mutation_p.K441M|NTRK1_uc009wsk.1_Missense_Mutation_p.K441M	p.K447M	NM_002529	NP_002520	P04629	NTRK1_HUMAN			11	1396	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		447			Cytoplasmic (Potential).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1340A>T	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.668957	0.88348	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.79845	-1.27;-1.27;-1.31;-1.28	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000018	D	0.87943	0.6305	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.991;0.998;0.999	D	0.89947	0.4077	10	0.87932	D	0	.	14.5517	0.68070	1.0:0.0:0.0:0.0	.	441;441;447;411	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	M	411;441;447;441	ENSP00000376120:K411M;ENSP00000357179:K441M;ENSP00000431418:K447M;ENSP00000351486:K441M	ENSP00000351486:K441M	K	+	2	0	NTRK1	155111410	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.652000	0.91083	2.110000	0.64415	0.459000	0.35465	AAG		0.577	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1		NM_002529		36	155	0	0	0	0.017118	0	36	155		
FMO3	2328	broad.mit.edu	37	1	171086520	171086520	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:171086520C>T	ENST00000367755.4	+	9	1648	c.1537C>T	c.(1537-1539)Cat>Tat	p.H513Y	FMO3_ENST00000542847.1_Missense_Mutation_p.H493Y|FMO3_ENST00000538429.1_Missense_Mutation_p.H450Y|FMO3_ENST00000392085.2_Missense_Mutation_p.H513Y	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	513					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CTTCTTTTTCCATTGGCTGAA	0.458																																						uc001ghi.2		NaN																	0				skin(1)	1						c.(1537-1539)CAT>TAT		flavin containing monooxygenase 3							165.0	153.0	157.0					1																	171086520		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171086520C>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1537C>T	1.37:g.171086520C>T	ENSP00000356729:p.His513Tyr					FMO3_uc001ghh.2_Missense_Mutation_p.H513Y|FMO3_uc010pmb.1_Missense_Mutation_p.H493Y|FMO3_uc010pmc.1_Missense_Mutation_p.H450Y	p.H513Y	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			9	1648	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		513					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1537C>T	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.461646	0.01062	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.52295	0.67;0.67;0.71;0.99	4.55	0.0114	0.14087	.	1.803950	0.02406	N	0.081136	T	0.09642	0.0237	N	0.13168	0.305	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.002;0.004	T	0.14952	-1.0454	10	0.02654	T	1	1.6067	10.2658	0.43453	0.3567:0.5236:0.1197:0.0	.	450;493;513	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	Y	513;513;493;450	ENSP00000356729:H513Y;ENSP00000375935:H513Y;ENSP00000444073:H493Y;ENSP00000439500:H450Y	ENSP00000356729:H513Y	H	+	1	0	FMO3	169353144	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.754000	0.04787	0.123000	0.18342	-0.169000	0.13324	CAT		0.458	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1		NM_006894		62	50	0	0	0	0.01441	0	62	50		
TNR	7143	broad.mit.edu	37	1	175355234	175355234	+	Missense_Mutation	SNP	C	C	T	rs376305450		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:175355234C>T	ENST00000367674.2	-	8	2419	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	TNR_ENST00000263525.2_Missense_Mutation_p.E571K			Q92752	TENR_HUMAN	tenascin R	571	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACTGACACCTCGTATCGGGAG	0.637																																						uc001gkp.1		NaN																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1711-1713)GAG>AAG		tenascin R precursor		C	LYS/GLU	0,4406		0,0,2203	76.0	72.0	73.0		1711	1.3	0.1	1		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNR	NM_003285.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	571/1359	175355234	1,13005	2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175355234C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1711G>A	1.37:g.175355234C>T	ENSP00000356646:p.Glu571Lys					TNR_uc009wwu.1_Missense_Mutation_p.E571K	p.E571K	NM_003285	NP_003276	Q92752	TENR_HUMAN			6	1792	-	Renal(580;0.146)		571			Fibronectin type-III 3.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1711G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	9.059	0.994039	0.19043	0.0	1.16E-4	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.58210	0.35;0.35	5.58	1.29	0.21616	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.382592	0.28021	N	0.016920	T	0.36936	0.0985	L	0.53729	1.69	0.43084	D	0.994749	P	0.43094	0.799	B	0.37144	0.242	T	0.37361	-0.9709	10	0.07644	T	0.81	.	7.9812	0.30185	0.0:0.4925:0.3604:0.147	.	571	Q92752	TENR_HUMAN	K	571	ENSP00000356646:E571K;ENSP00000263525:E571K	ENSP00000263525:E571K	E	-	1	0	TNR	173621857	0.246000	0.23909	0.091000	0.20842	0.020000	0.10135	0.693000	0.25497	-0.023000	0.13963	-0.355000	0.07637	GAG		0.637	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4		NM_003285		14	206	0	0	0	0.016723	0	14	206		
SEC16B	89866	broad.mit.edu	37	1	177927476	177927476	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:177927476C>T	ENST00000308284.6	-	10	1245	c.1156G>A	c.(1156-1158)Gct>Act	p.A386T	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.A387T	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	386					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGCAGCTCAGCGATGTCAGAC	0.572																																						uc001gli.1		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(1156-1158)GCT>ACT		leucine zipper transcription regulator 2							45.0	47.0	46.0					1																	177927476		2020	4169	6189	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177927476C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1156G>A	1.37:g.177927476C>T	ENSP00000308339:p.Ala386Thr					SEC16B_uc001glk.1_Missense_Mutation_p.A63T|SEC16B_uc001glh.1_Missense_Mutation_p.A45T|SEC16B_uc009wwz.1_Missense_Mutation_p.A45T|SEC16B_uc001glj.1_Missense_Mutation_p.A387T|SEC16B_uc001gll.3_Missense_Mutation_p.A387T	p.A386T	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			10	1246	-			386					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.1156G>A	CCDS44281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.603940|4.603940	0.87157|0.87157	.|.	.|.	ENSG00000120341|ENSG00000120341	ENST00000308284;ENST00000239472;ENST00000464631|ENST00000527976	T;T|.	0.62232|.	1.57;0.04|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.56202|0.56202	0.1969|0.1969	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999994|0.999994	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.998;0.998;0.987;0.998|.	T|T	0.51942|0.51942	-0.8641|-0.8641	10|5	0.62326|.	D|.	0.03|.	-16.176|-16.176	18.1775|18.1775	0.89766|0.89766	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	387;387;386;83|.	E9PK14;B1AM08;Q96JE7;Q96PW0|.	.;.;SC16B_HUMAN;.|.	T|H	386;101;387|29	ENSP00000308339:A386T;ENSP00000431727:A387T|.	ENSP00000239472:A101T|.	A|R	-|-	1|2	0|0	AL359075.1|AL359075.1	176194099|176194099	1.000000|1.000000	0.71417|0.71417	0.681000|0.681000	0.30009|0.30009	0.853000|0.853000	0.48598|0.48598	5.856000|5.856000	0.69518|0.69518	2.461000|2.461000	0.83175|0.83175	0.643000|0.643000	0.83706|0.83706	GCT|CGC		0.572	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16		NM_033127		9	100	0	0	0	0.004482	0	9	100		
LAMC1	3915	broad.mit.edu	37	1	183087279	183087279	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:183087279G>C	ENST00000258341.4	+	11	2245	c.1988G>C	c.(1987-1989)aGa>aCa	p.R663T		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	663	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R663I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TACAGTGAGAGAAGTAAGTTA	0.353																																						uc001gpy.3		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|large_intestine(1)|kidney(1)	5						c.(1987-1989)AGA>ACA		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						80.0	84.0	83.0					1																	183087279		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183087279G>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1988G>C	1.37:g.183087279G>C	ENSP00000258341:p.Arg663Thr						p.R663T	NM_002293	NP_002284	P11047	LAMC1_HUMAN			11	2245	+			663			Laminin IV type A.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.1988G>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982047	0.74474	.	.	ENSG00000135862	ENST00000258341	T	0.36157	1.27	5.0	5.0	0.66597	Laminin B type IV (2);Laminin B, subgroup (1);	0.050042	0.85682	D	0.000000	T	0.48429	0.1499	L	0.36672	1.1	0.58432	D	0.999998	D	0.59767	0.986	P	0.62184	0.899	T	0.37709	-0.9694	10	0.35671	T	0.21	.	18.3307	0.90268	0.0:0.0:1.0:0.0	.	663	P11047	LAMC1_HUMAN	T	663	ENSP00000258341:R663T	ENSP00000258341:R663T	R	+	2	0	LAMC1	181353902	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.999000	0.49473	2.317000	0.78254	0.650000	0.86243	AGA		0.353	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2		NM_002293		11	41	0	0	0	0.008291	0	11	41		
PLXNA2	5362	broad.mit.edu	37	1	208234158	208234158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:208234158C>A	ENST00000367033.3	-	13	3368	c.2611G>T	c.(2611-2613)Gaa>Taa	p.E871*		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	871	IPT/TIG 1.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTCCCTCCTTCCGGCGGTCCA	0.602																																						uc001hgz.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2611-2613)GAA>TAA		plexin A2 precursor							55.0	51.0	52.0					1																	208234158		2203	4300	6503	SO:0001587	stop_gained	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208234158C>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2611G>T	1.37:g.208234158C>A	ENSP00000356000:p.Glu871*						p.E871*	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	13	3369	-			871			Extracellular (Potential).|IPT/TIG 1.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Nonsense_Mutation	SNP	ENST00000367033.3	37	c.2611G>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	48	14.025310	0.99775	.	.	ENSG00000076356	ENST00000367033	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7722	0.88496	0.0:1.0:0.0:0.0	.	.	.	.	X	871	.	ENSP00000356000:E871X	E	-	1	0	PLXNA2	206300781	1.000000	0.71417	0.951000	0.38953	0.887000	0.51463	7.503000	0.81632	2.200000	0.70718	0.655000	0.94253	GAA		0.602	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6		NM_025179		18	29	1	0	0.00887093	0.008871	0.00911464	18	29		
RGS7	6000	broad.mit.edu	37	1	240966262	240966262	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:240966262G>A	ENST00000407727.1	-	15	1300	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	RGS7_ENST00000366563.1_Missense_Mutation_p.S434L|RGS7_ENST00000446183.2_Missense_Mutation_p.S350L|RGS7_ENST00000366562.4_Missense_Mutation_p.S434L|RGS7_ENST00000348120.2_Missense_Mutation_p.S381L|RGS7_ENST00000366564.1_Missense_Mutation_p.S434L|RGS7_ENST00000401882.1_Missense_Mutation_p.S381L|RGS7_ENST00000331110.7_Missense_Mutation_p.S408L|RGS7_ENST00000366565.1_Missense_Mutation_p.S434L			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	434	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			ACGTGGGTATGAATCACTTTT	0.358																																						uc001hyv.2		NaN																	0				ovary(4)|skin(2)|kidney(1)	7						c.(1300-1302)TCA>TTA		regulator of G-protein signaling 7							139.0	147.0	144.0					1																	240966262		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240966262G>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1301C>T	1.37:g.240966262G>A	ENSP00000384428:p.Ser434Leu					RGS7_uc010pyh.1_Missense_Mutation_p.S408L|RGS7_uc010pyj.1_Missense_Mutation_p.S350L|RGS7_uc001hyu.2_Missense_Mutation_p.S434L|RGS7_uc009xgn.1_Missense_Mutation_p.S381L|RGS7_uc001hyw.2_Missense_Mutation_p.S434L|RGS7_uc001hyt.2_Missense_Mutation_p.S266L	p.S434L	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		16	1631	-		all_cancers(173;0.0131)	434			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.1301C>T		.	.	.	.	.	.	.	.	.	.	G	22.8	4.331933	0.81801	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	6.04	6.04	0.98038	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.178941	0.50627	D	0.000101	T	0.69815	0.3153	M	0.93594	3.435	0.54753	D	0.999982	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.76924	-0.2779	10	0.87932	D	0	.	15.1048	0.72312	0.0:0.1409:0.8591:0.0	.	350;408;381;434;434;434;434	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	L	408;434;434;434;265;381;350;434;434;381	ENSP00000331485:S408L;ENSP00000355523:S434L;ENSP00000355522:S434L;ENSP00000355521:S434L;ENSP00000404399:S265L;ENSP00000341242:S381L;ENSP00000390138:S350L;ENSP00000355520:S434L;ENSP00000384428:S434L;ENSP00000385508:S381L	ENSP00000331485:S408L	S	-	2	0	RGS7	239032885	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.472000	0.66768	2.873000	0.98535	0.563000	0.77884	TCA		0.358	RGS7-204	KNOWN	basic	protein_coding	protein_coding			NM_002924		23	94	0	0	0	0.016522	0	23	94		
OR14C36	127066	broad.mit.edu	37	1	248512486	248512486	+	Missense_Mutation	SNP	G	G	C	rs142744958	byFrequency	TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:248512486G>C	ENST00000317861.1	+	1	410	c.410G>C	c.(409-411)cGa>cCa	p.R137P		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R137Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GTGAACTCTCGAATCTGCATC	0.512																																						uc010pzl.1		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(409-411)CGA>CCA		olfactory receptor, family 14, subfamily C,							102.0	89.0	93.0					1																	248512486		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512486G>C	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.410G>C	1.37:g.248512486G>C	ENSP00000324534:p.Arg137Pro						p.R137P	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	410	+			137			Cytoplasmic (Potential).		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.410G>C	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602313	0.28534	.	.	ENSG00000177174	ENST00000317861	T	0.43294	0.95	4.05	-7.98	0.01135	GPCR, rhodopsin-like superfamily (1);	1.246200	0.06113	N	0.667560	T	0.55924	0.1951	L	0.58428	1.81	0.09310	N	1	D	0.62365	0.991	D	0.66847	0.947	T	0.65874	-0.6062	10	0.56958	D	0.05	.	15.1326	0.72536	0.4061:0.0:0.5939:0.0	.	137	Q8NHC7	O14CZ_HUMAN	P	137	ENSP00000324534:R137P	ENSP00000324534:R137P	R	+	2	0	OR14C36	246579109	0.000000	0.05858	0.000000	0.03702	0.680000	0.39746	-0.386000	0.07370	-1.700000	0.01414	-0.531000	0.04308	CGA		0.512	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1		NM_001001918		12	102	0	0	0	0.016723	0	12	102		
OR2T3	343173	broad.mit.edu	37	1	248637272	248637272	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:248637272C>T	ENST00000359594.2	+	1	646	c.621C>T	c.(619-621)tgC>tgT	p.C207C		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C207*(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACCTGTGCTGCATCCTCA	0.537																																						uc001iel.1		NaN																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(619-621)TGC>TGT		olfactory receptor, family 2, subfamily T,							213.0	170.0	184.0					1																	248637272		2136	4218	6354	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637272C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.621C>T	1.37:g.248637272C>T							p.C207C	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	621	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		207			Helical; Name=5; (Potential).		B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.621C>T	CCDS31117.1																																																																																				0.537	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1		NM_001005495		276	140	0	0	0	0.01441	0	276	140		
PALD1	27143	broad.mit.edu	37	10	72300920	72300920	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr10:72300920C>T	ENST00000263563.6	+	16	2239	c.1971C>T	c.(1969-1971)ttC>ttT	p.F657F		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	657						cytosol (GO:0005829)											GCACTGGCTTCGTGTTCAGCT	0.632																																						uc001jrd.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1969-1971)TTC>TTT		KIAA1274							60.0	67.0	64.0					10																	72300920		2203	4300	6503	SO:0001819	synonymous_variant	27143							g.chr10:72300920C>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1971C>T	10.37:g.72300920C>T						KIAA1274_uc001jre.3_5'UTR	p.F657F	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN			16	2252	+			657					B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	c.1971C>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	c	10.05	1.245405	0.22796	.	.	ENSG00000107719	ENST00000426268	.	.	.	3.52	-1.82	0.07857	.	.	.	.	.	T	0.49932	0.1586	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40478	-0.9561	4	.	.	.	-2.9468	5.9186	0.19070	0.0:0.2404:0.1534:0.6062	.	.	.	.	C	38	.	.	R	+	1	0	KIAA1274	71970926	0.001000	0.12720	0.984000	0.44739	0.932000	0.56968	-1.866000	0.01647	-0.300000	0.08895	0.435000	0.28638	CGT		0.632	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2		NM_014431		13	49	0	0	0	0.013537	0	13	49		
OR52B2	255725	broad.mit.edu	37	11	6191265	6191265	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:6191265C>T	ENST00000530810.1	-	1	373	c.292G>A	c.(292-294)Gcc>Acc	p.A98T	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGACACAGGCATCAAAAGCA	0.517																																					NSCLC(5;186 261 1778 7098 14207)	uc010qzy.1		NaN																	0					0						c.(292-294)GCC>ACC		olfactory receptor, family 52, subfamily B,							137.0	139.0	138.0					11																	6191265		2163	4279	6442	SO:0001583	missense	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6191265C>T	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.292G>A	11.37:g.6191265C>T	ENSP00000432011:p.Ala98Thr						p.A98T	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	292	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	98			Extracellular (Potential).		Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	c.292G>A	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307990	0.81247	.	.	ENSG00000255307	ENST00000530810	T	0.03065	4.06	5.02	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12561	0.0305	L	0.47190	1.495	0.32399	N	0.552151	D	0.89917	1.0	D	0.83275	0.996	T	0.03240	-1.1057	9	0.59425	D	0.04	.	12.7714	0.57423	0.0:0.9215:0.0:0.0785	.	98	Q96RD2	O52B2_HUMAN	T	98	ENSP00000432011:A98T	ENSP00000432011:A98T	A	-	1	0	OR52B2	6147841	0.005000	0.15991	1.000000	0.80357	0.937000	0.57800	1.517000	0.35867	1.345000	0.45676	0.643000	0.83706	GCC		0.517	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1		NM_001004052		18	71	0	0	0	0.006122	0	18	71		
FAM160A2	84067	broad.mit.edu	37	11	6243787	6243787	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:6243787C>T	ENST00000449352.2	-	6	1339	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	FAM160A2_ENST00000265978.4_Missense_Mutation_p.R359Q|FAM160A2_ENST00000524416.1_Missense_Mutation_p.R359Q			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	359					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAGATACTCCGTAGGAAAAG	0.527																																						uc001mcl.3		NaN																	0				skin(2)	2						c.(1075-1077)CGG>CAG		hypothetical protein LOC84067 isoform 2							147.0	124.0	132.0					11																	6243787		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6243787C>T		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1076G>A	11.37:g.6243787C>T	ENSP00000416918:p.Arg359Gln					FAM160A2_uc001mck.3_Missense_Mutation_p.R359Q|FAM160A2_uc001mcm.2_Missense_Mutation_p.R359Q	p.R359Q	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN			6	1435	-			359					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.1076G>A	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	35	5.429914	0.96131	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.33216	1.42;1.42;1.42	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.88310	2.945	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.996	T	0.67197	-0.5731	10	0.45353	T	0.12	-35.0761	18.1868	0.89796	0.0:1.0:0.0:0.0	.	359;359;359	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	Q	359;284;359;359	ENSP00000416918:R359Q;ENSP00000265978:R359Q;ENSP00000431773:R359Q	ENSP00000265978:R359Q	R	-	2	0	FAM160A2	6200363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.685000	0.84117	2.620000	0.88729	0.561000	0.74099	CGG		0.527	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1		NM_032127		17	37	0	0	0	0.010504	0	17	37		
KCNA4	3739	broad.mit.edu	37	11	30033452	30033452	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:30033452G>C	ENST00000328224.6	-	2	2007	c.774C>G	c.(772-774)ttC>ttG	p.F258L	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	258					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCAACTGATAGAACTTCACCT	0.507																																						uc001msk.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(772-774)TTC>TTG		potassium voltage-gated channel, shaker-related							84.0	76.0	79.0					11																	30033452		1876	4132	6008	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033452G>C	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.774C>G	11.37:g.30033452G>C	ENSP00000328511:p.Phe258Leu						p.F258L	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1926	-			258						Missense_Mutation	SNP	ENST00000328224.6	37	c.774C>G	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301418	0.60195	.	.	ENSG00000182255	ENST00000328224	D	0.82893	-1.66	5.05	4.14	0.48551	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.92528	0.7627	H	0.95187	3.635	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	D	0.92973	0.6399	10	0.87932	D	0	.	9.7902	0.40702	0.1569:0.0:0.8431:0.0	.	258	P22459	KCNA4_HUMAN	L	258	ENSP00000328511:F258L	ENSP00000328511:F258L	F	-	3	2	KCNA4	29990028	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.779000	0.47734	1.137000	0.42214	-0.140000	0.14226	TTC		0.507	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2		NM_002233		19	59	0	0	0	0.012319	0	19	59		
ESRRA	2101	broad.mit.edu	37	11	64082320	64082320	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:64082320A>G	ENST00000405666.1	+	5	913	c.679A>G	c.(679-681)Acc>Gcc	p.T227A	ESRRA_ENST00000406310.1_Missense_Mutation_p.T226A|ESRRA_ENST00000000442.6_Missense_Mutation_p.T227A	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	227	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						AGCCGTGGCTACCCTCTGTGA	0.612																																						uc001nzq.1		NaN																	0					0						c.(679-681)ACC>GCC		estrogen-related receptor alpha							51.0	51.0	51.0					11																	64082320		2029	4215	6244	SO:0001583	missense	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64082320A>G	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.679A>G	11.37:g.64082320A>G	ENSP00000384851:p.Thr227Ala					ESRRA_uc001nzr.1_Missense_Mutation_p.T226A|ESRRA_uc001nzs.1_Missense_Mutation_p.T227A|ESRRA_uc009ypn.1_Intron	p.T227A	NM_004451	NP_004442	P11474	ERR1_HUMAN			5	856	+			227			Ligand binding domain.		Q14514	Missense_Mutation	SNP	ENST00000405666.1	37	c.679A>G	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.246596	0.39697	.	.	ENSG00000173153	ENST00000406310;ENST00000000442;ENST00000539594;ENST00000405666	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	3.99	3.99	0.46301	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.96463	0.8846	L	0.49571	1.57	0.58432	D	0.999999	B;D	0.59357	0.005;0.985	B;D	0.63488	0.024;0.915	D	0.95624	0.8683	10	0.44086	T	0.13	.	11.1863	0.48657	1.0:0.0:0.0:0.0	.	226;227	P11474-2;P11474	.;ERR1_HUMAN	A	226;227;84;227	ENSP00000385971:T226A;ENSP00000000442:T227A;ENSP00000439896:T84A;ENSP00000384851:T227A	ENSP00000000442:T227A	T	+	1	0	ESRRA	63838896	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.913000	0.69957	1.811000	0.52892	0.379000	0.24179	ACC		0.612	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1		NM_004451		12	21	0	0	0	0.013537	0	12	21		
TM7SF2	7108	broad.mit.edu	37	11	64882277	64882277	+	Silent	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:64882277C>G	ENST00000279263.7	+	6	858	c.696C>G	c.(694-696)ctC>ctG	p.L232L	AP003068.12_ENST00000527789.1_RNA|TM7SF2_ENST00000345348.5_Silent_p.L232L|TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000540748.1_Silent_p.L116L	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	232					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCAGTTGCTCTACGTGGGTG	0.607																																						uc001oct.2		NaN																	0				ovary(1)	1						c.(694-696)CTC>CTG		transmembrane 7 superfamily member 2							96.0	113.0	107.0					11																	64882277		2165	4249	6414	SO:0001819	synonymous_variant	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64882277C>G	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.696C>G	11.37:g.64882277C>G						TM7SF2_uc010rny.1_Silent_p.L116L|TM7SF2_uc001ocu.2_Silent_p.L232L|TM7SF2_uc001ocv.2_Silent_p.L253L|uc009yqb.1_5'Flank	p.L232L	NM_003273	NP_003264	O76062	ERG24_HUMAN			6	843	+			232					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	c.696C>G	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616022	0.28801	.	.	ENSG00000149809	ENST00000528802	.	.	.	5.23	-0.286	0.12862	.	.	.	.	.	T	0.65015	0.2651	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60811	-0.7189	4	.	.	.	-8.0249	12.6838	0.56936	0.1195:0.2805:0.6:0.0	.	.	.	.	C	60	.	.	S	+	2	0	TM7SF2	64638853	0.126000	0.22350	0.963000	0.40424	0.983000	0.72400	-0.792000	0.04594	-0.202000	0.10268	0.561000	0.74099	TCT		0.607	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1		NM_003273		10	66	0	0	0	0.010729	0	10	66		
ZNHIT2	741	broad.mit.edu	37	11	64884048	64884048	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:64884048C>T	ENST00000310597.4	-	1	1122	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	360							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CTGGCGCAGTCTAGGGCCAGG	0.647																																						uc001ocw.2		NaN																	0				breast(1)	1						c.(1078-1080)GAC>AAC		zinc finger, HIT domain containing 2							43.0	44.0	43.0					11																	64884048		2201	4297	6498	SO:0001583	missense	741						metal ion binding	g.chr11:64884048C>T		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"""Zinc fingers, HIT-type"""	1177	protein-coding gene	gene with protein product		604575	"""chromosome 11 open reading frame 5"", ""zinc finger, HIT domain containing 2"""	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.1078G>A	11.37:g.64884048C>T	ENSP00000308548:p.Asp360Asn					uc009yqb.1_5'UTR	p.D360N	NM_014205	NP_055020	Q9UHR6	ZNHI2_HUMAN			1	1123	-			360					Q3SY14|Q8IUV0	Missense_Mutation	SNP	ENST00000310597.4	37	c.1078G>A	CCDS8094.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447192	0.25987	.	.	ENSG00000174276	ENST00000310597	T	0.31769	1.48	4.79	3.84	0.44239	.	0.451712	0.22464	U	0.059712	T	0.22003	0.0530	N	0.24115	0.695	0.20307	N	0.999919	B	0.29531	0.247	B	0.33568	0.166	T	0.17107	-1.0380	10	0.22109	T	0.4	-19.2919	12.3985	0.55399	0.0:0.8289:0.1711:0.0	.	360	Q9UHR6	ZNHI2_HUMAN	N	360	ENSP00000308548:D360N	ENSP00000308548:D360N	D	-	1	0	ZNHIT2	64640624	0.787000	0.28750	0.103000	0.21229	0.087000	0.18053	1.971000	0.40530	1.168000	0.42723	0.561000	0.74099	GAC		0.647	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1		NM_014205		15	64	0	0	0	0.020292	0	15	64		
ZNHIT2	741	broad.mit.edu	37	11	64884237	64884237	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:64884237C>A	ENST00000310597.4	-	1	933	c.889G>T	c.(889-891)Gag>Tag	p.E297*	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	297							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GTCGGGCCCTCGCCCAGCAGG	0.711																																						uc001ocw.2		NaN																	0				breast(1)	1						c.(889-891)GAG>TAG		zinc finger, HIT domain containing 2							28.0	30.0	29.0					11																	64884237		2201	4296	6497	SO:0001587	stop_gained	741						metal ion binding	g.chr11:64884237C>A		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"""Zinc fingers, HIT-type"""	1177	protein-coding gene	gene with protein product		604575	"""chromosome 11 open reading frame 5"", ""zinc finger, HIT domain containing 2"""	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.889G>T	11.37:g.64884237C>A	ENSP00000308548:p.Glu297*					uc009yqb.1_Silent_p.L36L	p.E297*	NM_014205	NP_055020	Q9UHR6	ZNHI2_HUMAN			1	934	-			297					Q3SY14|Q8IUV0	Nonsense_Mutation	SNP	ENST00000310597.4	37	c.889G>T	CCDS8094.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961985	0.34659	.	.	ENSG00000174276	ENST00000310597;ENST00000528598	.	.	.	4.67	3.72	0.42706	.	0.292816	0.28859	U	0.013910	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-13.0341	12.2119	0.54383	0.0:0.8263:0.1737:0.0	.	.	.	.	X	297;132	.	ENSP00000308548:E297X	E	-	1	0	ZNHIT2	64640813	0.173000	0.23056	0.633000	0.29310	0.012000	0.07955	0.474000	0.22148	1.123000	0.41961	0.561000	0.74099	GAG		0.711	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1		NM_014205		13	44	1	0	1.5842e-08	0.016723	1.70256e-08	13	44		
CEP164	22897	broad.mit.edu	37	11	117266864	117266864	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:117266864C>T	ENST00000278935.3	+	25	3331	c.3184C>T	c.(3184-3186)Cat>Tat	p.H1062Y	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1062					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GCCAGATCTCCATATTGAGGA	0.572																																						uc001prc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3184-3186)CAT>TAT		centrosomal protein 164kDa							98.0	105.0	103.0					11																	117266864		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117266864C>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3184C>T	11.37:g.117266864C>T	ENSP00000278935:p.His1062Tyr					CEP164_uc001prb.2_Missense_Mutation_p.H1065Y|CEP164_uc010rxk.1_Missense_Mutation_p.H1036Y|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.H495Y	p.H1062Y	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	25	3331	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1062					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.3184C>T	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	C	5.916	0.353032	0.11182	.	.	ENSG00000110274	ENST00000278935;ENST00000529538	T	0.25250	1.81	5.15	3.26	0.37387	.	0.383969	0.22408	N	0.060450	T	0.24084	0.0583	M	0.61703	1.905	0.09310	N	1	B;B;B;B	0.11235	0.002;0.004;0.004;0.004	B;B;B;B	0.12156	0.003;0.007;0.007;0.007	T	0.25641	-1.0126	10	0.59425	D	0.04	-0.8999	5.7777	0.18289	0.156:0.6782:0.0:0.1658	.	1036;836;1062;1065	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	Y	1062;1036	ENSP00000278935:H1062Y	ENSP00000278935:H1062Y	H	+	1	0	CEP164	116772074	0.463000	0.25799	0.014000	0.15608	0.082000	0.17680	1.696000	0.37773	0.554000	0.29061	0.591000	0.81541	CAT		0.572	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1		NM_014956		29	110	0	0	0	0.008361	0	29	110		
IL10RA	3587	broad.mit.edu	37	11	117864081	117864081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:117864081C>T	ENST00000227752.3	+	4	613	c.493C>T	c.(493-495)Cga>Tga	p.R165*	IL10RA_ENST00000545409.1_Nonsense_Mutation_p.R16*|IL10RA_ENST00000541785.1_Nonsense_Mutation_p.R145*|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	165					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CAGTCACTTCCGAGAGTATGA	0.557																																						uc001prv.2		NaN																	0				ovary(1)	1						c.(493-495)CGA>TGA		interleukin 10 receptor, alpha precursor							94.0	84.0	87.0					11																	117864081		2200	4296	6496	SO:0001587	stop_gained	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117864081C>T	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.493C>T	11.37:g.117864081C>T	ENSP00000227752:p.Arg165*					IL10RA_uc010rxl.1_Nonsense_Mutation_p.R145*|IL10RA_uc010rxm.1_Nonsense_Mutation_p.R145*|IL10RA_uc010rxn.1_Nonsense_Mutation_p.R16*|IL10RA_uc001prw.2_Nonsense_Mutation_p.R16*	p.R165*	NM_001558	NP_001549	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	4	570	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	165			Extracellular (Potential).		A8K6I0|B0YJ27	Nonsense_Mutation	SNP	ENST00000227752.3	37	c.493C>T	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	C	38	6.652989	0.97734	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	.	.	.	5.73	5.73	0.89815	.	0.322553	0.30611	N	0.009246	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.1779	15.3949	0.74784	0.0:1.0:0.0:0.0	.	.	.	.	X	165;145;16;145	.	ENSP00000227752:R165X	R	+	1	2	IL10RA	117369291	1.000000	0.71417	0.874000	0.34290	0.993000	0.82548	3.542000	0.53625	2.699000	0.92147	0.655000	0.94253	CGA		0.557	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1				13	56	0	0	0	0.013537	0	13	56		
OR10S1	219873	broad.mit.edu	37	11	123848028	123848028	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:123848028G>A	ENST00000531945.1	-	1	460	c.371C>T	c.(370-372)aCt>aTt	p.T124I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAAGCACTCAGTGCTGGCCAG	0.542																																						uc001pzm.1		NaN																	0				ovary(1)|skin(1)	2						c.(370-372)ACT>ATT		olfactory receptor, family 10, subfamily S,							97.0	77.0	84.0					11																	123848028		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123848028G>A	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.371C>T	11.37:g.123848028G>A	ENSP00000431914:p.Thr124Ile						p.T124I	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	371	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	124			Helical; Name=3; (Potential).		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.371C>T	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419924	0.42918	.	.	ENSG00000196248	ENST00000531945	T	0.05139	3.49	4.74	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	U	0.000634	T	0.09113	0.0225	M	0.70108	2.13	0.09310	N	1	B	0.20780	0.048	B	0.18561	0.022	T	0.10497	-1.0627	10	0.46703	T	0.11	-16.1294	8.6545	0.34055	0.1702:0.0:0.8298:0.0	.	124	Q8NGN2	O10S1_HUMAN	I	124	ENSP00000431914:T124I	ENSP00000431914:T124I	T	-	2	0	OR10S1	123353238	0.000000	0.05858	0.922000	0.36590	0.965000	0.64279	0.345000	0.19979	2.496000	0.84212	0.573000	0.79308	ACT		0.542	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2		NM_001004474		8	23	0	0	0	0.004482	0	8	23		
EPS8	2059	broad.mit.edu	37	12	15807190	15807190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:15807190G>T	ENST00000281172.5	-	13	1575	c.1139C>A	c.(1138-1140)tCa>tAa	p.S380*	EPS8_ENST00000543612.1_Nonsense_Mutation_p.S380*|EPS8_ENST00000543523.1_Nonsense_Mutation_p.S380*|EPS8_ENST00000542903.1_Nonsense_Mutation_p.S120*|EPS8_ENST00000540613.1_Nonsense_Mutation_p.S120*	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	380					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		ACTAAGTACTGAACTGGCTAG	0.383																																						uc009zif.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1138-1140)TCA>TAA		epidermal growth factor receptor pathway							100.0	88.0	92.0					12																	15807190		2203	4300	6503	SO:0001587	stop_gained	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15807190G>T	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1139C>A	12.37:g.15807190G>T	ENSP00000281172:p.Ser380*					EPS8_uc001rdb.2_Nonsense_Mutation_p.S380*|EPS8_uc009zig.2_Nonsense_Mutation_p.S120*|EPS8_uc010shv.1_Nonsense_Mutation_p.S120*	p.S380*	NM_004447	NP_004438	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	13	1233	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	380					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Nonsense_Mutation	SNP	ENST00000281172.5	37	c.1139C>A	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	G	41	8.593689	0.98877	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	.	.	.	4.82	3.91	0.45181	.	0.185421	0.45361	D	0.000378	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9458	14.696	0.69121	0.0:0.0:0.8536:0.1463	.	.	.	.	X	380;380;380;120;120;380	.	ENSP00000281172:S380X	S	-	2	0	EPS8	15698457	0.984000	0.35163	0.982000	0.44146	0.961000	0.63080	4.508000	0.60441	1.329000	0.45376	0.591000	0.81541	TCA		0.383	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1				15	68	1	0	2.61681e-11	0.020292	2.86166e-11	15	68		
ARID2	196528	broad.mit.edu	37	12	46243818	46243818	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:46243818G>A	ENST00000334344.6	+	15	2084		c.e15-1		ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000422737.1_Splice_Site|ARID2_ENST00000444670.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATATTTTCAGGAATCCCTCA	0.333			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NaN		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.e15-1		AT rich interactive domain 2 (ARID, RFX-like)							60.0	57.0	58.0					12																	46243818		2203	4300	6503	SO:0001630	splice_region_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46243818G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1913-1G>A	12.37:g.46243818G>A						ARID2_uc001ror.2_Splice_Site_p.G638_splice|ARID2_uc009zkg.1_Splice_Site_p.G94_splice|ARID2_uc009zkh.1_Splice_Site_p.G265_splice|ARID2_uc001rou.1_5'Flank	p.G638_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	1913	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)						Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Splice_Site	SNP	ENST00000334344.6	37	c.1913_splice	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348451	0.61183	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8045	0.96525	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARID2	44530085	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.159000	0.77483	2.676000	0.91093	0.655000	0.94253	.		0.333	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		XM_350875	Intron	33	53	0	0	0	0.010818	0	33	53		
SLC38A2	54407	broad.mit.edu	37	12	46765027	46765027	+	Missense_Mutation	SNP	C	C	T	rs533959610		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:46765027C>T	ENST00000256689.5	-	2	494	c.50G>A	c.(49-51)aGc>aAc	p.S17N	SLC38A2_ENST00000547252.1_5'UTR|RP11-474P2.2_ENST00000550319.1_RNA	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	17	Regulates protein turnover upon amino acid deprivation. {ECO:0000250}.				amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GTAGCTGCTGCTGTCTTCATC	0.512																																					Ovarian(9;448 492 8335 28722 40361)	uc001rpg.2		NaN																	0				urinary_tract(1)|skin(1)	2						c.(49-51)AGC>AAC		solute carrier family 38, member 2							211.0	202.0	205.0					12																	46765027		2203	4300	6503	SO:0001583	missense	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46765027C>T	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.50G>A	12.37:g.46765027C>T	ENSP00000256689:p.Ser17Asn					SLC38A2_uc001rph.2_5'UTR	p.S17N	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	2	490	-	Lung SC(27;0.192)|Renal(347;0.236)		17			Cytoplasmic (Potential).|Regulates protein turnover upon amino acid deprivation (By similarity).		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	ENST00000256689.5	37	c.50G>A	CCDS8749.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269227	0.95429	.	.	ENSG00000134294	ENST00000256689	T	0.63580	-0.05	5.29	5.29	0.74685	.	0.040320	0.85682	D	0.000000	T	0.77343	0.4116	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.74297	-0.3711	10	0.27082	T	0.32	-11.5167	17.11	0.86673	0.0:1.0:0.0:0.0	.	17	Q96QD8	S38A2_HUMAN	N	17	ENSP00000256689:S17N	ENSP00000256689:S17N	S	-	2	0	SLC38A2	45051294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.106000	0.71511	2.467000	0.83353	0.650000	0.86243	AGC		0.512	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1				33	121	0	0	0	0.015359	0	33	121		
KRT73	319101	broad.mit.edu	37	12	53012246	53012246	+	Silent	SNP	G	G	A	rs531582563		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:53012246G>A	ENST00000305748.3	-	1	97	c.63C>T	c.(61-63)tcC>tcT	p.S21S		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	21	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.S21S(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCACAGCGGAGCAGCCGC	0.642																																						uc001sas.2		NaN																	2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)	6						c.(61-63)TCC>TCT		keratin 73							38.0	45.0	43.0					12																	53012246		2203	4298	6501	SO:0001819	synonymous_variant	319101					keratin filament	structural molecule activity	g.chr12:53012246G>A	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.63C>T	12.37:g.53012246G>A							p.S21S	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	98	-			21			Head.|Gly-rich.		Q32MB2	Silent	SNP	ENST00000305748.3	37	c.63C>T	CCDS8834.1																																																																																				0.642	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1		NM_175068		26	52	0	0	0	0.009535	0	26	52		
HOXC8	3224	broad.mit.edu	37	12	54405067	54405067	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:54405067G>A	ENST00000040584.4	+	2	868	c.631G>A	c.(631-633)Gat>Aat	p.D211N	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	211					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						GAACAACAAGGATAAACTGCC	0.488																																					GBM(197;701 2226 7002 18822 41696)	uc001ser.2		NaN																	0				ovary(1)	1						c.(631-633)GAT>AAT		homeobox C8							79.0	86.0	84.0					12																	54405067		2203	4300	6503	SO:0001583	missense	3224					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54405067G>A	X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"""Homeoboxes / ANTP class : HOXL subclass"""	5129	protein-coding gene	gene with protein product		142970	"""homeo box C8"""	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.631G>A	12.37:g.54405067G>A	ENSP00000040584:p.Asp211Asn						p.D211N	NM_022658	NP_073149	P31273	HXC8_HUMAN			2	810	+			211					A8K4J4|O15221|O15362	Missense_Mutation	SNP	ENST00000040584.4	37	c.631G>A	CCDS8870.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945975	0.92593	.	.	ENSG00000037965	ENST00000040584	D	0.90900	-2.75	5.16	5.16	0.70880	Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.89339	0.6687	N	0.19112	0.55	0.80722	D	1	D	0.59357	0.985	P	0.53518	0.728	D	0.91128	0.4935	10	0.72032	D	0.01	.	17.7934	0.88562	0.0:0.0:1.0:0.0	.	211	P31273	HXC8_HUMAN	N	211	ENSP00000040584:D211N	ENSP00000040584:D211N	D	+	1	0	HOXC8	52691334	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.567000	0.86603	0.650000	0.86243	GAT		0.488	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2				17	49	0	0	0	0.00499	0	17	49		
NEUROD4	58158	broad.mit.edu	37	12	55420612	55420612	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:55420612G>C	ENST00000242994.3	+	2	767	c.389G>C	c.(388-390)aGa>aCa	p.R130T		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	130	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GAGACTCTTAGACTGGCCAGG	0.502																																						uc001sgp.3		NaN																	0				ovary(3)|skin(1)	4						c.(388-390)AGA>ACA		neurogenic differentiation 4							80.0	84.0	83.0					12																	55420612		2203	4300	6503	SO:0001583	missense	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55420612G>C	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.389G>C	12.37:g.55420612G>C	ENSP00000242994:p.Arg130Thr						p.R130T	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN			2	767	+			130			Helix-loop-helix motif.		B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	c.389G>C	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984270	0.74474	.	.	ENSG00000123307	ENST00000242994	D	0.98105	-4.72	5.7	4.81	0.61882	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	M	0.91612	3.225	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.99525	1.0959	10	0.66056	D	0.02	-29.3266	12.6853	0.56944	0.0799:0.0:0.9201:0.0	.	130	Q9HD90	NDF4_HUMAN	T	130	ENSP00000242994:R130T	ENSP00000242994:R130T	R	+	2	0	NEUROD4	53706879	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	9.869000	0.99810	1.558000	0.49541	0.655000	0.94253	AGA		0.502	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1				16	67	0	0	0	0.00499	0	16	67		
DGKA	1606	broad.mit.edu	37	12	56334764	56334764	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:56334764G>A	ENST00000331886.5	+	13	1555	c.1101G>A	c.(1099-1101)cgG>cgA	p.R367R	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Splice_Site_p.R367R|DGKA_ENST00000394147.1_Splice_Site_p.R367R	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	367					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	AGGCTCTGCGGGTACAGGGCT	0.542																																						uc001sij.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(1099-1101)CGG>CGA		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						50.0	50.0	50.0					12																	56334764		2203	4300	6503	SO:0001630	splice_region_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56334764G>A	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1101+1G>A	12.37:g.56334764G>A						DGKA_uc001sih.1_Silent_p.R255R|DGKA_uc001sii.1_Silent_p.R225R|DGKA_uc009zod.1_Silent_p.R286R|DGKA_uc001sik.2_Silent_p.R367R|DGKA_uc001sil.2_Silent_p.R367R|DGKA_uc001sim.2_Silent_p.R367R|DGKA_uc001sin.2_Silent_p.R367R|DGKA_uc009zof.2_Silent_p.R13R|DGKA_uc001sio.2_Silent_p.R109R	p.R367R	NM_001345	NP_001336	P23743	DGKA_HUMAN			13	1365	+			367					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	c.1101G>A	CCDS8896.1																																																																																				0.542	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			Silent	7	27	0	0	0	0.001984	0	7	27		
ERP29	10961	broad.mit.edu	37	12	112451286	112451286	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:112451286C>T	ENST00000261735.3	+	1	167	c.17C>T	c.(16-18)cCc>cTc	p.P6L	TMEM116_ENST00000550831.3_5'Flank|ERP29_ENST00000455836.1_Missense_Mutation_p.P6L|TMEM116_ENST00000552374.2_5'Flank|TMEM116_ENST00000354825.3_5'Flank|TMEM116_ENST00000437003.2_5'Flank|TMEM116_ENST00000552839.2_5'Flank|TMEM116_ENST00000549537.2_5'Flank|TMEM116_ENST00000355445.3_5'Flank	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	6					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)|protein secretion (GO:0009306)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						GCCGCTGTGCCCCGCGCCGCA	0.682																																						uc001ttk.1		NaN																	0					0						c.(16-18)CCC>CTC		endoplasmic reticulum protein 29 isoform 1							53.0	57.0	56.0					12																	112451286		2203	4300	6503	SO:0001583	missense	10961				intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity	g.chr12:112451286C>T	X94910	CCDS9158.1, CCDS44977.1	12q24.13	2011-10-19	2005-10-05	2005-10-05		ENSG00000089248		"""Protein disulfide isomerases"""	13799	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 9"""	602287	"""chromosome 12 open reading frame 8"""	C12orf8		9738895, 9037184	Standard	NM_006817		Approved	ERp28, ERp31, ERp29, PDI-DB, PDIA9	uc001ttk.1	P30040	OTTHUMG00000169637	ENST00000261735.3:c.17C>T	12.37:g.112451286C>T	ENSP00000261735:p.Pro6Leu					ERP29_uc001ttl.1_Missense_Mutation_p.P6L|TMEM116_uc001ttc.1_5'Flank|TMEM116_uc001ttd.1_5'Flank|TMEM116_uc001tte.1_5'Flank|TMEM116_uc001ttf.1_5'Flank|TMEM116_uc001ttg.1_5'Flank|TMEM116_uc001tth.1_5'Flank|TMEM116_uc001tti.1_5'Flank|TMEM116_uc001ttj.1_5'Flank	p.P6L	NM_006817	NP_006808	P30040	ERP29_HUMAN			1	135	+			6					C9J183|Q3MJC3|Q6FHT4	Missense_Mutation	SNP	ENST00000261735.3	37	c.17C>T	CCDS9158.1	.	.	.	.	.	.	.	.	.	.	C	4.234	0.042348	0.08196	.	.	ENSG00000089248	ENST00000261735;ENST00000455836	.	.	.	4.65	2.83	0.33086	.	1.033160	0.07701	N	0.940417	T	0.25754	0.0627	N	0.08118	0	0.22213	N	0.999286	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.26155	-1.0111	9	0.72032	D	0.01	1.0116	9.035	0.36282	0.0:0.8258:0.0:0.1742	.	6;6	C9J183;P30040	.;ERP29_HUMAN	L	6	.	ENSP00000261735:P6L	P	+	2	0	ERP29	110935669	0.004000	0.15560	0.002000	0.10522	0.004000	0.04260	0.464000	0.21988	0.582000	0.29556	-0.373000	0.07131	CCC		0.682	ERP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405200.1				14	58	0	0	0	0.020292	0	14	58		
NCOR2	9612	broad.mit.edu	37	12	124820110	124820110	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:124820110T>C	ENST00000405201.1	-	39	6184	c.6184A>G	c.(6184-6186)Acc>Gcc	p.T2062A	NCOR2_ENST00000404621.1_Missense_Mutation_p.T2052A|NCOR2_ENST00000429285.2_Missense_Mutation_p.T2052A|NCOR2_ENST00000356219.3_Missense_Mutation_p.T2069A|NCOR2_ENST00000404121.2_Missense_Mutation_p.T1623A|NCOR2_ENST00000397355.1_Missense_Mutation_p.T2053A			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2073					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TTGTCGTGGGTCAGACTGGGT	0.677																																						uc010tay.1		NaN																	0				skin(3)|ovary(1)	4						c.(6214-6216)ACC>GCC		nuclear receptor co-repressor 2 isoform 1							29.0	38.0	35.0					12																	124820110		1925	4126	6051	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124820110T>C	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6184A>G	12.37:g.124820110T>C	ENSP00000384018:p.Thr2062Ala					NCOR2_uc010taz.1_Missense_Mutation_p.T2056A|NCOR2_uc010tax.1_Missense_Mutation_p.T183A	p.T2072A	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	41	6370	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2073					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.6214A>G	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	T	1.722	-0.496480	0.04291	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	T;T;T;T;T;T	0.16743	2.32;2.58;2.32;2.58;2.32;2.58	3.56	0.58	0.17402	.	0.677289	0.14698	N	0.303753	T	0.08223	0.0205	L	0.36672	1.1	0.20403	N	0.999905	B;B;B	0.26363	0.073;0.147;0.091	B;B;B	0.23018	0.014;0.043;0.019	T	0.33624	-0.9861	10	0.07030	T	0.85	-21.7	0.7973	0.01068	0.2777:0.3372:0.1424:0.2427	.	2053;2062;2073	C9J239;C9JFD3;Q9Y618	.;.;NCOR2_HUMAN	A	2062;2052;2069;2053;2061;1623;154;2052	ENSP00000384018:T2062A;ENSP00000384202:T2052A;ENSP00000348551:T2069A;ENSP00000380513:T2053A;ENSP00000385618:T1623A;ENSP00000400281:T2052A	ENSP00000348551:T2069A	T	-	1	0	NCOR2	123386063	0.318000	0.24598	0.857000	0.33713	0.078000	0.17371	-0.131000	0.10482	0.100000	0.17581	0.413000	0.27773	ACC		0.677	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2		NM_006312		4	21	0	0	0	0.014758	0	4	21		
PIWIL1	9271	broad.mit.edu	37	12	130840202	130840202	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:130840202G>A	ENST00000245255.3	+	12	1666	c.1394G>A	c.(1393-1395)gGt>gAt	p.G465D		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	465					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATTCACCAAGGTGGAAAAACA	0.453																																						uc001uik.2		NaN																	0				ovary(2)	2						c.(1393-1395)GGT>GAT		piwi-like 1							124.0	141.0	135.0					12																	130840202		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130840202G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1394G>A	12.37:g.130840202G>A	ENSP00000245255:p.Gly465Asp					PIWIL1_uc001uij.1_Missense_Mutation_p.G465D	p.G465D	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	12	1484	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		465					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1394G>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435299	0.43224	.	.	ENSG00000125207	ENST00000245255	T	0.15603	2.41	5.3	4.35	0.52113	Ribonuclease H-like (1);	0.288521	0.38492	N	0.001676	T	0.24851	0.0603	L	0.57536	1.79	0.40244	D	0.977991	B;P	0.48230	0.024;0.907	B;P	0.48677	0.02;0.586	T	0.01334	-1.1382	10	0.45353	T	0.12	-9.3768	12.5263	0.56087	0.0:0.3305:0.6695:0.0	.	465;465	Q96J94;Q96J94-2	PIWL1_HUMAN;.	D	465	ENSP00000245255:G465D	ENSP00000245255:G465D	G	+	2	0	PIWIL1	129406155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.100000	0.57762	2.475000	0.83589	0.650000	0.86243	GGT		0.453	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1				10	106	0	0	0	0.006214	0	10	106		
GPR133	283383	broad.mit.edu	37	12	131593323	131593323	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:131593323G>A	ENST00000261654.5	+	18	2501	c.1942G>A	c.(1942-1944)Gca>Aca	p.A648T	GPR133_ENST00000535015.1_Missense_Mutation_p.A680T|GPR133_ENST00000376682.4_Missense_Mutation_p.A334T|GPR133_ENST00000543617.1_Missense_Mutation_p.A167T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	648					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A648T(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAGTGCCTTCGCATGGATGCT	0.567																																						uc001uit.3		NaN																	1	Substitution - Missense(1)		large_intestine(1)	pancreas(5)|ovary(3)|skin(2)	10						c.(1942-1944)GCA>ACA		G protein-coupled receptor 133 precursor							216.0	199.0	205.0					12																	131593323		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131593323G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1942G>A	12.37:g.131593323G>A	ENSP00000261654:p.Ala648Thr					GPR133_uc010tbm.1_Missense_Mutation_p.A680T|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Missense_Mutation_p.A167T|GPR133_uc009zyp.2_RNA	p.A648T	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	18	2501	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		648			Helical; Name=3; (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1942G>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470098	0.43839	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.43294	1.18;0.95;1.18;1.18	4.91	4.91	0.64330	GPCR, family 2-like (1);	0.053328	0.85682	D	0.000000	T	0.30541	0.0768	N	0.21324	0.655	0.58432	D	0.999999	P;B;B	0.37594	0.601;0.174;0.345	B;B;B	0.35278	0.199;0.064;0.149	T	0.07481	-1.0770	10	0.26408	T	0.33	.	17.0749	0.86583	0.0:0.0:1.0:0.0	.	680;167;648	B7ZLF7;Q6QNK2-3;Q6QNK2	.;.;GP133_HUMAN	T	648;680;334;167	ENSP00000261654:A648T;ENSP00000444425:A680T;ENSP00000365872:A334T;ENSP00000438021:A167T	ENSP00000261654:A648T	A	+	1	0	GPR133	130159276	1.000000	0.71417	0.990000	0.47175	0.918000	0.54935	3.289000	0.51747	2.258000	0.74832	0.655000	0.94253	GCA		0.567	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1		NM_198827		31	145	0	0	0	0.013726	0	31	145		
SPG20	23111	broad.mit.edu	37	13	36909198	36909198	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr13:36909198G>C	ENST00000451493.1	-	2	987	c.770C>G	c.(769-771)tCt>tGt	p.S257C	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Missense_Mutation_p.S257C|SPG20_ENST00000355182.4_Missense_Mutation_p.S257C|SPG20_ENST00000438666.2_Missense_Mutation_p.S257C	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	257					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CGTATCGAGAGAATTATCCAA	0.388																																						uc001uvn.2		NaN																	0					0						c.(769-771)TCT>TGT		spartin							92.0	98.0	96.0					13																	36909198		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36909198G>C	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.770C>G	13.37:g.36909198G>C	ENSP00000414147:p.Ser257Cys					SPG20_uc010ten.1_Missense_Mutation_p.S257C|SPG20_uc001uvm.2_Missense_Mutation_p.S257C|SPG20_uc001uvo.2_Missense_Mutation_p.S257C|SPG20_uc001uvq.2_Missense_Mutation_p.S257C|SPG20_uc001uvp.2_Missense_Mutation_p.S257C	p.S257C	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	3	1040	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	257					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.770C>G	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479131	0.63849	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89196	-2.48;-2.48;-2.48	5.82	4.98	0.66077	.	0.384557	0.30969	N	0.008518	D	0.89791	0.6817	L	0.50333	1.59	0.24134	N	0.995757	D;D;D	0.60575	0.988;0.981;0.988	P;P;P	0.53313	0.723;0.662;0.723	D	0.84022	0.0354	10	0.62326	D	0.03	-25.9906	13.2891	0.60260	0.0:0.0:0.5694:0.4306	.	257;257;257	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	C	257	ENSP00000406061:S257C;ENSP00000347314:S257C;ENSP00000414147:S257C	ENSP00000347314:S257C	S	-	2	0	SPG20	35807198	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.360000	0.52299	1.446000	0.47643	0.650000	0.86243	TCT		0.388	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2				31	98	0	0	0	0.017118	0	31	98		
PRMT5	10419	broad.mit.edu	37	14	23393862	23393862	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr14:23393862G>C	ENST00000324366.8	-	9	1219	c.996C>G	c.(994-996)atC>atG	p.I332M	PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.I315M|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553641.1_5'Flank|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.I226M|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.I161M|PRMT5_ENST00000216350.8_Missense_Mutation_p.I271M|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.I288M|PRMT5-AS1_ENST00000424245.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	332	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GAGAGTATTTGATGGGGTCCT	0.478																																						uc001whm.1		NaN																	0				ovary(1)	1						c.(994-996)ATC>ATG		protein arginine methyltransferase 5 isoform a							102.0	92.0	95.0					14																	23393862		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23393862G>C	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.996C>G	14.37:g.23393862G>C	ENSP00000319169:p.Ile332Met					PRMT5_uc001whl.1_Missense_Mutation_p.I315M|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.I226M|PRMT5_uc010tng.1_Missense_Mutation_p.I271M|PRMT5_uc010tnh.1_Missense_Mutation_p.I288M|PRMT5_uc001whn.1_Missense_Mutation_p.I161M	p.I332M	NM_006109	NP_006100	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	9	1087	-	all_cancers(95;2.76e-05)		332					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.996C>G	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810338	0.32053	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000553502;ENST00000555530;ENST00000556043;ENST00000553550	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.92	5.92	0.95590	.	0.159078	0.56097	D	0.000026	T	0.32675	0.0837	L	0.51422	1.61	0.54753	D	0.999981	B;B;B;D;B	0.56746	0.203;0.254;0.205;0.977;0.122	B;B;B;P;B	0.58721	0.097;0.232;0.215;0.844;0.156	T	0.02288	-1.1182	10	0.56958	D	0.05	-14.9891	8.7149	0.34405	0.0787:0.1534:0.7679:0.0	.	288;271;161;332;315	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	M	332;315;161;271;226;288;75;227;84;178	ENSP00000319169:I332M;ENSP00000380583:I315M;ENSP00000380582:I161M;ENSP00000216350:I271M;ENSP00000444915:I226M;ENSP00000452555:I288M	ENSP00000216350:I271M	I	-	3	3	PRMT5	22463702	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.401000	0.44513	2.813000	0.96785	0.561000	0.74099	ATC		0.478	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3				6	52	0	0	0	0.021553	0	6	52		
YLPM1	56252	broad.mit.edu	37	14	75265975	75265975	+	Silent	SNP	A	A	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr14:75265975A>G	ENST00000325680.7	+	5	4099	c.3975A>G	c.(3973-3975)gaA>gaG	p.E1325E	YLPM1_ENST00000238571.3_Silent_p.E1130E|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1130					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGTTTCGTGAACGGGATATTC	0.443																																						uc001xqj.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(3973-3975)GAA>GAG		YLP motif containing 1							142.0	143.0	142.0					14																	75265975		1924	4128	6052	SO:0001819	synonymous_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265975A>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3975A>G	14.37:g.75265975A>G						YLPM1_uc001xql.3_RNA	p.E1325E	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	4099	+			1130			Arg-rich.		P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000325680.7	37	c.3975A>G	CCDS45135.1																																																																																				0.443	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1		NM_019589		19	64	0	0	0	0.006122	0	19	64		
SERPINA12	145264	broad.mit.edu	37	14	94964104	94964104	+	Missense_Mutation	SNP	G	G	C	rs61757459	byFrequency	TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr14:94964104G>C	ENST00000341228.2	-	3	1426	c.631C>G	c.(631-633)Cga>Gga	p.R211G	SERPINA12_ENST00000556881.1_Missense_Mutation_p.R211G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	211					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCCTTACCTCGAAAGAAAATA	0.408																																						uc001ydj.2		NaN																	0				central_nervous_system(2)|ovary(1)|lung(1)	4						c.(631-633)CGA>GGA		serine (or cysteine) proteinase inhibitor, clade							61.0	60.0	60.0					14																	94964104		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94964104G>C	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.631C>G	14.37:g.94964104G>C	ENSP00000342109:p.Arg211Gly						p.R211G	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	3	1427	-			211						Missense_Mutation	SNP	ENST00000341228.2	37	c.631C>G	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805032	0.50315	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.88277	-2.36;-2.36	5.38	5.38	0.77491	Serpin domain (3);	1.156130	0.06436	N	0.725125	D	0.90810	0.7114	M	0.82517	2.595	0.41617	D	0.988943	P	0.49253	0.921	P	0.44860	0.462	D	0.87557	0.2469	10	0.72032	D	0.01	.	7.4262	0.27100	0.084:0.0:0.703:0.213	.	211	Q8IW75	SPA12_HUMAN	G	211	ENSP00000451738:R211G;ENSP00000342109:R211G	ENSP00000342109:R211G	R	-	1	2	SERPINA12	94033857	1.000000	0.71417	0.181000	0.23098	0.806000	0.45545	4.323000	0.59221	2.507000	0.84556	0.655000	0.94253	CGA		0.408	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1		NM_173850		19	64	0	0	0	0.010504	0	19	64		
HSP90AA1	3320	broad.mit.edu	37	14	102550835	102550835	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr14:102550835C>G	ENST00000216281.8	-	6	1253	c.1048G>C	c.(1048-1050)Gat>Cat	p.D350H	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.D171H|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.D472H	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	350					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TCAAACAGATCAAAAGGAGCA	0.373																																						uc001yku.3		NaN																	0				ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(1048-1050)GAT>CAT		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						63.0	55.0	58.0					14																	102550835		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102550835C>G	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1048G>C	14.37:g.102550835C>G	ENSP00000216281:p.Asp350His					HSP90AA1_uc001ykv.3_Missense_Mutation_p.D472H|HSP90AA1_uc001ykw.1_Missense_Mutation_p.D171H|HSP90AA1_uc001ykx.1_Missense_Mutation_p.D339H	p.D350H	NM_005348	NP_005339	P07900	HS90A_HUMAN			6	1238	-			350					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.1048G>C	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	24.2	4.501423	0.85176	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.15718	2.4;2.4;2.4	4.18	4.18	0.49190	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	U	0.000000	T	0.66458	0.2791	H	0.99965	5.09	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.978;0.999;1.0	D	0.85338	0.1094	10	0.87932	D	0	-27.8979	16.4911	0.84201	0.0:1.0:0.0:0.0	.	171;472;350	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	H	350;472;171	ENSP00000216281:D350H;ENSP00000335153:D472H;ENSP00000396189:D171H	ENSP00000216281:D350H	D	-	1	0	HSP90AA1	101620588	1.000000	0.71417	0.984000	0.44739	0.985000	0.73830	7.634000	0.83273	2.047000	0.60756	0.561000	0.74099	GAT		0.373	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2		NM_005348		15	61	0	0	0	0.020292	0	15	61		
OTUD7A	161725	broad.mit.edu	37	15	31793915	31793915	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr15:31793915C>G	ENST00000307050.4	-	8	1220	c.1128G>C	c.(1126-1128)caG>caC	p.Q376H	OTUD7A_ENST00000382902.1_Missense_Mutation_p.Q383H	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	376	Catalytic. {ECO:0000250}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCTGGTCTCTCTGTTCCATGG	0.577																																						uc001zfq.2		NaN																	0				pancreas(1)|skin(1)	2						c.(1126-1128)CAG>CAC		OTU domain containing 7A							157.0	136.0	143.0					15																	31793915		2202	4300	6502	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31793915C>G	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1128G>C	15.37:g.31793915C>G	ENSP00000305926:p.Gln376His					OTUD7A_uc001zfr.2_Missense_Mutation_p.Q383H	p.Q376H	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	8	1221	-		all_lung(180;1.6e-09)	376			Catalytic (By similarity).|TRAF-binding (By similarity).		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1128G>C	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773244	0.69992	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.34472	1.36;1.36	4.84	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	L	0.52364	1.645	0.38984	D	0.95901	D;D	0.71674	0.998;0.996	D;D	0.80764	0.994;0.986	T	0.46303	-0.9201	10	0.48119	T	0.1	-36.9853	6.3545	0.21395	0.0:0.7683:0.0:0.2317	.	383;376	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	H	376;383	ENSP00000305926:Q376H;ENSP00000372358:Q383H	ENSP00000305926:Q376H	Q	-	3	2	OTUD7A	29581207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.137000	0.50562	2.357000	0.79964	0.655000	0.94253	CAG		0.577	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2		NM_130901		9	57	0	0	0	0.006214	0	9	57		
CASC5	57082	broad.mit.edu	37	15	40917795	40917795	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr15:40917795G>T	ENST00000346991.5	+	11	5801	c.5411G>T	c.(5410-5412)aGa>aTa	p.R1804I	CASC5_ENST00000399668.2_Missense_Mutation_p.R1778I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1804					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAAAAAATCAGAAAAAATGAG	0.333																																						uc010bbs.1		NaN																	0				breast(3)|central_nervous_system(1)|skin(1)	5						c.(5410-5412)AGA>ATA		cancer susceptibility candidate 5 isoform 1							45.0	42.0	43.0					15																	40917795		1814	4082	5896	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40917795G>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5411G>T	15.37:g.40917795G>T	ENSP00000335463:p.Arg1804Ile					CASC5_uc010ucq.1_Missense_Mutation_p.R1628I|CASC5_uc001zme.2_Missense_Mutation_p.R1778I|CASC5_uc010bbt.1_Missense_Mutation_p.R1778I	p.R1804I	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	5572	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1804					Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.5411G>T	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110643	0.56398	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.18810	2.19;2.19	5.7	1.65	0.23941	.	0.376195	0.22648	N	0.057374	T	0.22085	0.0532	M	0.70275	2.135	0.27797	N	0.942629	P;P;P	0.44380	0.834;0.834;0.583	B;B;B	0.41666	0.363;0.363;0.17	T	0.13710	-1.0499	10	0.87932	D	0	.	5.7928	0.18369	0.3145:0.0:0.5572:0.1283	.	1778;1804;1778	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	I	1804;1778	ENSP00000335463:R1804I;ENSP00000382576:R1778I	ENSP00000335463:R1804I	R	+	2	0	CASC5	38705087	0.954000	0.32549	0.700000	0.30305	0.968000	0.65278	0.486000	0.22340	0.337000	0.23665	0.557000	0.71058	AGA		0.333	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2		NM_144508		5	37	1	0	5.9392e-07	0.021553	6.3104e-07	5	37		
CCDC101	112869	broad.mit.edu	37	16	28602255	28602255	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr16:28602255G>A	ENST00000317058.3	+	9	951	c.764G>A	c.(763-765)cGg>cAg	p.R255Q		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	255	SGF29 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00851}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CCCCCACAGCGGGTAAAGCAG	0.617																																						uc002dqf.2		NaN																	0				central_nervous_system(1)	1						c.(763-765)CGG>CAG		coiled-coil domain containing 101							25.0	23.0	23.0					16																	28602255		2197	4299	6496	SO:0001630	splice_region_variant	112869				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding	g.chr16:28602255G>A	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"""SAGA-associated factor 29 homolog (yeast)"""	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.765+1G>A	16.37:g.28602255G>A						uc010vct.1_Intron	p.R255Q	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN			9	949	+			255			SGF29 C-terminal.		Q96MF5	Missense_Mutation	SNP	ENST00000317058.3	37	c.764G>A	CCDS10635.1	.	.	.	.	.	.	.	.	.	.	.	14.79	2.641094	0.47153	.	.	ENSG00000176476	ENST00000317058	T	0.32272	1.46	5.51	4.56	0.56223	SGF29 tudor-like domain (2);	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	N	0.17082	0.46	0.80722	D	1	B	0.28378	0.209	B	0.13407	0.009	T	0.06807	-1.0806	10	0.13853	T	0.58	.	12.1858	0.54239	0.0826:0.0:0.9174:0.0	.	255	Q96ES7	SGF29_HUMAN	Q	255	ENSP00000316114:R255Q	ENSP00000316114:R255Q	R	+	2	0	CCDC101	28509756	1.000000	0.71417	0.997000	0.53966	0.683000	0.39861	6.718000	0.74713	1.346000	0.45694	0.655000	0.94253	CGG		0.617	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1		NM_138414	Missense_Mutation	3	13	0	0	0	0.004672	0	3	13		
PARD6A	50855	broad.mit.edu	37	16	67695381	67695381	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr16:67695381C>A	ENST00000219255.3	+	2	167	c.87C>A	c.(85-87)ttC>ttA	p.F29L	PARD6A_ENST00000458121.2_Missense_Mutation_p.F29L|ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000393919.4_5'Flank|PARD6A_ENST00000602551.1_Missense_Mutation_p.F29L|ACD_ENST00000219251.8_5'Flank			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	29	Interaction with PRKCI and PRKCZ.|OPR.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TCCGACGCTTCGCGCTGCCTC	0.662																																						uc002ett.2		NaN																	0				ovary(1)	1						c.(85-87)TTC>TTA		par-6 partitioning defective 6 homolog alpha							53.0	60.0	58.0					16																	67695381		2197	4299	6496	SO:0001583	missense	50855				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	g.chr16:67695381C>A		CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.87C>A	16.37:g.67695381C>A	ENSP00000219255:p.Phe29Leu					ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Missense_Mutation_p.F29L|PARD6A_uc002etu.2_5'UTR	p.F29L	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	2	178	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	29			Interaction with PRKCI and PRKCZ.|OPR.		O14911|Q9NPJ7	Missense_Mutation	SNP	ENST00000219255.3	37	c.87C>A	CCDS10843.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000919	0.74818	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	T;T	0.61980	0.06;0.08	5.4	-4.7	0.03288	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	M	0.76938	2.355	0.46044	D	0.99883	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76088	-0.3087	10	0.66056	D	0.02	-12.2198	14.3571	0.66745	0.0:0.2101:0.0:0.7899	.	29;29	Q9NPB6;Q9NPB6-2	PAR6A_HUMAN;.	L	29	ENSP00000392388:F29L;ENSP00000219255:F29L	ENSP00000219255:F29L	F	+	3	2	PARD6A	66252882	0.162000	0.22906	0.215000	0.23724	0.989000	0.77384	-0.591000	0.05753	-1.044000	0.03254	0.462000	0.41574	TTC		0.662	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2		NM_016948		18	67	1	0	3.51602e-12	0.008871	3.8905e-12	18	67		
HYDIN	54768	broad.mit.edu	37	16	71220684	71220684	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr16:71220684C>A	ENST00000393567.2	-	2	265	c.115G>T	c.(115-117)Gaa>Taa	p.E39*	HYDIN_ENST00000321489.5_Nonsense_Mutation_p.E39*|HYDIN_ENST00000448089.2_Nonsense_Mutation_p.E39*|HYDIN_ENST00000541601.1_Nonsense_Mutation_p.E56*|HYDIN_ENST00000448691.1_Nonsense_Mutation_p.E39*|HYDIN_ENST00000538248.1_Nonsense_Mutation_p.E66*|HYDIN_ENST00000288168.10_Nonsense_Mutation_p.E56*|HYDIN_ENST00000393550.2_Nonsense_Mutation_p.E39*	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	39					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTTCTTCTTCTGTAACCACC	0.413																																						uc002ezr.2		NaN																	0				ovary(1)|skin(1)	2						c.(115-117)GAA>TAA		hydrocephalus inducing isoform a							149.0	137.0	141.0					16																	71220684		2198	4300	6498	SO:0001587	stop_gained	54768							g.chr16:71220684C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.115G>T	16.37:g.71220684C>A	ENSP00000377197:p.Glu39*					HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Nonsense_Mutation_p.E39*|HYDIN_uc010vmc.1_Nonsense_Mutation_p.E56*|HYDIN_uc010vmd.1_Nonsense_Mutation_p.E66*|HYDIN_uc002ezw.3_Nonsense_Mutation_p.E56*	p.E39*	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			2	243	-		Ovarian(137;0.0654)	39					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	c.115G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.893892	0.72639	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550;ENST00000539973	.	.	.	5.55	3.61	0.41365	.	0.000000	0.31233	U	0.008016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	11.2699	0.49133	0.0:0.8491:0.0:0.1509	.	.	.	.	X	39;39;39;39;39;66;56;56;39;79	.	ENSP00000288168:E56X	E	-	1	0	HYDIN	69778185	1.000000	0.71417	0.861000	0.33841	0.878000	0.50629	2.139000	0.42149	0.714000	0.32081	-0.157000	0.13467	GAA		0.413	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3				12	65	1	0	1.08611e-07	0.010729	1.16058e-07	12	65		
SPATA22	84690	broad.mit.edu	37	17	3352265	3352265	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr17:3352265T>C	ENST00000573128.1	-	6	991	c.508A>G	c.(508-510)Aaa>Gaa	p.K170E	SPATA22_ENST00000397168.3_Missense_Mutation_p.K170E|SPATA22_ENST00000355380.4_Missense_Mutation_p.K127E|SPATA22_ENST00000572969.1_Missense_Mutation_p.K170E|SPATA22_ENST00000575375.1_Missense_Mutation_p.K170E|SPATA22_ENST00000541913.1_Missense_Mutation_p.K154E|SPATA22_ENST00000268981.5_Missense_Mutation_p.K170E			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	170					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TCGGTTTCTTTGTTGCGAGAT	0.403																																						uc002fvm.2		NaN																	0					0						c.(508-510)AAA>GAA		spermatogenesis associated 22							259.0	252.0	255.0					17																	3352265		2202	4300	6502	SO:0001583	missense	84690							g.chr17:3352265T>C	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.508A>G	17.37:g.3352265T>C	ENSP00000459580:p.Lys170Glu					SPATA22_uc010vrg.1_Missense_Mutation_p.K154E|SPATA22_uc010vrf.1_Missense_Mutation_p.K170E|SPATA22_uc002fvn.2_Missense_Mutation_p.K170E|SPATA22_uc002fvo.2_Missense_Mutation_p.K170E|SPATA22_uc002fvp.2_Missense_Mutation_p.K170E|SPATA22_uc010ckf.2_Missense_Mutation_p.K127E	p.K170E	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN			6	745	-			170					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.508A>G	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	t	7.777	0.708679	0.15239	.	.	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000268981;ENST00000541913	T;T;T;T	0.22945	1.98;2.02;1.93;2.01	4.67	3.59	0.41128	.	0.786233	0.11185	N	0.590546	T	0.14313	0.0346	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.32467	0.11;0.372;0.11;0.11	B;B;B;B	0.28011	0.059;0.085;0.059;0.059	T	0.18366	-1.0339	10	0.36615	T	0.2	-0.0869	8.3885	0.32514	0.0:0.0934:0.0:0.9066	.	154;170;127;170	F5GWB9;B4DXB1;Q8NHS9-2;Q8NHS9	.;.;.;SPT22_HUMAN	E	127;170;170;154	ENSP00000347541:K127E;ENSP00000380354:K170E;ENSP00000268981:K170E;ENSP00000441920:K154E	ENSP00000268981:K170E	K	-	1	0	SPATA22	3299015	0.838000	0.29461	0.422000	0.26621	0.011000	0.07611	0.958000	0.29227	0.891000	0.36235	0.454000	0.30748	AAA		0.403	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2		NM_032598		71	175	0	0	0	0.01441	0	71	175		
TP53	7157	broad.mit.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr17:7578454G>A	ENST00000269305.4	-	5	665	c.476C>T	c.(475-477)gCc>gTc	p.A159V	TP53_ENST00000359597.4_Missense_Mutation_p.A159V|TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000420246.2_Missense_Mutation_p.A159V|TP53_ENST00000574684.1_5'Flank	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	159	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (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.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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)	GATGGCCATGGCGCGGACGCG	0.627		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)	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		81	Substitution - Missense(42)|Deletion - In frame(12)|Complex(10)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - frameshift(2)	p.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)	central_nervous_system(15)|large_intestine(13)|lung(13)|stomach(6)|breast(6)|ovary(6)|oesophagus(4)|bone(4)|liver(4)|haematopoietic_and_lymphoid_tissue(3)|pancreas(2)|upper_aerodigestive_tract(1)|endometrium(1)|urinary_tract(1)|skin(1)|prostate(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						c.(475-477)GCC>GTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	51.0	51.0					17																	7578454		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|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.chr17:7578454G>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.476C>T	17.37:g.7578454G>A	ENSP00000269305:p.Ala159Val	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_Missense_Mutation_p.A159V|TP53_uc002gih.2_Missense_Mutation_p.A159V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27V|TP53_uc010cng.1_Missense_Mutation_p.A27V|TP53_uc002gii.1_Missense_Mutation_p.A27V|TP53_uc010cnh.1_Missense_Mutation_p.A159V|TP53_uc010cni.1_Missense_Mutation_p.A159V|TP53_uc002gij.2_Missense_Mutation_p.A159V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66V|TP53_uc002gio.2_Missense_Mutation_p.A27V|TP53_uc010vug.1_Missense_Mutation_p.A120V	p.A159V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	670	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	159		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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.476C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211949	0.58452	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.59	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.053992	0.64402	D	0.000001	D	0.99594	0.9853	L	0.49513	1.565	0.50171	D	0.999855	D;P;B;D;P;P;D	0.67145	0.984;0.881;0.358;0.989;0.832;0.769;0.996	P;P;B;P;P;P;P	0.59703	0.774;0.616;0.255;0.741;0.814;0.632;0.862	D	0.98152	1.0442	10	0.87932	D	0	-9.0177	10.7596	0.46258	0.0:0.2672:0.5942:0.1386	.	120;159;159;66;159;159;159	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	159;159;159;159;159;159;148;66;27;66;27;159	ENSP00000410739:A159V;ENSP00000352610:A159V;ENSP00000269305:A159V;ENSP00000398846:A159V;ENSP00000391127:A159V;ENSP00000391478:A159V;ENSP00000425104:A27V;ENSP00000423862:A66V;ENSP00000424104:A159V	ENSP00000269305:A159V	A	-	2	0	TP53	7519179	1.000000	0.71417	0.377000	0.26055	0.171000	0.22731	7.969000	0.87988	0.364000	0.24374	-0.176000	0.13171	GCC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		16	64	0	0	0	0.006122	0	16	64		
CHD3	1107	broad.mit.edu	37	17	7808955	7808955	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr17:7808955G>C	ENST00000330494.7	+	27	4305	c.4155G>C	c.(4153-4155)aaG>aaC	p.K1385N	SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.K1385N|CHD3_ENST00000380358.4_Missense_Mutation_p.K1444N	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1385					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GACAGTCAAAGAGGCAGCTCC	0.567																																						uc002gje.2		NaN																	0				breast(1)	1						c.(4153-4155)AAG>AAC		chromodomain helicase DNA binding protein 3							40.0	32.0	35.0					17																	7808955		2203	4300	6503	SO:0001583	missense	1107				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|protein binding|zinc ion binding	g.chr17:7808955G>C	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4155G>C	17.37:g.7808955G>C	ENSP00000332628:p.Lys1385Asn					CHD3_uc002gjd.2_Missense_Mutation_p.K1444N|CHD3_uc002gjf.2_Missense_Mutation_p.K1385N|CHD3_uc002gjh.2_5'UTR|SCARNA21_uc002gji.1_5'Flank	p.K1385N	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			27	4305	+		Prostate(122;0.202)	1385					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.4155G>C	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389961	0.42410	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90900	-2.75;-2.68;-2.69	5.14	4.18	0.49190	Domain of unknown function DUF1086 (1);	0.000000	0.48767	D	0.000177	D	0.86493	0.5946	L	0.43152	1.355	0.42298	D	0.992167	B;P;P	0.39717	0.275;0.458;0.684	B;B;B	0.40199	0.12;0.243;0.322	D	0.86450	0.1772	10	0.72032	D	0.01	-31.8414	9.2904	0.37782	0.0761:0.145:0.7789:0.0	.	1385;1385;1444	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	N	1444;1385;1385	ENSP00000369716:K1444N;ENSP00000350907:K1385N;ENSP00000332628:K1385N	ENSP00000332628:K1385N	K	+	3	2	CHD3	7749680	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.491000	0.22419	1.403000	0.46800	0.561000	0.74099	AAG		0.567	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1		NM_001005273		6	16	0	0	0	0.021553	0	6	16		
EMILIN2	84034	broad.mit.edu	37	18	2892374	2892374	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:2892374C>T	ENST00000254528.3	+	4	2408	c.2249C>T	c.(2248-2250)tCg>tTg	p.S750L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	750					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ACGCTCAGGTCGCATTCCAGA	0.483																																						uc002kln.2		NaN																	0				skin(2)|ovary(1)	3						c.(2248-2250)TCG>TTG		elastin microfibril interfacer 2 precursor							63.0	59.0	60.0					18																	2892374		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892374C>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2249C>T	18.37:g.2892374C>T	ENSP00000254528:p.Ser750Leu						p.S750L	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2408	+			750					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.2249C>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641420	0.29157	.	.	ENSG00000132205	ENST00000254528	T	0.35236	1.32	5.48	5.48	0.80851	.	0.601262	0.16470	N	0.213004	T	0.32285	0.0824	M	0.68593	2.085	0.09310	N	1	P	0.43826	0.818	B	0.32864	0.154	T	0.36578	-0.9742	10	0.20519	T	0.43	-3.0387	13.6196	0.62130	0.0:0.9257:0.0:0.0743	.	750	Q9BXX0	EMIL2_HUMAN	L	750	ENSP00000254528:S750L	ENSP00000254528:S750L	S	+	2	0	EMILIN2	2882374	0.003000	0.15002	0.034000	0.17996	0.382000	0.30200	1.923000	0.40055	2.563000	0.86464	0.563000	0.77884	TCG		0.483	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2		NM_032048		21	165	0	0	0	0.008871	0	21	165		
LDLRAD4	753	broad.mit.edu	37	18	13645279	13645279	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:13645279C>T	ENST00000359446.5	+	6	1012	c.544C>T	c.(544-546)Cct>Tct	p.P182S	LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P145S|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P127S|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P105S|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.P182S|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.P84S|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P164S	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	182					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										AGAGCCACCTCCTTACCAGGG	0.607																																						uc002ksa.2		NaN																	0				ovary(2)|skin(1)	3						c.(544-546)CCT>TCT		hypothetical protein LOC753 isoform alpha 1							89.0	95.0	93.0					18																	13645279		2203	4300	6503	SO:0001583	missense	753					integral to membrane|plasma membrane		g.chr18:13645279C>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.544C>T	18.37:g.13645279C>T	ENSP00000352420:p.Pro182Ser					C18orf1_uc002ksb.2_Missense_Mutation_p.P164S|C18orf1_uc002kse.2_Missense_Mutation_p.P145S|C18orf1_uc002ksf.2_Missense_Mutation_p.P127S|C18orf1_uc002ksg.1_Missense_Mutation_p.P105S|C18orf1_uc002ksh.1_Missense_Mutation_p.P124S|C18orf1_uc002ksi.1_Missense_Mutation_p.P106S	p.P182S	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	7	1212	+			182			Cytoplasmic (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.544C>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943790	0.92593	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.38560	1.36;1.13	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.69967	0.3170	M	0.84683	2.71	0.80722	D	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	0.91635	0.999;0.999;0.999;0.999;0.999;0.998	T	0.75861	-0.3168	10	0.87932	D	0	-3.3893	18.6588	0.91465	0.0:1.0:0.0:0.0	.	106;124;127;145;164;182	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	S	182;164;145;127;124;106	ENSP00000354753:P182S;ENSP00000382741:P164S	ENSP00000352420:P145S	P	+	1	0	C18orf1	13635279	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.520000	0.81821	2.419000	0.82065	0.655000	0.94253	CCT		0.607	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1		NM_181481		23	225	0	0	0	0.016522	0	23	225		
ASXL3	80816	broad.mit.edu	37	18	31326233	31326233	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:31326233A>G	ENST00000269197.5	+	12	6421	c.6421A>G	c.(6421-6423)Aaa>Gaa	p.K2141E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2141					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGCTGCTCAGAAAATGCAGGT	0.408																																						uc010dmg.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(6421-6423)AAA>GAA		additional sex combs like 3							95.0	102.0	100.0					18																	31326233		1902	4120	6022	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31326233A>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6421A>G	18.37:g.31326233A>G	ENSP00000269197:p.Lys2141Glu					ASXL3_uc002kxq.2_Missense_Mutation_p.K1848E	p.K2141E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	6476	+			2141					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.6421A>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.762719	0.69763	.	.	ENSG00000141431	ENST00000269197	T	0.16324	2.35	5.97	5.97	0.96955	.	.	.	.	.	T	0.29749	0.0743	N	0.24115	0.695	0.43734	D	0.996221	D	0.76494	0.999	D	0.80764	0.994	T	0.04593	-1.0940	9	0.56958	D	0.05	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	2141	Q9C0F0	ASXL3_HUMAN	E	2141	ENSP00000269197:K2141E	ENSP00000269197:K2141E	K	+	1	0	ASXL3	29580231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.778000	0.75043	2.288000	0.76882	0.533000	0.62120	AAA		0.408	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2				34	83	0	0	0	0.012213	0	34	83		
DCC	1630	broad.mit.edu	37	18	50976988	50976988	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:50976988C>T	ENST00000442544.2	+	23	3964	c.3348C>T	c.(3346-3348)atC>atT	p.I1116I	DCC_ENST00000581580.1_Silent_p.I751I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1116					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TAGTGGTCATCGTGGCTGTGA	0.512																																						uc002lfe.1		NaN																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3346-3348)ATC>ATT		netrin receptor DCC precursor							125.0	99.0	108.0					18																	50976988		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50976988C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3348C>T	18.37:g.50976988C>T						DCC_uc010dpf.1_Silent_p.I751I	p.I1116I	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	23	3935	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1116			Helical; (Potential).			Silent	SNP	ENST00000442544.2	37	c.3348C>T	CCDS11952.1																																																																																				0.512	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3		NM_005215		9	28	0	0	0	0.008291	0	9	28		
NFATC1	4772	broad.mit.edu	37	18	77170646	77170646	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:77170646C>T	ENST00000427363.2	+	2	371	c.371C>T	c.(370-372)tCg>tTg	p.S124L	NFATC1_ENST00000253506.5_Missense_Mutation_p.S124L|NFATC1_ENST00000318065.5_Missense_Mutation_p.S111L|NFATC1_ENST00000586434.1_Missense_Mutation_p.S111L|NFATC1_ENST00000592223.1_Missense_Mutation_p.S111L|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.S124L|NFATC1_ENST00000591814.1_Missense_Mutation_p.S124L|NFATC1_ENST00000329101.4_Missense_Mutation_p.S111L|NFATC1_ENST00000542384.1_Missense_Mutation_p.S124L|NFATC1_ENST00000545796.1_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	124					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GAGATAACCTCGTGCTTGGGC	0.627																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(370-372)TCG>TTG		nuclear factor of activated T-cells, cytosolic							48.0	45.0	46.0					18																	77170646		2203	4300	6503	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77170646C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.371C>T	18.37:g.77170646C>T	ENSP00000389377:p.Ser124Leu					NFATC1_uc002lnc.1_Missense_Mutation_p.S124L|NFATC1_uc010xff.1_Missense_Mutation_p.S124L|NFATC1_uc002lnd.2_Missense_Mutation_p.S124L|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.S124L|NFATC1_uc010xfi.1_Missense_Mutation_p.S111L|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.S111L|NFATC1_uc002lng.2_Missense_Mutation_p.S111L|NFATC1_uc010xfk.1_Missense_Mutation_p.S111L	p.S124L	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	824	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	124					B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.371C>T		.	.	.	.	.	.	.	.	.	.	C	15.61	2.883765	0.51908	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.70399	0.73;-0.48;0.73	4.55	4.55	0.56014	.	0.130626	0.52532	D	0.000073	T	0.76786	0.4036	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D;D;D	0.55605	0.972;0.972;0.972;0.972;0.972;0.972;0.972	P;P;B;P;P;P;P	0.47346	0.466;0.466;0.372;0.466;0.466;0.544;0.466	T	0.82374	-0.0489	10	0.72032	D	0.01	-32.0406	17.5044	0.87740	0.0:1.0:0.0:0.0	.	111;111;124;124;124;111;124	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	L	124;124;124;111;111;88	ENSP00000253506:S124L;ENSP00000442435:S124L;ENSP00000327850:S111L	ENSP00000253506:S124L	S	+	2	0	NFATC1	75271634	0.996000	0.38824	0.868000	0.34077	0.094000	0.18550	7.033000	0.76504	2.350000	0.79820	0.561000	0.74099	TCG		0.627	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1		NM_172390		9	50	0	0	0	0.004482	0	9	50		
SH3GL1	6455	broad.mit.edu	37	19	4362650	4362650	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:4362650G>A	ENST00000269886.3	-	8	990	c.812C>T	c.(811-813)tCc>tTc	p.S271F	SH3GL1_ENST00000598564.1_Missense_Mutation_p.S207F|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Missense_Mutation_p.S223F	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	271					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GCCCCCGTTGGACTGCTCAGG	0.642			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	uc002maj.2		NaN		Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		0				ovary(2)	2						c.(811-813)TCC>TTC		SH3-domain GRB2-like 1							48.0	48.0	48.0					19																	4362650		2203	4300	6503	SO:0001583	missense	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4362650G>A		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.812C>T	19.37:g.4362650G>A	ENSP00000269886:p.Ser271Phe					SH3GL1_uc002mak.2_Missense_Mutation_p.S207F|SH3GL1_uc010xig.1_Missense_Mutation_p.S223F	p.S271F	NM_003025	NP_003016	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	8	918	-			271					B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	ENST00000269886.3	37	c.812C>T	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	12.16	1.855157	0.32791	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	T;T	0.36157	1.67;1.27	4.81	4.81	0.61882	.	0.286130	0.34802	N	0.003670	T	0.40322	0.1112	M	0.63843	1.955	0.58432	D	0.999995	B;B;B	0.22541	0.0;0.071;0.071	B;B;B	0.24974	0.001;0.057;0.057	T	0.37526	-0.9702	10	0.59425	D	0.04	-3.3947	16.4128	0.83725	0.0:0.0:1.0:0.0	.	223;271;271	E7EVZ4;Q6FGM0;Q99961	.;.;SH3G1_HUMAN	F	271;223	ENSP00000269886:S271F;ENSP00000404568:S223F	ENSP00000269886:S271F	S	-	2	0	SH3GL1	4313650	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	5.882000	0.69714	2.210000	0.71456	0.561000	0.74099	TCC		0.642	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1		NM_003025		16	54	0	0	0	0.028581	0	16	54		
RANBP3	8498	broad.mit.edu	37	19	5931433	5931433	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:5931433A>T	ENST00000340578.6	-	8	732	c.675T>A	c.(673-675)gaT>gaA	p.D225E	RANBP3_ENST00000541471.1_Missense_Mutation_p.D97E|RANBP3_ENST00000439268.2_Missense_Mutation_p.D225E|RANBP3_ENST00000591124.1_5'Flank|RANBP3_ENST00000034275.8_Missense_Mutation_p.D157E|RANBP3_ENST00000591092.1_Missense_Mutation_p.D157E	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	225					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CACACACCTCATCGGCAGCTT	0.652																																						uc002mdw.2		NaN																	0				breast(1)	1						c.(673-675)GAT>GAA		RAN binding protein 3 isoform RANBP3-d							41.0	46.0	44.0					19																	5931433		2149	4250	6399	SO:0001583	missense	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5931433A>T	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.675T>A	19.37:g.5931433A>T	ENSP00000341483:p.Asp225Glu					RANBP3_uc002mdv.2_5'UTR|RANBP3_uc002mdx.2_Missense_Mutation_p.D225E|RANBP3_uc002mdy.2_Missense_Mutation_p.D157E|RANBP3_uc002mdz.2_Missense_Mutation_p.D157E|RANBP3_uc010duq.2_Missense_Mutation_p.D135E|RANBP3_uc002mea.2_Missense_Mutation_p.D97E|RANBP3_uc010xix.1_Missense_Mutation_p.D97E	p.D225E	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN			8	902	-			225					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	c.675T>A	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.537956	0.27475	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.30981	1.51;1.51;2.27;1.53	5.61	-9.37	0.00626	.	0.408000	0.26769	N	0.022585	T	0.10465	0.0256	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B	0.10296	0.001;0.002;0.001;0.001;0.003;0.002;0.002	B;B;B;B;B;B;B	0.11329	0.003;0.003;0.002;0.003;0.004;0.006;0.003	T	0.40608	-0.9554	10	0.02654	T	1	-13.3834	7.4408	0.27181	0.532:0.2245:0.2434:0.0	.	97;225;97;157;157;225;225	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	E	225;225;157;156;97	ENSP00000341483:D225E;ENSP00000404837:D225E;ENSP00000034275:D157E;ENSP00000445071:D97E	ENSP00000034275:D157E	D	-	3	2	RANBP3	5882433	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.507000	0.00961	-1.583000	0.01638	-0.182000	0.12963	GAT		0.652	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1		NM_007322		20	27	0	0	0	0.008871	0	20	27		
ICAM5	7087	broad.mit.edu	37	19	10402336	10402336	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:10402336G>A	ENST00000221980.4	+	3	587	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	ICAM5_ENST00000586004.1_3'UTR|CTD-2369P2.8_ENST00000589379.1_RNA	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	175	Ig-like C2-type 2.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAACCACCCCGAGCGCGGGGC	0.731																																						uc002mnu.3		NaN																	0				breast(3)	3						c.(523-525)CGA>CAA		intercellular adhesion molecule 5 precursor							15.0	18.0	17.0					19																	10402336		2155	4247	6402	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10402336G>A	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.524G>A	19.37:g.10402336G>A	ENSP00000221980:p.Arg175Gln					ICAM5_uc002mnv.3_Missense_Mutation_p.R50Q	p.R175Q	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		3	589	+			175			Extracellular (Potential).|Ig-like C2-type 2.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.524G>A	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	g	22.8	4.333074	0.81801	.	.	ENSG00000105376	ENST00000221980	T	0.06371	3.31	5.33	4.29	0.51040	Immunoglobulin-like fold (1);	0.512935	0.17558	N	0.169926	T	0.04634	0.0126	L	0.36672	1.1	0.29704	N	0.839917	D	0.58620	0.983	B	0.40825	0.341	T	0.04427	-1.0952	10	0.07030	T	0.85	-7.045	8.9935	0.36039	0.0989:0.0:0.9011:0.0	.	175	Q9UMF0	ICAM5_HUMAN	Q	175	ENSP00000221980:R175Q	ENSP00000221980:R175Q	R	+	2	0	ICAM5	10263336	0.950000	0.32346	1.000000	0.80357	0.936000	0.57629	3.536000	0.53582	2.519000	0.84933	0.466000	0.42574	CGA		0.731	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1		NM_003259		10	54	0	0	0	0.006214	0	10	54		
UNC13A	23025	broad.mit.edu	37	19	17760337	17760337	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:17760337A>G	ENST00000519716.2	-	13	1498	c.1499T>C	c.(1498-1500)aTc>aCc	p.I500T	UNC13A_ENST00000551649.1_Missense_Mutation_p.I500T|UNC13A_ENST00000252773.7_Missense_Mutation_p.I500T|UNC13A_ENST00000428389.2_Missense_Mutation_p.I588T|UNC13A_ENST00000552293.1_Missense_Mutation_p.I500T|UNC13A_ENST00000550896.1_Missense_Mutation_p.I500T	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	500					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CACGAGTGGGATAGGTTTCCT	0.572																																						uc002nhd.2		NaN																	0				ovary(3)	3						c.(1762-1764)ATC>ACC		unc-13 homolog A							170.0	172.0	171.0					19																	17760337		2120	4236	6356	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17760337A>G	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1499T>C	19.37:g.17760337A>G	ENSP00000429562:p.Ile500Thr						p.I588T	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			14	1763	-			500					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.1763T>C	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	A	19.03	3.748465	0.69533	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	4.25	4.25	0.50352	.	0.204231	0.40064	U	0.001191	T	0.66684	0.2814	M	0.73217	2.22	0.51482	D	0.999923	P	0.38745	0.645	P	0.45071	0.468	T	0.71580	-0.4550	10	0.87932	D	0	-17.5059	11.5573	0.50755	1.0:0.0:0.0:0.0	.	500	Q9UPW8	UN13A_HUMAN	T	500;588;500;500;500;500	ENSP00000429562:I500T;ENSP00000400409:I588T;ENSP00000252773:I500T;ENSP00000447236:I500T;ENSP00000447572:I500T;ENSP00000446831:I500T	ENSP00000252773:I500T	I	-	2	0	UNC13A	17621337	1.000000	0.71417	0.995000	0.50966	0.711000	0.40976	9.023000	0.93683	1.678000	0.50952	0.459000	0.35465	ATC		0.572	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2		XM_038604		38	83	0	0	0	0.023175	0	38	83		
PSG1	5669	broad.mit.edu	37	19	43376193	43376193	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:43376193C>G	ENST00000436291.2	-	3	551	c.435G>C	c.(433-435)gaG>gaC	p.E145D	PSG1_ENST00000244296.2_Missense_Mutation_p.E145D|PSG1_ENST00000595356.1_Missense_Mutation_p.E145D|PSG1_ENST00000312439.6_Missense_Mutation_p.E145D|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000403380.3_Intron	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	145					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GCTTAGGAGTCTCCACTGTGC	0.522																																						uc002ovb.2		NaN																	0		p.E145G(1)		ovary(2)	2						c.(433-435)GAG>GAC		pregnancy specific beta-1-glycoprotein 1							136.0	130.0	132.0					19																	43376193		2201	4299	6500	SO:0001583	missense	5669				female pregnancy	extracellular region		g.chr19:43376193C>G		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.435G>C	19.37:g.43376193C>G	ENSP00000413041:p.Glu145Asp					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.E145D|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.E145D|PSG1_uc010eio.1_Missense_Mutation_p.E145D|PSG1_uc002oux.1_Missense_Mutation_p.E74D|PSG1_uc002ouy.1_Missense_Mutation_p.E145D|PSG1_uc002ouz.1_Missense_Mutation_p.E145D|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Missense_Mutation_p.E145D	p.E145D	NM_006905	NP_008836	P11464	PSG1_HUMAN			3	573	-		Prostate(69;0.00682)	145					O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.435G>C	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	6.157	0.397136	0.11638	.	.	ENSG00000231924	ENST00000436291;ENST00000312439;ENST00000244296	T;T;T	0.38077	1.16;1.16;1.21	1.46	-1.49	0.08718	Immunoglobulin subtype (1);	.	.	.	.	T	0.41719	0.1171	M	0.90595	3.13	0.09310	N	1	B;B;B;B;B;P;B	0.36483	0.076;0.0;0.0;0.0;0.002;0.555;0.001	B;B;B;B;B;B;B	0.39805	0.138;0.006;0.007;0.006;0.017;0.31;0.022	T	0.45026	-0.9289	9	0.54805	T	0.06	.	2.3615	0.04308	0.0:0.4082:0.3352:0.2567	.	145;145;145;145;145;145;145	O75238;P11464-4;P11464;P11464-3;Q9UPK8;O75237;P11464-2	.;.;PSG1_HUMAN;.;.;.;.	D	145	ENSP00000413041:E145D;ENSP00000308970:E145D;ENSP00000244296:E145D	ENSP00000244296:E145D	E	-	3	2	PSG1	48068033	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.527000	0.06200	-0.109000	0.12044	0.184000	0.17185	GAG		0.522	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1				28	330	0	0	0	0.024334	0	28	330		
KLC3	147700	broad.mit.edu	37	19	45854218	45854218	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:45854218G>C	ENST00000391946.2	+	12	1488	c.1386G>C	c.(1384-1386)aaG>aaC	p.K462N	KLC3_ENST00000585434.1_Missense_Mutation_p.K461N|ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000470402.1_Missense_Mutation_p.K476N	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	462					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GCAGAATGAAGAGAGCCATGT	0.552																																						uc002pbf.1		NaN																	0				ovary(1)	1						c.(1384-1386)AAG>AAC		kinesin light chain 3							59.0	58.0	59.0					19																	45854218		2033	4197	6230	SO:0001583	missense	147700					cytoplasm|kinesin complex|microtubule	microtubule motor activity	g.chr19:45854218G>C	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.1386G>C	19.37:g.45854218G>C	ENSP00000375810:p.Lys462Asn					KLC3_uc010ejy.1_Missense_Mutation_p.K461N|KLC3_uc002pbg.1_Missense_Mutation_p.K476N	p.K462N	NM_177417	NP_803136	Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	12	1501	+		Ovarian(192;0.0728)|all_neural(266;0.112)	462					A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	ENST00000391946.2	37	c.1386G>C	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077671	0.55753	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	D;D	0.88975	-2.42;-2.45	3.69	3.69	0.42338	.	0.000000	0.64402	U	0.000007	D	0.91600	0.7346	L	0.55213	1.73	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.78314	0.991;0.991;0.981	D	0.90838	0.4721	10	0.46703	T	0.11	-33.1228	11.124	0.48306	0.0:0.0:1.0:0.0	.	461;476;462	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	N	462;476	ENSP00000375810:K462N;ENSP00000436019:K476N	ENSP00000375810:K462N	K	+	3	2	KLC3	50546058	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	3.532000	0.53553	2.077000	0.62373	0.462000	0.41574	AAG		0.552	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1		NM_145275		9	94	0	0	0	0.006214	0	9	94		
PPP1R13L	10848	broad.mit.edu	37	19	45895561	45895561	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:45895561C>T	ENST00000418234.2	-	8	1470	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	PPP1R13L_ENST00000360957.5_Silent_p.P464P	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	464	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCTCTATCTCCGGCTCAGGCT	0.647																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.2		NaN																	0				skin(1)	1						c.(1390-1392)CCG>CCA		protein phosphatase 1, regulatory subunit 13							24.0	28.0	27.0					19																	45895561		2185	4252	6437	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45895561C>T	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1392G>A	19.37:g.45895561C>T						PPP1R13L_uc002pbm.2_Silent_p.P43P|PPP1R13L_uc002pbo.2_Silent_p.P464P	p.P464P	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	8	1469	-		all_neural(266;0.224)|Ovarian(192;0.231)	464			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.1392G>A	CCDS33050.1																																																																																				0.647	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1		NM_006663		13	82	0	0	0	0.016723	0	13	82		
ZNF419	79744	broad.mit.edu	37	19	58005153	58005153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:58005153G>T	ENST00000221735.7	+	5	1414	c.1228G>T	c.(1228-1230)Gag>Tag	p.E410*	ZNF419_ENST00000442920.2_Nonsense_Mutation_p.E397*|ZNF419_ENST00000426954.2_Nonsense_Mutation_p.E398*|ZNF419_ENST00000347466.6_Nonsense_Mutation_p.E378*|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Splice_Site|ZNF419_ENST00000415379.2_Nonsense_Mutation_p.E364*|ZNF419_ENST00000424930.2_Nonsense_Mutation_p.E411*			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		ATTCTTTAGAGAGAATTCCAC	0.418																																						uc002qov.2		NaN																	0					0						c.(1228-1230)GAG>TAG		zinc finger protein 419 isoform 2							92.0	97.0	95.0					19																	58005153		2201	4299	6500	SO:0001587	stop_gained	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58005153G>T	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1228G>T	19.37:g.58005153G>T	ENSP00000221735:p.Glu410*					ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Nonsense_Mutation_p.E411*|ZNF419_uc010etz.1_Nonsense_Mutation_p.E398*|ZNF419_uc010eua.1_Nonsense_Mutation_p.E397*|ZNF419_uc002qow.2_Nonsense_Mutation_p.E378*|ZNF419_uc010eub.1_Nonsense_Mutation_p.E365*|ZNF419_uc010euc.1_Nonsense_Mutation_p.E364*	p.E410*	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1468	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	410			C2H2-type 8.		B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Nonsense_Mutation	SNP	ENST00000221735.7	37	c.1228G>T	CCDS54326.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|G	6.798|6.798	0.516219|0.516219	0.12944|0.12944	.|.	.|.	ENSG00000105136|ENSG00000105136	ENST00000354197|ENST00000284020;ENST00000424930;ENST00000426954;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	.|.	.|.	.|.	2.19|2.19	-4.38|-4.38	0.03622|0.03622	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.19590	.|T	.|0.45	.|.	6.3639|6.3639	0.21443|0.21443	0.0:0.344:0.299:0.3571|0.0:0.344:0.299:0.3571	.|.	.|.	.|.	.|.	.|X	-1|385;411;398;397;411;378;364;410	.|.	.|ENSP00000221735:E410X	.|E	+|+	.|1	.|0	ZNF419|ZNF419	62696965|62696965	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.502000|0.502000	0.33828|0.33828	-6.839000|-6.839000	0.00052|0.00052	-1.458000|-1.458000	0.01916|0.01916	0.205000|0.205000	0.17691|0.17691	.|GAG		0.418	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1		NM_024691		24	120	1	0	9.57634e-11	0.01892	1.03513e-10	24	120		
PIGF	5281	broad.mit.edu	37	2	46840834	46840834	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:46840834C>G	ENST00000281382.6	-	3	489	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	PIGF_ENST00000495933.1_5'UTR|PIGF_ENST00000306465.4_Splice_Site_p.E107Q	NM_002643.3	NP_002634.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	107					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CAAACTTACTCTATCAGTGGT	0.303																																						uc002rvd.2		NaN																	0					0						c.(319-321)GAG>CAG		phosphatidylinositol glycan anchor biosynthesis,							36.0	35.0	35.0					2																	46840834		2198	4288	6486	SO:0001630	splice_region_variant	5281				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity	g.chr2:46840834C>G		CCDS1827.1, CCDS1828.1	2p21-p16	2013-02-26	2006-06-28		ENSG00000151665	ENSG00000151665		"""Phosphatidylinositol glycan anchor biosynthesis"""	8962	protein-coding gene	gene with protein product		600153	"""phosphatidylinositol glycan, class F"""			8575782, 8463218	Standard	NM_173074		Approved		uc002rvd.3	Q07326	OTTHUMG00000128816	ENST00000281382.6:c.320+1G>C	2.37:g.46840834C>G						PIGF_uc002rvc.2_Missense_Mutation_p.E107Q	p.E107Q	NM_002643	NP_002634	Q07326	PIGF_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		3	483	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	107					Q8WW20	Missense_Mutation	SNP	ENST00000281382.6	37	c.319G>C	CCDS1827.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389022	0.82902	.	.	ENSG00000151665	ENST00000281382;ENST00000306465	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	L	0.60067	1.865	0.58432	D	0.999998	D;P	0.89917	1.0;0.77	D;P	0.77004	0.989;0.468	T	0.71948	-0.4438	9	0.28530	T	0.3	-6.8914	18.8547	0.92247	0.0:1.0:0.0:0.0	.	107;107	Q07326;Q07326-2	PIGF_HUMAN;.	Q	107	.	ENSP00000281382:E107Q	E	-	1	0	PIGF	46694338	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.334000	0.72944	2.543000	0.85770	0.655000	0.94253	GAG		0.303	PIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250749.2		NM_173074	Missense_Mutation	4	15	0	0	0	0.009096	0	4	15		
PIGF	5281	broad.mit.edu	37	2	46842192	46842192	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:46842192C>G	ENST00000281382.6	-	2	282	c.112G>C	c.(112-114)Gaa>Caa	p.E38Q	CRIPT_ENST00000238892.3_5'Flank|PIGF_ENST00000495933.1_5'UTR|PIGF_ENST00000306465.4_Missense_Mutation_p.E38Q	NM_002643.3	NP_002634.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	38					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAGTGTGTTTCCAATATTGAG	0.348																																						uc002rvd.2		NaN																	0					0						c.(112-114)GAA>CAA		phosphatidylinositol glycan anchor biosynthesis,							125.0	125.0	125.0					2																	46842192		2203	4299	6502	SO:0001583	missense	5281				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity	g.chr2:46842192C>G		CCDS1827.1, CCDS1828.1	2p21-p16	2013-02-26	2006-06-28		ENSG00000151665	ENSG00000151665		"""Phosphatidylinositol glycan anchor biosynthesis"""	8962	protein-coding gene	gene with protein product		600153	"""phosphatidylinositol glycan, class F"""			8575782, 8463218	Standard	NM_173074		Approved		uc002rvd.3	Q07326	OTTHUMG00000128816	ENST00000281382.6:c.112G>C	2.37:g.46842192C>G	ENSP00000281382:p.Glu38Gln					PIGF_uc002rvc.2_Missense_Mutation_p.E38Q|CRIPT_uc002rve.2_5'Flank	p.E38Q	NM_002643	NP_002634	Q07326	PIGF_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	276	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	38					Q8WW20	Missense_Mutation	SNP	ENST00000281382.6	37	c.112G>C	CCDS1827.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995216	0.54147	.	.	ENSG00000151665	ENST00000281382;ENST00000306465;ENST00000474980	.	.	.	5.28	5.28	0.74379	.	0.153553	0.56097	D	0.000023	T	0.56804	0.2010	L	0.44542	1.39	0.43326	D	0.995353	B;D	0.53885	0.175;0.963	B;P	0.48270	0.16;0.572	T	0.50303	-0.8844	9	0.13853	T	0.58	-8.7816	18.8774	0.92343	0.0:1.0:0.0:0.0	.	38;38	Q07326;Q07326-2	PIGF_HUMAN;.	Q	38	.	ENSP00000281382:E38Q	E	-	1	0	PIGF	46695696	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.987000	0.63857	2.608000	0.88229	0.650000	0.86243	GAA		0.348	PIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250749.2		NM_173074		20	118	0	0	0	0.008871	0	20	118		
PELI1	57162	broad.mit.edu	37	2	64322381	64322381	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:64322381A>C	ENST00000358912.4	-	7	1154	c.712T>G	c.(712-714)Tta>Gta	p.L238V		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	238					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CCATCTTGTAACTGATTGGTT	0.398																																						uc002scs.3		NaN																	0				ovary(1)	1						c.(712-714)TTA>GTA		pellino protein							46.0	50.0	49.0					2																	64322381		2203	4300	6503	SO:0001583	missense	57162				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		g.chr2:64322381A>C		CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"""Pellino homologs"""	8827	protein-coding gene	gene with protein product		614797	"""pellino (Drosophila) homolog 1"", ""pellino homolog 1 (Drosophila)"""			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.712T>G	2.37:g.64322381A>C	ENSP00000351789:p.Leu238Val					PELI1_uc002sct.3_Missense_Mutation_p.L238V|PELI1_uc002scr.3_Missense_Mutation_p.L59V	p.L238V	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN			6	4751	-			238					Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	ENST00000358912.4	37	c.712T>G	CCDS1876.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.767971	0.49680	.	.	ENSG00000197329	ENST00000358912	T	0.59906	0.23	6.17	3.83	0.44106	.	0.062942	0.64402	D	0.000006	T	0.76069	0.3936	M	0.89095	3.005	0.47737	D	0.999501	D	0.89917	1.0	D	0.91635	0.999	T	0.75836	-0.3177	10	0.87932	D	0	-8.7161	7.2389	0.26086	0.6303:0.0:0.3696:0.0	.	238	Q96FA3	PELI1_HUMAN	V	238	ENSP00000351789:L238V	ENSP00000351789:L238V	L	-	1	2	PELI1	64175885	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.641000	0.46587	0.576000	0.29452	0.533000	0.62120	TTA		0.398	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1		NM_020651		25	43	0	0	0	0.01892	0	25	43		
RETSAT	54884	broad.mit.edu	37	2	85570773	85570773	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:85570773A>T	ENST00000295802.4	-	10	1794	c.1682T>A	c.(1681-1683)cTc>cAc	p.L561H	RETSAT_ENST00000457495.2_Missense_Mutation_p.L500H|RETSAT_ENST00000475624.2_5'Flank|RETSAT_ENST00000263854.6_3'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	561					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGTCAGATAGAGGTTGGGGAT	0.647																																						uc002spd.2		NaN																	0				ovary(2)	2						c.(1681-1683)CTC>CAC		all-trans-13,14-dihydroretinol saturase	Vitamin A(DB00162)						48.0	51.0	50.0					2																	85570773		2201	4300	6501	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85570773A>T	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1682T>A	2.37:g.85570773A>T	ENSP00000295802:p.Leu561His					RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.L500H|RETSAT_uc010fgf.2_Missense_Mutation_p.L352H	p.L561H	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN			10	1873	-			561					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1682T>A	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.90|19.90	3.913310|3.913310	0.72983|0.72983	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000295802;ENST00000457495|ENST00000449375	T;T|.	0.63417|.	-0.04;-0.04|.	4.83|4.83	3.65|3.65	0.41850|0.41850	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79713|0.79713	0.4493|0.4493	M|M	0.92738|0.92738	3.34|3.34	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.999|.	T|T	0.81874|0.81874	-0.0732|-0.0732	10|5	0.87932|.	D|.	0|.	-23.2666|-23.2666	10.1216|10.1216	0.42623|0.42623	0.8312:0.1687:0.0:0.0|0.8312:0.1687:0.0:0.0	.|.	500;500;561|.	G5E9N3;B4DKE1;Q6NUM9|.	.;.;RETST_HUMAN|.	H|T	561;500|350	ENSP00000295802:L561H;ENSP00000405040:L500H|.	ENSP00000295802:L561H|.	L|S	-|-	2|1	0|0	RETSAT|RETSAT	85424284|85424284	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	9.056000|9.056000	0.93881|0.93881	0.778000|0.778000	0.33520|0.33520	-0.466000|-0.466000	0.05196|0.05196	CTC|TCT		0.647	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1		NM_017750		21	36	0	0	0	0.016522	0	21	36		
FHL2	2274	broad.mit.edu	37	2	105979821	105979821	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:105979821G>A	ENST00000409807.1	-	5	943	c.609C>T	c.(607-609)cgC>cgT	p.R203R	AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000393352.3_Silent_p.R203R|FHL2_ENST00000322142.8_Silent_p.R203R|FHL2_ENST00000393353.3_Silent_p.R203R|FHL2_ENST00000344213.4_Silent_p.R313R|FHL2_ENST00000358129.4_Silent_p.R203R|FHL2_ENST00000409177.1_Silent_p.R319R|FHL2_ENST00000408995.1_Silent_p.R203R|FHL2_ENST00000336660.5_Missense_Mutation_p.A145V			Q14192	FHL2_HUMAN	four and a half LIM domains 2	203	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						CAAAGTCATCGCGAGCTGTGA	0.612																																						uc002tcu.2		NaN																	0				ovary(1)	1						c.(607-609)CGC>CGT		four and a half LIM domains 2							66.0	53.0	57.0					2																	105979821		2203	4300	6503	SO:0001819	synonymous_variant	2274				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding	g.chr2:105979821G>A		CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.609C>T	2.37:g.105979821G>A						FHL2_uc002tdc.2_Silent_p.R89R|FHL2_uc002tdd.2_Silent_p.R203R|FHL2_uc002tct.2_Silent_p.R89R|FHL2_uc002tcv.2_Silent_p.R203R|FHL2_uc002tcw.2_Silent_p.R203R|FHL2_uc002tcx.2_Silent_p.R203R|FHL2_uc010fje.2_Silent_p.R116R|FHL2_uc002tcy.2_Silent_p.R203R|FHL2_uc002tcz.2_Silent_p.R313R|FHL2_uc002tda.2_RNA|FHL2_uc002tdb.2_Silent_p.R319R	p.R203R	NM_201557	NP_963851	Q14192	FHL2_HUMAN			5	946	-			203			LIM zinc-binding 3.		Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Silent	SNP	ENST00000409807.1	37	c.609C>T	CCDS2070.1	.	.	.	.	.	.	.	.	.	.	g	0.220	-1.029117	0.02045	.	.	ENSG00000115641	ENST00000336660	T	0.21361	2.01	5.41	-6.68	0.01778	.	.	.	.	.	T	0.13286	0.0322	.	.	.	0.19775	N	0.999953	.	.	.	.	.	.	T	0.35624	-0.9781	6	0.54805	T	0.06	.	1.0226	0.01521	0.2669:0.1978:0.3266:0.2086	.	.	.	.	V	145	ENSP00000338270:A145V	ENSP00000338270:A145V	A	-	2	0	FHL2	105346253	0.000000	0.05858	0.564000	0.28396	0.283000	0.27025	-3.162000	0.00577	-0.999000	0.03442	-1.168000	0.01747	GCG		0.612	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1				4	13	0	0	0	0.009096	0	4	13		
GLI2	2736	broad.mit.edu	37	2	121747574	121747574	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:121747574G>A	ENST00000452319.1	+	14	4144	c.4084G>A	c.(4084-4086)Gct>Act	p.A1362T	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.A1362T					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GATGGGGGTGGCTACAGCAGG	0.697																																						uc010flp.2		NaN																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(4084-4086)GCT>ACT		GLI-Kruppel family member GLI2							11.0	12.0	12.0					2																	121747574		2188	4277	6465	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121747574G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4084G>A	2.37:g.121747574G>A	ENSP00000390436:p.Ala1362Thr					GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.A1034T|GLI2_uc002tmu.3_Missense_Mutation_p.A1017T	p.A1362T	NM_005270	NP_005261	P10070	GLI2_HUMAN			13	4114	+	Renal(3;0.0496)	Prostate(154;0.0623)	1362						Missense_Mutation	SNP	ENST00000452319.1	37	c.4084G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	0.051	-1.249670	0.01469	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.14266	2.52;2.52	4.18	1.31	0.21738	.	0.746189	0.12141	N	0.495820	T	0.08313	0.0207	N	0.22421	0.69	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.12156	0.004;0.007	T	0.41448	-0.9508	9	.	.	.	.	6.9385	0.24481	0.0803:0.0:0.4739:0.4458	.	1362;1017	P10070;P10070-2	GLI2_HUMAN;.	T	1362	ENSP00000390436:A1362T;ENSP00000354586:A1362T	.	A	+	1	0	GLI2	121464044	0.000000	0.05858	0.004000	0.12327	0.030000	0.12068	0.300000	0.19156	0.068000	0.16574	-0.538000	0.04264	GCT		0.697	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3		NM_005270		4	7	0	0	0	0.009096	0	4	7		
PDE11A	50940	broad.mit.edu	37	2	178936981	178936981	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:178936981C>T	ENST00000286063.6	-	1	501	c.184G>A	c.(184-186)Gct>Act	p.A62T	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	62					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	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)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GTGCTGTGAGCCAAGCTGCTG	0.627									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(184-186)GCT>ACT		phosphodiesterase 11A isoform 4							39.0	31.0	34.0					2																	178936981		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936981C>T	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.184G>A	2.37:g.178936981C>T	ENSP00000286063:p.Ala62Thr					PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	p.A62T	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		1	502	-			62					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.184G>A	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452231	0.26074	.	.	ENSG00000128655	ENST00000286063	T	0.66815	-0.23	4.68	2.85	0.33270	.	1.671650	0.02747	N	0.116951	T	0.44244	0.1284	N	0.03608	-0.345	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.35176	-0.9799	10	0.14252	T	0.57	.	8.2378	0.31636	0.0:0.8086:0.0:0.1914	.	62	Q9HCR9	PDE11_HUMAN	T	62	ENSP00000286063:A62T	ENSP00000286063:A62T	A	-	1	0	PDE11A	178645227	0.001000	0.12720	0.001000	0.08648	0.552000	0.35366	0.610000	0.24253	0.390000	0.25115	0.591000	0.81541	GCT		0.627	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2				9	16	0	0	0	0.004482	0	9	16		
REM1	28954	broad.mit.edu	37	20	30071976	30071976	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr20:30071976G>A	ENST00000201979.2	+	5	933	c.640G>A	c.(640-642)Gct>Act	p.A214T	LINC00028_ENST00000435497.1_lincRNA	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	214					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCGCGCCTGCGCTGTGGTGTT	0.617																																						uc002wwa.2		NaN																	0				lung(2)|pancreas(2)	4						c.(640-642)GCT>ACT		RAS-like GTP-binding protein REM							13.0	15.0	14.0					20																	30071976		2176	4259	6435	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30071976G>A	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.640G>A	20.37:g.30071976G>A	ENSP00000201979:p.Ala214Thr					NCRNA00028_uc010ztn.1_5'Flank	p.A214T	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		5	924	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		214					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.640G>A	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	G	36	5.660330	0.96734	.	.	ENSG00000088320	ENST00000201979	D	0.82167	-1.58	5.22	5.22	0.72569	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94598	0.8259	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96234	0.9170	10	0.87932	D	0	.	17.9589	0.89078	0.0:0.0:1.0:0.0	.	214	O75628	REM1_HUMAN	T	214	ENSP00000201979:A214T	ENSP00000201979:A214T	A	+	1	0	REM1	29535637	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.080000	0.94040	2.695000	0.91970	0.561000	0.74099	GCT		0.617	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2		NM_014012		10	6	0	0	0	0.013537	0	10	6		
ZMYND8	23613	broad.mit.edu	37	20	45905274	45905274	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr20:45905274C>G	ENST00000311275.7	-	11	1457	c.1204G>C	c.(1204-1206)Gac>Cac	p.D402H	ZMYND8_ENST00000262975.4_Missense_Mutation_p.D402H|ZMYND8_ENST00000536340.1_Missense_Mutation_p.D429H|ZMYND8_ENST00000471951.2_Missense_Mutation_p.D422H|ZMYND8_ENST00000396281.4_Missense_Mutation_p.D402H|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.D402H|ZMYND8_ENST00000446994.2_Missense_Mutation_p.D339H|ZMYND8_ENST00000372023.3_Missense_Mutation_p.D397H|ZMYND8_ENST00000458360.2_Missense_Mutation_p.D397H|ZMYND8_ENST00000352431.2_Missense_Mutation_p.D422H|ZMYND8_ENST00000360911.3_Missense_Mutation_p.D397H|ZMYND8_ENST00000540497.1_Missense_Mutation_p.D397H|ZMYND8_ENST00000461685.1_Missense_Mutation_p.D422H	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	402					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCCGTCATGTCAAAGTTGAGC	0.582																																						uc002xta.1		NaN																	0				central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(1204-1206)GAC>CAC		zinc finger, MYND-type containing 8 isoform b							147.0	126.0	133.0					20																	45905274		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45905274C>G	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1204G>C	20.37:g.45905274C>G	ENSP00000312237:p.Asp402His					ZMYND8_uc010ghq.1_Missense_Mutation_p.D79H|ZMYND8_uc010ghr.1_Missense_Mutation_p.D377H|ZMYND8_uc002xst.1_Missense_Mutation_p.D377H|ZMYND8_uc002xsu.1_Missense_Mutation_p.D402H|ZMYND8_uc002xsv.1_Missense_Mutation_p.D377H|ZMYND8_uc002xsw.1_Missense_Mutation_p.D154H|ZMYND8_uc002xsx.1_Missense_Mutation_p.D154H|ZMYND8_uc002xsy.1_Missense_Mutation_p.D377H|ZMYND8_uc002xsz.1_Missense_Mutation_p.D339H|ZMYND8_uc010zxy.1_Missense_Mutation_p.D429H|ZMYND8_uc002xtb.1_Missense_Mutation_p.D422H|ZMYND8_uc002xss.2_Missense_Mutation_p.D402H|ZMYND8_uc010zxz.1_Missense_Mutation_p.D397H|ZMYND8_uc002xtc.1_Missense_Mutation_p.D422H|ZMYND8_uc002xtd.1_Missense_Mutation_p.D397H|ZMYND8_uc002xte.1_Missense_Mutation_p.D402H|ZMYND8_uc010zya.1_Missense_Mutation_p.D402H|ZMYND8_uc002xtf.1_Missense_Mutation_p.D422H|ZMYND8_uc002xtg.2_Missense_Mutation_p.D396H|ZMYND8_uc010ghs.1_Missense_Mutation_p.D396H	p.D402H	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		11	1458	-			402					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.1204G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.776280|4.776280	0.90195|0.90195	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.95342|.	-2.74;-2.59;-2.68;-2.66;-2.62;-2.64;-2.72;-2.62;-2.6;-3.68;-2.68;-2.74;-1.95|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73218|.	0.3559|.	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999|.	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.998;0.999;0.999;0.999;0.999;0.999;0.998;1.0;0.999;0.998;1.0;0.999;0.999;0.999;0.999;0.999;0.988;0.991|.	T|.	0.69465|.	-0.5138|.	10|.	0.66056|.	D|.	0.02|.	-17.1141|-17.1141	19.7096|19.7096	0.96089|0.96089	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	397;429;397;397;377;396;422;402;397;422;422;402;339;397;397;422;397;402|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	H|S	397;402;397;402;422;422;402;429;402;339;422;397;397|328	ENSP00000354166:D397H;ENSP00000312237:D402H;ENSP00000392964:D397H;ENSP00000262975:D402H;ENSP00000420095:D422H;ENSP00000335537:D422H;ENSP00000379577:D402H;ENSP00000439800:D429H;ENSP00000348246:D402H;ENSP00000396725:D339H;ENSP00000418210:D422H;ENSP00000361093:D397H;ENSP00000443086:D397H|.	ENSP00000262975:D402H|.	D|X	-|-	1|2	0|2	ZMYND8|ZMYND8	45338681|45338681	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.991000|0.991000	0.79684|0.79684	7.711000|7.711000	0.84669|0.84669	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GAC|TGA		0.582	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2		NM_183047		40	133	0	0	0	0.009718	0	40	133		
ABHD16B	140701	broad.mit.edu	37	20	62493636	62493636	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr20:62493636T>C	ENST00000369916.3	+	1	1071	c.743T>C	c.(742-744)gTt>gCt	p.V248A	C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000369927.4_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	248							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						GGCTGGTCTGTTGGCGGCTTC	0.672																																						uc002ygx.1		NaN																	0					0						c.(742-744)GTT>GCT		hypothetical protein LOC140701							34.0	26.0	29.0					20																	62493636		2198	4295	6493	SO:0001583	missense	140701						hydrolase activity	g.chr20:62493636T>C		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.743T>C	20.37:g.62493636T>C	ENSP00000358932:p.Val248Ala					TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank	p.V248A	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN			1	1071	+	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)		248						Missense_Mutation	SNP	ENST00000369916.3	37	c.743T>C	CCDS13539.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.162670	0.38217	.	.	ENSG00000183260	ENST00000369916	T	0.39787	1.06	4.89	4.89	0.63831	.	0.118006	0.52532	D	0.000061	T	0.29850	0.0746	N	0.17082	0.46	0.32241	N	0.572717	B	0.22909	0.077	B	0.25987	0.065	T	0.41770	-0.9490	10	0.87932	D	0	-13.0149	12.4529	0.55686	0.0:0.0:0.0:1.0	.	248	Q9H3Z7	ABHGB_HUMAN	A	248	ENSP00000358932:V248A	ENSP00000358932:V248A	V	+	2	0	ABHD16B	61964080	0.938000	0.31826	0.217000	0.23759	0.448000	0.32197	4.054000	0.57434	1.837000	0.53436	0.260000	0.18958	GTT		0.672	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1				7	18	0	0	0	0.00308	0	7	18		
PNPLA3	80339	broad.mit.edu	37	22	44333050	44333050	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr22:44333050G>C	ENST00000216180.3	+	6	1050	c.877G>C	c.(877-879)Gct>Cct	p.A293P	PNPLA3_ENST00000423180.2_Missense_Mutation_p.A289P	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	293					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				GGCTGCCTTGGCTGTGAGGCT	0.617																																						uc003bei.1		NaN																	0					0						c.(877-879)GCT>CCT		patatin-like phospholipase domain containing 3							105.0	84.0	91.0					22																	44333050		2203	4300	6503	SO:0001583	missense	80339				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity	g.chr22:44333050G>C		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.877G>C	22.37:g.44333050G>C	ENSP00000216180:p.Ala293Pro					PNPLA3_uc010gzm.1_RNA	p.A293P	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN			6	1050	+		Ovarian(80;0.024)|all_neural(38;0.0416)	293			Lumenal (Potential).		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	c.877G>C	CCDS14054.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313399	0.23908	.	.	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.30182	1.54;1.55	3.7	-1.2	0.09554	.	.	.	.	.	T	0.13243	0.0321	N	0.22421	0.69	0.09310	N	1	P	0.45126	0.851	B	0.35813	0.211	T	0.14117	-1.0484	9	0.30854	T	0.27	-0.1582	1.9895	0.03443	0.1065:0.1711:0.3719:0.3504	.	293	Q9NST1	PLPL3_HUMAN	P	293;289	ENSP00000216180:A293P;ENSP00000397987:A289P	ENSP00000216180:A293P	A	+	1	0	PNPLA3	42664383	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.317000	0.08060	-0.232000	0.09811	0.462000	0.41574	GCT		0.617	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1		NM_025225		10	29	0	0	0	0.006214	0	10	29		
HACL1	26061	broad.mit.edu	37	3	15621475	15621475	+	Missense_Mutation	SNP	T	T	C	rs376301747		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:15621475T>C	ENST00000321169.5	-	9	1112	c.745A>G	c.(745-747)Atg>Gtg	p.M249V	HACL1_ENST00000457447.2_Missense_Mutation_p.M223V|HACL1_ENST00000451445.2_Missense_Mutation_p.M167V|HACL1_ENST00000456194.2_Missense_Mutation_p.M222V|HACL1_ENST00000435217.2_Intron	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	249					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CCCTTCCCCATAGGGGTGGGC	0.443																																						uc003caf.2		NaN																	0					0						c.(745-747)ATG>GTG		2-hydroxyphytanoyl-CoA lyase		T	VAL/MET	0,4406		0,0,2203	111.0	101.0	105.0		745	5.7	1.0	3		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	HACL1	NM_012260.2	21	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	249/579	15621475	1,13005	2203	4300	6503	SO:0001583	missense	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15621475T>C	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.745A>G	3.37:g.15621475T>C	ENSP00000323811:p.Met249Val					HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.M222V|HACL1_uc011avt.1_Missense_Mutation_p.M223V|HACL1_uc003cag.2_5'UTR|HACL1_uc011avu.1_Missense_Mutation_p.M167V|HACL1_uc010hep.2_Intron	p.M249V	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN			9	905	-			249					B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	37	c.745A>G	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.497593	0.85069	0.0	1.16E-4	ENSG00000131373	ENST00000321169;ENST00000451445;ENST00000456194;ENST00000457447;ENST00000421993	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.65	5.65	0.86999	Thiamine pyrophosphate enzyme, central domain (1);	0.000000	0.85682	D	0.000000	T	0.80076	0.4557	H	0.97315	3.98	0.80722	D	1	D;D;D;D	0.89917	0.992;1.0;1.0;1.0	D;D;D;D	0.91635	0.987;0.999;0.999;0.994	D	0.87355	0.2340	10	0.87932	D	0	.	15.5267	0.75915	0.0:0.0:0.0:1.0	.	167;223;222;249	B4DXI5;E9PEN4;B4DWI1;Q9UJ83	.;.;.;HACL1_HUMAN	V	249;167;222;223;222	ENSP00000323811:M249V;ENSP00000403656:M167V;ENSP00000390699:M222V;ENSP00000404883:M223V;ENSP00000391393:M222V	ENSP00000323811:M249V	M	-	1	0	HACL1	15596479	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	7.338000	0.79269	2.149000	0.67028	0.460000	0.39030	ATG		0.443	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3		NM_012260		36	55	0	0	0	0.015359	0	36	55		
GALNT15	117248	broad.mit.edu	37	3	16268952	16268952	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:16268952G>T	ENST00000339732.5	+	10	2368	c.1865G>T	c.(1864-1866)gGa>gTa	p.G622V	GALNT15_ENST00000437509.1_Intron	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	622	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CCGTGTGATGGAAAAGCCCGC	0.428																																						uc003car.3		NaN																	0				breast(1)	1						c.(1864-1866)GGA>GTA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							121.0	121.0	121.0					3																	16268952		2203	4300	6503	SO:0001583	missense	117248					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr3:16268952G>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1865G>T	3.37:g.16268952G>T	ENSP00000344260:p.Gly622Val					GALNTL2_uc003caq.3_Missense_Mutation_p.G355V|GALNTL2_uc003cas.3_Missense_Mutation_p.G152V	p.G622V	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN			10	2340	+			622			Ricin B-type lectin.|Lumenal (Potential).		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.1865G>T	CCDS33711.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.51|13.51|13.51	2.258280|2.258280|2.258280	0.39896|0.39896|0.39896	.|.|.	.|.|.	ENSG00000131386|ENSG00000131386|ENSG00000131386	ENST00000543679|ENST00000543679|ENST00000339732	.|.|T	.|.|0.37752	.|.|1.18	5.4|5.4|5.4	3.59|3.59|3.59	0.41128|0.41128|0.41128	.|.|Ricin B-related lectin (1);Ricin B lectin (3);	.|.|0.447823	.|.|0.25296	.|.|N	.|.|0.031684	.|.|T	.|.|0.44052	.|.|0.1275	M|M|M	0.78637|0.78637|0.78637	2.42|2.42|2.42	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	.|.|P	.|.|0.44521	.|.|0.837	.|.|P	.|.|0.47603	.|.|0.551	.|.|T	.|.|0.41928	.|.|-0.9481	.|.|10	.|0.08179|0.49607	.|T|T	.|0.78|0.09	.|.|.	7.5401|7.5401|7.5401	0.27733|0.27733|0.27733	0.1912:0.0:0.8088:0.0|0.1912:0.0:0.8088:0.0|0.1912:0.0:0.8088:0.0	.|.|.	.|.|622	.|.|Q8N3T1	.|.|GLTL2_HUMAN	.|X|V	-1|152|622	.|.|ENSP00000344260:G622V	.|ENSP00000445852:E152X|ENSP00000344260:G622V	.|E|G	+|+|+	.|1|2	.|0|0	GALNTL2|GALNTL2|GALNTL2	16243956|16243956|16243956	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	0.887000|0.887000|0.887000	0.34795|0.34795|0.34795	0.066000|0.066000|0.066000	0.16364|0.16364|0.16364	3.252000|3.252000|3.252000	0.51461|0.51461|0.51461	1.403000|1.403000|1.403000	0.46800|0.46800|0.46800	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|GAA|GGA		0.428	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2		NM_054110		19	30	1	0	1.10513e-12	0.014323	1.23012e-12	19	30		
ZNF35	7584	broad.mit.edu	37	3	44692638	44692638	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:44692638G>A	ENST00000396056.2	+	2	314	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	ZNF35_ENST00000542250.1_5'UTR|ZNF35_ENST00000453164.1_Missense_Mutation_p.E27K|ZNF35_ENST00000296092.3_Missense_Mutation_p.E27K|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000399560.2_Missense_Mutation_p.E27K	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	27	Globular domain.|Poly-Glu.				cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GGAAGAAGAAGAAAACTTCCC	0.542																																						uc003cnq.2		NaN																	0					0						c.(79-81)GAA>AAA		zinc finger protein 35							62.0	61.0	61.0					3																	44692638		2203	4300	6503	SO:0001583	missense	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44692638G>A	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.79G>A	3.37:g.44692638G>A	ENSP00000379368:p.Glu27Lys					ZNF35_uc003cnr.2_5'UTR	p.E27K	NM_003420	NP_003411	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	2	300	+		Ovarian(412;0.0228)	27			Globular domain.|Poly-Glu.		B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	c.79G>A	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244101	0.59103	.	.	ENSG00000169981	ENST00000396056;ENST00000415571;ENST00000432115;ENST00000296092;ENST00000399560;ENST00000453164	T	0.10192	2.9	4.61	3.72	0.42706	.	0.187183	0.26258	N	0.025415	T	0.07052	0.0179	N	0.24115	0.695	0.23978	N	0.996286	B	0.27498	0.18	B	0.22753	0.041	T	0.22277	-1.0221	10	0.62326	D	0.03	-5.129	8.0226	0.30419	0.1105:0.0:0.8895:0.0	.	27	P13682	ZNF35_HUMAN	K	27	ENSP00000379368:E27K	ENSP00000296092:E27K	E	+	1	0	ZNF35	44667642	0.008000	0.16893	0.022000	0.16811	0.630000	0.37929	1.080000	0.30779	2.298000	0.77334	0.558000	0.71614	GAA		0.542	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4		NM_003420		10	55	0	0	0	0.006214	0	10	55		
ZNF35	7584	broad.mit.edu	37	3	44692740	44692740	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:44692740G>C	ENST00000396056.2	+	2	416	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	ZNF35_ENST00000542250.1_5'UTR|ZNF35_ENST00000453164.1_Missense_Mutation_p.E61Q|ZNF35_ENST00000296092.3_Missense_Mutation_p.E61Q|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000399560.2_Missense_Mutation_p.E61Q	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	61	Globular domain.				cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TGGATCAGAAGAGGAAGAAAA	0.537																																						uc003cnq.2		NaN																	0					0						c.(181-183)GAG>CAG		zinc finger protein 35							46.0	49.0	48.0					3																	44692740		2203	4300	6503	SO:0001583	missense	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44692740G>C	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.181G>C	3.37:g.44692740G>C	ENSP00000379368:p.Glu61Gln					ZNF35_uc003cnr.2_5'UTR	p.E61Q	NM_003420	NP_003411	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	2	402	+		Ovarian(412;0.0228)	61			Globular domain.		B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	c.181G>C	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	G	2.438	-0.329331	0.05314	.	.	ENSG00000169981	ENST00000396056;ENST00000415571;ENST00000432115;ENST00000296092;ENST00000399560;ENST00000453164	T	0.07444	3.19	4.8	1.81	0.25067	.	0.392593	0.18674	N	0.134367	T	0.03390	0.0098	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44483	-0.9325	10	0.33141	T	0.24	-0.0811	7.2989	0.26409	0.0:0.3143:0.5584:0.1273	.	61	P13682	ZNF35_HUMAN	Q	61	ENSP00000379368:E61Q	ENSP00000296092:E61Q	E	+	1	0	ZNF35	44667744	1.000000	0.71417	0.864000	0.33941	0.846000	0.48090	1.079000	0.30766	0.568000	0.29311	0.563000	0.77884	GAG		0.537	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4		NM_003420		5	38	0	0	0	0.014758	0	5	38		
TDGF1	6997	broad.mit.edu	37	3	46621463	46621463	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:46621463G>C	ENST00000296145.5	+	5	1094	c.361G>C	c.(361-363)Gac>Cac	p.D121H	LRRC2_ENST00000296144.3_5'UTR|TDGF1_ENST00000542931.1_Missense_Mutation_p.D105H	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	121					activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	growth factor activity (GO:0008083)|receptor binding (GO:0005102)			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TGTGCCCCATGACACCTGGCT	0.557																																						uc003cpv.2		NaN																	0					0						c.(361-363)GAC>CAC		teratocarcinoma-derived growth factor 1							67.0	62.0	64.0					3																	46621463		2203	4300	6503	SO:0001583	missense	6997				activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity	g.chr3:46621463G>C	M96955	CCDS2742.1, CCDS54575.1	3p21.31	2012-10-03			ENSG00000241186	ENSG00000241186			11701	protein-coding gene	gene with protein product		187395				1882841, 10393436	Standard	NM_003212		Approved	CRIPTO, CR, Cripto-1	uc021wxd.1	P13385	OTTHUMG00000133482	ENST00000296145.5:c.361G>C	3.37:g.46621463G>C	ENSP00000296145:p.Asp121His					LRRC2_uc003cpu.3_5'UTR	p.D121H	NM_003212	NP_003203	P13385	TDGF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	5	641	+			121					Q8TCC1	Missense_Mutation	SNP	ENST00000296145.5	37	c.361G>C	CCDS2742.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769261	0.69992	.	.	ENSG00000241186	ENST00000542931;ENST00000296145	D;D	0.83837	-1.77;-1.77	4.29	4.29	0.51040	Cryptic/Cripto, CFC domain (1);	0.329159	0.30667	N	0.009128	D	0.83059	0.5172	N	0.22421	0.69	0.30568	N	0.763819	D	0.76494	0.999	D	0.65323	0.934	T	0.81733	-0.0798	10	0.72032	D	0.01	.	12.4488	0.55666	0.0:0.0:1.0:0.0	.	121	P13385	TDGF1_HUMAN	H	105;121	ENSP00000446375:D105H;ENSP00000296145:D121H	ENSP00000296145:D121H	D	+	1	0	AC104304.1	46596467	0.993000	0.37304	0.967000	0.41034	0.634000	0.38068	7.189000	0.77747	2.406000	0.81754	0.655000	0.94253	GAC		0.557	TDGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257378.2		NM_003212		12	49	0	0	0	0.010729	0	12	49		
COL7A1	1294	broad.mit.edu	37	3	48623896	48623896	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:48623896G>C	ENST00000328333.8	-	26	3526	c.3419C>G	c.(3418-3420)aCa>aGa	p.T1140R	COL7A1_ENST00000454817.1_Missense_Mutation_p.T1140R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1140	Nonhelical region (NC1).|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTGTGAGCTGTGACCACGGC	0.592																																						uc003ctz.2		NaN																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(3418-3420)ACA>AGA		alpha 1 type VII collagen precursor							138.0	137.0	137.0					3																	48623896		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48623896G>C	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3419C>G	3.37:g.48623896G>C	ENSP00000332371:p.Thr1140Arg						p.T1140R	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	26	3420	-			1140			Nonhelical region (NC1).|VWFA 2.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.3419C>G	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	8.223	0.802983	0.16397	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.83419	-1.72;-1.72	4.88	3.05	0.35203	von Willebrand factor, type A (2);	0.555769	0.15226	N	0.273677	T	0.72415	0.3457	N	0.24115	0.695	0.20307	N	0.999916	P	0.50819	0.939	P	0.46629	0.522	T	0.61618	-0.7026	10	0.36615	T	0.2	.	5.2842	0.15692	0.3484:0.0:0.6516:0.0	.	1140	Q02388	CO7A1_HUMAN	R	1140	ENSP00000332371:T1140R;ENSP00000412569:T1140R	ENSP00000332371:T1140R	T	-	2	0	COL7A1	48598900	0.059000	0.20769	0.723000	0.30687	0.868000	0.49771	1.966000	0.40481	1.177000	0.42855	0.561000	0.74099	ACA		0.592	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094		67	95	0	0	0	0.01441	0	67	95		
HYAL2	8692	broad.mit.edu	37	3	50357493	50357493	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:50357493C>T	ENST00000447092.1	-	1	2720	c.428G>A	c.(427-429)cGc>cAc	p.R143H	HYAL2_ENST00000442581.1_Missense_Mutation_p.R143H|HYAL2_ENST00000395139.3_Missense_Mutation_p.R143H|HYAL2_ENST00000357750.4_Missense_Mutation_p.R143H|TUSC2_ENST00000462137.1_5'UTR			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	143					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTGCCAGTTGCGCACCCACAC	0.592																																						uc003czu.2		NaN																	0				ovary(1)	1						c.(427-429)CGC>CAC		hyaluronoglucosaminidase 2 precursor	Hyaluronidase(DB00070)						93.0	87.0	89.0					3																	50357493		2203	4300	6503	SO:0001583	missense	8692					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity	g.chr3:50357493C>T	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.428G>A	3.37:g.50357493C>T	ENSP00000401853:p.Arg143His					HYAL2_uc003czx.2_Missense_Mutation_p.R143H|HYAL2_uc003czv.2_Missense_Mutation_p.R143H|HYAL2_uc003czw.2_Missense_Mutation_p.R143H|HYAL2_uc010hlj.2_Missense_Mutation_p.R143H	p.R143H	NM_033158	NP_149348	Q12891	HYAL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	648	-			143					B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	37	c.428G>A	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184041	0.78677	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.81	5.81	0.92471	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56307	0.1976	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.59059	-0.7525	10	0.87932	D	0	-29.913	18.6593	0.91467	0.0:1.0:0.0:0.0	.	143;143	B3KRZ2;Q12891	.;HYAL2_HUMAN	H	143	ENSP00000401853:R143H;ENSP00000350387:R143H;ENSP00000378571:R143H;ENSP00000406657:R143H	ENSP00000350387:R143H	R	-	2	0	HYAL2	50332497	1.000000	0.71417	0.995000	0.50966	0.004000	0.04260	7.776000	0.85560	2.752000	0.94435	0.557000	0.71058	CGC		0.592	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1		NM_003773		21	98	0	0	0	0.010504	0	21	98		
GRM2	2912	broad.mit.edu	37	3	51747292	51747292	+	Silent	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:51747292C>G	ENST00000395052.3	+	3	1488	c.1254C>G	c.(1252-1254)ctC>ctG	p.L418L	GRM2_ENST00000442933.2_Silent_p.L418L|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	418					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCGCCGCCTCTACAAGGACT	0.587																																						uc010hlv.2		NaN																	0				lung(1)	1						c.(1252-1254)CTC>CTG		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						27.0	23.0	24.0					3																	51747292		2200	4292	6492	SO:0001819	synonymous_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51747292C>G	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1254C>G	3.37:g.51747292C>G						GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	p.L418L	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	1493	+			418			Extracellular (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	ENST00000395052.3	37	c.1254C>G	CCDS2834.1																																																																																				0.587	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1				9	19	0	0	0	0.004482	0	9	19		
ALAS1	211	broad.mit.edu	37	3	52248035	52248035	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:52248035G>C	ENST00000394965.2	+	12	2122		c.e12-1		ALAS1_ENST00000310271.2_Splice_Site|ALAS1_ENST00000484952.1_Splice_Site|ALAS1_ENST00000469224.1_Splice_Site	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1						cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	TTTCTCCTCAGAGAATCTGCT	0.408																																						uc003dcy.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.e12-1		5-aminolevulinate synthase 1 precursor	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						52.0	49.0	50.0					3																	52248035		2203	4300	6503	SO:0001630	splice_region_variant	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52248035G>C	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1763-1G>C	3.37:g.52248035G>C						ALAS1_uc003dcz.1_Splice_Site_p.E588_splice|ALAS1_uc011bec.1_Splice_Site_p.E605_splice	p.E588_splice	NM_000688	NP_000679	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	12	2100	+									Splice_Site	SNP	ENST00000394965.2	37	c.1763_splice	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023352	0.75390	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952;ENST00000493402	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5987	0.91239	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALAS1	52223075	1.000000	0.71417	0.999000	0.59377	0.789000	0.44602	9.855000	0.99526	2.379000	0.81126	0.655000	0.94253	.		0.408	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			Intron	11	46	0	0	0	0.010729	0	11	46		
PLXND1	23129	broad.mit.edu	37	3	129304863	129304863	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:129304863C>T	ENST00000324093.4	-	5	1961	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K	PLXND1_ENST00000393239.1_Missense_Mutation_p.E595K	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	595					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTGGGGCCCTCGCTGGCACTG	0.657																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NaN																	0				large_intestine(1)	1						c.(1783-1785)GAG>AAG		plexin D1 precursor							88.0	94.0	92.0					3																	129304863		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129304863C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.1783G>A	3.37:g.129304863C>T	ENSP00000317128:p.Glu595Lys						p.E595K	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			5	1883	-			595			Extracellular (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.1783G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754386	0.49362	.	.	ENSG00000004399	ENST00000324093;ENST00000393239;ENST00000505237	T;T;T	0.16897	2.31;2.31;2.88	5.13	4.26	0.50523	.	0.399821	0.24483	N	0.038129	T	0.19287	0.0463	M	0.62016	1.91	0.46631	D	0.999138	B	0.17667	0.023	B	0.16289	0.015	T	0.02352	-1.1172	10	0.46703	T	0.11	.	11.0372	0.47808	0.0:0.9141:0.0:0.0859	.	595	Q9Y4D7	PLXD1_HUMAN	K	595;595;147	ENSP00000317128:E595K;ENSP00000376931:E595K;ENSP00000426241:E147K	ENSP00000317128:E595K	E	-	1	0	PLXND1	130787553	0.998000	0.40836	0.739000	0.30968	0.486000	0.33341	2.729000	0.47327	1.169000	0.42739	0.561000	0.74099	GAG		0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4		NM_015103		24	94	0	0	0	0.016522	0	24	94		
NDUFB5	4711	broad.mit.edu	37	3	179322629	179322629	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:179322629G>T	ENST00000259037.3	+	1	140	c.26G>T	c.(25-27)cGg>cTg	p.R9L	MRPL47_ENST00000259038.2_5'Flank|MRPL47_ENST00000392659.2_5'Flank|NDUFB5_ENST00000472629.1_Missense_Mutation_p.R9L|MRPL47_ENST00000476781.1_5'Flank|NDUFB5_ENST00000493866.1_Missense_Mutation_p.R9L	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	9					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R9P(1)		endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TTGTTGCGGCGGGTTTCGGTT	0.607																																						uc003fkc.2		NaN																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(25-27)CGG>CTG		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						38.0	39.0	39.0					3																	179322629		2203	4300	6503	SO:0001583	missense	4711				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:179322629G>T	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"""Mitochondrial respiratory chain complex / Complex I"""	7700	protein-coding gene	gene with protein product	"""complex I SGDH subunit"""	603841	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"""			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.26G>T	3.37:g.179322629G>T	ENSP00000259037:p.Arg9Leu					MRPL47_uc003fjz.2_5'Flank|MRPL47_uc003fka.2_5'Flank|MRPL47_uc003fkb.2_5'Flank|NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Missense_Mutation_p.R9L	p.R9L	NM_002492	NP_002483	O43674	NDUB5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		1	55	+	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		9					Q561V6	Missense_Mutation	SNP	ENST00000259037.3	37	c.26G>T	CCDS3234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.50|16.50	3.139601|3.139601	0.56936|0.56936	.|.	.|.	ENSG00000136521|ENSG00000136521	ENST00000482604|ENST00000259037;ENST00000493866;ENST00000472629	.|T;T;T	.|0.62788	.|0.9;-0.0;0.9	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.148610	.|0.48767	.|D	.|0.000168	T|T	0.79215|0.79215	0.4408|0.4408	M|M	0.74881|0.74881	2.28|2.28	0.42656|0.42656	D|D	0.993464|0.993464	.|D;D	.|0.89917	.|1.0;0.984	.|D;P	.|0.81914	.|0.995;0.777	T|T	0.79446|0.79446	-0.1800|-0.1800	6|10	0.87932|0.54805	D|T	0|0.06	-14.8355|-14.8355	17.2187|17.2187	0.86951|0.86951	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|9;9	.|Q561V6;O43674	.|.;NDUB5_HUMAN	W|L	6|9	.|ENSP00000259037:R9L;ENSP00000419656:R9L;ENSP00000419248:R9L	ENSP00000419099:G1W|ENSP00000259037:R9L	G|R	+|+	1|2	0|0	NDUFB5|NDUFB5	180805323|180805323	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.015000|0.015000	0.08874|0.08874	4.056000|4.056000	0.57448|0.57448	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GGG|CGG		0.607	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2		NM_002492		9	37	1	0	0.00621372	0.006214	0.0064197	9	37		
FGFR3	2261	broad.mit.edu	37	4	1803704	1803704	+	Silent	SNP	T	T	C	rs2234909	byFrequency	TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:1803704T>C	ENST00000260795.2	+	6	984	c.882T>C	c.(880-882)aaT>aaC	p.N294N	FGFR3_ENST00000412135.2_Silent_p.N294N|FGFR3_ENST00000340107.4_Silent_p.N294N|FGFR3_ENST00000440486.2_Silent_p.N294N|FGFR3_ENST00000481110.2_Silent_p.N294N|FGFR3_ENST00000352904.1_Silent_p.N294N|FGFR3_ENST00000474521.1_3'UTR			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	294	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.N294N(5)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	TGGAGGTGAATGGCAGCAAGG	0.672		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				N|||	1039	0.207468	0.3707	0.1441	5008	,	,		12849	0.0744		0.17	False		,,,				2504	0.2076					uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		5	Substitution - coding silent(5)	p.N294N(5)	upper_aerodigestive_tract(3)|skin(2)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600						c.(880-882)AAT>AAC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)	C	,,	1504,2902	654.3+/-399.7	251,1002,950	47.0	42.0	44.0		882,882,882	-6.8	0.9	4	dbSNP_98	44	1278,7320	749.7+/-407.4	98,1082,3119	no	coding-synonymous,coding-synonymous,coding-synonymous	FGFR3	NM_000142.4,NM_001163213.1,NM_022965.3	,,	349,2084,4069	CC,CT,TT		14.8639,34.1353,21.3934	,,	294/807,294/809,294/695	1803704	2782,10222	2203	4299	6502	SO:0001819	synonymous_variant	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803704T>C	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.882T>C	4.37:g.1803704T>C						FGFR3_uc003gdu.2_Silent_p.N294N|FGFR3_uc003gds.3_Silent_p.N294N|FGFR3_uc003gdq.3_Silent_p.N294N|FGFR3_uc010icb.1_Intron|FGFR3_uc003gdt.1_Silent_p.N136N	p.N294N	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1138	+		Breast(71;0.212)|all_epithelial(65;0.241)	294			Ig-like C2-type 3.|Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	ENST00000260795.2	37	c.882T>C	CCDS3353.1																																																																																				0.672	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		6	23	0	0	0	0.021553	0	6	23		
NELFA	7469	broad.mit.edu	37	4	1985773	1985773	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:1985773C>T	ENST00000411638.2	-	9	1119	c.1104G>A	c.(1102-1104)gcG>gcA	p.A368A	MIR943_ENST00000401286.1_RNA|NELFA_ENST00000382882.3_Silent_p.A379A|NELFA_ENST00000542778.1_Silent_p.A233A	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	368					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										GCTTGAACTGCGCTGGCAACG	0.716																																						uc003gem.2		NaN																	0				skin(1)	1						c.(1135-1137)GCG>GCA		Wolf-Hirschhorn syndrome candidate 2 protein							17.0	21.0	20.0					4																	1985773		2195	4294	6489	SO:0001819	synonymous_variant	7469				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		g.chr4:1985773C>T	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1104G>A	4.37:g.1985773C>T						WHSC2_uc003gek.2_Silent_p.A105A|WHSC2_uc003gel.2_Silent_p.A293A|WHSC2_uc003gen.2_Silent_p.A233A	p.A379A	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		9	1377	-			368					A2A2T1|O95392	Silent	SNP	ENST00000411638.2	37	c.1137G>A																																																																																					0.716	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1		NM_005663		4	14	0	0	0	0.009096	0	4	14		
RGS12	6002	broad.mit.edu	37	4	3319746	3319746	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:3319746C>T	ENST00000344733.5	+	2	2753	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	RGS12_ENST00000543385.1_Nonsense_Mutation_p.R617*|RGS12_ENST00000382788.3_Nonsense_Mutation_p.R617*|RGS12_ENST00000336727.3_Nonsense_Mutation_p.R617*	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	617					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGTCCCCATCGAAATGTTCG	0.582																																						uc003ggw.2		NaN																	0				skin(1)	1						c.(1849-1851)CGA>TGA		regulator of G-protein signalling 12 isoform 1							73.0	89.0	83.0					4																	3319746		2203	4300	6503	SO:0001587	stop_gained	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3319746C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1849C>T	4.37:g.3319746C>T	ENSP00000339381:p.Arg617*					RGS12_uc003ggu.2_Nonsense_Mutation_p.R617*|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Nonsense_Mutation_p.R617*|RGS12_uc003ggx.1_Nonsense_Mutation_p.R617*	p.R617*	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	2753	+			617					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Nonsense_Mutation	SNP	ENST00000344733.5	37	c.1849C>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	40	8.305472	0.98752	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	.	.	.	4.66	3.8	0.43715	.	0.367469	0.24700	N	0.036301	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9952	13.0874	0.59149	0.1618:0.8382:0.0:0.0	.	.	.	.	X	617	.	ENSP00000338509:R617X	R	+	1	2	RGS12	3289544	0.200000	0.23398	0.877000	0.34402	0.878000	0.50629	1.289000	0.33307	0.943000	0.37553	0.491000	0.48974	CGA		0.582	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1		NM_002926		27	107	0	0	0	0.021523	0	27	107		
EVC2	132884	broad.mit.edu	37	4	5570351	5570351	+	Missense_Mutation	SNP	G	G	A	rs201735294		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:5570351G>A	ENST00000344408.5	-	20	3430	c.3377C>T	c.(3376-3378)tCg>tTg	p.S1126L	EVC2_ENST00000344938.1_Missense_Mutation_p.S1126L|EVC2_ENST00000310917.2_Missense_Mutation_p.S1046L	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1126					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CGCCAGGTACGATGCCAGTCT	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15419	0.0		0.0	False		,,,				2504	0.0					uc003gij.2		NaN																	0				large_intestine(3)|ovary(2)	5						c.(3376-3378)TCG>TTG		limbin		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	33.0	37.0	36.0		3137,3377	4.4	0.0	4		36	0,8600		0,0,4300	no	missense,missense	EVC2	NM_001166136.1,NM_147127.4	145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	1046/1229,1126/1309	5570351	1,13005	2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5570351G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3377C>T	4.37:g.5570351G>A	ENSP00000342144:p.Ser1126Leu					EVC2_uc011bwb.1_Missense_Mutation_p.S566L|EVC2_uc003gik.2_Missense_Mutation_p.S1046L	p.S1126L	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			20	3431	-			1126					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3377C>T	CCDS3382.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	10.35	1.325362	0.24080	2.27E-4	0.0	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.78924	-1.22;-1.22;-1.22	5.3	4.45	0.53987	.	0.000000	0.64402	N	0.000006	T	0.62588	0.2440	L	0.27053	0.805	0.09310	N	1	P	0.35226	0.491	B	0.25405	0.06	T	0.59048	-0.7527	10	0.66056	D	0.02	-4.1079	11.59	0.50941	0.0:0.2006:0.7994:0.0	.	1126	Q86UK5	LBN_HUMAN	L	1126;1046;1126	ENSP00000339954:S1126L;ENSP00000311683:S1046L;ENSP00000342144:S1126L	ENSP00000311683:S1046L	S	-	2	0	EVC2	5621252	0.040000	0.19996	0.003000	0.11579	0.167000	0.22549	1.731000	0.38135	1.201000	0.43203	0.511000	0.50034	TCG		0.577	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2		NM_147127		6	11	0	0	0	0.00308	0	6	11		
NIPAL1	152519	broad.mit.edu	37	4	48035086	48035086	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:48035086G>C	ENST00000295461.5	+	4	513	c.447G>C	c.(445-447)ttG>ttC	p.L149F	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	149						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TGGGTGCTTTGAGTGTTCTCA	0.428																																						uc003gxw.2		NaN																	0					0						c.(445-447)TTG>TTC		NIPA-like domain containing 1							82.0	76.0	78.0					4																	48035086		2203	4300	6503	SO:0001583	missense	152519					integral to membrane		g.chr4:48035086G>C	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.447G>C	4.37:g.48035086G>C	ENSP00000295461:p.Leu149Phe						p.L149F	NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN			4	513	+			149			Helical; (Potential).		B3KTB0|Q68DA9	Missense_Mutation	SNP	ENST00000295461.5	37	c.447G>C	CCDS3479.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.467943	0.63625	.	.	ENSG00000163293	ENST00000295461	D	0.94092	-3.35	5.4	5.4	0.78164	.	0.000000	0.56097	D	0.000022	D	0.97275	0.9109	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97844	1.0270	10	0.87932	D	0	-12.2885	15.1796	0.72945	0.0:0.0:0.8584:0.1416	.	149	Q6NVV3	NIPA3_HUMAN	F	149	ENSP00000295461:L149F	ENSP00000295461:L149F	L	+	3	2	NIPAL1	47729843	1.000000	0.71417	0.999000	0.59377	0.310000	0.27922	3.168000	0.50801	2.684000	0.91462	0.585000	0.79938	TTG		0.428	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4		NM_207330		13	43	0	0	0	0.013537	0	13	43		
SLC9B1	150159	broad.mit.edu	37	4	103867833	103867833	+	Missense_Mutation	SNP	T	T	C	rs371379278		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:103867833T>C	ENST00000296422.7	-	5	637	c.496A>G	c.(496-498)Ata>Gta	p.I166V	SLC9B1_ENST00000394789.3_Missense_Mutation_p.I166V	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	166					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CCAGCTCTTATTAGAATAATG	0.363																																						uc003hww.2		NaN																	0				ovary(1)|skin(1)	2						c.(496-498)ATA>GTA		Na+/H+ exchanger domain containing 1 isoform 1							71.0	72.0	72.0					4																	103867833		2203	4300	6503	SO:0001583	missense	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103867833T>C	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.496A>G	4.37:g.103867833T>C	ENSP00000296422:p.Ile166Val					NHEDC1_uc003hwu.2_Missense_Mutation_p.I166V|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron	p.I166V	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)	5	618	-		Hepatocellular(203;0.217)	166			Helical; (Potential).		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	c.496A>G	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	T	0.060	-1.227463	0.01518	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000514340;ENST00000452285	T;T;T	0.15017	2.46;2.46;2.46	4.25	-5.5	0.02576	.	0.581123	0.17933	N	0.157102	T	0.05868	0.0153	N	0.16098	0.37	0.18873	N	0.999988	B;B	0.15141	0.005;0.012	B;B	0.16722	0.015;0.016	T	0.40175	-0.9577	10	0.02654	T	1	-13.4861	8.3021	0.32021	0.1213:0.537:0.0:0.3417	.	166;166	Q4ZJI4;Q4ZJI4-3	SL9B1_HUMAN;.	V	166;166;109;166	ENSP00000378269:I166V;ENSP00000296422:I166V;ENSP00000426056:I109V	ENSP00000296422:I166V	I	-	1	0	SLC9B1	104087282	0.988000	0.35896	0.567000	0.28434	0.698000	0.40448	0.200000	0.17257	-0.901000	0.03891	-0.361000	0.07541	ATA		0.363	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1		NM_139173		45	41	0	0	0	0.011902	0	45	41		
UGT8	7368	broad.mit.edu	37	4	115544466	115544466	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:115544466G>A	ENST00000310836.6	+	2	952	c.430G>A	c.(430-432)Gga>Aga	p.G144R	UGT8_ENST00000394511.3_Missense_Mutation_p.G144R	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	144					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TGATATGTGTGGATTTGTGAT	0.448																																						uc003ibs.2		NaN																	0				ovary(1)|skin(1)	2						c.(430-432)GGA>AGA		UDP-galactose-ceramide galactosyltransferase 8							174.0	169.0	171.0					4																	115544466		2203	4300	6503	SO:0001583	missense	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115544466G>A	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.430G>A	4.37:g.115544466G>A	ENSP00000311648:p.Gly144Arg					UGT8_uc003ibt.2_Missense_Mutation_p.G144R|UGT8_uc011cge.1_RNA	p.G144R	NM_001128174	NP_001121646	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	2	952	+		Ovarian(17;0.156)	144					B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	c.430G>A	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865121	0.91511	.	.	ENSG00000174607	ENST00000310836;ENST00000394511	T;T	0.65732	-0.17;-0.17	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.80237	0.4586	M	0.81802	2.56	0.80722	D	1	D	0.55385	0.971	D	0.63597	0.916	T	0.82534	-0.0409	10	0.87932	D	0	.	19.4042	0.94642	0.0:0.0:1.0:0.0	.	144	Q16880	CGT_HUMAN	R	144	ENSP00000311648:G144R;ENSP00000378019:G144R	ENSP00000311648:G144R	G	+	1	0	UGT8	115763915	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.596000	0.98267	2.660000	0.90430	0.650000	0.86243	GGA		0.448	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2		NM_003360		49	97	0	0	0	0.01441	0	49	97		
HHIP	64399	broad.mit.edu	37	4	145573799	145573799	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:145573799G>C	ENST00000296575.3	+	2	977	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.E108Q	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	108					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAAGTTACTGGAGGAAATCAA	0.393																																						uc003ijs.1		NaN																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(322-324)GAG>CAG		hedgehog-interacting protein precursor							107.0	112.0	110.0					4																	145573799		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145573799G>C	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.322G>C	4.37:g.145573799G>C	ENSP00000296575:p.Glu108Gln					HHIP_uc003ijr.1_Missense_Mutation_p.E108Q	p.E108Q	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	2	977	+	all_hematologic(180;0.151)		108					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.322G>C	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367152	0.61513	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.77489	-1.1;-1.1	5.83	5.83	0.93111	Folate receptor-like (1);	0.142033	0.64402	D	0.000006	T	0.73713	0.3622	L	0.60455	1.87	0.80722	D	1	B;B	0.30709	0.013;0.291	B;B	0.24848	0.018;0.056	T	0.70182	-0.4942	10	0.31617	T	0.26	-18.7823	16.3852	0.83502	0.0:0.1315:0.8685:0.0	.	108;108	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	Q	108	ENSP00000296575:E108Q;ENSP00000408587:E108Q	ENSP00000296575:E108Q	E	+	1	0	HHIP	145793249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.564000	0.73969	2.770000	0.95276	0.655000	0.94253	GAG		0.393	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2				19	92	0	0	0	0.007413	0	19	92		
HHIP	64399	broad.mit.edu	37	4	145635380	145635380	+	Missense_Mutation	SNP	G	G	A	rs147064425		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:145635380G>A	ENST00000296575.3	+	9	2082	c.1427G>A	c.(1426-1428)aGt>aAt	p.S476N		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	476					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTTCCAGAAAGTGAGCCATCA	0.353																																						uc003ijs.1		NaN																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1426-1428)AGT>AAT		hedgehog-interacting protein precursor		G	ASN/SER	1,4405	2.1+/-5.4	0,1,2202	105.0	99.0	101.0		1427	4.9	1.0	4	dbSNP_134	101	0,8600		0,0,4300	no	missense	HHIP	NM_022475.2	46	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	476/701	145635380	1,13005	2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145635380G>A	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1427G>A	4.37:g.145635380G>A	ENSP00000296575:p.Ser476Asn						p.S476N	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	9	2082	+	all_hematologic(180;0.151)		476					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.1427G>A	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832191	0.32421	2.27E-4	0.0	ENSG00000164161	ENST00000296575	T	0.05513	3.43	5.71	4.87	0.63330	Six-bladed beta-propeller, TolB-like (1);	0.043717	0.85682	D	0.000000	T	0.02455	0.0075	N	0.02296	-0.605	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44802	-0.9304	10	0.10111	T	0.7	-12.1111	9.6281	0.39763	0.0701:0.0:0.7875:0.1424	.	476	Q96QV1	HHIP_HUMAN	N	476	ENSP00000296575:S476N	ENSP00000296575:S476N	S	+	2	0	HHIP	145854830	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.949000	0.56668	1.425000	0.47237	0.563000	0.77884	AGT		0.353	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2				10	34	0	0	0	0.008291	0	10	34		
NPY5R	4889	broad.mit.edu	37	4	164271826	164271826	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:164271826C>T	ENST00000515560.1	+	4	1923	c.401C>T	c.(400-402)tCa>tTa	p.S134L	NPY5R_ENST00000338566.3_Missense_Mutation_p.S134L|NPY5R_ENST00000506953.1_Missense_Mutation_p.S134L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	134					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.L130fs*9(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTTTAATATCAATTGCCATT	0.358																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2		NaN																	1	Deletion - Frameshift(1)		breast(1)	lung(6)|skin(1)	7						c.(400-402)TCA>TTA		neuropeptide Y receptor Y5							193.0	194.0	193.0					4																	164271826		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271826C>T	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.401C>T	4.37:g.164271826C>T	ENSP00000423917:p.Ser134Leu						p.S134L	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	583	+	all_hematologic(180;0.166)	Prostate(90;0.109)	134			Helical; Name=3; (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.401C>T	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270991	0.59540	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.33438	1.41;1.41;1.41	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000112	T	0.22898	0.0553	N	0.16016	0.355	0.52501	D	0.999957	B	0.22211	0.066	B	0.18263	0.021	T	0.05550	-1.0878	10	0.59425	D	0.04	.	18.9152	0.92503	0.0:1.0:0.0:0.0	.	134	Q15761	NPY5R_HUMAN	L	134	ENSP00000339377:S134L;ENSP00000423917:S134L;ENSP00000423474:S134L	ENSP00000339377:S134L	S	+	2	0	NPY5R	164491276	0.995000	0.38212	0.990000	0.47175	0.995000	0.86356	3.250000	0.51445	2.533000	0.85409	0.591000	0.81541	TCA		0.358	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1		NM_006174		42	159	0	0	0	0.025465	0	42	159		
CLCN3	1182	broad.mit.edu	37	4	170608906	170608906	+	Nonsense_Mutation	SNP	C	C	A	rs200318516		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:170608906C>A	ENST00000513761.1	+	4	975	c.416C>A	c.(415-417)tCa>tAa	p.S139*	CLCN3_ENST00000347613.4_Nonsense_Mutation_p.S139*|CLCN3_ENST00000504131.2_Nonsense_Mutation_p.S122*|CLCN3_ENST00000360642.3_Nonsense_Mutation_p.S139*	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	139					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GGATTGGCATCAGGTAAAGAA	0.358																																						uc003isi.2		NaN																	0				breast(2)|ovary(1)	3						c.(415-417)TCA>TAA		chloride channel 3 isoform b							104.0	98.0	100.0					4																	170608906		2203	4300	6503	SO:0001587	stop_gained	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170608906C>A	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.416C>A	4.37:g.170608906C>A	ENSP00000424603:p.Ser139*					CLCN3_uc003ish.2_Nonsense_Mutation_p.S139*|CLCN3_uc011cjz.1_Nonsense_Mutation_p.S122*|CLCN3_uc011cka.1_Nonsense_Mutation_p.S139*|CLCN3_uc003isj.1_Nonsense_Mutation_p.S112*	p.S139*	NM_001829	NP_001820	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	4	925	+		Prostate(90;0.00601)|Renal(120;0.0183)	139			Helical; (By similarity).		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Nonsense_Mutation	SNP	ENST00000513761.1	37	c.416C>A	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986466	0.93044	.	.	ENSG00000109572	ENST00000511092;ENST00000513761;ENST00000347613;ENST00000360642;ENST00000538301;ENST00000504131;ENST00000507875	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-7.54	18.9358	0.92584	0.0:1.0:0.0:0.0	.	.	.	.	X	139;139;139;139;139;122;112	.	ENSP00000261514:S139X	S	+	2	0	CLCN3	170845481	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	7.479000	0.81095	2.469000	0.83416	0.557000	0.71058	TCA		0.358	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2				12	62	1	0	4.84862e-15	0.010729	5.5286e-15	12	62		
GALNTL6	442117	broad.mit.edu	37	4	173961175	173961175	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:173961175C>T	ENST00000506823.1	+	13	2387	c.1730C>T	c.(1729-1731)tCt>tTt	p.S577F	GALNTL6_ENST00000508122.1_Missense_Mutation_p.S560F	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	577	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GACCCTCTCTCTGAGACTCAG	0.428																																						uc003isv.2		NaN																	0				breast(2)|ovary(1)|skin(1)	4						c.(1729-1731)TCT>TTT		N-acetylgalactosaminyltransferase-like 6							100.0	94.0	96.0					4																	173961175		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173961175C>T		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1730C>T	4.37:g.173961175C>T	ENSP00000423313:p.Ser577Phe						p.S577F	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			13	2466	+			577			Ricin B-type lectin.|Lumenal (Potential).		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.1730C>T	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460790	0.63513	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.78003	-1.14;-1.14	5.7	4.86	0.63082	Ricin B-related lectin (1);Ricin B lectin (3);	0.469352	0.20632	N	0.088577	D	0.88746	0.6520	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.90201	0.4257	10	0.72032	D	0.01	.	14.7881	0.69819	0.0:0.9307:0.0:0.0693	.	577	Q49A17	GLTL6_HUMAN	F	577;560	ENSP00000423313:S577F;ENSP00000423827:S560F	ENSP00000423313:S577F	S	+	2	0	GALNTL6	174197750	1.000000	0.71417	0.028000	0.17463	0.994000	0.84299	4.456000	0.60081	1.409000	0.46915	0.655000	0.94253	TCT		0.428	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1		NM_001034845		16	71	0	0	0	0.024245	0	16	71		
CDH18	1016	broad.mit.edu	37	5	19571845	19571845	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:19571845C>G	ENST00000507958.1	-	10	2086	c.1096G>C	c.(1096-1098)Gat>Cat	p.D366H	CDH18_ENST00000382275.1_Missense_Mutation_p.D366H|CDH18_ENST00000511273.1_Missense_Mutation_p.D366H|CDH18_ENST00000506372.1_Missense_Mutation_p.D366H|CDH18_ENST00000502796.1_Missense_Mutation_p.D366H|CDH18_ENST00000274170.4_Missense_Mutation_p.D366H			Q13634	CAD18_HUMAN	cadherin 18, type 2	366	Cadherin 3. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATAGTAGCATCTTTAAAAGGA	0.403																																						uc003jgc.2		NaN																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(1096-1098)GAT>CAT		cadherin 18, type 2 preproprotein							126.0	111.0	116.0					5																	19571845		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19571845C>G	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1096G>C	5.37:g.19571845C>G	ENSP00000425093:p.Asp366His					CDH18_uc003jgd.2_Missense_Mutation_p.D366H|CDH18_uc011cnm.1_Missense_Mutation_p.D366H	p.D366H	NM_004934	NP_004925	Q13634	CAD18_HUMAN			7	1473	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		366			Extracellular (Potential).|Cadherin 3.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1096G>C	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474087	0.84640	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.61392	0.19;0.19;0.19;0.15;0.16;0.38;0.11	5.17	5.17	0.71159	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82490	0.5048	M	0.93720	3.45	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87155	0.2211	9	.	.	.	.	17.5963	0.88013	0.0:1.0:0.0:0.0	.	366;366	B4DHG6;Q13634	.;CAD18_HUMAN	H	366;366;366;366;366;366;312;366	ENSP00000371710:D366H;ENSP00000425093:D366H;ENSP00000274170:D366H;ENSP00000424931:D366H;ENSP00000422138:D366H;ENSP00000427383:D312H;ENSP00000425854:D366H	.	D	-	1	0	CDH18	19607602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.363000	0.79516	2.591000	0.87537	0.655000	0.94253	GAT		0.403	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1		NM_004934		19	55	0	0	0	0.006122	0	19	55		
GHR	2690	broad.mit.edu	37	5	42718627	42718627	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:42718627G>A	ENST00000230882.4	+	10	1208	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	GHR_ENST00000357703.3_Missense_Mutation_p.D318N|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.D153N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	340					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCACAGTGATGACTCTTGGGT	0.378																																						uc003jmt.2		NaN																	0				lung(4)|kidney(1)|skin(1)	6						c.(1018-1020)GAC>AAC		growth hormone receptor precursor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						147.0	160.0	156.0					5																	42718627		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42718627G>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1018G>A	5.37:g.42718627G>A	ENSP00000230882:p.Asp340Asn					GHR_uc011cpq.1_Missense_Mutation_p.D153N	p.D340N	NM_000163	NP_000154	P10912	GHR_HUMAN			10	1061	+		Myeloproliferative disorder(839;0.00878)	340			Cytoplasmic (Potential).|UbE motif.		Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1018G>A	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426857	0.83667	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.43688	0.94;0.94;0.94	6.02	6.02	0.97574	.	0.041546	0.85682	D	0.000000	T	0.77198	0.4095	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82536	-0.0408	10	0.66056	D	0.02	-19.5902	20.5269	0.99230	0.0:0.0:1.0:0.0	.	340	P10912	GHR_HUMAN	N	340;318;153	ENSP00000230882:D340N;ENSP00000350335:D318N;ENSP00000442206:D153N	ENSP00000230882:D340N	D	+	1	0	GHR	42754384	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.807000	0.75201	2.859000	0.98148	0.591000	0.81541	GAC		0.378	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2		NM_000163		130	143	0	0	0	0.01441	0	130	143		
CWC27	10283	broad.mit.edu	37	5	64100077	64100077	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:64100077G>C	ENST00000381070.3	+	10	1019	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	CWC27_ENST00000508024.1_Missense_Mutation_p.E268Q	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	268					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TGAAAGTGCAGAGCATGATGA	0.368																																						uc003jtn.1		NaN																	0					0						c.(802-804)GAG>CAG		serologically defined colon cancer antigen 10							87.0	90.0	89.0					5																	64100077		2203	4300	6503	SO:0001583	missense	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64100077G>C	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.802G>C	5.37:g.64100077G>C	ENSP00000370460:p.Glu268Gln					CWC27_uc003jtl.2_Missense_Mutation_p.E268Q|CWC27_uc003jtm.2_Missense_Mutation_p.E268Q|CWC27_uc010iwt.1_Missense_Mutation_p.E268Q	p.E268Q	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN			10	1021	+			268					O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	c.802G>C	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762636	0.31228	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.50813	0.73;0.73	5.53	5.53	0.82687	.	0.104580	0.64402	D	0.000009	T	0.47210	0.1433	L	0.48642	1.525	0.09310	N	1	B;B;B;B	0.28400	0.21;0.02;0.21;0.087	B;B;B;B	0.37422	0.249;0.009;0.192;0.014	T	0.35649	-0.9780	10	0.18276	T	0.48	.	16.7337	0.85442	0.0:0.0:1.0:0.0	.	268;268;268;268	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	Q	268	ENSP00000370460:E268Q;ENSP00000426802:E268Q	ENSP00000370460:E268Q	E	+	1	0	CWC27	64135833	0.989000	0.36119	0.103000	0.21229	0.597000	0.36814	5.186000	0.65082	2.757000	0.94681	0.563000	0.77884	GAG		0.368	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4		NM_005869		16	31	0	0	0	0.028581	0	16	31		
F2RL1	2150	broad.mit.edu	37	5	76128611	76128611	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:76128611C>G	ENST00000296677.4	+	2	385	c.179C>G	c.(178-180)tCt>tGt	p.S60C		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	60					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		ACAGTCTTTTCTGTGGATGAG	0.438																																						uc003keo.2		NaN																	0				central_nervous_system(1)	1						c.(178-180)TCT>TGT		coagulation factor II (thrombin) receptor-like 1							197.0	166.0	177.0					5																	76128611		2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76128611C>G	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.179C>G	5.37:g.76128611C>G	ENSP00000296677:p.Ser60Cys						p.S60C	NM_005242	NP_005233	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	354	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	60			Extracellular (Potential).		Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.179C>G	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733305	0.30684	.	.	ENSG00000164251	ENST00000296677	T	0.72615	-0.67	5.75	2.82	0.32997	.	0.758201	0.12578	N	0.456708	T	0.61337	0.2339	L	0.52364	1.645	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.54132	-0.8339	10	0.52906	T	0.07	-7.0704	5.9817	0.19411	0.2532:0.5663:0.1119:0.0686	.	60	P55085	PAR2_HUMAN	C	60	ENSP00000296677:S60C	ENSP00000296677:S60C	S	+	2	0	F2RL1	76164367	0.000000	0.05858	0.001000	0.08648	0.302000	0.27658	-0.160000	0.10041	0.755000	0.32990	0.655000	0.94253	TCT		0.438	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2				32	71	0	0	0	0.012213	0	32	71		
ZCCHC9	84240	broad.mit.edu	37	5	80600669	80600669	+	Silent	SNP	A	A	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:80600669A>C	ENST00000254037.2	+	1	3248	c.93A>C	c.(91-93)ggA>ggC	p.G31G	ZCCHC9_ENST00000438268.2_Silent_p.G31G|ZCCHC9_ENST00000380199.5_Silent_p.G31G|ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000407610.3_Silent_p.G31G			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	31					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		CCTTTGAGGGAACAAGCCAAA	0.423																																						uc003khj.2		NaN																	0				ovary(1)	1						c.(91-93)GGA>GGC		zinc finger, CCHC domain containing 9							111.0	104.0	106.0					5																	80600669		2203	4300	6503	SO:0001819	synonymous_variant	84240						nucleic acid binding|zinc ion binding	g.chr5:80600669A>C	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.93A>C	5.37:g.80600669A>C						RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Silent_p.G31G|ZCCHC9_uc003khi.2_Silent_p.G31G	p.G31G	NM_001131035	NP_001124507	Q8N567	ZCHC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)	2	226	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)	31					B2RAE7|Q9H027	Silent	SNP	ENST00000254037.2	37	c.93A>C	CCDS4054.1																																																																																				0.423	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1		NM_032280		22	50	0	0	0	0.012319	0	22	50		
DCP2	167227	broad.mit.edu	37	5	112327847	112327847	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:112327847C>G	ENST00000389063.2	+	3	433	c.235C>G	c.(235-237)Caa>Gaa	p.Q79E	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Missense_Mutation_p.Q79E	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	79					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTTGCTGCCTCAAGGTGAAGA	0.353																																						uc003kqh.2		NaN																	0					0						c.(235-237)CAA>GAA		DCP2 decapping enzyme							186.0	176.0	179.0					5																	112327847		2202	4300	6502	SO:0001583	missense	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding	g.chr5:112327847C>G	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.235C>G	5.37:g.112327847C>G	ENSP00000373715:p.Gln79Glu					DCP2_uc011cwa.1_Intron|DCP2_uc010jcc.2_5'UTR	p.Q79E	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	3	433	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	79					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.235C>G	CCDS34210.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344649	0.41498	.	.	ENSG00000172795	ENST00000515408;ENST00000389063	T;T	0.42131	0.98;0.98	5.69	4.83	0.62350	mRNA decapping protein 2, Box A (1);	0.200607	0.53938	N	0.000044	T	0.28234	0.0697	N	0.20530	0.585	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.05053	-1.0909	10	0.34782	T	0.22	.	11.8157	0.52209	0.1384:0.7286:0.1329:0.0	.	79	Q8IU60	DCP2_HUMAN	E	79	ENSP00000425770:Q79E;ENSP00000373715:Q79E	ENSP00000373715:Q79E	Q	+	1	0	DCP2	112355746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.609000	0.54117	1.422000	0.47177	-0.133000	0.14855	CAA		0.353	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3		NM_152624		19	82	0	0	0	0.014323	0	19	82		
KCNN2	3781	broad.mit.edu	37	5	113698511	113698511	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:113698511G>A	ENST00000512097.3	+	2	1057	c.39G>A	c.(37-39)ccG>ccA	p.P13P	KCNN2_ENST00000264773.3_Silent_p.P13P			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	13					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	TCATGCGGCCGCTCAGCAACT	0.697																																						uc003kqo.2		NaN																	0				ovary(2)	2						c.(37-39)CCG>CCA		small conductance calcium-activated potassium							19.0	20.0	19.0					5																	113698511		2198	4298	6496	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698511G>A	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.39G>A	5.37:g.113698511G>A							p.P13P	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	1	496	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	13					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.39G>A	CCDS4114.1																																																																																				0.697	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2		NM_021614		8	6	0	0	0	0.004482	0	8	6		
ZBTB22	9278	broad.mit.edu	37	6	33284496	33284496	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:33284496C>T	ENST00000431845.2	-	2	349	c.198G>A	c.(196-198)cgG>cgA	p.R66R	DAXX_ENST00000477162.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.R66R|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	66	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCCGGAACTCCCGGCCCTGCA	0.592																																						uc003oeb.2		NaN																	0				ovary(1)	1						c.(196-198)CGG>CGA		zinc finger and BTB domain containing 22							69.0	70.0	70.0					6																	33284496		2203	4300	6503	SO:0001819	synonymous_variant	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33284496C>T	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.198G>A	6.37:g.33284496C>T						TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.R66R	p.R66R	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	350	-			66			BTB.		B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	ENST00000431845.2	37	c.198G>A	CCDS4775.1																																																																																				0.592	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2				48	70	0	0	0	0.01441	0	48	70		
BRPF3	27154	broad.mit.edu	37	6	36168155	36168155	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:36168155C>T	ENST00000357641.6	+	2	309	c.56C>T	c.(55-57)tCc>tTc	p.S19F	BRPF3_ENST00000339717.7_Missense_Mutation_p.S19F|BRPF3_ENST00000534400.1_Missense_Mutation_p.S19F|BRPF3_ENST00000443324.2_Missense_Mutation_p.S19F|BRPF3_ENST00000543502.1_Missense_Mutation_p.S19F|BRPF3_ENST00000534694.1_Missense_Mutation_p.S19F	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	19					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CGTTCCCCGTCCCCCTACAGT	0.627																																						uc003olv.3		NaN																	0				ovary(1)|skin(1)	2						c.(55-57)TCC>TTC		bromodomain and PHD finger containing, 3							56.0	55.0	55.0					6																	36168155		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36168155C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.56C>T	6.37:g.36168155C>T	ENSP00000350267:p.Ser19Phe					BRPF3_uc010jwb.2_Missense_Mutation_p.S19F|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.S19F	p.S19F	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			2	280	+			19					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.56C>T	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934010	0.52866	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000446974;ENST00000454960;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T;T;T	0.56776	2.02;2.14;2.14;0.52;0.44;2.14;2.14;1.82	5.38	5.38	0.77491	.	0.110808	0.64402	D	0.000005	T	0.69655	0.3135	M	0.74647	2.275	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.83275	0.994;0.994;0.996	T	0.73219	-0.4052	10	0.87932	D	0	.	19.1826	0.93629	0.0:1.0:0.0:0.0	.	19;19;19	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	F	19	ENSP00000350267:S19F;ENSP00000345419:S19F;ENSP00000434501:S19F;ENSP00000410669:S19F;ENSP00000413655:S19F;ENSP00000445352:S19F;ENSP00000387368:S19F;ENSP00000436504:S19F	ENSP00000345419:S19F	S	+	2	0	BRPF3	36276133	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.440000	0.80464	2.550000	0.86006	0.551000	0.68910	TCC		0.627	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3		NM_015695		6	75	0	0	0	0.021553	0	6	75		
MDGA1	266727	broad.mit.edu	37	6	37622222	37622222	+	Silent	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:37622222G>T	ENST00000434837.3	-	6	1988	c.810C>A	c.(808-810)ctC>ctA	p.L270L	MDGA1_ENST00000505425.1_Silent_p.L270L|MDGA1_ENST00000297153.7_Silent_p.L270L	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	270	Ig-like 3.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCAGCTGGGGGAGGGGATCAC	0.647																																						uc003onu.1		NaN																	0				central_nervous_system(2)	2						c.(808-810)CTC>CTA		MAM domain containing							44.0	47.0	46.0					6																	37622222		2065	4198	6263	SO:0001819	synonymous_variant	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37622222G>T	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.810C>A	6.37:g.37622222G>T						MDGA1_uc003onw.3_5'Flank	p.L270L	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN			6	1989	-			270			Ig-like 3.		A6NHG0|Q8NBE3	Silent	SNP	ENST00000434837.3	37	c.810C>A	CCDS47417.1																																																																																				0.647	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3				22	41	1	0	7.45023e-12	0.010504	8.19525e-12	22	41		
MDGA1	266727	broad.mit.edu	37	6	37622284	37622284	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:37622284G>C	ENST00000434837.3	-	6	1926	c.748C>G	c.(748-750)Ctg>Gtg	p.L250V	MDGA1_ENST00000505425.1_Missense_Mutation_p.L250V|MDGA1_ENST00000297153.7_Missense_Mutation_p.L250V	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	250	Ig-like 3.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TTCACCACCAGAGTTTCGTTC	0.617																																						uc003onu.1		NaN																	0				central_nervous_system(2)	2						c.(748-750)CTG>GTG		MAM domain containing							74.0	76.0	75.0					6																	37622284		2053	4206	6259	SO:0001583	missense	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37622284G>C	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.748C>G	6.37:g.37622284G>C	ENSP00000402584:p.Leu250Val					MDGA1_uc003onw.3_5'Flank	p.L250V	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN			6	1927	-			250			Ig-like 3.		A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	c.748C>G	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442399	0.43326	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.11063	2.81;2.81;2.81	5.44	4.5	0.54988	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39615	N	0.001304	T	0.01421	0.0046	N	0.03948	-0.315	0.33064	D	0.534421	B	0.25272	0.122	B	0.25884	0.064	T	0.46162	-0.9211	10	0.09338	T	0.73	.	9.7053	0.40211	0.1603:0.0:0.8397:0.0	.	250	Q8NFP4	MDGA1_HUMAN	V	250	ENSP00000402584:L250V;ENSP00000297153:L250V;ENSP00000422042:L250V	ENSP00000297153:L250V	L	-	1	2	MDGA1	37730262	0.314000	0.24563	1.000000	0.80357	0.987000	0.75469	0.784000	0.26816	2.837000	0.97791	0.655000	0.94253	CTG		0.617	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3				43	78	0	0	0	0.010771	0	43	78		
TREM1	54210	broad.mit.edu	37	6	41254347	41254347	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:41254347G>A	ENST00000244709.4	-	1	110	c.47C>T	c.(46-48)tCa>tTa	p.S16L	TREM1_ENST00000589614.1_Missense_Mutation_p.S16L|TREM1_ENST00000334475.6_Missense_Mutation_p.S16L|TREM1_ENST00000591620.1_Missense_Mutation_p.S16L	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	16					blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGTCTTACCTGAGACAAAGAG	0.577																																						uc003oqf.1		NaN																	0				breast(1)	1						c.(46-48)TCA>TTA		triggering receptor expressed on myeloid cells 1	Glutathione(DB00143)						101.0	95.0	97.0					6																	41254347		2203	4300	6503	SO:0001583	missense	54210				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	g.chr6:41254347G>A	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.47C>T	6.37:g.41254347G>A	ENSP00000244709:p.Ser16Leu					TREM1_uc003oqg.1_Missense_Mutation_p.S16L	p.S16L	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN			1	111	-	Ovarian(28;0.0327)|Colorectal(47;0.196)		16					B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	ENST00000244709.4	37	c.47C>T	CCDS4854.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699843	0.30142	.	.	ENSG00000124731	ENST00000244709;ENST00000334475	T;T	0.13657	2.95;2.57	3.73	1.91	0.25777	.	0.816281	0.10035	N	0.724274	T	0.03651	0.0104	L	0.29908	0.895	0.31117	N	0.709337	P;P	0.39157	0.662;0.532	B;B	0.38655	0.278;0.144	T	0.39563	-0.9608	10	0.59425	D	0.04	-3.2709	4.5367	0.12037	0.1149:0.0:0.6672:0.2179	.	16;16	Q9NP99-2;Q9NP99	.;TREM1_HUMAN	L	16	ENSP00000244709:S16L;ENSP00000334284:S16L	ENSP00000244709:S16L	S	-	2	0	TREM1	41362325	0.366000	0.25014	0.861000	0.33841	0.717000	0.41224	0.279000	0.18771	0.551000	0.29008	0.655000	0.94253	TCA		0.577	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2		NM_018643		10	79	0	0	0	0.006214	0	10	79		
TDRD6	221400	broad.mit.edu	37	6	46660807	46660807	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:46660807C>G	ENST00000316081.6	+	1	4942	c.4942C>G	c.(4942-4944)Caa>Gaa	p.Q1648E	TDRD6_ENST00000544460.1_Missense_Mutation_p.Q1648E	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1648					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ATTATGTTCTCAAGAGGGAAA	0.383																																						uc003oyj.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(4942-4944)CAA>GAA		tudor domain containing 6							73.0	75.0	74.0					6																	46660807		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660807C>G	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4942C>G	6.37:g.46660807C>G	ENSP00000346065:p.Gln1648Glu					TDRD6_uc010jze.2_Missense_Mutation_p.Q1642E	p.Q1648E	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4942	+			1648					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4942C>G	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	0.116	-1.131634	0.01756	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.13901	2.55;2.56	5.88	3.86	0.44501	.	1.126930	0.06510	N	0.737963	T	0.02267	0.0070	L	0.34521	1.04	0.09310	N	1	B;B	0.17465	0.017;0.022	B;B	0.10450	0.005;0.003	T	0.51903	-0.8646	10	0.02654	T	1	-13.1588	1.8067	0.03082	0.17:0.4038:0.267:0.1592	.	1648;1648	F5H5M3;O60522	.;TDRD6_HUMAN	E	1648	ENSP00000443299:Q1648E;ENSP00000346065:Q1648E	ENSP00000346065:Q1648E	Q	+	1	0	TDRD6	46768766	0.193000	0.23313	1.000000	0.80357	0.733000	0.41908	1.538000	0.36094	2.782000	0.95742	0.655000	0.94253	CAA		0.383	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443		14	104	0	0	0	0.020292	0	14	104		
DST	667	broad.mit.edu	37	6	56391242	56391242	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:56391242C>T	ENST00000361203.3	-	64	17093	c.17086G>A	c.(17086-17088)Gac>Aac	p.D5696N	DST_ENST00000370788.2_Missense_Mutation_p.D3610N|DST_ENST00000370769.4_Missense_Mutation_p.D5807N|DST_ENST00000370754.5_Missense_Mutation_p.D5985N|DST_ENST00000421834.2_Missense_Mutation_p.D3719N|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.D3393N|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.D5481N			Q03001	DYST_HUMAN	dystonin	5691					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGCTCATTGTCCTCAGCTACC	0.493																																						uc003pdf.2		NaN																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(11689-11691)GAC>AAC		dystonin isoform 2							255.0	241.0	246.0					6																	56391242		2027	4198	6225	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56391242C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17086G>A	6.37:g.56391242C>T	ENSP00000354508:p.Asp5696Asn					DST_uc003pcz.3_Missense_Mutation_p.D3719N|DST_uc011dxj.1_Missense_Mutation_p.D3748N|DST_uc011dxk.1_Missense_Mutation_p.D3759N|DST_uc003pcy.3_Missense_Mutation_p.D3393N	p.D3897N	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		63	11717	-	Lung NSC(77;0.103)		5805					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.11689G>A		.	.	.	.	.	.	.	.	.	.	C	25.5	4.645615	0.87958	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.73	4.87	0.63330	.	0.000000	0.56097	D	0.000032	T	0.40546	0.1121	M	0.82323	2.585	0.32212	N	0.576451	P;P;P;B;B	0.51147	0.704;0.849;0.942;0.006;0.079	B;P;P;B;B	0.50352	0.115;0.562;0.638;0.007;0.036	T	0.48525	-0.9028	9	0.36615	T	0.2	.	14.8502	0.70292	0.0:0.9312:0.0:0.0688	.	3719;5807;5985;5805;3393	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	3393;5985;5807;3719;5481;3610;5696	ENSP00000244364:D3393N;ENSP00000359790:D5985N;ENSP00000359805:D5807N;ENSP00000400883:D3719N;ENSP00000393645:D5481N;ENSP00000359824:D3610N;ENSP00000354508:D5696N	ENSP00000244364:D3393N	D	-	1	0	DST	56499201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.037000	0.57311	1.557000	0.49525	0.655000	0.94253	GAC		0.493	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723		35	127	0	0	0	0.013726	0	35	127		
DST	667	broad.mit.edu	37	6	56420230	56420230	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:56420230G>T	ENST00000361203.3	-	56	14423	c.14416C>A	c.(14416-14418)Ctg>Atg	p.L4806M	DST_ENST00000370788.2_Missense_Mutation_p.L2720M|DST_ENST00000370769.4_Missense_Mutation_p.L4808M|DST_ENST00000370754.5_Missense_Mutation_p.L4986M|DST_ENST00000421834.2_Missense_Mutation_p.L2720M|DST_ENST00000244364.6_Missense_Mutation_p.L2394M|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.L4482M			Q03001	DYST_HUMAN	dystonin	4806					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTTAACCAGTGCTGACAAA	0.408																																						uc003pdf.2		NaN																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(8692-8694)CTG>ATG		dystonin isoform 2							139.0	138.0	138.0					6																	56420230		1903	4118	6021	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56420230G>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.14416C>A	6.37:g.56420230G>T	ENSP00000354508:p.Leu4806Met					DST_uc003pcz.3_Missense_Mutation_p.L2720M|DST_uc011dxj.1_Missense_Mutation_p.L2749M|DST_uc011dxk.1_Missense_Mutation_p.L2760M|DST_uc003pcy.3_Missense_Mutation_p.L2394M	p.L2898M	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		54	8720	-	Lung NSC(77;0.103)		4806					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.8692C>A		.	.	.	.	.	.	.	.	.	.	G	15.81	2.941935	0.53079	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.96	5.08	0.68730	.	0.000000	0.42682	D	0.000667	T	0.43612	0.1255	L	0.52126	1.63	0.25020	N	0.99134	D;P;P;P;P	0.76494	0.999;0.897;0.95;0.647;0.847	D;P;D;B;P	0.85130	0.997;0.685;0.928;0.131;0.615	T	0.30238	-0.9985	9	0.46703	T	0.11	.	12.788	0.57518	0.1287:0.0:0.8713:0.0	.	2720;4808;4986;4806;2394	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	M	2394;4986;4808;2720;4482;2720;4806	ENSP00000244364:L2394M;ENSP00000359790:L4986M;ENSP00000359805:L4808M;ENSP00000400883:L2720M;ENSP00000393645:L4482M;ENSP00000359824:L2720M;ENSP00000354508:L4806M	ENSP00000244364:L2394M	L	-	1	2	DST	56528189	0.997000	0.39634	0.996000	0.52242	0.996000	0.88848	2.485000	0.45250	2.823000	0.97156	0.650000	0.86243	CTG		0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723		33	70	1	0	4.11147e-13	0.017118	4.60387e-13	33	70		
ZNF451	26036	broad.mit.edu	37	6	57012841	57012841	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:57012841G>C	ENST00000370706.4	+	10	2202	c.1958G>C	c.(1957-1959)cGa>cCa	p.R653P	RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.R653P|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R653P|RP11-203B9.4_ENST00000588811.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	653					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R653Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACATTGTACCGACATTGCCAA	0.373																																						uc003pdm.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|pancreas(1)	2						c.(1957-1959)CGA>CCA		zinc finger protein 451 isoform 1							83.0	85.0	84.0					6																	57012841		2203	4299	6502	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57012841G>C	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1958G>C	6.37:g.57012841G>C	ENSP00000359740:p.Arg653Pro					ZNF451_uc003pdl.2_Missense_Mutation_p.R653P|ZNF451_uc003pdn.1_Missense_Mutation_p.R653P|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.R653P	p.R653P	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2182	+	Lung NSC(77;0.145)		653			C2H2-type 8.		Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.1958G>C	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.766981	0.69878	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.21361	2.01;2.01;2.02	5.13	5.13	0.70059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.998	T	0.33574	-0.9863	10	0.66056	D	0.02	-9.9854	18.9573	0.92664	0.0:0.0:1.0:0.0	.	653;653;653;653	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	P	653	ENSP00000359740:R653P;ENSP00000350083:R653P;ENSP00000421645:R653P	ENSP00000350083:R653P	R	+	2	0	ZNF451	57120800	1.000000	0.71417	0.503000	0.27626	0.905000	0.53344	8.979000	0.93455	2.541000	0.85698	0.557000	0.71058	CGA		0.373	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2		NM_015555		57	84	0	0	0	0.01441	0	57	84		
CASP8AP2	9994	broad.mit.edu	37	6	90573429	90573429	+	RNA	SNP	T	T	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:90573429T>A	ENST00000551025.1	+	0	3438									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTGACAATACTATGCATTGTG	0.418																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NaN																	0				ovary(2)	2						c.(1999-2001)ACT>ACA		caspase 8 associated protein 2							57.0	54.0	55.0					6																	90573429		1910	4129	6039			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90573429T>A	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90573429T>A						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.T667T|CASP8AP2_uc011dzz.1_Silent_p.T667T	p.T667T	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	7	2197	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	667						Silent	SNP	ENST00000551025.1	37	c.2001T>A																																																																																					0.418	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript			NM_001137667		20	11	0	0	0	0.010504	0	20	11		
PLEKHG1	57480	broad.mit.edu	37	6	151130805	151130805	+	Missense_Mutation	SNP	C	C	T	rs376799701		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:151130805C>T	ENST00000358517.2	+	10	1424	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.R405C			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	405	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAAGACAAACGCCTCTGGGT	0.493																																						uc003qny.1		NaN																	0				ovary(2)	2						c.(1213-1215)CGC>TGC		pleckstrin homology domain containing, family G		C	CYS/ARG	0,4406		0,0,2203	78.0	68.0	72.0		1213	5.9	1.0	6		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLEKHG1	NM_001029884.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	405/1386	151130805	1,13005	2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151130805C>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1213C>T	6.37:g.151130805C>T	ENSP00000351318:p.Arg405Cys					PLEKHG1_uc011eel.1_Missense_Mutation_p.R445C|PLEKHG1_uc011eem.1_Missense_Mutation_p.R464C|PLEKHG1_uc003qnz.2_Missense_Mutation_p.R405C	p.R405C	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	11	1525	+			405			PH.		Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1213C>T	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163242	0.78226	0.0	1.16E-4	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	D;D	0.88201	-2.35;-2.35	5.91	5.91	0.95273	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.051642	0.85682	D	0.000000	D	0.93680	0.7981	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.993;0.993	D	0.94012	0.7285	10	0.87932	D	0	.	15.0617	0.71961	0.1418:0.8582:0.0:0.0	.	212;405;405	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	C	405	ENSP00000356297:R405C;ENSP00000351318:R405C	ENSP00000351318:R405C	R	+	1	0	PLEKHG1	151172498	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.735000	0.47377	2.793000	0.96121	0.655000	0.94253	CGC		0.493	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1				15	27	0	0	0	0.020292	0	15	27		
SYNE1	23345	broad.mit.edu	37	6	152551705	152551705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:152551705G>A	ENST00000367255.5	-	115	21773	c.21172C>T	c.(21172-21174)Caa>Taa	p.Q7058*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q6987*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q7058*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q6670*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.Q1582*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q6987*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7058					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTGCATTTTGAACAGAAGCC	0.388										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(21172-21174)CAA>TAA		spectrin repeat containing, nuclear envelope 1							260.0	219.0	233.0					6																	152551705		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152551705G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21172C>T	6.37:g.152551705G>A	ENSP00000356224:p.Gln7058*	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Nonsense_Mutation_p.Q1582*|SYNE1_uc003qos.3_Nonsense_Mutation_p.Q1582*|SYNE1_uc003qot.3_Nonsense_Mutation_p.Q6987*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q7058*	p.Q7058*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	115	21774	-		Ovarian(120;0.0955)	7058			Cytoplasmic (Potential).|Spectrin 22.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.21172C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	45	11.867127	0.99612	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	.	.	.	5.6	3.79	0.43588	.	0.111526	0.40302	N	0.001138	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	16.4594	0.84031	0.0:0.2464:0.7536:0.0	.	.	.	.	X	7058;6987;7058;6987;6670;1582	.	ENSP00000265368:Q7058X	Q	-	1	0	SYNE1	152593398	1.000000	0.71417	0.982000	0.44146	0.800000	0.45204	6.396000	0.73234	0.685000	0.31468	0.563000	0.77884	CAA		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		15	120	0	0	0	0.007413	0	15	120		
PLEKHA8	84725	broad.mit.edu	37	7	30094400	30094400	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:30094400C>G	ENST00000449726.1	+	8	1222	c.872C>G	c.(871-873)tCa>tGa	p.S291*	PLEKHA8_ENST00000396259.1_Nonsense_Mutation_p.S291*|PLEKHA8_ENST00000258679.7_Nonsense_Mutation_p.S291*|PLEKHA8_ENST00000396257.2_Nonsense_Mutation_p.S291*	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	291					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CAGTCTGGATCAGACTCAAGT	0.388																																						uc003tam.1		NaN																	0				breast(3)|ovary(1)	4						c.(871-873)TCA>TGA		pleckstrin homology domain containing, family A							151.0	144.0	146.0					7																	30094400		2203	4300	6503	SO:0001587	stop_gained	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30094400C>G	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.872C>G	7.37:g.30094400C>G	ENSP00000397947:p.Ser291*					PLEKHA8_uc003tao.2_Nonsense_Mutation_p.S175*|PLEKHA8_uc003tap.1_Nonsense_Mutation_p.S291*|PLEKHA8_uc003tan.2_Nonsense_Mutation_p.S291*	p.S291*	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN			8	963	+			291					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Nonsense_Mutation	SNP	ENST00000449726.1	37	c.872C>G	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	C	37	6.408884	0.97542	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.63	1.49	0.22878	.	1.354100	0.05306	N	0.523902	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-13.0602	5.7476	0.18128	0.0:0.6008:0.1442:0.255	.	.	.	.	X	291;291;291;291;317	.	ENSP00000258679:S291X	S	+	2	0	PLEKHA8	30060925	0.000000	0.05858	0.001000	0.08648	0.205000	0.24178	0.300000	0.19156	0.812000	0.34326	0.655000	0.94253	TCA		0.388	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032639		22	68	0	0	0	0.014323	0	22	68		
PKD1L1	168507	broad.mit.edu	37	7	47930253	47930253	+	Silent	SNP	T	T	C	rs530943075		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:47930253T>C	ENST00000289672.2	-	16	2612	c.2562A>G	c.(2560-2562)caA>caG	p.Q854Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	854	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CACTGAGCCATTGTGCCTCAA	0.602																																						uc003tny.1		NaN																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(2560-2562)CAA>CAG		polycystin-1L1							90.0	77.0	81.0					7																	47930253		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47930253T>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2562A>G	7.37:g.47930253T>C							p.Q854Q	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			16	2562	-			854			Extracellular (Potential).|REJ.		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.2562A>G	CCDS34633.1																																																																																				0.602	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1		NM_138295		9	41	0	0	0	0.004482	0	9	41		
ZNF107	51427	broad.mit.edu	37	7	64168367	64168367	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:64168367A>T	ENST00000395391.1	+	4	3060	c.1685A>T	c.(1684-1686)aAc>aTc	p.N562I	ZNF107_ENST00000344930.3_Missense_Mutation_p.N562I|ZNF107_ENST00000423627.1_Missense_Mutation_p.N562I			Q9UII5	ZN107_HUMAN	zinc finger protein 107	562					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(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAAGTTTTTAACCAGTCCTCA	0.348																																						uc003ttd.2		NaN																	0				ovary(1)	1						c.(1684-1686)AAC>ATC		zinc finger protein 107							44.0	49.0	47.0					7																	64168367		2199	4296	6495	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168367A>T	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1685A>T	7.37:g.64168367A>T	ENSP00000378789:p.Asn562Ile					ZNF107_uc003tte.2_Missense_Mutation_p.N562I	p.N562I	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	2471	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	562			C2H2-type 18; atypical.			Missense_Mutation	SNP	ENST00000395391.1	37	c.1685A>T	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	9.881	1.201640	0.22121	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.14516	2.5;2.5;2.5	1.27	-0.258	0.12975	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05044	0.0135	N	0.04820	-0.15	0.09310	N	1	B	0.25272	0.122	B	0.21360	0.034	T	0.43556	-0.9384	8	.	.	.	.	4.3099	0.10965	0.4919:0.0:0.5081:0.0	.	562	Q9UII5	ZN107_HUMAN	I	562	ENSP00000343443:N562I;ENSP00000400037:N562I;ENSP00000378789:N562I	.	N	+	2	0	ZNF107	63805802	0.000000	0.05858	0.008000	0.14137	0.218000	0.24690	-3.022000	0.00642	-0.227000	0.09884	0.260000	0.18958	AAC		0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1		NM_016220		32	50	0	0	0	0.009535	0	32	50		
ZNF804B	219578	broad.mit.edu	37	7	88965564	88965564	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:88965564G>C	ENST00000333190.4	+	4	3877	c.3268G>C	c.(3268-3270)Gag>Cag	p.E1090Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1090							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGATTCAACAGAGACCCAAGA	0.363										HNSCC(36;0.09)																												uc011khi.1		NaN																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3268-3270)GAG>CAG		zinc finger protein 804B							55.0	54.0	55.0					7																	88965564		2202	4299	6501	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965564G>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3268G>C	7.37:g.88965564G>C	ENSP00000329638:p.Glu1090Gln	HNSCC(36;0.09)					p.E1090Q	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3806	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1090					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3268G>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278245	0.59758	.	.	ENSG00000182348	ENST00000333190	T	0.06371	3.31	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000006	T	0.13798	0.0334	L	0.36672	1.1	0.29932	N	0.821854	D	0.89917	1.0	D	0.68765	0.96	T	0.01416	-1.1360	10	0.34782	T	0.22	-17.1786	11.6105	0.51057	0.0818:0.0:0.9182:0.0	.	1090	A4D1E1	Z804B_HUMAN	Q	1090	ENSP00000329638:E1090Q	ENSP00000329638:E1090Q	E	+	1	0	ZNF804B	88803500	1.000000	0.71417	0.990000	0.47175	0.915000	0.54546	4.508000	0.60441	2.579000	0.87056	0.655000	0.94253	GAG		0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2		NM_181646		18	49	0	0	0	0.00499	0	18	49		
CADPS2	93664	broad.mit.edu	37	7	122261661	122261661	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:122261661C>T	ENST00000449022.2	-	5	997	c.978G>A	c.(976-978)tcG>tcA	p.S326S	CADPS2_ENST00000334010.7_Silent_p.S326S|CADPS2_ENST00000313070.7_Silent_p.S326S|CADPS2_ENST00000412584.2_Silent_p.S326S	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	326					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.S326S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GACCACCTTTCGAAACTGGAA	0.368																																						uc010lkp.2		NaN																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)|central_nervous_system(1)	2						c.(976-978)TCG>TCA		Ca2+-dependent activator protein for secretion 2							88.0	86.0	87.0					7																	122261661		1803	4072	5875	SO:0001819	synonymous_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122261661C>T		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.978G>A	7.37:g.122261661C>T						CADPS2_uc003vkg.3_Silent_p.S26S|CADPS2_uc010lkq.2_Silent_p.S326S	p.S326S	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			5	1141	-			326					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	c.978G>A	CCDS55158.1																																																																																				0.368	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2		NM_017954		17	69	0	0	0	0.028581	0	17	69		
ZC3HC1	51530	broad.mit.edu	37	7	129680811	129680811	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:129680811G>T	ENST00000358303.4	-	3	473	c.389C>A	c.(388-390)cCa>cAa	p.P130Q	ZC3HC1_ENST00000481503.1_Missense_Mutation_p.P130Q|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.P109Q|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.P130Q	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	130					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GTCAAAAGCTGGTTGTAAACT	0.418																																					Melanoma(115;540 1606 16325 28853 48167)	uc003vpi.2		NaN																	0					0						c.(388-390)CCA>CAA		zinc finger, C3HC type 1							144.0	146.0	145.0					7																	129680811		2203	4300	6503	SO:0001583	missense	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129680811G>T	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.389C>A	7.37:g.129680811G>T	ENSP00000351052:p.Pro130Gln					ZC3HC1_uc003vph.2_Missense_Mutation_p.P17Q|ZC3HC1_uc010lma.2_Missense_Mutation_p.P17Q	p.P130Q	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN			3	416	-	Melanoma(18;0.0435)		130			C3HC-type.		A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	c.389C>A	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969269	0.74246	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503;ENST00000480193	T;T;T;T	0.47177	1.44;0.86;1.45;0.85	5.55	4.67	0.58626	Zinc finger, C3HC-like (1);	0.183316	0.48286	D	0.000195	T	0.58779	0.2146	L	0.50333	1.59	0.35449	D	0.79553	D;D;D	0.76494	0.997;0.999;0.999	P;D;D	0.69824	0.878;0.965;0.966	T	0.66885	-0.5810	10	0.42905	T	0.14	-5.8251	10.173	0.42922	0.1614:0.0:0.8386:0.0	.	130;130;130	Q86WB0-3;Q86WB0;C9J0I9	.;NIPA_HUMAN;.	Q	130;130;109;130;130	ENSP00000351052:P130Q;ENSP00000353933:P130Q;ENSP00000309301:P109Q;ENSP00000418533:P130Q	ENSP00000309301:P109Q	P	-	2	0	ZC3HC1	129468047	1.000000	0.71417	0.923000	0.36655	0.996000	0.88848	3.786000	0.55431	1.339000	0.45563	0.462000	0.41574	CCA		0.418	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1		NM_016478		32	129	1	0	8.88839e-20	0.010818	1.01971e-19	32	129		
GIMAP8	155038	broad.mit.edu	37	7	150171609	150171609	+	Missense_Mutation	SNP	G	G	A	rs536291210	byFrequency	TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:150171609G>A	ENST00000307271.3	+	4	1766	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	398	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAGATATAGTGCCTTCAACTA	0.443																																						uc003whj.2		NaN																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1192-1194)GCC>ACC		GTPase, IMAP family member 8							126.0	134.0	132.0					7																	150171609		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150171609G>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1192G>A	7.37:g.150171609G>A	ENSP00000305107:p.Ala398Thr						p.A398T	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	4	1522	+			398						Missense_Mutation	SNP	ENST00000307271.3	37	c.1192G>A	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149703	0.37923	.	.	ENSG00000171115	ENST00000307271	T	0.60424	0.19	4.47	-5.28	0.02755	AIG1 (1);	1.933280	0.02733	N	0.115303	T	0.55065	0.1897	M	0.82517	2.595	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.28138	-1.0053	10	0.17832	T	0.49	.	6.8779	0.24156	0.5454:0.0:0.335:0.1196	.	398	Q8ND71	GIMA8_HUMAN	T	398	ENSP00000305107:A398T	ENSP00000305107:A398T	A	+	1	0	GIMAP8	149802542	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	0.535000	0.23114	-1.142000	0.02869	0.650000	0.86243	GCC		0.443	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1		NM_175571		24	110	0	0	0	0.016522	0	24	110		
DPP6	1804	broad.mit.edu	37	7	154595651	154595651	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:154595651G>C	ENST00000377770.3	+	14	1626	c.1485G>C	c.(1483-1485)gaG>gaC	p.E495D	DPP6_ENST00000332007.3_Missense_Mutation_p.E433D|DPP6_ENST00000404039.1_Missense_Mutation_p.E431D|DPP6_ENST00000427557.1_Missense_Mutation_p.E388D			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	495					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCTACGATGAGAAGGGGAATA	0.502																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NaN																	0				pancreas(3)|breast(1)	4						c.(1483-1485)GAG>GAC		dipeptidyl-peptidase 6 isoform 1							65.0	66.0	66.0					7																	154595651		2025	4157	6182	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154595651G>C	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1485G>C	7.37:g.154595651G>C	ENSP00000367001:p.Glu495Asp					DPP6_uc003wli.2_Missense_Mutation_p.E431D|DPP6_uc003wlm.2_Missense_Mutation_p.E433D|DPP6_uc011kvq.1_Missense_Mutation_p.E388D	p.E495D	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		14	1614	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	495			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.1485G>C		.	.	.	.	.	.	.	.	.	.	G	18.04	3.535159	0.64972	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.19	3.37	0.38596	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.210313	0.48767	D	0.000168	T	0.37046	0.0989	M	0.65677	2.01	0.42558	D	0.993133	P;B;P;B	0.44429	0.835;0.397;0.57;0.317	P;B;B;B	0.49477	0.612;0.147;0.342;0.229	T	0.21348	-1.0248	10	0.59425	D	0.04	-41.1762	5.3919	0.16249	0.3933:0.0:0.6067:0.0	.	388;433;495;431	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	D	431;495;433;388	ENSP00000385578:E431D;ENSP00000367001:E495D;ENSP00000328226:E433D;ENSP00000397303:E388D	ENSP00000328226:E433D	E	+	3	2	DPP6	154226584	1.000000	0.71417	0.998000	0.56505	0.764000	0.43329	1.692000	0.37731	1.174000	0.42811	0.655000	0.94253	GAG		0.502	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1		NM_130797		4	12	0	0	0	0.009096	0	4	12		
ADRA1A	148	broad.mit.edu	37	8	26628136	26628136	+	Missense_Mutation	SNP	C	C	T	rs267601877		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:26628136C>T	ENST00000519229.1	-	2	937	c.931G>A	c.(931-933)Gta>Ata	p.V311I	ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.V311I|ADRA1A_ENST00000380582.3_Missense_Mutation_p.V311I|ADRA1A_ENST00000380573.3_Missense_Mutation_p.V311I|ADRA1A_ENST00000380586.1_Missense_Mutation_p.V311I|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.V311I			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	387					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.V311I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	AGCCAAAATACTATTTTAAAA	0.393																																						uc003xfh.1		NaN																	1	Substitution - Missense(1)	p.V311I(1)	skin(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5	GRCh37	CM057864	ADRA1A	M		c.(931-933)GTA>ATA		alpha-1A-adrenergic receptor isoform 1	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						70.0	77.0	75.0					8																	26628136		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26628136C>T	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.931G>A	8.37:g.26628136C>T	ENSP00000430793:p.Val311Ile					ADRA1A_uc003xfc.1_Missense_Mutation_p.V311I|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.V311I|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.V311I	p.V311I	NM_000680	NP_000671	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1367	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	311			Helical; Name=7; (By similarity).		Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.931G>A		.	.	.	.	.	.	.	.	.	.	C	9.975	1.226421	0.22542	.	.	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	5.83	5.83	0.93111	GPCR, rhodopsin-like superfamily (1);	0.452878	0.22529	N	0.058870	T	0.46268	0.1384	N	0.10945	0.07	0.80722	D	1	B;B;B;B	0.09022	0.0;0.001;0.0;0.002	B;B;B;B	0.11329	0.002;0.002;0.001;0.006	T	0.43718	-0.9374	10	0.02654	T	1	.	10.5478	0.45070	0.0:0.8559:0.0:0.1441	.	311;311;311;311	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	I	311	ENSP00000369960:V311I;ENSP00000369956:V311I;ENSP00000430793:V311I;ENSP00000346557:V311I;ENSP00000276393:V311I;ENSP00000369947:V311I	ENSP00000276393:V311I	V	-	1	0	ADRA1A	26684053	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.254000	0.51477	2.770000	0.95276	0.655000	0.94253	GTA		0.393	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1		NM_033303		19	62	0	0	0	0.007413	0	19	62		
FZD3	7976	broad.mit.edu	37	8	28384671	28384671	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:28384671G>A	ENST00000240093.3	+	5	872	c.394G>A	c.(394-396)Gat>Aat	p.D132N	FZD3_ENST00000537916.1_Missense_Mutation_p.D132N	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	132	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TAGGTTCCCAGATTGTGATGA	0.423																																						uc003xgx.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(394-396)GAT>AAT		frizzled 3 precursor							134.0	145.0	141.0					8																	28384671		2203	4300	6503	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28384671G>A	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.394G>A	8.37:g.28384671G>A	ENSP00000240093:p.Asp132Asn					FZD3_uc010lvb.2_Missense_Mutation_p.D132N	p.D132N	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	872	+		Ovarian(32;2.06e-05)	132			FZ.|Extracellular (Potential).		A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.394G>A	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545021	0.27652	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	T;T	0.75589	-0.95;-0.95	4.94	4.06	0.47325	Frizzled domain (5);	0.047768	0.85682	D	0.000000	T	0.61640	0.2363	L	0.31207	0.915	0.80722	D	1	B	0.17038	0.02	B	0.18263	0.021	T	0.54675	-0.8258	10	0.15952	T	0.53	.	14.0455	0.64702	0.0:0.0:0.848:0.152	.	132	Q9NPG1	FZD3_HUMAN	N	132	ENSP00000437489:D132N;ENSP00000240093:D132N	ENSP00000240093:D132N	D	+	1	0	FZD3	28440590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.858000	0.86971	1.182000	0.42928	0.655000	0.94253	GAT		0.423	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2		NM_145866		26	81	0	0	0	0.009535	0	26	81		
TRPA1	8989	broad.mit.edu	37	8	72946563	72946563	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:72946563T>A	ENST00000262209.4	-	22	2812	c.2605A>T	c.(2605-2607)Act>Tct	p.T869S	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	869					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTCAACAAAGTTTTCAAAATT	0.294																																						uc003xza.2		NaN																	0				ovary(4)|lung(1)|kidney(1)	6						c.(2605-2607)ACT>TCT		ankyrin-like protein 1	Menthol(DB00825)						66.0	68.0	67.0					8																	72946563		2203	4298	6501	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72946563T>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2605A>T	8.37:g.72946563T>A	ENSP00000262209:p.Thr869Ser					uc011lff.1_Intron|uc003xyy.2_Intron	p.T869S	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		22	2780	-			869			Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2605A>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.597822	0.87055	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.34667	1.35;1.35	5.84	5.84	0.93424	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	M	0.76938	2.355	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.64546	-0.6382	10	0.51188	T	0.08	-25.5508	16.2116	0.82165	0.0:0.0:0.0:1.0	.	869	O75762	TRPA1_HUMAN	S	721;869	ENSP00000428151:T721S;ENSP00000262209:T869S	ENSP00000262209:T869S	T	-	1	0	TRPA1	73109117	1.000000	0.71417	0.994000	0.49952	0.934000	0.57294	6.347000	0.73004	2.236000	0.73375	0.533000	0.62120	ACT		0.294	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2		NM_007332		14	53	0	0	0	0.016723	0	14	53		
TRPA1	8989	broad.mit.edu	37	8	72964852	72964852	+	Missense_Mutation	SNP	G	G	A	rs147715599		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:72964852G>A	ENST00000262209.4	-	14	2000	c.1793C>T	c.(1792-1794)aCg>aTg	p.T598M	RP11-383H13.1_ENST00000524152.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	598					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CCTGATGATCGTAAGAACAAC	0.448																																						uc003xza.2		NaN																	0				ovary(4)|lung(1)|kidney(1)	6						c.(1792-1794)ACG>ATG		ankyrin-like protein 1	Menthol(DB00825)	G	MET/THR	0,4406		0,0,2203	141.0	122.0	129.0		1793	2.2	0.1	8	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRPA1	NM_007332.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	598/1120	72964852	1,13005	2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72964852G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1793C>T	8.37:g.72964852G>A	ENSP00000262209:p.Thr598Met					uc011lff.1_RNA|uc003xyy.2_RNA	p.T598M	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		14	1968	-			598			ANK 15.|Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1793C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	5.248	0.231234	0.09969	0.0	1.16E-4	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.63913	-0.07;-0.07	4.98	2.19	0.27852	Ankyrin repeat-containing domain (3);	0.254047	0.47852	N	0.000208	T	0.44393	0.1291	L	0.52364	1.645	0.09310	N	1	P	0.40970	0.734	B	0.24541	0.054	T	0.28713	-1.0035	10	0.33940	T	0.23	-3.4347	8.5498	0.33444	0.3012:0.0:0.6988:0.0	.	598	O75762	TRPA1_HUMAN	M	450;598	ENSP00000428151:T450M;ENSP00000262209:T598M	ENSP00000262209:T598M	T	-	2	0	TRPA1	73127406	0.949000	0.32298	0.066000	0.19879	0.208000	0.24298	1.698000	0.37794	0.231000	0.21079	0.585000	0.79938	ACG		0.448	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2		NM_007332		24	72	0	0	0	0.016522	0	24	72		
VPS13B	157680	broad.mit.edu	37	8	100866463	100866463	+	Missense_Mutation	SNP	G	G	T	rs149659649	byFrequency	TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:100866463G>T	ENST00000358544.2	+	56	11032	c.10921G>T	c.(10921-10923)Gct>Tct	p.A3641S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.A3616S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3641					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCACTATGCCGCTGGGGCCCT	0.552																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(10921-10923)GCT>TCT		vacuolar protein sorting 13B isoform 5							48.0	43.0	45.0					8																	100866463		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100866463G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10921G>T	8.37:g.100866463G>T	ENSP00000351346:p.Ala3641Ser					VPS13B_uc003yiw.2_Missense_Mutation_p.A3616S	p.A3641S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	11032	+	Breast(36;3.73e-07)		3641					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.10921G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	4.215	0.038696	0.08148	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.66280	-0.2;-0.19	5.5	3.7	0.42460	.	0.115914	0.56097	N	0.000021	T	0.37019	0.0988	N	0.05554	-0.025	0.80722	D	1	B;B	0.13145	0.002;0.007	B;B	0.19148	0.024;0.014	T	0.10109	-1.0644	10	0.09338	T	0.73	.	10.7548	0.46230	0.0683:0.0:0.8003:0.1314	.	3616;3641	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	S	3616;3641	ENSP00000349685:A3616S;ENSP00000351346:A3641S	ENSP00000349685:A3616S	A	+	1	0	VPS13B	100935639	1.000000	0.71417	0.265000	0.24526	0.854000	0.48673	6.151000	0.71806	0.666000	0.31087	-0.157000	0.13467	GCT		0.552	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		22	17	1	0	2.37509e-13	0.010504	2.67556e-13	22	17		
ZNF706	51123	broad.mit.edu	37	8	102213947	102213947	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:102213947A>T	ENST00000520347.1	-	2	2979	c.23T>A	c.(22-24)aTt>aAt	p.I8N	ZNF706_ENST00000311212.4_Missense_Mutation_p.I8N|ZNF706_ENST00000518336.1_Missense_Mutation_p.I8N|ZNF706_ENST00000521272.1_Missense_Mutation_p.I8N|ZNF706_ENST00000520984.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519744.1_Missense_Mutation_p.I8N|ZNF706_ENST00000517844.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519882.1_Missense_Mutation_p.I8N			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	8							metal ion binding (GO:0046872)			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGAGACTGAATTTTCTGCTG	0.393																																						uc003yka.2		NaN																	0				ovary(2)	2						c.(22-24)ATT>AAT		HSPC038 protein							91.0	82.0	85.0					8																	102213947		2203	4300	6503	SO:0001583	missense	51123					intracellular	zinc ion binding	g.chr8:102213947A>T	AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.23T>A	8.37:g.102213947A>T	ENSP00000430823:p.Ile8Asn					ZNF706_uc003ykb.2_Missense_Mutation_p.I8N	p.I8N	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)		3	438	-	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		8					A8K362	Missense_Mutation	SNP	ENST00000520347.1	37	c.23T>A	CCDS6291.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895185	0.72639	.	.	ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000519744;ENST00000517844;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336;ENST00000523922;ENST00000520454	.	.	.	5.39	5.39	0.77823	.	0.098661	0.64402	D	0.000002	T	0.46927	0.1418	.	.	.	0.80722	D	1	P	0.45569	0.861	B	0.36567	0.228	T	0.55798	-0.8084	8	0.87932	D	0	-7.7891	15.4421	0.75190	1.0:0.0:0.0:0.0	.	8	Q9Y5V0	ZN706_HUMAN	N	8	.	ENSP00000311768:I8N	I	-	2	0	ZNF706	102283123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.054000	0.61138	0.533000	0.62120	ATT		0.393	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380477.1		NM_016096		8	36	0	0	0	0.010729	0	8	36		
OPLAH	26873	broad.mit.edu	37	8	145113243	145113243	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:145113243G>A	ENST00000426825.1	-	7	929	c.848C>T	c.(847-849)tCc>tTc	p.S283F	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	283					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACAGCACTGGAGCCGCTGAA	0.687																																						uc003zar.3		NaN																	0					0						c.(847-849)TCC>TTC		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						6.0	9.0	8.0					8																	145113243		1946	4109	6055	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145113243G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.848C>T	8.37:g.145113243G>A	ENSP00000475943:p.Ser283Phe					OPLAH_uc003zat.1_Missense_Mutation_p.S61F	p.S283F	NM_017570	NP_060040	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		7	930	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		283					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.848C>T		.	.	.	.	.	.	.	.	.	.	G	11.25	1.582672	0.28180	.	.	ENSG00000178814	ENST00000426825	.	.	.	3.95	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	.	.	.	0.52099	D	0.999946	B;D	0.89917	0.087;1.0	B;D	0.80764	0.163;0.994	T	0.76708	-0.2860	7	0.33940	T	0.23	.	13.5167	0.61545	0.0:0.0:1.0:0.0	.	283;283	A7E261;O14841	.;OPLA_HUMAN	F	283	.	ENSP00000412071:S283F	S	-	2	0	OPLAH	145185231	1.000000	0.71417	0.998000	0.56505	0.523000	0.34469	8.933000	0.92911	1.742000	0.51746	0.467000	0.42956	TCC		0.687	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_017570		4	10	0	0	0	0.009096	0	4	10		
TAF1L	138474	broad.mit.edu	37	9	32633772	32633772	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:32633772G>A	ENST00000242310.4	-	1	1895	c.1806C>T	c.(1804-1806)acC>acT	p.T602T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	602					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCCTCCAAAGGTGCCCCGAA	0.483																																						uc003zrg.1		NaN																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(1804-1806)ACC>ACT		TBP-associated factor RNA polymerase 1-like							145.0	153.0	151.0					9																	32633772		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633772G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1806C>T	9.37:g.32633772G>A						uc003zrh.1_RNA	p.T602T	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1896	-			602					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.1806C>T	CCDS35003.1																																																																																				0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2				55	126	0	0	0	0.01441	0	55	126		
ABCA1	19	broad.mit.edu	37	9	107580989	107580989	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:107580989G>A	ENST00000374736.3	-	23	3811	c.3417C>T	c.(3415-3417)ctC>ctT	p.L1139L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1139					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TGCAGGAACTGAGGGAGGATT	0.537																																						uc004bcl.2		NaN																	0				large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(3415-3417)CTC>CTT		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						150.0	133.0	139.0					9																	107580989		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107580989G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3417C>T	9.37:g.107580989G>A							p.L1139L	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	23	3730	-			1139					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.3417C>T	CCDS6762.1																																																																																				0.537	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1		NM_005502		6	84	0	0	0	0.021553	0	6	84		
SVEP1	79987	broad.mit.edu	37	9	113149637	113149637	+	Missense_Mutation	SNP	T	T	C	rs372409135		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:113149637T>C	ENST00000401783.2	-	42	10324	c.9988A>G	c.(9988-9990)Agt>Ggt	p.S3330G	SVEP1_ENST00000297826.5_Missense_Mutation_p.S1256G|SVEP1_ENST00000374469.1_Missense_Mutation_p.S3307G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3330	Sushi 32. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTTCAAGACTGTAGCCTCTG	0.483													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17311	0.0		0.0	False		,,,				2504	0.0					uc010mtz.2		NaN																	0				ovary(7)	7						c.(9988-9990)AGT>GGT		polydom		T	GLY/SER	1,3859		0,1,1929	136.0	135.0	136.0		9988	5.1	1.0	9		136	0,8246		0,0,4123	no	missense	SVEP1	NM_153366.3	56	0,1,6052	CC,CT,TT		0.0,0.0259,0.0083	possibly-damaging	3330/3572	113149637	1,12105	1930	4123	6053	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113149637T>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9988A>G	9.37:g.113149637T>C	ENSP00000384917:p.Ser3330Gly					SVEP1_uc010mty.2_Missense_Mutation_p.S1256G	p.S3330G	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			42	10325	-			3330			Sushi 32.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.9988A>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.574210	0.28092	2.59E-4	0.0	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.64991	-0.13;-0.13;-0.13	5.09	5.09	0.68999	Complement control module (2);Sushi/SCR/CCP (3);	0.509478	0.23688	N	0.045558	T	0.62073	0.2398	M	0.75264	2.295	0.80722	D	1	P	0.34837	0.472	B	0.34536	0.185	T	0.61342	-0.7082	10	0.22706	T	0.39	.	15.2166	0.73270	0.0:0.0:0.0:1.0	.	3330	Q4LDE5	SVEP1_HUMAN	G	3330;3307;1256	ENSP00000384917:S3330G;ENSP00000363593:S3307G;ENSP00000297826:S1256G	ENSP00000297826:S1256G	S	-	1	0	SVEP1	112189458	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	3.048000	0.49862	2.047000	0.60756	0.529000	0.55759	AGT		0.483	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					19	50	0	0	0	0.006122	0	19	50		
SPTAN1	6709	broad.mit.edu	37	9	131388859	131388859	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:131388859G>A	ENST00000372731.4	+	48	6564	c.6454G>A	c.(6454-6456)Gag>Aag	p.E2152K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E2157K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E2157K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2152					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCAGCTGGCCGAGCTGGACCG	0.597																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(6454-6456)GAG>AAG		spectrin, alpha, non-erythrocytic 1							36.0	38.0	37.0					9																	131388859		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131388859G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6454G>A	9.37:g.131388859G>A	ENSP00000361816:p.Glu2152Lys					SPTAN1_uc004bvm.3_Missense_Mutation_p.E2157K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E2132K|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR	p.E2152K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			48	6567	+			2152			Spectrin 22.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.6454G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485750	0.84854	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.54071	0.59;0.59;0.59	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	N	0.25245	0.725	0.80722	D	1	P;D;D	0.65815	0.937;0.995;0.995	B;D;P	0.68192	0.304;0.956;0.903	T	0.59852	-0.7376	10	0.38643	T	0.18	.	19.4754	0.94985	0.0:0.0:1.0:0.0	.	2132;2157;2152	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	K	2157;2152;2157;2132;401	ENSP00000350882:E2157K;ENSP00000361816:E2152K;ENSP00000361824:E2157K	ENSP00000350882:E2157K	E	+	1	0	SPTAN1	130428680	1.000000	0.71417	0.979000	0.43373	0.983000	0.72400	9.476000	0.97823	2.597000	0.87782	0.563000	0.77884	GAG		0.597	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		13	36	0	0	0	0.013537	0	13	36		
COL5A1	1289	broad.mit.edu	37	9	137710579	137710579	+	Silent	SNP	G	G	A	rs200073020	byFrequency	TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:137710579G>A	ENST00000371817.3	+	55	4722	c.4308G>A	c.(4306-4308)ccG>ccA	p.P1436P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1436	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.P1436P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCCCGGACCGGATGGCCTTC	0.697													g|||	3	0.000599042	0.0015	0.0	5008	,	,		13123	0.001		0.0	False		,,,				2504	0.0					uc004cfe.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(4306-4308)CCG>CCA		alpha 1 type V collagen preproprotein		A		1,4399		0,1,2199	15.0	18.0	17.0		4308	-9.4	0.0	9		17	1,8595		0,1,4297	no	coding-synonymous	COL5A1	NM_000093.3		0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154		1436/1839	137710579	2,12994	2200	4298	6498	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137710579G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4308G>A	9.37:g.137710579G>A							p.P1436P	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	55	4690	+		Myeloproliferative disorder(178;0.0341)	1436			Triple-helical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.4308G>A	CCDS6982.1																																																																																				0.697	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		NM_000093		4	12	0	0	0	0.014758	0	4	12		
NOTCH1	4851	broad.mit.edu	37	9	139393627	139393627	+	Missense_Mutation	SNP	C	C	T	rs374168429		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:139393627C>T	ENST00000277541.6	-	32	6094	c.6019G>A	c.(6019-6021)Gtg>Atg	p.V2007M		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2007					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGCCCTCCACGGCCAGGCGG	0.657			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NaN		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(6019-6021)GTG>ATG		notch1 preproprotein		C	MET/VAL	0,4402		0,0,2201	65.0	73.0	70.0		6019	5.1	1.0	9		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOTCH1	NM_017617.3	21	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	2007/2556	139393627	1,13001	2201	4300	6501	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139393627C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6019G>A	9.37:g.139393627C>T	ENSP00000277541:p.Val2007Met	HNSCC(8;0.001)					p.V2007M	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	32	6019	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2007			ANK 3.|Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.6019G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178731	0.94846	0.0	1.16E-4	ENSG00000148400	ENST00000277541	T	0.64260	-0.09	5.07	5.07	0.68467	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	P	0.53401	0.725	T	0.65368	-0.6185	10	0.52906	T	0.07	.	17.7871	0.88541	0.0:1.0:0.0:0.0	.	2007	P46531	NOTC1_HUMAN	M	2007	ENSP00000277541:V2007M	ENSP00000277541:V2007M	V	-	1	0	NOTCH1	138513448	1.000000	0.71417	0.972000	0.41901	0.982000	0.71751	7.243000	0.78219	2.512000	0.84698	0.561000	0.74099	GTG		0.657	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1		NM_017617		18	27	0	0	0	0.006122	0	18	27		
C9orf172	389813	broad.mit.edu	37	9	139739888	139739888	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:139739888C>T	ENST00000436881.1	+	1	1022	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	341	Pro-rich.									endometrium(2)|large_intestine(1)|lung(6)	9						GAACCGCCCTCCCGCTCCTAC	0.701																																						uc011meh.1		NaN																	0					0						c.(1021-1023)TCC>TTC		chromosome 9 open reading frame 172							13.0	15.0	15.0					9																	139739888		1923	4109	6032	SO:0001583	missense	389813							g.chr9:139739888C>T		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.1022C>T	9.37:g.139739888C>T	ENSP00000412388:p.Ser341Phe					PHPT1_uc004cjp.2_5'Flank	p.S341F	NM_001080482	NP_001073951	C9J069	CI172_HUMAN			1	1022	+			341			Pro-rich.			Missense_Mutation	SNP	ENST00000436881.1	37	c.1022C>T	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	10.18	1.279401	0.23307	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.5	3.5	0.40072	.	.	.	.	.	T	0.29817	0.0745	L	0.29908	0.895	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.16928	-1.0386	8	0.72032	D	0.01	.	6.6647	0.23035	0.0:0.8683:0.0:0.1317	.	341	C9J069	CI172_HUMAN	F	341	.	ENSP00000412388:S341F	S	+	2	0	C9orf172	138859709	0.006000	0.16342	0.998000	0.56505	0.904000	0.53231	1.706000	0.37878	1.794000	0.52575	0.537000	0.68136	TCC		0.701	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001080482		5	17	0	0	0	0.014758	0	5	17		
NLGN4X	57502	broad.mit.edu	37	X	6069450	6069450	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chrX:6069450T>A	ENST00000381095.3	-	2	685	c.58A>T	c.(58-60)Atg>Ttg	p.M20L	NLGN4X_ENST00000275857.6_Missense_Mutation_p.M20L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.M20L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.M20L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.M20L|NLGN4X_ENST00000469740.1_5'UTR	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	20					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GAGTTTAACATGACGCAGACC	0.498																																						uc010ndh.2		NaN																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(58-60)ATG>TTG		X-linked neuroligin 4 precursor							114.0	85.0	95.0					X																	6069450		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:6069450T>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.58A>T	X.37:g.6069450T>A	ENSP00000370485:p.Met20Leu					NLGN4X_uc004crp.2_Missense_Mutation_p.M20L|NLGN4X_uc004crq.2_Missense_Mutation_p.M20L|NLGN4X_uc010ndi.2_Missense_Mutation_p.M20L|NLGN4X_uc004crr.2_Missense_Mutation_p.M20L|NLGN4X_uc010ndj.2_Missense_Mutation_p.M20L	p.M20L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			2	559	-			20					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.58A>T	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.185686	0.00305	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.63417	-0.04;-0.03;-0.04;-0.04;-0.04	4.07	1.56	0.23342	.	.	.	.	.	T	0.29882	0.0747	N	0.08118	0	0.18873	N	0.999984	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.25882	-1.0119	9	0.02654	T	1	.	1.7681	0.03006	0.1668:0.0949:0.1697:0.5687	.	20;20;20	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	L	20	ENSP00000370485:M20L;ENSP00000370483:M20L;ENSP00000275857:M20L;ENSP00000370482:M20L;ENSP00000439203:M20L	ENSP00000275857:M20L	M	-	1	0	NLGN4X	6079450	1.000000	0.71417	0.007000	0.13788	0.118000	0.20060	0.871000	0.28023	-0.041000	0.13558	-0.466000	0.05196	ATG		0.498	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1		NM_020742		25	13	0	0	0	0.027356	0	25	13		
CXorf66	347487	broad.mit.edu	37	X	139038603	139038603	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chrX:139038603C>T	ENST00000370540.1	-	3	561	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	180						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TGTGCCTTTTCCAGGTGAGAT	0.413																																						uc004fbb.2		NaN																	0					0						c.(538-540)GAA>AAA		hypothetical protein LOC347487 precursor							267.0	241.0	250.0					X																	139038603		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038603C>T		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.538G>A	X.37:g.139038603C>T	ENSP00000359571:p.Glu180Lys						p.E180K	NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN			3	560	-			180			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000370540.1	37	c.538G>A	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469783	0.43839	.	.	ENSG00000203933	ENST00000370540	T	0.50277	0.75	4.31	-0.977	0.10282	.	0.993770	0.08162	N	0.988402	T	0.34890	0.0913	L	0.32530	0.975	0.09310	N	1	P	0.41393	0.748	B	0.40101	0.319	T	0.22556	-1.0213	9	.	.	.	-5.2714	8.0634	0.30646	0.0:0.3533:0.0:0.6467	.	180	Q5JRM2	CX066_HUMAN	K	180	ENSP00000359571:E180K	.	E	-	1	0	CXorf66	138866269	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-2.113000	0.01331	-0.394000	0.07727	0.583000	0.79449	GAA		0.413	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1		NM_001013403		65	149	0	0	0	0.01441	0	65	149		
PCDH11Y	83259	broad.mit.edu	37	Y	4968004	4968004	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chrY:4968004C>T	ENST00000333703.4	+	5	2865	c.2352C>T	c.(2350-2352)ttC>ttT	p.F784F	PCDH11Y_ENST00000362095.5_Silent_p.F795F|PCDH11Y_ENST00000215473.6_Silent_p.F795F	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	795	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATTCTCTCTTCAGTGTTGTAA	0.423																																						uc004fqo.2		NaN																	0					0						c.(2383-2385)TTC>TTT		protocadherin 11 Y-linked isoform c																																				SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4968004C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.2352C>T	Y.37:g.4968004C>T						PCDH11Y_uc010nwg.1_Silent_p.F784F|PCDH11Y_uc004fql.1_Silent_p.F784F|PCDH11Y_uc004fqm.1_Silent_p.F784F|PCDH11Y_uc004fqn.1_Silent_p.F795F|PCDH11Y_uc004fqp.1_Silent_p.F566F	p.F795F	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			2	3119	+			795			Cadherin 7.|Extracellular (Potential).		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000333703.4	37	c.2385C>T	CCDS14776.1																																																																																				0.423	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2		NM_032973		8	130	0	0	0	0.010729	0	8	130		
CCDC83	220047	broad.mit.edu	37	11	85593685	85593685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:85593685delA	ENST00000342404.3	+	4	526	c.310delA	c.(310-312)aagfs	p.K104fs	CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000280245.4_Frame_Shift_Del_p.K104fs|CCDC83_ENST00000376067.1_Frame_Shift_Del_p.K61fs			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	104										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GGAAAAATGGAAGTTTGAAAG	0.378																																						uc001pbh.1		NaN																	0				skin(1)	1						c.(310-312)AAGfs		coiled-coil domain containing 83							84.0	80.0	81.0					11																	85593685		2203	4299	6502	SO:0001589	frameshift_variant	220047							g.chr11:85593685delA	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.310delA	11.37:g.85593685delA	ENSP00000344512:p.Lys104fs					CCDC83_uc001pbg.1_Frame_Shift_Del_p.K104fs|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Frame_Shift_Del_p.K61fs	p.K104fs	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN			4	822	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	104			Potential.		B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Frame_Shift_Del	DEL	ENST00000342404.3	37	c.310delA																																																																																					0.378	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1		NM_173556		23	75	NaN	NaN	NaN	NaN	NaN	23	75	---	---
TP53	7157	broad.mit.edu	37	17	7577104	7577105	+	Frame_Shift_Ins	INS	-	-	GGACAGGC			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08			-	GGACAGGC	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr17:7577104_7577105insGGACAGGC	ENST00000269305.4	-	8	1022_1023	c.833_834insGCCTGTCC	c.(832-834)cctfs	p.-278fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.-278fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.-278fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.-278fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Frame_Shift_Ins_p.-278fs|TP53_ENST00000574684.1_5'Flank	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						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.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.R280fs*65(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.P278_G279insXXXXX(1)|p.P278P(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GGTCTCTCCCAGGACAGGCACA	0.554		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)	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		134	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)|Complex - frameshift(1)|Substitution - coding silent(1)	p.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(17)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.R280fs*65(2)|p.P278fs*28(2)|p.?(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)	large_intestine(18)|lung(18)|skin(16)|upper_aerodigestive_tract(13)|haematopoietic_and_lymphoid_tissue(12)|breast(10)|kidney(8)|ovary(8)|central_nervous_system(7)|oesophagus(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(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	CM961376	TP53	M		c.(832-834)CCTfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|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.chr17:7577104_7577105insGGACAGGC	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.826_833dupGCCTGTCC	17.37:g.7577105_7577112dupGGACAGGC	ENSP00000269305:p.Pro278fs	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_Frame_Shift_Ins_p.P278fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.P146fs|TP53_uc010cng.1_Frame_Shift_Ins_p.P146fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P146fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P278fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P278fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P278fs	p.P278fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1027_1028	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	278		P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.833_834insGCCTGTCC	CCDS11118.1																																																																																				0.554	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		10	22	NaN	NaN	NaN	NaN	NaN	10	22	---	---
MBD1	4152	broad.mit.edu	37	18	47802039	47802039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:47802039delG	ENST00000591416.1	-	8	1154	c.723delC	c.(721-723)cccfs	p.P241fs	MBD1_ENST00000587605.1_Frame_Shift_Del_p.P241fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.P241fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.P241fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.P241fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.P241fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.P241fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.P192fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.P241fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.P241fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.P241fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.P241fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.P192fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.P241fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.P241fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.P241fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.P241fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.P267fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.P241fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.P241fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	241					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GAAGGCAGATGGGGCAATGGC	0.637																																						uc010dow.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(721-723)CCCfs		methyl-CpG binding domain protein 1 isoform 1							60.0	54.0	56.0					18																	47802039		2203	4300	6503	SO:0001589	frameshift_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47802039delG	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.723delC	18.37:g.47802039delG	ENSP00000467017:p.Pro241fs					MBD1_uc002lef.2_Frame_Shift_Del_p.P23fs|MBD1_uc002leg.2_Frame_Shift_Del_p.P192fs|MBD1_uc010xdi.1_Frame_Shift_Del_p.P267fs|MBD1_uc002leh.3_Frame_Shift_Del_p.P241fs|MBD1_uc002len.2_Frame_Shift_Del_p.P241fs|MBD1_uc002lei.3_Frame_Shift_Del_p.P241fs|MBD1_uc002lej.3_Frame_Shift_Del_p.P241fs|MBD1_uc002lek.3_Frame_Shift_Del_p.P192fs|MBD1_uc002lel.3_Frame_Shift_Del_p.P241fs|MBD1_uc002lem.3_Frame_Shift_Del_p.P241fs|MBD1_uc010xdj.1_Frame_Shift_Del_p.P241fs|MBD1_uc010xdk.1_Frame_Shift_Del_p.P241fs|MBD1_uc010dox.1_Frame_Shift_Del_p.P241fs|MBD1_uc002leo.2_Frame_Shift_Del_p.P241fs	p.P241fs	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			8	1160	-			241			CXXC-type 2.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Frame_Shift_Del	DEL	ENST00000591416.1	37	c.723delC	CCDS11943.1																																																																																				0.637	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3		NM_015846		8	48	NaN	NaN	NaN	NaN	NaN	8	48	---	---
CCDC138	165055	broad.mit.edu	37	2	109403310	109403310	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:109403310delA	ENST00000295124.4	+	1	92	c.32delA	c.(31-33)cagfs	p.Q11fs	CCDC138_ENST00000470608.1_Intron|CCDC138_ENST00000412964.2_Frame_Shift_Del_p.Q11fs	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	11										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CCACCGGGGCAGGATTTAGTA	0.667																																						uc002ten.1		NaN																	0					0						c.(31-33)CAGfs		coiled-coil domain containing 138							32.0	36.0	34.0					2																	109403310		2200	4299	6499	SO:0001589	frameshift_variant	165055							g.chr2:109403310delA	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.32delA	2.37:g.109403310delA	ENSP00000295124:p.Gln11fs					CCDC138_uc002teo.1_Frame_Shift_Del_p.Q11fs|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	p.Q11fs	NM_144978	NP_659415	Q96M89	CC138_HUMAN			1	92	+			11					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Frame_Shift_Del	DEL	ENST00000295124.4	37	c.32delA	CCDS2080.1																																																																																				0.667	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1		NM_144978		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					uc003bwm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(97-102)CAACCG>CAG		synapsin II isoform IIa																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC						SYN2_uc003bwl.1_In_Frame_Del_p.P40del	p.P40del	NM_133625	NP_598328	Q92777	SYN2_HUMAN			1	263_265	+			40					A8MY98	In_Frame_Del	DEL	ENST00000432424.2	37	c.99_101delAGC																																																																																					0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3		NM_133625		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
INPP4B	8821	broad.mit.edu	37	4	143003291	143003291	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:143003291delG	ENST00000513000.1	-	26	2968	c.2535delC	c.(2533-2535)gccfs	p.A845fs	INPP4B_ENST00000308502.4_Frame_Shift_Del_p.A845fs|INPP4B_ENST00000262992.4_Frame_Shift_Del_p.A845fs|INPP4B_ENST00000509777.1_Frame_Shift_Del_p.A845fs|INPP4B_ENST00000508116.1_Frame_Shift_Del_p.A845fs	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	845					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCCTGTCTTTGGCACTTTTAC	0.408																																						uc003iix.3		NaN																	0				ovary(1)|lung(1)	2						c.(2533-2535)GCCfs		inositol polyphosphate-4-phosphatase, type II,							161.0	140.0	147.0					4																	143003291		2203	4300	6503	SO:0001589	frameshift_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143003291delG	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2535delC	4.37:g.143003291delG	ENSP00000425487:p.Ala845fs					INPP4B_uc003iiw.3_Frame_Shift_Del_p.A845fs|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Frame_Shift_Del_p.A660fs|INPP4B_uc011cho.1_RNA	p.A845fs	NM_003866	NP_003857	O15327	INP4B_HUMAN			26	3130	-	all_hematologic(180;0.158)		845					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Frame_Shift_Del	DEL	ENST00000513000.1	37	c.2535delC	CCDS3757.1																																																																																				0.408	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1		NM_003866		26	53	NaN	NaN	NaN	NaN	NaN	26	53	---	---
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	IGR	INS	-	-	T	rs17875385		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:29694802_29694803insT	ENST00000376861.1	+	0	1544				HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000259951.7_Frame_Shift_Ins_p.F394fs			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535																																						uc003nno.3		NaN																	0					0						c.(1177-1182)TTGTTTfs		major histocompatibility complex, class I, F				16,3332		2,12,1660						-0.3	0.3		dbSNP_124	229	17,6555		4,9,3273	no	frameshift	HLA-F	NM_001098479.1		6,21,4933	A1A1,A1R,RR		0.2587,0.4779,0.3327				33,9887				SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694802_29694803insT	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694810_29694810dupT						HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	p.L393fs	NM_001098479	NP_001091949	P30511	HLAF_HUMAN			7	1303_1304	+			Error:Variant_position_missing_in_P30511_after_alignment					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Frame_Shift_Ins	INS	ENST00000376861.1	37	c.1179_1180insT	CCDS43438.1																																																																																				0.535	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1		NM_018950		7	330	NaN	NaN	NaN	NaN	NaN	7	330	---	---
