#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
VWA1	64856	broad.mit.edu	37	1	1374720	1374720	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:1374720G>T	ENST00000476993.1	+	3	969	c.891G>T	c.(889-891)ctG>ctT	p.L297L	VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_Silent_p.L85L	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	297	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614)				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCAGATCCTGCGGGTGCGCA	0.766																																						uc001afs.2		NaN																	0					0						c.(889-891)CTG>CTT		von Willebrand factor A domain containing 1							4.0	5.0	5.0					1																	1374720		1966	3948	5914	SO:0001819	synonymous_variant	64856					basement membrane		g.chr1:1374720G>T	BC059409	CCDS27.1, CCDS28.1, CCDS28.2	1p36.33	2013-02-11			ENSG00000179403	ENSG00000179403		"""Fibronectin type III domain containing"""	30910	protein-coding gene	gene with protein product		611901				14527666, 12062410	Standard	NM_022834		Approved	FLJ22215, VWA-1, WARP	uc001afs.3	Q6PCB0	OTTHUMG00000002975	ENST00000476993.1:c.891G>T	1.37:g.1374720G>T						VWA1_uc001afr.2_Silent_p.L85L	p.L297L	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	3	1111	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	297			Fibronectin type-III 1.		A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5	Silent	SNP	ENST00000476993.1	37	c.891G>T	CCDS27.1																																																																																				0.766	VWA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008291.1		NM_022834		3	0	1	0	0.004672	0.004672	0.00475046	3	0		
CLCNKA	1187	broad.mit.edu	37	1	16353844	16353844	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:16353844C>A	ENST00000331433.4	+	8	714	c.695C>A	c.(694-696)tCt>tAt	p.S232Y	CLCNKA_ENST00000375692.1_Missense_Mutation_p.S232Y|CLCNKA_ENST00000439316.2_Missense_Mutation_p.S189Y|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.S232Y			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	232					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCCACTTCTCTGTCCGGGAT	0.647																																						uc001axu.2		NaN																	0				ovary(1)	1						c.(694-696)TCT>TAT		chloride channel Ka isoform 1	Niflumic Acid(DB04552)						96.0	99.0	98.0					1																	16353844		2203	4300	6503	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16353844C>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.695C>A	1.37:g.16353844C>A	ENSP00000332771:p.Ser232Tyr					CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.S232Y|CLCNKA_uc010obw.1_Missense_Mutation_p.S189Y|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank	p.S232Y	NM_004070	NP_004061	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	8	775	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	232					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.695C>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268620	0.80469	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	3.02	3.02	0.34903	Chloride channel, core (2);	0.180853	0.47455	D	0.000223	D	0.95778	0.8626	M	0.64997	1.995	0.49798	D	0.99982	D;D;D	0.56521	0.976;0.976;0.976	P;P;P	0.62649	0.905;0.905;0.905	D	0.96041	0.9024	10	0.87932	D	0	.	13.4842	0.61355	0.0:1.0:0.0:0.0	.	189;232;232	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	Y	232;232;189;232	ENSP00000364844:S232Y;ENSP00000410353:S232Y;ENSP00000414445:S189Y;ENSP00000332771:S232Y	ENSP00000332771:S232Y	S	+	2	0	CLCNKA	16226431	1.000000	0.71417	0.972000	0.41901	0.963000	0.63663	7.417000	0.80156	1.674000	0.50907	0.313000	0.20887	TCT		0.647	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1				57	4	1	0	3.00167e-28	0.00361	3.47672e-28	57	4		
ECE1	1889	broad.mit.edu	37	1	21582529	21582529	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:21582529C>G	ENST00000374893.6	-	8	1005	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	ECE1_ENST00000264205.6_Missense_Mutation_p.E308Q|ECE1_ENST00000415912.2_Missense_Mutation_p.E295Q|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000436918.2_Missense_Mutation_p.E311Q|ECE1_ENST00000357071.4_Missense_Mutation_p.E299Q	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	311					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGTGCCGTCTCAAAGTCCAAG	0.602																																						uc001bek.2		NaN																	0				ovary(2)|skin(1)	3						c.(931-933)GAG>CAG		endothelin converting enzyme 1 isoform 1							137.0	110.0	119.0					1																	21582529		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21582529C>G	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.931G>C	1.37:g.21582529C>G	ENSP00000364028:p.Glu311Gln					ECE1_uc001bem.2_Missense_Mutation_p.E295Q|ECE1_uc001bej.2_Missense_Mutation_p.E299Q|ECE1_uc001bei.2_Missense_Mutation_p.E308Q|ECE1_uc010odl.1_Missense_Mutation_p.E311Q|ECE1_uc009vqa.1_Missense_Mutation_p.E311Q	p.E311Q	NM_001397	NP_001388	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	8	1006	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	311			Extracellular (Potential).		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.931G>C	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951593	0.92660	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.73	5.73	0.89815	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.93271	0.7856	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.995;0.999;0.999	D	0.93997	0.7272	10	0.87932	D	0	-44.4529	18.8402	0.92180	0.0:1.0:0.0:0.0	.	311;295;311;299;308	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	Q	295;299;311;311;308	ENSP00000405088:E295Q;ENSP00000349581:E299Q;ENSP00000364028:E311Q;ENSP00000388439:E311Q;ENSP00000264205:E308Q	ENSP00000264205:E308Q	E	-	1	0	ECE1	21455116	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.379000	0.79691	2.868000	0.98415	0.555000	0.69702	GAG		0.602	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2		NM_001397		36	8	0	0	0	0.010771	0	36	8		
NBPF3	84224	broad.mit.edu	37	1	21795335	21795335	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:21795335G>T	ENST00000318249.5	+	3	638	c.288G>T	c.(286-288)caG>caT	p.Q96H	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000342104.5_Missense_Mutation_p.Q96H|NBPF3_ENST00000318220.6_Missense_Mutation_p.Q40H	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	96						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACCTCAAACAGAAATGTCTTG	0.458											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ber.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(286-288)CAG>CAT		neuroblastoma breakpoint family, member 3							79.0	89.0	86.0					1																	21795335		2203	4300	6503	SO:0001583	missense	84224					cytoplasm		g.chr1:21795335G>T	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.288G>T	1.37:g.21795335G>T	ENSP00000316782:p.Gln96His		OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	751	NBPF3_uc001bes.2_Missense_Mutation_p.Q40H|NBPF3_uc009vqb.2_Missense_Mutation_p.Q96H|NBPF3_uc010odm.1_Intron	p.Q96H	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	638	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	96					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.288G>T	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	7.060	0.566124	0.13560	.	.	ENSG00000142794	ENST00000318220;ENST00000318249;ENST00000417552;ENST00000342104;ENST00000434838	T;T;T;T	0.02812	4.16;4.15;4.15;4.16	1.15	1.15	0.20763	.	.	.	.	.	T	0.03564	0.0102	N	0.22421	0.69	0.09310	N	1	D;B	0.67145	0.996;0.054	P;B	0.51324	0.666;0.004	T	0.47586	-0.9106	9	0.87932	D	0	.	5.7389	0.18081	0.0:0.0:1.0:0.0	.	96;96	Q9H094-3;Q9H094	.;NBPF3_HUMAN	H	40;96;40;96;40	ENSP00000316739:Q40H;ENSP00000316782:Q96H;ENSP00000340336:Q96H;ENSP00000391865:Q40H	ENSP00000316739:Q40H	Q	+	3	2	NBPF3	21667922	0.022000	0.18835	0.041000	0.18516	0.010000	0.07245	0.814000	0.27239	0.943000	0.37553	0.454000	0.30748	CAG		0.458	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_032264		16	0	1	0	3.5997e-14	0.002299	3.9692e-14	16	0		
NBPF3	84224	broad.mit.edu	37	1	21795351	21795351	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:21795351C>G	ENST00000318249.5	+	3	654	c.304C>G	c.(304-306)Caa>Gaa	p.Q102E	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000342104.5_Missense_Mutation_p.Q102E|NBPF3_ENST00000318220.6_Missense_Mutation_p.Q46E	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	102						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTTGTAACTCAAGTGGCCTA	0.453											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ber.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(304-306)CAA>GAA		neuroblastoma breakpoint family, member 3							72.0	80.0	77.0					1																	21795351		2203	4300	6503	SO:0001583	missense	84224					cytoplasm		g.chr1:21795351C>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.304C>G	1.37:g.21795351C>G	ENSP00000316782:p.Gln102Glu		OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	751	NBPF3_uc001bes.2_Missense_Mutation_p.Q46E|NBPF3_uc009vqb.2_Missense_Mutation_p.Q102E|NBPF3_uc010odm.1_Intron	p.Q102E	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	654	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	102					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.304C>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	1.431	-0.570186	0.03910	.	.	ENSG00000142794	ENST00000318220;ENST00000318249;ENST00000417552;ENST00000342104;ENST00000434838	T;T;T;T	0.02890	4.12;4.18;4.19;4.12	1.08	0.00533	0.14062	.	.	.	.	.	T	0.06234	0.0161	L	0.37800	1.135	0.09310	N	1	D;B	0.63880	0.993;0.274	D;B	0.75020	0.985;0.056	T	0.40813	-0.9543	9	0.32370	T	0.25	.	4.8486	0.13526	0.0:0.6029:0.3971:0.0	.	102;102	Q9H094-3;Q9H094	.;NBPF3_HUMAN	E	46;102;46;102;46	ENSP00000316739:Q46E;ENSP00000316782:Q102E;ENSP00000340336:Q102E;ENSP00000391865:Q46E	ENSP00000316739:Q46E	Q	+	1	0	NBPF3	21667938	0.003000	0.15002	0.002000	0.10522	0.006000	0.05464	-0.135000	0.10420	0.006000	0.14734	0.398000	0.26397	CAA		0.453	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_032264		10	0	0	0	0	0.003163	0	10	0		
FGR	2268	broad.mit.edu	37	1	27949568	27949568	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:27949568T>C	ENST00000374005.3	-	4	602	c.314A>G	c.(313-315)cAc>cGc	p.H105R	FGR_ENST00000374004.1_Missense_Mutation_p.H105R|FGR_ENST00000468038.1_5'Flank|FGR_ENST00000399173.1_Missense_Mutation_p.H105R|FGR_ENST00000545953.1_Missense_Mutation_p.H105R	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	105	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTTCAGGATGTGGAACTTCTC	0.552																																						uc001boj.2		NaN																	0				skin(2)	2						c.(313-315)CAC>CGC		proto-oncogene tyrosine-protein kinase FGR							208.0	143.0	165.0					1																	27949568		2203	4300	6503	SO:0001583	missense	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27949568T>C	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.314A>G	1.37:g.27949568T>C	ENSP00000363117:p.His105Arg					FGR_uc001bok.2_Missense_Mutation_p.H105R|FGR_uc001bol.2_Missense_Mutation_p.H105R|FGR_uc001bom.2_Missense_Mutation_p.H105R	p.H105R	NM_005248	NP_005239	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	2	460	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	105			SH3.		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	c.314A>G	CCDS305.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159258	0.78226	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	T;T;T;T;T;T	0.49139	0.79;2.35;0.79;0.79;0.79;0.79	5.41	5.41	0.78517	Src homology-3 domain (5);	0.000000	0.56097	D	0.000021	T	0.22244	0.0536	N	0.01679	-0.765	0.34880	D	0.744522	B	0.06786	0.001	B	0.06405	0.002	T	0.23547	-1.0185	10	0.29301	T	0.29	.	13.7002	0.62604	0.0:0.0:0.0:1.0	.	105	P09769	FGR_HUMAN	R	105	ENSP00000363117:H105R;ENSP00000445302:H105R;ENSP00000382126:H105R;ENSP00000363116:H105R;ENSP00000363115:H105R;ENSP00000407670:H105R	ENSP00000363115:H105R	H	-	2	0	FGR	27822155	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.275000	0.72594	2.173000	0.68751	0.528000	0.53228	CAC		0.552	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1		NM_005248		38	0	0	0	0	0.00361	0	38	0		
CSMD2	114784	broad.mit.edu	37	1	34083156	34083156	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:34083156C>A	ENST00000373380.1	-	17	2728	c.2508G>T	c.(2506-2508)gaG>gaT	p.E836D	CSMD2_ENST00000373388.2_Missense_Mutation_p.E62D|CSMD2_ENST00000373377.1_Missense_Mutation_p.E62D|CSMD2_ENST00000373381.4_Missense_Mutation_p.E1963D			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1923	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAAGTAGCGCTCGCCAGTCT	0.567																																						uc001bxn.1		NaN																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(5767-5769)GAG>GAT		CUB and Sushi multiple domains 2							112.0	85.0	94.0					1																	34083156		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34083156C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2508G>T	1.37:g.34083156C>A	ENSP00000362478:p.Glu836Asp					CSMD2_uc001bxm.1_Missense_Mutation_p.E1963D|CSMD2_uc001bxo.1_Missense_Mutation_p.E836D	p.E1923D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			38	5798	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1923			Sushi 11.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.5769G>T		.	.	.	.	.	.	.	.	.	.	C	5.483	0.274135	0.10403	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.67	0.579	0.17397	Complement control module (2);Sushi/SCR/CCP (3);	0.057869	0.64402	D	0.000002	T	0.49218	0.1544	N	0.10945	0.07	0.48185	D	0.999607	D;B;B	0.65815	0.995;0.083;0.083	D;B;B	0.81914	0.995;0.086;0.086	T	0.56547	-0.7961	10	0.02654	T	1	.	5.4689	0.16658	0.129:0.5863:0.0:0.2847	.	836;1923;1963	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	D	1963;836;62;62	ENSP00000362479:E1963D;ENSP00000362478:E836D;ENSP00000362475:E62D;ENSP00000362486:E62D	ENSP00000241312:E1923D	E	-	3	2	CSMD2	33855743	0.992000	0.36948	0.958000	0.39756	0.979000	0.70002	0.386000	0.20702	-0.132000	0.11557	-0.136000	0.14681	GAG		0.567	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4		NM_052896		30	1	1	0	4.3181e-19	0.002836	4.9076e-19	30	1		
THRAP3	9967	broad.mit.edu	37	1	36769407	36769407	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:36769407G>A	ENST00000354618.5	+	12	2881	c.2657G>A	c.(2656-2658)cGt>cAt	p.R886H	SH3D21_ENST00000426732.2_5'Flank|THRAP3_ENST00000469141.2_Missense_Mutation_p.R886H|SH3D21_ENST00000453908.2_5'Flank	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	886	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CATGATGACCGTGAAGGCGAA	0.587			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	uc001cae.3		NaN		Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				ovary(5)|lung(3)|breast(1)	9						c.(2656-2658)CGT>CAT		thyroid hormone receptor associated protein 3							56.0	64.0	62.0					1																	36769407		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36769407G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2657G>A	1.37:g.36769407G>A	ENSP00000346634:p.Arg886His					THRAP3_uc001caf.3_Missense_Mutation_p.R886H|C1orf113_uc010oia.1_5'Flank	p.R886H	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN			12	2881	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	886					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.2657G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258938	0.80246	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.20738	2.05;2.05	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000011	T	0.44540	0.1298	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.44832	-0.9302	10	0.87932	D	0	-3.2969	16.8792	0.86059	0.0:0.0:1.0:0.0	.	886	Q9Y2W1	TR150_HUMAN	H	886	ENSP00000346634:R886H;ENSP00000433825:R886H	ENSP00000346634:R886H	R	+	2	0	THRAP3	36541994	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	9.134000	0.94467	2.304000	0.77564	0.563000	0.77884	CGT		0.587	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2		NM_005119		68	8	0	0	0	0.00361	0	68	8		
MACF1	23499	broad.mit.edu	37	1	39800781	39800781	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:39800781G>T	ENST00000372915.3	+	36	8623	c.8536G>T	c.(8536-8538)Gaa>Taa	p.E2846*	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E2878*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.E2841*|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E1281*|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2846					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGAGCAGGGAAATTTCCTT	0.363																																						uc010oiu.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(3841-3843)GAA>TAA		microfilament and actin filament cross-linker							50.0	55.0	54.0					1																	39800781		2201	4298	6499	SO:0001587	stop_gained	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39800781G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8536G>T	1.37:g.39800781G>T	ENSP00000362006:p.Glu2846*					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.E1281*	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	3972	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2846					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	ENST00000372915.3	37	c.3841G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.346189	0.97494	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	.	.	.	5.64	-0.449	0.12226	.	0.883493	0.09730	N	0.763245	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	8.8112	0.34967	0.516:0.0:0.484:0.0	.	.	.	.	X	2846;1281	.	ENSP00000289893:E1281X	E	+	1	0	MACF1	39573368	0.000000	0.05858	0.002000	0.10522	0.116000	0.19942	-0.016000	0.12613	-0.078000	0.12730	-0.194000	0.12790	GAA		0.363	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		16	3	1	0	1.33834e-09	0.007413	1.42385e-09	16	3		
NT5C1A	84618	broad.mit.edu	37	1	40131301	40131301	+	Missense_Mutation	SNP	G	G	A	rs557786217		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:40131301G>A	ENST00000235628.1	-	3	324	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	109					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCCCGCAGCCGCCTGTTCACG	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18842	0.0		0.0	False		,,,				2504	0.0					uc001cdq.1		NaN																	0				ovary(1)	1						c.(325-327)CGG>TGG		5'-nucleotidase, cytosolic IA							66.0	63.0	64.0					1																	40131301		2203	4300	6503	SO:0001583	missense	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40131301G>A	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.325C>T	1.37:g.40131301G>A	ENSP00000235628:p.Arg109Trp						p.R109W	NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	325	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	109					Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	c.325C>T	CCDS440.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123797	0.77436	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.27	-0.214	0.13161	.	0.483432	0.23561	N	0.046844	T	0.65101	0.2659	M	0.85859	2.78	0.23221	N	0.998091	D	0.76494	0.999	D	0.67900	0.954	T	0.58470	-0.7631	9	0.54805	T	0.06	-2.9491	10.0173	0.42022	0.0636:0.0:0.4346:0.5018	.	109	Q9BXI3	5NT1A_HUMAN	W	109	.	ENSP00000235628:R109W	R	-	1	2	NT5C1A	39903888	0.893000	0.30496	0.016000	0.15963	0.988000	0.76386	2.852000	0.48310	-0.224000	0.09928	0.655000	0.94253	CGG		0.562	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1		NM_032526		27	1	0	0	0	0.003271	0	27	1		
RNF11	26994	broad.mit.edu	37	1	51702486	51702486	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:51702486C>G	ENST00000242719.3	+	1	544	c.58C>G	c.(58-60)Cag>Gag	p.Q20E	RP11-296A18.3_ENST00000366181.2_lincRNA|RNF11_ENST00000494873.1_3'UTR	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	20					protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		large_intestine(1)	1						TCACGAGTCTCAGTCCGACCG	0.637																																						uc001csi.3		NaN																	2	Whole gene deletion(2)		thyroid(1)|central_nervous_system(1)		0						c.(58-60)CAG>GAG		ring finger protein 11							47.0	40.0	42.0					1																	51702486		2203	4300	6503	SO:0001583	missense	26994				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	g.chr1:51702486C>G	AB024703	CCDS556.1	1p32	2013-01-09			ENSG00000123091	ENSG00000123091		"""RING-type (C3HC4) zinc fingers"""	10056	protein-coding gene	gene with protein product		612598				10673045, 10810093	Standard	NM_014372		Approved	CGI-123, Sid1669p, MGC51169	uc001csi.4	Q9Y3C5	OTTHUMG00000008190	ENST00000242719.3:c.58C>G	1.37:g.51702486C>G	ENSP00000242719:p.Gln20Glu						p.Q20E	NM_014372	NP_055187	Q9Y3C5	RNF11_HUMAN			1	542	+			20					A8KAI2|Q5T7R8	Missense_Mutation	SNP	ENST00000242719.3	37	c.58C>G	CCDS556.1	.	.	.	.	.	.	.	.	.	.	C	9.363	1.068570	0.20067	.	.	ENSG00000123091	ENST00000242719	T	0.15834	2.39	4.38	4.38	0.52667	.	0.059229	0.64402	D	0.000001	T	0.10637	0.0260	N	0.17800	0.525	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06162	-1.0842	10	0.02654	T	1	-2.4705	17.0599	0.86544	0.0:1.0:0.0:0.0	.	20	Q9Y3C5	RNF11_HUMAN	E	20	ENSP00000242719:Q20E	ENSP00000242719:Q20E	Q	+	1	0	RNF11	51475074	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.254000	0.72460	2.435000	0.82474	0.555000	0.69702	CAG		0.637	RNF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022419.1		NM_014372		33	2	0	0	0	0.004878	0	33	2		
MRPL37	51253	broad.mit.edu	37	1	54670971	54670971	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:54670971G>A	ENST00000360840.5	+	3	611	c.534G>A	c.(532-534)ccG>ccA	p.P178P	MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000336230.6_Intron|MRPL37_ENST00000605337.1_Silent_p.P178P	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	178					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CTTCAAGCCCGGTCATCGTGG	0.448																																						uc001cxa.3		NaN																	0					0						c.(532-534)CCG>CCA		mitochondrial ribosomal protein L37 precursor							148.0	135.0	140.0					1																	54670971		2203	4300	6503	SO:0001819	synonymous_variant	51253				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:54670971G>A	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.534G>A	1.37:g.54670971G>A						MRPL37_uc009vzp.2_Intron|MRPL37_uc001cxb.1_Silent_p.P178P|MRPL37_uc001cxc.3_5'UTR|MRPL37_uc010oob.1_RNA	p.P178P	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN			3	611	+			178					Q96Q67|Q9BWR1|Q9P0P3	Silent	SNP	ENST00000360840.5	37	c.534G>A	CCDS589.1																																																																																				0.448	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1		NM_016491		16	3	0	0	0	0.00499	0	16	3		
ERICH3	127254	broad.mit.edu	37	1	75039034	75039034	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:75039034T>A	ENST00000326665.5	-	14	2578	c.2360A>T	c.(2359-2361)gAc>gTc	p.D787V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		787	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGTACTATGTCAGCATCTCT	0.517																																						uc001dgg.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2359-2361)GAC>GTC		hypothetical protein LOC127254							106.0	106.0	106.0					1																	75039034		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75039034T>A																												ENST00000326665.5:c.2360A>T	1.37:g.75039034T>A	ENSP00000322609:p.Asp787Val						p.D787V	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	2579	-			787			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2360A>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.836210	0.50951	.	.	ENSG00000178965	ENST00000326665	T	0.16743	2.32	5.54	1.78	0.24846	.	.	.	.	.	T	0.07954	0.0199	L	0.36672	1.1	0.24435	N	0.99455	D	0.59767	0.986	P	0.52159	0.691	T	0.21759	-1.0236	9	0.28530	T	0.3	-7.8998	7.5619	0.27855	0.0:0.0728:0.287:0.6403	.	787	Q5RHP9	CA173_HUMAN	V	787	ENSP00000322609:D787V	ENSP00000322609:D787V	D	-	2	0	C1orf173	74811622	0.000000	0.05858	0.043000	0.18650	0.003000	0.03518	0.118000	0.15605	0.399000	0.25367	-0.396000	0.06452	GAC		0.517	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1				60	2	0	0	0	0.00361	0	60	2		
LRRC8D	55144	broad.mit.edu	37	1	90398656	90398656	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:90398656T>A	ENST00000337338.5	+	3	436	c.29T>A	c.(28-30)cTt>cAt	p.L10H	LRRC8D_ENST00000394593.3_Missense_Mutation_p.L10H|RP11-302M6.4_ENST00000370453.5_3'UTR	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	10					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTTGCATCACTTAATGACATT	0.378																																						uc001dnm.2		NaN																	0				ovary(2)	2						c.(28-30)CTT>CAT		leucine rich repeat containing 8 family, member							159.0	139.0	146.0					1																	90398656		2203	4300	6503	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90398656T>A	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.29T>A	1.37:g.90398656T>A	ENSP00000338887:p.Leu10His					LRRC8D_uc001dnn.2_Missense_Mutation_p.L10H	p.L10H	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	454	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	10					D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.29T>A	CCDS726.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.789792	0.90367	.	.	ENSG00000171492	ENST00000525774;ENST00000337338;ENST00000394593;ENST00000532201;ENST00000414841;ENST00000527156;ENST00000441269	T;T;T	0.53206	1.22;1.22;0.63	6.07	6.07	0.98685	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.57169	0.2035	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.61535	-0.7043	10	0.87932	D	0	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	10	Q7L1W4	LRC8D_HUMAN	H	10	ENSP00000338887:L10H;ENSP00000378093:L10H;ENSP00000405784:L10H	ENSP00000338887:L10H	L	+	2	0	LRRC8D	90171244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	CTT		0.378	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2		NM_018103		5	46	0	0	0	0.004482	0	5	46		
ZNF644	84146	broad.mit.edu	37	1	91404364	91404364	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:91404364C>G	ENST00000370440.1	-	3	2764	c.2547G>C	c.(2545-2547)aaG>aaC	p.K849N	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.K849N|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	849					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AACTATCTTTCTTTTCAGCAG	0.358																																						uc001dnw.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(2545-2547)AAG>AAC		zinc finger protein 644 isoform 1							73.0	76.0	75.0					1																	91404364		2203	4298	6501	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91404364C>G	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.2547G>C	1.37:g.91404364C>G	ENSP00000359469:p.Lys849Asn					ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.K849N	p.K849N	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	2689	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	849					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.2547G>C	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373644	0.24857	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.55234	0.53;0.53	5.7	3.5	0.40072	.	0.232242	0.40222	N	0.001158	T	0.24699	0.0599	L	0.32530	0.975	0.35257	D	0.779265	P	0.43094	0.799	B	0.40901	0.343	T	0.19745	-1.0296	10	0.87932	D	0	-9.7749	6.5022	0.22176	0.0:0.6367:0.0:0.3633	.	849	Q9H582	ZN644_HUMAN	N	849;849;421	ENSP00000359469:K849N;ENSP00000337008:K849N	ENSP00000337008:K849N	K	-	3	2	ZNF644	91176952	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.146000	0.31589	1.408000	0.46895	0.591000	0.81541	AAG		0.358	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2		NM_032186		10	3	0	0	0	0.001368	0	10	3		
HFM1	164045	broad.mit.edu	37	1	91784664	91784664	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:91784664A>G	ENST00000370425.3	-	25	2881	c.2783T>C	c.(2782-2784)cTg>cCg	p.L928P	HFM1_ENST00000370424.3_Missense_Mutation_p.L607P|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.L160P	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	928	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GGATACATGCAGAGAGTTTTC	0.338																																						uc001doa.3		NaN																	0					0						c.(2782-2784)CTG>CCG		HFM1 protein							76.0	78.0	77.0					1																	91784664		2203	4300	6503	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91784664A>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2783T>C	1.37:g.91784664A>G	ENSP00000359454:p.Leu928Pro					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.L607P|HFM1_uc001dob.3_Intron|HFM1_uc010osv.1_Missense_Mutation_p.L612P	p.L928P	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	25	2883	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	928			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.2783T>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	0.083	-1.180335	0.01633	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	T;T;T	0.58652	0.32;0.32;0.32	5.14	-0.334	0.12666	Sec63 domain (2);	0.610289	0.14475	U	0.317327	T	0.09949	0.0244	N	0.03177	-0.4	0.22819	N	0.998698	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30851	-0.9964	10	0.30078	T	0.28	.	3.9782	0.09484	0.4645:0.0:0.1414:0.394	.	607;928	A6NGI5;A2PYH4	.;HFM1_HUMAN	P	928;160;607;612	ENSP00000359454:L928P;ENSP00000294696:L160P;ENSP00000359453:L607P	ENSP00000294696:L160P	L	-	2	0	HFM1	91557252	0.944000	0.32072	0.511000	0.27724	0.987000	0.75469	1.783000	0.38664	-0.251000	0.09542	-0.309000	0.09137	CTG		0.338	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2		NM_001017975		20	5	0	0	0	0.007291	0	20	5		
NTNG1	22854	broad.mit.edu	37	1	107979293	107979293	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:107979293A>T	ENST00000370068.1	+	7	2108	c.1262A>T	c.(1261-1263)tAt>tTt	p.Y421F	NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.Y421F|NTNG1_ENST00000542803.1_Missense_Mutation_p.Y421F|NTNG1_ENST00000370061.3_Missense_Mutation_p.Y387F|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370072.3_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	421	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACAGAGTGTTATTGTAACCCT	0.453																																						uc001dvh.3		NaN																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(1261-1263)TAT>TTT		netrin G1 isoform 1							141.0	120.0	126.0					1																	107979293		1568	3582	5150	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107979293A>T	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1262A>T	1.37:g.107979293A>T	ENSP00000359085:p.Tyr421Phe					NTNG1_uc001dvf.3_Intron|NTNG1_uc010out.1_Missense_Mutation_p.Y387F|NTNG1_uc001dvc.3_Intron|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_Intron|NTNG1_uc009wem.2_Intron	p.Y421F	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	7	1980	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	421			Laminin EGF-like 3.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.1262A>T	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.706926	0.30232	.	.	ENSG00000162631	ENST00000370073;ENST00000542803;ENST00000370061;ENST00000370064;ENST00000370062;ENST00000370068	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	6.17	3.58	0.41010	EGF-like, laminin (3);	0.114436	0.39407	N	0.001379	T	0.25865	0.0630	N	0.19112	0.55	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.004	T	0.11372	-1.0590	10	0.46703	T	0.11	.	12.5746	0.56357	0.7669:0.0:0.0:0.2331	.	387;421	B4DKF0;Q9Y2I2	.;NTNG1_HUMAN	F	421;421;387;224;168;421	ENSP00000359090:Y421F;ENSP00000440561:Y421F;ENSP00000359078:Y387F;ENSP00000359085:Y421F	ENSP00000359078:Y387F	Y	+	2	0	NTNG1	107780816	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.828000	0.69307	1.105000	0.41606	0.533000	0.62120	TAT		0.453	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1		NM_014917		15	18	0	0	0	0.008871	0	15	18		
PTPN22	26191	broad.mit.edu	37	1	114380599	114380599	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:114380599G>C	ENST00000359785.5	-	13	1558	c.1423C>G	c.(1423-1425)Caa>Gaa	p.Q475E	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.Q420E|PTPN22_ENST00000525799.1_Missense_Mutation_p.Q348E|PTPN22_ENST00000420377.2_Missense_Mutation_p.Q475E|PTPN22_ENST00000538253.1_Missense_Mutation_p.Q231E	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	475					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCATGTGGTTGAGATTCCAAA	0.393																																						uc001eds.2		NaN																	0				kidney(2)|lung(1)|skin(1)	4						c.(1423-1425)CAA>GAA		protein tyrosine phosphatase, non-receptor type							110.0	105.0	107.0					1																	114380599		2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114380599G>C	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1423C>G	1.37:g.114380599G>C	ENSP00000352833:p.Gln475Glu					PTPN22_uc009wgq.2_Missense_Mutation_p.Q420E|PTPN22_uc010owo.1_Missense_Mutation_p.Q231E|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.Q475E|PTPN22_uc009wgs.2_Missense_Mutation_p.Q348E|PTPN22_uc001edu.2_Missense_Mutation_p.Q475E	p.Q475E	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	1553	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	475					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.1423C>G	CCDS863.1	.	.	.	.	.	.	.	.	.	.	G	3.313	-0.140404	0.06669	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.82	4.91	0.64330	.	0.427611	0.22467	N	0.059673	T	0.40372	0.1114	M	0.73598	2.24	0.09310	N	1	B;B;B;B;B;B	0.29037	0.018;0.074;0.01;0.231;0.018;0.004	B;B;B;B;B;B	0.25140	0.019;0.025;0.008;0.058;0.019;0.011	T	0.31392	-0.9945	10	0.31617	T	0.26	.	15.8482	0.78907	0.0:0.1379:0.8621:0.0	.	231;348;475;420;475;475	F5H2S8;E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	E	475;420;231;475;348;475	ENSP00000352833:Q475E;ENSP00000435176:Q420E;ENSP00000439372:Q231E;ENSP00000388229:Q475E;ENSP00000432674:Q348E	ENSP00000346621:Q475E	Q	-	1	0	PTPN22	114182122	0.394000	0.25246	0.121000	0.21740	0.100000	0.18952	2.476000	0.45171	0.816000	0.34421	-0.795000	0.03280	CAA		0.393	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1		NM_015967		34	2	0	0	0	0.00874	0	34	2		
PDE4DIP	9659	broad.mit.edu	37	1	144864173	144864173	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:144864173G>A	ENST00000369354.3	-	36	6111	c.5922C>T	c.(5920-5922)ttC>ttT	p.F1974F	PDE4DIP_ENST00000313382.9_Silent_p.F1868F|PDE4DIP_ENST00000369359.4_Silent_p.F2110F|PDE4DIP_ENST00000369356.4_Silent_p.F1974F|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.F2059F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1974					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTCCTCCCTGAAATGCAAGA	0.488			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(5920-5922)TTC>TTT		phosphodiesterase 4D interacting protein isoform							280.0	300.0	293.0					1																	144864173		2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144864173G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5922C>T	1.37:g.144864173G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.F1868F|PDE4DIP_uc001elv.3_Silent_p.F981F|PDE4DIP_uc001ema.2_Silent_p.F161F	p.F1974F	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	36	6213	-			1974			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.5922C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	9.005	0.981017	0.18812	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	T	0.47340	0.1440	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46176	-0.9210	4	.	.	.	.	8.6127	0.33813	0.103:0.0:0.897:0.0	.	.	.	.	L	131	.	.	S	-	2	0	PDE4DIP	143575530	0.956000	0.32656	0.995000	0.50966	0.890000	0.51754	0.565000	0.23578	2.499000	0.84300	0.555000	0.69702	TCA		0.488	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		8	321	0	0	0	0.006214	0	8	321		
PDE4DIP	9659	broad.mit.edu	37	1	144877097	144877097	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:144877097G>A	ENST00000369354.3	-	28	4779	c.4590C>T	c.(4588-4590)ttC>ttT	p.F1530F	PDE4DIP_ENST00000313382.9_Silent_p.F1486F|PDE4DIP_ENST00000369359.4_Silent_p.F1666F|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.F1530F|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.F1666F|AL138796.1_ENST00000582173.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1530					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTGCTCCCGGAAGCTCTGTC	0.493			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(4588-4590)TTC>TTT		phosphodiesterase 4D interacting protein isoform							41.0	41.0	41.0					1																	144877097		2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144877097G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4590C>T	1.37:g.144877097G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.F1486F|PDE4DIP_uc001elv.3_Silent_p.F537F	p.F1530F	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	28	4881	-			1530					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.4590C>T	CCDS30824.1																																																																																				0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		10	13	0	0	0	0.010729	0	10	13		
NBPF12	149013	broad.mit.edu	37	1	146399628	146399628	+	Splice_Site	SNP	G	G	T	rs587635781		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:146399628G>T	ENST00000442909.2	+	8	1402		c.e8+1		NBPF12_ENST00000309471.8_Splice_Site|NBPF12_ENST00000446760.2_Splice_Site			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12							cytoplasm (GO:0005737)				ovary(2)	2						CTGCCCCCAGGTAACACTGAA	0.418													.|||	1	0.000199681	0.0008	0.0	5008	,	,		31205	0.0		0.0	False		,,,				2504	0.0					uc001emp.3		NaN																	0					0						c.e14+1		hypothetical protein LOC55672																																				SO:0001630	splice_region_variant	100132406							g.chr1:146399628G>T	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.566+1G>T	1.37:g.146399628G>T						uc010ozk.1_Splice_Site	p.R460_splice	NM_017940	NP_060410	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	14	2577	+	all_hematologic(923;0.032)							O95877	Splice_Site	SNP	ENST00000442909.2	37	c.1379_splice		.	.	.	.	.	.	.	.	.	.	N	3.080	-0.189275	0.06299	.	.	ENSG00000186275	ENST00000446760;ENST00000442909;ENST00000309471	.	.	.	0.949	0.949	0.19566	.	.	.	.	.	.	.	.	.	.	.	0.29298	N	0.868889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6363	0.17538	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NBPF12	144764582	0.289000	0.24334	0.140000	0.22221	0.030000	0.12068	1.281000	0.33214	0.911000	0.36747	0.361000	0.22055	.		0.418	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3		XM_003119146	Intron	40	485	1	0	2.79145e-41	0.00361	3.29629e-41	40	485		
TARS2	80222	broad.mit.edu	37	1	150478109	150478109	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:150478109G>C	ENST00000369064.3	+	17	1970	c.1936G>C	c.(1936-1938)Gat>Cat	p.D646H	TARS2_ENST00000369054.2_Missense_Mutation_p.D516H|TARS2_ENST00000606933.1_Missense_Mutation_p.D564H|ECM1_ENST00000369047.4_5'Flank|ECM1_ENST00000346569.6_5'Flank|ECM1_ENST00000369049.4_5'Flank	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	646					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGTGACCTGGATGCAGACTC	0.532																																						uc001euq.2		NaN																	0				ovary(1)	1						c.(1936-1938)GAT>CAT		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						91.0	92.0	91.0					1																	150478109		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150478109G>C	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1936G>C	1.37:g.150478109G>C	ENSP00000358060:p.Asp646His					TARS2_uc001eur.2_Missense_Mutation_p.D564H|TARS2_uc009wlt.2_Missense_Mutation_p.D272H|TARS2_uc009wls.2_Missense_Mutation_p.D516H|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank	p.D646H	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		17	1943	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		646					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.1936G>C	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663067	0.47572	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	D;D;D	0.86956	-2.19;-2.19;-2.19	4.53	4.53	0.55603	Anticodon-binding (3);	0.059390	0.64402	D	0.000003	D	0.95010	0.8385	H	0.95328	3.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.995	D	0.96313	0.9230	10	0.87932	D	0	-1.2911	16.0149	0.80430	0.0:0.0:1.0:0.0	.	516;371;646	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	H	516;646;371;371	ENSP00000358050:D516H;ENSP00000358060:D646H;ENSP00000358047:D371H	ENSP00000358047:D371H	D	+	1	0	TARS2	148744733	1.000000	0.71417	0.931000	0.37212	0.097000	0.18754	6.352000	0.73027	2.355000	0.79922	0.655000	0.94253	GAT		0.532	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1		NM_025150		40	185	0	0	0	0.00361	0	40	185		
PRUNE	58497	broad.mit.edu	37	1	151006538	151006538	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:151006538G>A	ENST00000271620.3	+	8	1346	c.1190G>A	c.(1189-1191)gGc>gAc	p.G397D	PRUNE_ENST00000368934.1_Missense_Mutation_p.G162D|BNIPL_ENST00000295294.7_5'Flank|BNIPL_ENST00000368931.3_5'Flank|PRUNE_ENST00000368936.1_Missense_Mutation_p.G215D|PRUNE_ENST00000368935.1_Missense_Mutation_p.G112D|PRUNE_ENST00000368937.1_Missense_Mutation_p.G162D|PRUNE_ENST00000271619.8_Missense_Mutation_p.G185D	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	397	Essential for homodimerization.		G -> R (in dbSNP:rs3738477).|G -> S (in dbSNP:rs3738477).			cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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;0.211)			CTGATTTCTGGCCTGAGTCAA	0.562																																						uc001ewh.1		NaN																	0				ovary(1)	1						c.(1189-1191)GGA>GAA		prune							101.0	89.0	93.0					1																	151006538		2203	4300	6503	SO:0001583	missense	58497					cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding	g.chr1:151006538G>A	U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"""prune homolog (Drosophila)"""			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.1190G>A	1.37:g.151006538G>A	ENSP00000271620:p.Gly397Asp					PRUNE_uc001ewi.1_Missense_Mutation_p.G215D|PRUNE_uc010pco.1_Missense_Mutation_p.G165D|PRUNE_uc001ewj.1_Missense_Mutation_p.G112D|PRUNE_uc001ewk.1_Missense_Mutation_p.G162D|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank	p.G397E	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	1326	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		397			Essential for homodimerization.		B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Missense_Mutation	SNP	ENST00000271620.3	37	c.1190G>A	CCDS977.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962369	0.34659	.	.	ENSG00000143363	ENST00000271620;ENST00000302413;ENST00000271619;ENST00000368937;ENST00000431193;ENST00000368936;ENST00000368935;ENST00000368934	T;T;T;T;T;T;T	0.32272	1.55;1.48;1.47;1.46;1.51;1.51;1.47	5.35	2.4	0.29515	.	0.320819	0.27323	N	0.019899	T	0.05044	0.0135	N	0.14661	0.345	0.09310	N	0.99999	B;B	0.31680	0.335;0.125	B;B	0.30495	0.116;0.048	T	0.30475	-0.9977	9	.	.	.	.	5.4955	0.16799	0.1458:0.3607:0.4935:0.0	.	185;397	E9PCU1;Q86TP1	.;PRUNE_HUMAN	D	397;330;185;162;162;215;112;162	ENSP00000271620:G397D;ENSP00000271619:G185D;ENSP00000357933:G162D;ENSP00000392632:G162D;ENSP00000357932:G215D;ENSP00000357931:G112D;ENSP00000357930:G162D	.	G	+	2	0	PRUNE	149273162	0.027000	0.19231	0.344000	0.25628	0.854000	0.48673	0.341000	0.19909	0.902000	0.36520	0.655000	0.94253	GGC		0.562	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084885.1		NM_021222		18	102	0	0	0	0.002299	0	18	102		
FLG2	388698	broad.mit.edu	37	1	152328035	152328035	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:152328035A>C	ENST00000388718.5	-	3	2299	c.2227T>G	c.(2227-2229)Tct>Gct	p.S743A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	743	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAAAGCCAGAGGACTGACCT	0.507																																						uc001ezw.3		NaN																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2227-2229)TCT>GCT		filaggrin family member 2							292.0	285.0	288.0					1																	152328035		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328035A>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2227T>G	1.37:g.152328035A>C	ENSP00000373370:p.Ser743Ala					uc001ezv.2_Intron	p.S743A	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2300	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		743			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2227T>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	9.348	1.064785	0.20067	.	.	ENSG00000143520	ENST00000388718	T	0.22134	1.97	4.64	4.64	0.57946	.	.	.	.	.	T	0.20251	0.0487	M	0.69185	2.1	0.26074	N	0.981184	D	0.61080	0.989	P	0.57679	0.825	T	0.08932	-1.0698	9	0.14252	T	0.57	-0.8615	12.053	0.53518	1.0:0.0:0.0:0.0	.	743	Q5D862	FILA2_HUMAN	A	743	ENSP00000373370:S743A	ENSP00000373370:S743A	S	-	1	0	FLG2	150594659	0.002000	0.14202	0.081000	0.20488	0.509000	0.34042	1.013000	0.29937	1.959000	0.56917	0.496000	0.49642	TCT		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		11	621	0	0	0	0.008291	0	11	621		
CRTC2	200186	broad.mit.edu	37	1	153921785	153921785	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:153921785C>G	ENST00000368633.1	-	12	1607	c.1480G>C	c.(1480-1482)Gtt>Ctt	p.V494L	DENND4B_ENST00000361217.4_5'Flank|CRTC2_ENST00000368630.3_Missense_Mutation_p.V174L	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	494					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTAGGCAGAACCAGACTTGGG	0.582																																						uc010ped.1		NaN																	0				ovary(2)	2						c.(1480-1482)GTT>CTT		CREB regulated transcription coactivator 2							58.0	60.0	59.0					1																	153921785		2203	4300	6503	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153921785C>G	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1480G>C	1.37:g.153921785C>G	ENSP00000357622:p.Val494Leu					DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.V30L	p.V494L	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		12	1550	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		494					Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.1480G>C	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	c	8.911	0.958660	0.18507	.	.	ENSG00000160741	ENST00000368630;ENST00000368633	T;T	0.42513	0.97;2.79	4.91	3.96	0.45880	.	0.401453	0.23100	N	0.051922	T	0.23611	0.0571	N	0.16478	0.41	0.28839	N	0.89671	B;D	0.58970	0.001;0.984	B;D	0.68192	0.001;0.956	T	0.03394	-1.1041	10	0.07175	T	0.84	-7.0714	10.3082	0.43693	0.0:0.7831:0.2169:0.0	.	494;174	Q53ET0;Q5T4K5	CRTC2_HUMAN;.	L	174;494	ENSP00000357619:V174L;ENSP00000357622:V494L	ENSP00000357619:V174L	V	-	1	0	CRTC2	152188409	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	1.970000	0.40520	2.555000	0.86185	0.450000	0.29827	GTT		0.582	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3		NM_181715		16	119	0	0	0	0.010504	0	16	119		
NUP210L	91181	broad.mit.edu	37	1	153998045	153998045	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:153998045G>A	ENST00000368559.3	-	30	4166	c.4095C>T	c.(4093-4095)gtC>gtT	p.V1365V	NUP210L_ENST00000271854.3_Silent_p.V1365V|NUP210L_ENST00000368553.1_Silent_p.V298V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1365					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGTTTGGTTGACTCCAAAAG	0.413																																						uc001fdw.2		NaN																	0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(4093-4095)GTC>GTT		nucleoporin 210kDa-like isoform 1							176.0	168.0	171.0					1																	153998045		1850	4087	5937	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:153998045G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4095C>T	1.37:g.153998045G>A						NUP210L_uc009woq.2_Silent_p.V274V|NUP210L_uc010peh.1_Silent_p.V1365V	p.V1365V	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		30	4167	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1365					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.4095C>T	CCDS41399.1																																																																																				0.413	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3		NM_207308		113	50	0	0	0	0.00361	0	113	50		
PYGO2	90780	broad.mit.edu	37	1	154932130	154932130	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:154932130G>A	ENST00000368457.2	-	3	517	c.346C>T	c.(346-348)Cca>Tca	p.P116S	PYGO2_ENST00000368456.1_Missense_Mutation_p.P79S|RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000483463.1_5'UTR	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	116	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGTAGCCTGGGGGTACCTGG	0.682																																					NSCLC(87;357 1460 1955 21029 23522)	uc001fft.2		NaN																	0				skin(1)	1						c.(346-348)CCA>TCA		pygopus homolog 2							12.0	14.0	13.0					1																	154932130		2188	4264	6452	SO:0001583	missense	90780				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	g.chr1:154932130G>A	BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"""Zinc fingers, PHD-type"""	30257	protein-coding gene	gene with protein product		606903	"""pygopus homolog 2 (Drosophila)"""			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.346C>T	1.37:g.154932130G>A	ENSP00000357442:p.Pro116Ser						p.P116S	NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	552	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		116			Pro-rich.		Q8WYZ4|Q96CY2	Missense_Mutation	SNP	ENST00000368457.2	37	c.346C>T	CCDS1075.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437222	0.43224	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	T;T	0.49139	0.79;0.84	4.75	3.84	0.44239	.	0.262170	0.29522	N	0.011902	T	0.12220	0.0297	N	0.03608	-0.345	0.37083	D	0.899081	B	0.02656	0.0	B	0.04013	0.001	T	0.04870	-1.0921	10	0.56958	D	0.05	-2.9007	11.9033	0.52697	0.0862:0.0:0.9138:0.0	.	116	Q9BRQ0	PYGO2_HUMAN	S	116;79	ENSP00000357442:P116S;ENSP00000357441:P79S	ENSP00000357441:P79S	P	-	1	0	PYGO2	153198754	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	2.326000	0.43849	1.228000	0.43614	0.455000	0.32223	CCA		0.682	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090949.1		NM_138300		12	2	0	0	0	0.004007	0	12	2		
ADAM15	8751	broad.mit.edu	37	1	155030787	155030787	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:155030787G>A	ENST00000356955.2	+	15	1888	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q	ADAM15_ENST00000271836.6_Missense_Mutation_p.R596Q|ADAM15_ENST00000449910.2_Missense_Mutation_p.R596Q|ADAM15_ENST00000359280.4_Missense_Mutation_p.R596Q|ADAM15_ENST00000360674.4_Missense_Mutation_p.R596Q|ADAM15_ENST00000368410.2_Missense_Mutation_p.R302Q|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Missense_Mutation_p.R606Q|ADAM15_ENST00000368413.1_Missense_Mutation_p.R302Q|ADAM15_ENST00000447332.3_Missense_Mutation_p.R580Q|ADAM15_ENST00000355956.2_Missense_Mutation_p.R596Q|ADAM15_ENST00000368412.3_Missense_Mutation_p.R596Q	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	596	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGCTCCATCCGGGATCTACTC	0.597																																						uc001fgr.1		NaN																	0				central_nervous_system(3)|skin(2)|ovary(1)	6						c.(1786-1788)CGG>CAG		a disintegrin and metalloproteinase domain 15							46.0	46.0	46.0					1																	155030787		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155030787G>A	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1787G>A	1.37:g.155030787G>A	ENSP00000349436:p.Arg596Gln					ADAM15_uc001fgq.1_Missense_Mutation_p.R281Q|ADAM15_uc010pet.1_Missense_Mutation_p.R580Q|ADAM15_uc010peu.1_Missense_Mutation_p.R613Q|ADAM15_uc001fgt.1_Missense_Mutation_p.R596Q|ADAM15_uc010pev.1_Missense_Mutation_p.R606Q|ADAM15_uc001fgs.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgu.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgw.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgv.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgx.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'UTR	p.R596Q	NM_207197	NP_997080	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		15	1888	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		596			Extracellular (Potential).|Cys-rich.		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.1787G>A	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	g	2.037	-0.421057	0.04734	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02	5.23	-4.14	0.03892	ADAM, cysteine-rich (2);	1.567270	0.03968	N	0.291124	T	0.01730	0.0055	N	0.01297	-0.9	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.15141	0.005;0.005;0.005;0.002;0.012;0.004;0.004;0.004;0.005;0.005;0.005	B;B;B;B;B;B;B;B;B;B;B	0.14023	0.007;0.007;0.004;0.006;0.004;0.004;0.004;0.004;0.004;0.01;0.007	T	0.36696	-0.9737	10	0.18710	T	0.47	.	8.6545	0.34055	0.6149:0.1095:0.2757:0.0	.	606;613;580;596;596;596;596;596;596;596;593	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	Q	596;596;596;596;596;596;302;596;302;606	ENSP00000349436:R596Q;ENSP00000403843:R596Q;ENSP00000352226:R596Q;ENSP00000353892:R596Q;ENSP00000357397:R596Q;ENSP00000348227:R596Q;ENSP00000357395:R302Q;ENSP00000271836:R596Q;ENSP00000357398:R302Q;ENSP00000432927:R606Q	ENSP00000271836:R596Q	R	+	2	0	ADAM15	153297411	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.589000	0.05767	-0.908000	0.03857	-1.966000	0.00469	CGG		0.597	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1		NM_003815		13	65	0	0	0	0.007413	0	13	65		
NES	10763	broad.mit.edu	37	1	156640230	156640230	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:156640230C>T	ENST00000368223.3	-	4	3882	c.3750G>A	c.(3748-3750)caG>caA	p.Q1250Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1250	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCCCTCCCCTGCACCCCCC	0.662																																						uc001fpq.2		NaN																	0				ovary(6)	6						c.(3748-3750)CAG>CAA		nestin							79.0	90.0	86.0					1																	156640230		2203	4300	6503	SO:0001819	synonymous_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156640230C>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3750G>A	1.37:g.156640230C>T							p.Q1250Q	NM_006617	NP_006608	P48681	NEST_HUMAN			4	3883	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1250			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.3750G>A	CCDS1151.1																																																																																				0.662	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2		NM_006617		49	216	0	0	0	0.00361	0	49	216		
OR10R2	343406	broad.mit.edu	37	1	158450082	158450082	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:158450082G>C	ENST00000368152.1	+	1	415	c.415G>C	c.(415-417)Ggt>Cgt	p.G139R	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGGTGTGATGGGTTATGATCG	0.488																																						uc010pik.1		NaN																	0				pancreas(2)|skin(1)	3						c.(415-417)GGT>CGT		olfactory receptor, family 10, subfamily R,							351.0	301.0	318.0					1																	158450082		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450082G>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.415G>C	1.37:g.158450082G>C	ENSP00000357134:p.Gly139Arg					uc001fso.1_RNA	p.G139R	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	415	+	all_hematologic(112;0.0378)		139			Helical; Name=3; (Potential).		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.415G>C	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	g	14.68	2.608672	0.46527	.	.	ENSG00000198965	ENST00000368152	T	0.01359	4.98	4.48	2.61	0.31194	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03871	0.0109	M	0.83953	2.67	0.37168	D	0.9029	D	0.89917	1.0	D	0.85130	0.997	T	0.12477	-1.0546	9	0.87932	D	0	.	9.7593	0.40522	0.1733:0.0:0.8267:0.0	.	139	Q8NGX6	O10R2_HUMAN	R	139	ENSP00000357134:G139R	ENSP00000357134:G139R	G	+	1	0	OR10R2	156716706	1.000000	0.71417	0.995000	0.50966	0.404000	0.30871	2.664000	0.46783	0.495000	0.27882	-0.126000	0.14955	GGT		0.488	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2		NM_001004472		341	134	0	0	0	0.00361	0	341	134		
OR6N2	81442	broad.mit.edu	37	1	158747267	158747267	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:158747267T>C	ENST00000339258.1	-	1	158	c.159A>G	c.(157-159)gcA>gcG	p.A53A		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TGTGCAGAGCTGCATCCAGTC	0.463																																						uc010pir.1		NaN																	0					0						c.(157-159)GCA>GCG		olfactory receptor, family 6, subfamily N,							161.0	151.0	155.0					1																	158747267		2203	4300	6503	SO:0001819	synonymous_variant	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747267T>C	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.159A>G	1.37:g.158747267T>C							p.A53A	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	159	-	all_hematologic(112;0.0378)		53			Cytoplasmic (Potential).		Q6IFR2	Silent	SNP	ENST00000339258.1	37	c.159A>G	CCDS30906.1																																																																																				0.463	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1				174	58	0	0	0	0.00361	0	174	58		
CADM3	57863	broad.mit.edu	37	1	159166685	159166685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:159166685C>T	ENST00000368125.4	+	7	944	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	CADM3_ENST00000368124.4_Nonsense_Mutation_p.Q297*|CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	263	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CGACAGCCCCCAGCAGTACCT	0.527																																						uc001ftl.2		NaN																	0				ovary(2)	2						c.(787-789)CAG>TAG		cell adhesion molecule 3 isoform 2							72.0	68.0	70.0					1																	159166685		2203	4300	6503	SO:0001587	stop_gained	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159166685C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.787C>T	1.37:g.159166685C>T	ENSP00000357107:p.Gln263*					CADM3_uc009wsy.1_Nonsense_Mutation_p.Q217*|CADM3_uc001ftk.2_Nonsense_Mutation_p.Q297*|uc001ftm.1_RNA	p.Q263*	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			7	929	+	all_hematologic(112;0.0429)		263			Ig-like C2-type 2.|Extracellular (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Nonsense_Mutation	SNP	ENST00000368125.4	37	c.787C>T	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	37	6.301559	0.97458	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	.	.	.	5.07	4.13	0.48395	.	0.299965	0.30809	N	0.008835	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	7.7239	0.28748	0.2102:0.6294:0.1604:0.0	.	.	.	.	X	297;263;217	.	ENSP00000357106:Q297X	Q	+	1	0	CADM3	157433309	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	1.764000	0.38471	1.294000	0.44707	0.591000	0.81541	CAG		0.527	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1		NM_021189		92	30	0	0	0	0.00361	0	92	30		
CRP	1401	broad.mit.edu	37	1	159683378	159683378	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:159683378G>A	ENST00000255030.5	-	2	715	c.612C>T	c.(610-612)aaC>aaT	p.N204N	CRP_ENST00000343919.2_Silent_p.N82N|CRP_ENST00000368112.1_Silent_p.N71N|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368111.1_Silent_p.N82N|CRP_ENST00000368110.1_Silent_p.N82N|CRP_ENST00000437342.1_Silent_p.N26N	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	204	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	GTGCCCGCCAGTTCAGGACAT	0.532																																						uc001ftw.2		NaN																	0				ovary(1)	1						c.(610-612)AAC>AAT		C-reactive protein, pentraxin-related precursor	Atorvastatin(DB01076)|Bezafibrate(DB01393)						64.0	66.0	65.0					1																	159683378		2203	4300	6503	SO:0001819	synonymous_variant	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683378G>A	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.612C>T	1.37:g.159683378G>A						CRP_uc001ftx.1_Silent_p.N71N|CRP_uc001fty.1_RNA	p.N204N	NM_000567	NP_000558	P02741	CRP_HUMAN			2	716	-	all_hematologic(112;0.0429)		204			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Silent	SNP	ENST00000255030.5	37	c.612C>T	CCDS30911.1																																																																																				0.532	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1		NM_000567		20	120	0	0	0	0.012319	0	20	120		
NCSTN	23385	broad.mit.edu	37	1	160326392	160326392	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:160326392G>T	ENST00000294785.5	+	15	1767	c.1642G>T	c.(1642-1644)Gac>Tac	p.D548Y	NCSTN_ENST00000535857.1_Missense_Mutation_p.D410Y|NCSTN_ENST00000368063.1_Missense_Mutation_p.D528Y|NCSTN_ENST00000368065.4_Missense_Mutation_p.D290Y|NCSTN_ENST00000392212.4_Missense_Mutation_p.D528Y	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	548					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCACTCAGGTGACGGGCCTCT	0.512																																						uc001fvx.2		NaN																	0				ovary(1)|lung(1)	2						c.(1642-1644)GAC>TAC		nicastrin precursor							149.0	153.0	152.0					1																	160326392		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160326392G>T	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1642G>T	1.37:g.160326392G>T	ENSP00000294785:p.Asp548Tyr					NCSTN_uc001fvy.2_Missense_Mutation_p.D528Y|NCSTN_uc010pjf.1_Missense_Mutation_p.D410Y|NCSTN_uc001fvz.2_Missense_Mutation_p.D328Y|NCSTN_uc010pjg.1_Missense_Mutation_p.D290Y	p.D548Y	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		15	1766	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		548			Extracellular (Potential).		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.1642G>T	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834822	0.71373	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000535857;ENST00000368067;ENST00000392212;ENST00000368065	T;T;T;T	0.78246	-1.16;-1.16;-0.18;-1.16	5.72	5.72	0.89469	.	0.203361	0.50627	D	0.000108	T	0.76744	0.4030	L	0.29908	0.895	0.22001	N	0.999423	D;D;D	0.71674	0.998;0.996;0.985	D;P;P	0.64877	0.93;0.878;0.77	T	0.73827	-0.3860	10	0.87932	D	0	-19.5173	18.4423	0.90671	0.0:0.0:1.0:0.0	.	410;528;548	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	Y	548;528;410;255;528;290	ENSP00000294785:D548Y;ENSP00000357042:D528Y;ENSP00000442605:D410Y;ENSP00000376047:D528Y	ENSP00000294785:D548Y	D	+	1	0	NCSTN	158593016	0.993000	0.37304	0.090000	0.20809	0.390000	0.30446	3.377000	0.52425	2.699000	0.92147	0.650000	0.86243	GAC		0.512	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1		NM_015331		48	251	1	0	2.93687e-30	0.00361	3.4315e-30	48	251		
SLAMF6	114836	broad.mit.edu	37	1	160466111	160466111	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:160466111G>A	ENST00000368057.3	-	2	182	c.122C>T	c.(121-123)cCc>cTc	p.P41L	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368059.3_Missense_Mutation_p.P41L			Q96DU3	SLAF6_HUMAN	SLAM family member 6	41	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AAACTCCAGGGGAAGAGTTAC	0.438																																						uc001fwe.1		NaN																	0				ovary(1)|skin(1)	2						c.(121-123)CCC>CTC		activating NK receptor precursor							204.0	201.0	202.0					1																	160466111		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160466111G>A	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.122C>T	1.37:g.160466111G>A	ENSP00000357036:p.Pro41Leu					SLAMF6_uc001fwd.1_Missense_Mutation_p.P41L|SLAMF6_uc010pjh.1_Intron|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Intron	p.P41L	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	182	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		41			Extracellular (Potential).		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.122C>T	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557656	0.45590	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	T;T	0.67698	-0.28;-0.28	4.95	3.09	0.35607	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.824048	0.11149	N	0.594378	T	0.58722	0.2142	M	0.85630	2.765	0.09310	N	0.999999	D;D	0.56287	0.975;0.975	P;P	0.46172	0.506;0.506	T	0.54938	-0.8218	10	0.87932	D	0	-9.0797	7.5402	0.27733	0.1923:0.0:0.8077:0.0	.	41;41	Q96DU3;B2R8X8	SLAF6_HUMAN;.	L	41	ENSP00000357038:P41L;ENSP00000357036:P41L	ENSP00000357036:P41L	P	-	2	0	SLAMF6	158732735	0.153000	0.22777	0.012000	0.15200	0.009000	0.06853	1.499000	0.35671	0.696000	0.31696	-0.150000	0.13652	CCC		0.438	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1		NM_052931		47	412	0	0	0	0.00361	0	47	412		
NDUFS2	4720	broad.mit.edu	37	1	161176202	161176202	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:161176202G>A	ENST00000367993.3	+	4	656	c.208G>A	c.(208-210)Gac>Aac	p.D70N	NDUFS2_ENST00000392179.4_Missense_Mutation_p.D70N|NDUFS2_ENST00000476409.2_5'UTR	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	70					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	CTCAGATGTGGACCCTCCAAA	0.473																																						uc001fyv.2		NaN																	0				skin(1)	1						c.(208-210)GAC>AAC		NADH dehydrogenase (ubiquinone) Fe-S protein 2	NADH(DB00157)						78.0	71.0	74.0					1																	161176202		2203	4300	6503	SO:0001583	missense	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161176202G>A	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.208G>A	1.37:g.161176202G>A	ENSP00000356972:p.Asp70Asn					NDUFS2_uc010pki.1_5'UTR|NDUFS2_uc001fyw.2_Missense_Mutation_p.D70N|NDUFS2_uc010pkj.1_Missense_Mutation_p.D19N|NDUFS2_uc001fyx.2_Missense_Mutation_p.D70N|NDUFS2_uc001fyy.1_Missense_Mutation_p.D19N	p.D70N	NM_004550	NP_004541	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	656	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		70					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	ENST00000367993.3	37	c.208G>A	CCDS1224.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905216	0.33628	.	.	ENSG00000158864	ENST00000367993;ENST00000392179	D;D	0.85171	-1.95;-1.95	6.03	6.03	0.97812	.	0.119186	0.56097	D	0.000040	T	0.69566	0.3125	L	0.29908	0.895	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.08055	0.002;0.003;0.003	T	0.64993	-0.6276	10	0.17832	T	0.49	.	19.3381	0.94329	0.0:0.0:1.0:0.0	.	19;70;70	B7Z792;Q53HG2;O75306	.;.;NDUS2_HUMAN	N	70	ENSP00000356972:D70N;ENSP00000376018:D70N	ENSP00000356972:D70N	D	+	1	0	NDUFS2	159442826	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	8.505000	0.90515	2.854000	0.98071	0.655000	0.94253	GAC		0.473	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1		NM_004550		12	98	0	0	0	0.004007	0	12	98		
RXRG	6258	broad.mit.edu	37	1	165414106	165414106	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:165414106T>C	ENST00000359842.5	-	1	327	c.25A>G	c.(25-27)Atg>Gtg	p.M9V		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	9	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GGAAACTTCATGAAGTGAGAA	0.473																																						uc001gda.2		NaN																	0					0						c.(25-27)ATG>GTG		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						158.0	136.0	144.0					1																	165414106		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165414106T>C	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.25A>G	1.37:g.165414106T>C	ENSP00000352900:p.Met9Val					RXRG_uc001gdb.1_Missense_Mutation_p.M9V	p.M9V	NM_006917	NP_008848	P48443	RXRG_HUMAN			1	325	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		9			Modulating (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.25A>G	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.658231	0.29425	.	.	ENSG00000143171	ENST00000359842	D	0.91407	-2.84	5.3	4.17	0.49024	.	0.565301	0.19420	N	0.114720	T	0.70124	0.3188	N	0.24115	0.695	0.25522	N	0.98736	B;B	0.22080	0.064;0.0	B;B	0.17722	0.019;0.0	T	0.57277	-0.7839	9	0.27082	T	0.32	.	7.9519	0.30019	0.0:0.094:0.0:0.906	.	9;9	B2R7C0;P48443	.;RXRG_HUMAN	V	9	ENSP00000352900:M9V	ENSP00000352900:M9V	M	-	1	0	RXRG	163680730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.728000	0.47319	0.846000	0.35142	0.459000	0.35465	ATG		0.473	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2		NM_006917		51	108	0	0	0	0.00361	0	51	108		
LRRC52	440699	broad.mit.edu	37	1	165532930	165532930	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:165532930G>C	ENST00000294818.1	+	2	1101	c.811G>C	c.(811-813)Gtg>Ctg	p.V271L	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	271					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TGTGTGTGCTGTGCTCTACCA	0.582																																						uc001gde.2		NaN																	0				ovary(1)	1						c.(811-813)GTG>CTG		leucine rich repeat containing 52 precursor							57.0	51.0	53.0					1																	165532930		2203	4300	6503	SO:0001583	missense	440699					integral to membrane		g.chr1:165532930G>C	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.811G>C	1.37:g.165532930G>C	ENSP00000294818:p.Val271Leu					LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	p.V271L	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN			2	867	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		271			Cytoplasmic (Potential).		A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	c.811G>C	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114818	0.77210	.	.	ENSG00000162763	ENST00000294818	T	0.64991	-0.13	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	M	0.76328	2.33	0.28519	N	0.913179	P	0.42735	0.788	P	0.45232	0.474	T	0.56511	-0.7967	9	0.27785	T	0.31	.	12.2864	0.54795	0.0:0.0:1.0:0.0	.	271	Q8N7C0	LRC52_HUMAN	L	271	ENSP00000294818:V271L	ENSP00000294818:V271L	V	+	1	0	LRRC52	163799554	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	6.384000	0.73177	1.992000	0.58205	0.655000	0.94253	GTG		0.582	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1		NM_001005214		12	95	0	0	0	0.001368	0	12	95		
ILDR2	387597	broad.mit.edu	37	1	166891923	166891923	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:166891923T>C	ENST00000271417.3	-	8	1173	c.1118A>G	c.(1117-1119)tAt>tGt	p.Y373C	ILDR2_ENST00000526687.1_Missense_Mutation_p.Y265C|ILDR2_ENST00000525740.1_Missense_Mutation_p.Y246C|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.Y373C|ILDR2_ENST00000529071.1_Missense_Mutation_p.Y354C|ILDR2_ENST00000528703.1_Missense_Mutation_p.Y314C	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	373					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ACCTGACCAATAGTCAGGATT	0.552																																						uc001gdx.1		NaN																	0				ovary(1)	1						c.(1117-1119)TAT>TGT		immunoglobulin-like domain containing receptor							162.0	164.0	163.0					1																	166891923		2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166891923T>C	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1118A>G	1.37:g.166891923T>C	ENSP00000271417:p.Tyr373Cys						p.Y373C	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			8	1174	-			373			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000271417.3	37	c.1118A>G	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.990459	0.74589	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T;T	0.78707	0.48;-1.2;0.32;0.47;-1.18;-0.17	5.24	5.24	0.73138	.	0.241411	0.37219	N	0.002199	D	0.82273	0.5001	M	0.63428	1.95	0.39663	D	0.97064	D	0.89917	1.0	D	0.85130	0.997	D	0.83541	0.0096	10	0.46703	T	0.11	.	13.7065	0.62644	0.0:0.0:0.0:1.0	.	373	Q71H61	ILDR2_HUMAN	C	373;246;373;354;265;314	ENSP00000271417:Y373C;ENSP00000436120:Y246C;ENSP00000437008:Y373C;ENSP00000436882:Y354C;ENSP00000434273:Y265C;ENSP00000432750:Y314C	ENSP00000271417:Y373C	Y	-	2	0	ILDR2	165158547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.172000	0.65003	1.965000	0.57142	0.459000	0.35465	TAT		0.552	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2		NM_199351		313	252	0	0	0	0.00361	0	313	252		
CD247	919	broad.mit.edu	37	1	167487650	167487650	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:167487650A>T	ENST00000362089.5	-	1	125	c.53T>A	c.(52-54)aTt>aAt	p.I18N	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000392122.3_Missense_Mutation_p.I18N			P20963	CD3Z_HUMAN	CD247 molecule	18					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	CCTACCTGTAATCGGCAACTG	0.587																																					Ovarian(192;1815 2869 36877 43334)	uc001gei.3		NaN																	0					0						c.(52-54)ATT>AAT		T-cell receptor zeta chain isoform 1 precursor							97.0	91.0	93.0					1																	167487650		2203	4300	6503	SO:0001583	missense	919				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity	g.chr1:167487650A>T	BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.53T>A	1.37:g.167487650A>T	ENSP00000354782:p.Ile18Asn					CD247_uc001gej.3_Missense_Mutation_p.I18N|CD247_uc001gek.2_Missense_Mutation_p.I18N	p.I18N	NM_198053	NP_932170	P20963	CD3Z_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.236)		1	198	-			18					B1AK49|Q5VX13|Q8TAX4	Missense_Mutation	SNP	ENST00000362089.5	37	c.53T>A	CCDS1261.1	.	.	.	.	.	.	.	.	.	.	A	8.384	0.838299	0.16891	.	.	ENSG00000198821	ENST00000392122;ENST00000362089	.	.	.	5.02	-5.42	0.02640	.	0.892392	0.09030	U	0.858925	T	0.10766	0.0263	L	0.40543	1.245	0.23386	N	0.997781	P;B;B	0.51537	0.946;0.202;0.128	B;B;B	0.43386	0.418;0.076;0.035	T	0.03863	-1.0997	8	0.29301	T	0.29	.	7.5313	0.27685	0.2829:0.4969:0.2202:0.0	.	18;18;18	Q6KAV0;P20963-3;P20963	.;.;CD3Z_HUMAN	N	18	.	ENSP00000354782:I18N	I	-	2	0	CD247	165754274	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.406000	0.07187	-1.327000	0.02264	-1.106000	0.02097	ATT		0.587	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083707.1		NM_198053		15	145	0	0	0	0.002299	0	15	145		
DCAF6	55827	broad.mit.edu	37	1	167962475	167962475	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:167962475G>A	ENST00000312263.6	+	7	904	c.700G>A	c.(700-702)Ggt>Agt	p.G234S	DCAF6_ENST00000367843.3_Missense_Mutation_p.G234S|DCAF6_ENST00000367840.3_Missense_Mutation_p.G234S|DCAF6_ENST00000432587.2_Missense_Mutation_p.G203S	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	234					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GAATTATGCAGGTCGAGGGAC	0.318																																						uc001gew.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(700-702)GGT>AGT		IQ motif and WD repeats 1 isoform b							78.0	73.0	75.0					1																	167962475		2203	4300	6503	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167962475G>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.700G>A	1.37:g.167962475G>A	ENSP00000311949:p.Gly234Ser					DCAF6_uc001gev.2_Missense_Mutation_p.G234S|DCAF6_uc001gex.2_Missense_Mutation_p.G234S|DCAF6_uc010plk.1_Missense_Mutation_p.G203S|DCAF6_uc001gey.2_Missense_Mutation_p.G87S	p.G234S	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			7	942	+			234					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.700G>A	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221856	0.79464	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.81078	-1.44;0.32;-1.44;-1.45	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.116516	0.64402	D	0.000015	T	0.76983	0.4064	L	0.32530	0.975	0.58432	D	0.999998	D;D;P;D	0.89917	0.991;0.998;0.711;1.0	P;D;B;D	0.72982	0.838;0.979;0.197;0.951	T	0.73503	-0.3962	10	0.20046	T	0.44	.	12.3387	0.55081	0.0781:0.0:0.9219:0.0	.	203;234;234;234	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	S	234;203;234;234	ENSP00000356817:G234S;ENSP00000396238:G203S;ENSP00000311949:G234S;ENSP00000356814:G234S	ENSP00000311949:G234S	G	+	1	0	DCAF6	166229099	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.115000	0.71566	2.547000	0.85894	0.454000	0.30748	GGT		0.318	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2		NM_018442		44	57	0	0	0	0.00361	0	44	57		
FMO2	2327	broad.mit.edu	37	1	171162616	171162616	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:171162616G>A	ENST00000209929.7	+	3	433	c.275G>A	c.(274-276)aGg>aAg	p.R92K	FMO2_ENST00000441535.1_Missense_Mutation_p.R92K|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	92					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAATATTTCAGGATTTTTGCT	0.343																																						uc001ghk.1		NaN																	0				skin(1)	1						c.(274-276)AGG>AAG		flavin containing monooxygenase 2							41.0	43.0	42.0					1																	171162616		2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171162616G>A	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.275G>A	1.37:g.171162616G>A	ENSP00000209929:p.Arg92Lys					FMO2_uc010pmd.1_5'UTR	p.R92K	NM_001460	NP_001451	Q99518	FMO2_HUMAN			3	392	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		92					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.275G>A	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885259	0.51908	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.51817	0.69;0.69	5.21	3.31	0.37934	.	0.046997	0.85682	D	0.000000	T	0.15046	0.0363	N	0.16862	0.45	0.30818	N	0.738059	B	0.11235	0.004	B	0.17979	0.02	T	0.08166	-1.0735	10	0.33940	T	0.23	-23.3111	10.4999	0.44800	0.1857:0.0:0.8143:0.0	.	92	Q99518	FMO2_HUMAN	K	92	ENSP00000209929:R92K;ENSP00000405905:R92K	ENSP00000209929:R92K	R	+	2	0	FMO2	169429240	0.080000	0.21391	0.999000	0.59377	0.980000	0.70556	2.382000	0.44345	2.434000	0.82447	0.655000	0.94253	AGG		0.343	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2		NM_001460		7	58	0	0	0	0.00308	0	7	58		
TNN	63923	broad.mit.edu	37	1	175086217	175086217	+	Silent	SNP	G	G	A	rs199995910	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:175086217G>A	ENST00000239462.4	+	10	2375	c.2262G>A	c.(2260-2262)ccG>ccA	p.P754P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	754	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGGAGGTTCCGGTGGGGAAGG	0.637													G|||	4	0.000798722	0.0	0.0	5008	,	,		18015	0.004		0.0	False		,,,				2504	0.0					uc001gkl.1		NaN																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2260-2262)CCG>CCA		tenascin N precursor							91.0	85.0	87.0					1																	175086217		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086217G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2262G>A	1.37:g.175086217G>A							p.P754P	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2375	+		Breast(1374;0.000962)	754			Fibronectin type-III 6.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2262G>A	CCDS30943.1																																																																																				0.637	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1		XM_040527		5	146	0	0	0	0.001855	0	5	146		
KIF14	9928	broad.mit.edu	37	1	200558410	200558410	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:200558410G>T	ENST00000367350.4	-	18	3487	c.3049C>A	c.(3049-3051)Cat>Aat	p.H1017N		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1017	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TGTTCAAGATGCTGCTTTGCC	0.323																																						uc010ppk.1		NaN																	0				breast(3)|ovary(2)|skin(2)	7						c.(3049-3051)CAT>AAT		kinesin family member 14							163.0	152.0	156.0					1																	200558410		2202	4300	6502	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200558410G>T	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3049C>A	1.37:g.200558410G>T	ENSP00000356319:p.His1017Asn					KIF14_uc010ppj.1_Missense_Mutation_p.H526N	p.H1017N	NM_014875	NP_055690	Q15058	KIF14_HUMAN			18	3488	-			1017			Potential.|Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.3049C>A	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	7.863	0.726427	0.15439	.	.	ENSG00000118193	ENST00000367350	T	0.15952	2.38	5.25	5.25	0.73442	.	0.643147	0.15081	N	0.281642	T	0.12390	0.0301	L	0.31664	0.95	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.22521	-1.0214	10	0.15499	T	0.54	.	10.8512	0.46771	0.0:0.1305:0.7175:0.1519	.	1017	Q15058	KIF14_HUMAN	N	1017	ENSP00000356319:H1017N	ENSP00000356319:H1017N	H	-	1	0	KIF14	198825033	0.837000	0.29446	0.507000	0.27676	0.971000	0.66376	2.797000	0.47877	2.438000	0.82558	0.555000	0.69702	CAT		0.323	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1		NM_014875		16	33	1	0	6.49762e-13	0.006122	7.09412e-13	16	33		
GOLT1A	127845	broad.mit.edu	37	1	204170901	204170901	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:204170901C>T	ENST00000308302.3	-	3	341	c.156G>A	c.(154-156)ctG>ctA	p.L52L	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			AGGTCTTCCTCAGGCCAATGA	0.592																																						uc001has.1		NaN																	0					0						c.(154-156)CTG>CTA		golgi transport 1 homolog A							116.0	120.0	119.0					1																	204170901		2203	4300	6503	SO:0001819	synonymous_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170901C>T	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.156G>A	1.37:g.204170901C>T						GOLT1A_uc001hat.1_Silent_p.L52L	p.L52L	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	342	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		52			Helical; Name=2; (Potential).			Silent	SNP	ENST00000308302.3	37	c.156G>A	CCDS1443.1																																																																																				0.592	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1		NM_198447		66	24	0	0	0	0.00361	0	66	24		
MFSD4	148808	broad.mit.edu	37	1	205561360	205561360	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:205561360C>T	ENST00000367147.4	+	7	1335	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	MFSD4_ENST00000536357.1_Silent_p.L327L|MFSD4_ENST00000539267.1_Silent_p.L414L|RNU6-418P_ENST00000384035.1_RNA	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	414					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCCTGTTTCTCAGCAGCACCT	0.622											OREG0014160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hcv.3		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(1240-1242)CTC>CTT		major facilitator superfamily domain containing							104.0	77.0	86.0					1																	205561360		2203	4300	6503	SO:0001819	synonymous_variant	148808				transmembrane transport	integral to membrane		g.chr1:205561360C>T	BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.1242C>T	1.37:g.205561360C>T			OREG0014160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2153	MFSD4_uc010prk.1_Silent_p.L327L|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Silent_p.L359L|MFSD4_uc009xbn.2_RNA	p.L414L	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		7	1328	+	Breast(84;0.07)		414			Helical; (Potential).		B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Silent	SNP	ENST00000367147.4	37	c.1242C>T	CCDS1455.1																																																																																				0.622	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1		NM_181644		35	13	0	0	0	0.00361	0	35	13		
SRGAP2	23380	broad.mit.edu	37	1	206566186	206566186	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:206566186C>T	ENST00000414007.1	+	2	207	c.207C>T	c.(205-207)tcC>tcT	p.S69S	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	209	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CCCCTGACTCCACGGCCAACG	0.532																																						uc001hdy.2		NaN																	0					0						c.(364-366)TCC>TCT		SLIT-ROBO Rho GTPase activating protein 2							101.0	97.0	98.0					1																	206566186		2178	4286	6464	SO:0001819	synonymous_variant	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206566186C>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.207C>T	1.37:g.206566186C>T						SRGAP2_uc009xbt.2_Silent_p.S46S|SRGAP2_uc010prt.1_Silent_p.S46S|SRGAP2_uc001hdx.2_Silent_p.S122S|SRGAP2_uc010pru.1_Silent_p.S46S|SRGAP2_uc010prv.1_Silent_p.S46S	p.S122S	NM_015326	NP_056141	O75044	FNBP2_HUMAN			3	699	+	Breast(84;0.137)		209						Silent	SNP	ENST00000414007.1	37	c.366C>T		.	.	.	.	.	.	.	.	.	.	C	9.030	0.987139	0.18889	.	.	ENSG00000163486	ENST00000295713	.	.	.	5.36	2.43	0.29744	.	.	.	.	.	T	0.40423	0.1116	.	.	.	0.30974	N	0.7227589999999999	.	.	.	.	.	.	T	0.47209	-0.9135	3	.	.	.	.	6.253	0.20856	0.1796:0.6118:0.0:0.2086	.	.	.	.	Y	123	.	.	H	+	1	0	SRGAP2	204632809	0.005000	0.15991	0.920000	0.36463	0.870000	0.49936	-0.258000	0.08733	0.616000	0.30141	0.455000	0.32223	CAC		0.532	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding			NM_015326		3	39	0	0	0	0.000602	0	3	39		
TRAF3IP3	80342	broad.mit.edu	37	1	209935923	209935923	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:209935923G>T	ENST00000367024.1	+	4	925	c.409G>T	c.(409-411)Gat>Tat	p.D137Y	TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.D117Y|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.D117Y|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.D117Y|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.D137Y			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	137						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CATCTGCAGGGATCTGTCTGA	0.587																																						uc001hho.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(409-411)GAT>TAT		TRAF3-interacting JNK-activating modulator							83.0	78.0	80.0					1																	209935923		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209935923G>T		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.409G>T	1.37:g.209935923G>T	ENSP00000355991:p.Asp137Tyr					TRAF3IP3_uc001hhl.2_Missense_Mutation_p.D117Y|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.D137Y|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.D117Y|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.D137Y	p.D137Y	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	4	699	+			137			Cytoplasmic (Potential).		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.409G>T	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145599	0.57044	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.52983	0.68;0.69;0.64;0.69;0.64	4.55	4.55	0.56014	.	0.462475	0.20564	N	0.089858	T	0.61009	0.2313	L	0.57536	1.79	0.28656	N	0.906398	D;P;D;P	0.71674	0.992;0.946;0.998;0.946	P;P;D;P	0.63192	0.789;0.789;0.912;0.789	T	0.57911	-0.7729	10	0.72032	D	0.01	-1.0555	12.6915	0.56976	0.0:0.0:1.0:0.0	.	137;117;137;117	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	Y	117;137;120;117;137;117	ENSP00000383743:D117Y;ENSP00000355992:D137Y;ENSP00000355993:D117Y;ENSP00000355991:D137Y;ENSP00000010338:D117Y	ENSP00000010338:D117Y	D	+	1	0	TRAF3IP3	208002546	0.918000	0.31147	0.368000	0.25939	0.029000	0.11900	3.894000	0.56250	2.361000	0.80049	0.585000	0.79938	GAT		0.587	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2				20	5	1	0	7.38237e-10	0.00632	7.86665e-10	20	5		
ESRRG	2104	broad.mit.edu	37	1	216737663	216737663	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:216737663C>T	ENST00000408911.3	-	5	913	c.760G>A	c.(760-762)Gac>Aac	p.D254N	ESRRG_ENST00000487276.1_Missense_Mutation_p.D231N|ESRRG_ENST00000361395.2_Missense_Mutation_p.D231N|ESRRG_ENST00000493603.1_Missense_Mutation_p.D231N|ESRRG_ENST00000391890.3_Missense_Mutation_p.D238N|ESRRG_ENST00000463665.1_Missense_Mutation_p.D192N|ESRRG_ENST00000361525.3_Missense_Mutation_p.D231N|ESRRG_ENST00000366938.2_Missense_Mutation_p.D231N|ESRRG_ENST00000366937.1_Missense_Mutation_p.D266N|ESRRG_ENST00000360012.3_Missense_Mutation_p.D231N|ESRRG_ENST00000359162.2_Missense_Mutation_p.D231N|ESRRG_ENST00000493748.1_Missense_Mutation_p.D231N|ESRRG_ENST00000366940.2_Missense_Mutation_p.D231N	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	254					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ACAGTAGGGTCAGGCATGGCA	0.493																																						uc001hkw.1		NaN																	0				ovary(1)|kidney(1)	2						c.(760-762)GAC>AAC		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						176.0	148.0	158.0					1																	216737663		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216737663C>T	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.760G>A	1.37:g.216737663C>T	ENSP00000386171:p.Asp254Asn					ESRRG_uc001hky.1_Missense_Mutation_p.D231N|ESRRG_uc009xdp.1_Missense_Mutation_p.D231N|ESRRG_uc001hkz.1_Missense_Mutation_p.D192N|ESRRG_uc010puc.1_Missense_Mutation_p.D231N|ESRRG_uc001hla.1_Missense_Mutation_p.D231N|ESRRG_uc001hlb.1_Missense_Mutation_p.D231N|ESRRG_uc010pud.1_Missense_Mutation_p.D62N|ESRRG_uc001hlc.1_Missense_Mutation_p.D231N|ESRRG_uc001hld.1_Missense_Mutation_p.D231N|ESRRG_uc001hkx.1_Missense_Mutation_p.D266N|ESRRG_uc009xdo.1_Missense_Mutation_p.D231N|ESRRG_uc001hle.1_Missense_Mutation_p.D231N	p.D254N	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	5	926	-			254					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.760G>A	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346267	0.95807	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02	5.56	5.56	0.83823	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.043376	0.85682	D	0.000000	D	0.97857	0.9296	M	0.74389	2.26	0.80722	D	1	P;D;D	0.71674	0.584;0.996;0.998	P;P;D	0.65773	0.453;0.779;0.938	D	0.97999	1.0359	10	0.54805	T	0.06	.	19.5216	0.95187	0.0:1.0:0.0:0.0	.	192;266;254	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	N	231;231;266;254;231;231;231;231;231;238;192;231;231;231;231	ENSP00000355225:D231N;ENSP00000355907:D231N;ENSP00000355904:D266N;ENSP00000386171:D254N;ENSP00000352077:D231N;ENSP00000354584:D231N;ENSP00000355905:D231N;ENSP00000353108:D231N;ENSP00000419594:D231N;ENSP00000375761:D238N;ENSP00000418629:D192N;ENSP00000419155:D231N;ENSP00000417374:D231N;ENSP00000419514:D231N	ENSP00000346386:D231N	D	-	1	0	ESRRG	214804286	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.605000	0.88082	0.655000	0.94253	GAC		0.493	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2		NM_206595		37	4	0	0	0	0.011902	0	37	4		
LYST	1130	broad.mit.edu	37	1	235964228	235964228	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:235964228C>T	ENST00000389794.3	-	9	4056	c.3882G>A	c.(3880-3882)gaG>gaA	p.E1294E	LYST_ENST00000389793.2_Silent_p.E1294E|LYST_ENST00000536965.1_Silent_p.E1294E			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1294					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCAAAAAACTCTCAAATACAT	0.313																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(3880-3882)GAG>GAA		lysosomal trafficking regulator							57.0	58.0	57.0					1																	235964228		2203	4300	6503	SO:0001819	synonymous_variant	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235964228C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3882G>A	1.37:g.235964228C>T						LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.E1294E	p.E1294E	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		9	4057	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1294					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.3882G>A	CCDS31062.1																																																																																				0.313	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				7	23	0	0	0	0.001984	0	7	23		
MTR	4548	broad.mit.edu	37	1	237016251	237016251	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:237016251G>A	ENST00000366577.5	+	18	2210	c.1816G>A	c.(1816-1818)Ggc>Agc	p.G606S	MTR_ENST00000535889.1_Missense_Mutation_p.G606S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	606	Pterin-binding. {ECO:0000255|PROSITE- ProRule:PRU00334}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CCCTTAGTCTGGCATGGACAT	0.393																																						uc001hyi.3		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1816-1818)GGC>AGC		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						101.0	99.0	100.0					1																	237016251		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237016251G>A	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1816G>A	1.37:g.237016251G>A	ENSP00000355536:p.Gly606Ser					MTR_uc010pxw.1_Missense_Mutation_p.G199S|MTR_uc010pxx.1_Missense_Mutation_p.G606S|MTR_uc010pxy.1_Intron	p.G606S	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	18	2239	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	606			Pterin-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.1816G>A	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	35	5.458736	0.96240	.	.	ENSG00000116984	ENST00000366577;ENST00000535889;ENST00000366576	D;D;D	0.88975	-2.45;-2.45;-2.45	5.43	5.43	0.79202	Dihydropteroate synthase-like (1);Pterin-binding (2);	0.000000	0.85682	D	0.000000	D	0.95862	0.8653	H	0.98218	4.175	0.58432	D	0.999999	P;P	0.43885	0.82;0.82	P;P	0.51170	0.661;0.661	D	0.96949	0.9693	10	0.87932	D	0	-10.9032	19.4318	0.94772	0.0:0.0:1.0:0.0	.	606;606	B7ZLW7;Q99707	.;METH_HUMAN	S	606;606;160	ENSP00000355536:G606S;ENSP00000441845:G606S;ENSP00000355535:G160S	ENSP00000355535:G160S	G	+	1	0	MTR	235082874	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	9.554000	0.98121	2.830000	0.97506	0.655000	0.94253	GGC		0.393	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2		NM_000254		18	67	0	0	0	0.004656	0	18	67		
CHRM3	1131	broad.mit.edu	37	1	240072203	240072203	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:240072203C>G	ENST00000255380.4	+	5	2231	c.1452C>G	c.(1450-1452)gtC>gtG	p.V484V		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	484					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGTCCCTGGTCAAGGAGAAGA	0.517																																						uc001hyp.2		NaN																	0				ovary(4)|skin(1)	5						c.(1450-1452)GTC>GTG		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						123.0	119.0	120.0					1																	240072203		2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072203C>G	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1452C>G	1.37:g.240072203C>G							p.V484V	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2231	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	484			Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.1452C>G	CCDS1616.1																																																																																				0.517	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2		NM_000740		19	77	0	0	0	0.002299	0	19	77		
CHRM3	1131	broad.mit.edu	37	1	240072271	240072271	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:240072271A>T	ENST00000255380.4	+	5	2299	c.1520A>T	c.(1519-1521)tAc>tTc	p.Y507F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	507	Agonist binding. {ECO:0000250}.				cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGGACCCCATACAACATCATG	0.502																																						uc001hyp.2		NaN																	0				ovary(4)|skin(1)	5						c.(1519-1521)TAC>TTC		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						159.0	137.0	145.0					1																	240072271		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072271A>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1520A>T	1.37:g.240072271A>T	ENSP00000255380:p.Tyr507Phe						p.Y507F	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2299	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	507			Helical; Name=6; (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1520A>T	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.911668	0.72983	.	.	ENSG00000133019	ENST00000255380	T	0.71341	-0.56	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81235	0.4780	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80171	-0.1493	10	0.40728	T	0.16	-19.6626	16.4473	0.83942	1.0:0.0:0.0:0.0	.	507	P20309	ACM3_HUMAN	F	507	ENSP00000255380:Y507F	ENSP00000255380:Y507F	Y	+	2	0	CHRM3	238138894	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	9.339000	0.96797	2.281000	0.76405	0.533000	0.62120	TAC		0.502	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2		NM_000740		33	106	0	0	0	0.011902	0	33	106		
OR6F1	343169	broad.mit.edu	37	1	247875858	247875858	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:247875858G>T	ENST00000302084.2	-	1	247	c.200C>A	c.(199-201)tCc>tAc	p.S67Y	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTCCAGGAAGGAGAGGTTGCT	0.478																																						uc001idj.1		NaN																	0					0						c.(199-201)TCC>TAC		olfactory receptor, family 6, subfamily F,							107.0	105.0	106.0					1																	247875858		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875858G>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.200C>A	1.37:g.247875858G>T	ENSP00000305640:p.Ser67Tyr						p.S67Y	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	200	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		67			Helical; Name=2; (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.200C>A	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	9.722	1.159834	0.21454	.	.	ENSG00000169214	ENST00000302084	T	0.12361	2.69	3.99	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000693	T	0.47930	0.1472	H	0.98111	4.15	0.09310	N	1	D	0.71674	0.998	D	0.64042	0.921	T	0.54057	-0.8350	10	0.87932	D	0	-28.8415	10.5008	0.44804	0.0978:0.0:0.9022:0.0	.	67	Q8NGZ6	OR6F1_HUMAN	Y	67	ENSP00000305640:S67Y	ENSP00000305640:S67Y	S	-	2	0	OR6F1	245942481	0.001000	0.12720	0.306000	0.25113	0.010000	0.07245	0.913000	0.28611	1.011000	0.39340	0.591000	0.81541	TCC		0.478	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1		NM_001005286		8	65	1	0	1.76689e-08	0.006214	1.85901e-08	8	65		
OR2T10	127069	broad.mit.edu	37	1	248756394	248756394	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:248756394G>C	ENST00000330500.2	-	1	706	c.676C>G	c.(676-678)Cat>Gat	p.H226D	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			TTCATCTTATGGATGGTGAGG	0.443																																						uc010pzn.1		NaN																	0				skin(1)	1						c.(676-678)CAT>GAT		olfactory receptor, family 2, subfamily T,							91.0	87.0	89.0					1																	248756394		2050	4235	6285	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756394G>C		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.676C>G	1.37:g.248756394G>C	ENSP00000329210:p.His226Asp						p.H226D	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	676	-	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)		226			Cytoplasmic (Potential).		B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.676C>G	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	5.545	0.285465	0.10513	.	.	ENSG00000184022	ENST00000330500	T	0.00091	8.74	2.35	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	L	0.50333	1.59	0.09310	N	1	P	0.37276	0.589	P	0.45610	0.487	T	0.26395	-1.0104	9	0.59425	D	0.04	.	6.5247	0.22295	0.2714:0.0:0.7286:0.0	.	226	Q8NGZ9	O2T10_HUMAN	D	226	ENSP00000329210:H226D	ENSP00000329210:H226D	H	-	1	0	OR2T10	246823017	0.000000	0.05858	0.860000	0.33809	0.086000	0.17979	-0.735000	0.04888	1.123000	0.41961	0.447000	0.29281	CAT		0.443	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1		NM_001004693		22	78	0	0	0	0.00632	0	22	78		
FBXO18	84893	broad.mit.edu	37	10	5951204	5951204	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:5951204G>A	ENST00000362091.4	+	5	1082	c.967G>A	c.(967-969)Gag>Aag	p.E323K	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.E374K	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	323					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCTCCTCCCCGAGGCTGAGGC	0.617																																						uc001iis.2		NaN																	0				ovary(2)|skin(1)	3						c.(967-969)GAG>AAG		F-box only protein, helicase, 18 isoform 2							66.0	61.0	63.0					10																	5951204		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5951204G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.967G>A	10.37:g.5951204G>A	ENSP00000355415:p.Glu323Lys					FBXO18_uc001iir.2_Missense_Mutation_p.E249K|FBXO18_uc009xig.2_Missense_Mutation_p.E249K|FBXO18_uc001iit.2_Missense_Mutation_p.E374K	p.E323K	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			5	1062	+			323					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.967G>A	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	1.830	-0.470139	0.04445	.	.	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	4.99	3.01	0.34805	.	0.426470	0.26553	N	0.023734	T	0.21881	0.0527	N	0.08118	0	0.53688	D	0.999975	B;B;B	0.18863	0.031;0.006;0.006	B;B;B	0.08055	0.003;0.001;0.001	T	0.26258	-1.0108	9	0.02654	T	1	-19.2105	5.0657	0.14582	0.1532:0.366:0.4808:0.0	.	374;323;249	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	K	323;60;374;60	.	ENSP00000355415:E323K	E	+	1	0	FBXO18	5991210	0.995000	0.38212	0.987000	0.45799	0.177000	0.22998	2.875000	0.48491	2.478000	0.83669	0.561000	0.74099	GAG		0.617	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1		NM_032807		50	22	0	0	0	0.00361	0	50	22		
BEND7	222389	broad.mit.edu	37	10	13481367	13481367	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:13481367G>A	ENST00000396900.2	-	9	1364	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000341083.3_Silent_p.L404L			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	455						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TCAGGAGCACGAGATGCTGCT	0.527																																						uc001imm.2		NaN																	0				ovary(1)|breast(1)	2						c.(1210-1212)CTC>CTT		BEN domain containing 7 isoform 1							201.0	179.0	186.0					10																	13481367		2203	4300	6503	SO:0001819	synonymous_variant	222389						protein binding	g.chr10:13481367G>A	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1365C>T	10.37:g.13481367G>A						BEND7_uc001iml.2_RNA	p.L404L	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN			9	1509	-			455					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37	c.1212C>T																																																																																					0.527	BEND7-202	KNOWN	basic	protein_coding	protein_coding			NM_152751		13	41	0	0	0	0.00245	0	13	41		
FAM188A	80013	broad.mit.edu	37	10	15875631	15875631	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:15875631A>G	ENST00000277632.3	-	8	948	c.728T>C	c.(727-729)aTg>aCg	p.M243T	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	243					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						ATACTTACTCATTCCTGAGCA	0.328																																					Pancreas(159;946 1953 2111 4475 22008)	uc001iod.1		NaN																	0				ovary(1)	1						c.(727-729)ATG>ACG		chromosome 10 open reading frame 97							101.0	95.0	97.0					10																	15875631		2203	4299	6502	SO:0001583	missense	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15875631A>G	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.728T>C	10.37:g.15875631A>G	ENSP00000277632:p.Met243Thr					FAM188A_uc001ioe.1_Missense_Mutation_p.M70T|FAM188A_uc001iof.1_Missense_Mutation_p.M243T	p.M243T	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN			8	949	-			243					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	c.728T>C	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937060	0.52972	.	.	ENSG00000148481	ENST00000277632;ENST00000418767;ENST00000436829	T;T;T	0.29397	1.57;1.57;1.57	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	L	0.35723	1.085	0.80722	D	1	P	0.51791	0.948	P	0.54965	0.765	T	0.18272	-1.0342	10	0.54805	T	0.06	-5.7227	15.8509	0.78930	1.0:0.0:0.0:0.0	.	243	Q9H8M7	F188A_HUMAN	T	243;83;96	ENSP00000277632:M243T;ENSP00000388661:M83T;ENSP00000389883:M96T	ENSP00000277632:M243T	M	-	2	0	FAM188A	15915637	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.564000	0.90726	2.148000	0.66965	0.455000	0.32223	ATG		0.328	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2		NM_024948		49	25	0	0	0	0.00361	0	49	25		
ABI1	10006	broad.mit.edu	37	10	27052865	27052865	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:27052865G>T	ENST00000376142.2	-	8	916	c.845C>A	c.(844-846)tCt>tAt	p.S282Y	ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000376139.2_Intron|ABI1_ENST00000346832.5_Missense_Mutation_p.S299Y|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000359188.4_Intron|ABI1_ENST00000376160.1_Intron|ABI1_ENST00000376170.4_Intron|ABI1_ENST00000376134.3_Intron|ABI1_ENST00000355394.4_Missense_Mutation_p.S283Y|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376140.3_Intron|ABI1_ENST00000376137.4_Intron	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	282	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGAGCTCCAGAAGGAGGAGG	0.413																																						uc001isx.2		NaN																	0				central_nervous_system(1)	1						c.(844-846)TCT>TAT		abl-interactor 1 isoform a							92.0	99.0	97.0					10																	27052865		2203	4300	6503	SO:0001583	missense	10006				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	g.chr10:27052865G>T	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.845C>A	10.37:g.27052865G>T	ENSP00000365312:p.Ser282Tyr					ABI1_uc001ite.2_Intron|ABI1_uc010qdh.1_Intron|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Intron|ABI1_uc001ita.2_Intron|ABI1_uc001isz.2_Intron|ABI1_uc001itb.2_Missense_Mutation_p.S299Y|ABI1_uc001itc.2_Intron|ABI1_uc010qdj.1_Intron|ABI1_uc001itd.2_Intron|ABI1_uc010qdk.1_Intron|ABI1_uc010qdg.1_Intron	p.S282Y	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN			8	1012	-			282			Pro-rich.		A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	37	c.845C>A	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446917	0.43429	.	.	ENSG00000136754	ENST00000376142;ENST00000355394;ENST00000346832	T;T;T	0.39787	1.06;1.16;1.15	4.57	4.57	0.56435	.	0.458933	0.15763	U	0.245818	T	0.32071	0.0817	N	0.19112	0.55	0.80722	D	1	B;P	0.44877	0.187;0.845	B;B	0.40782	0.084;0.34	T	0.22417	-1.0217	10	0.52906	T	0.07	-2.6828	15.1359	0.72566	0.0:0.0:1.0:0.0	.	299;282	B3KX62;Q8IZP0	.;ABI1_HUMAN	Y	282;283;299	ENSP00000365312:S282Y;ENSP00000347555:S283Y;ENSP00000279599:S299Y	ENSP00000279599:S299Y	S	-	2	0	ABI1	27092871	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.103000	0.50298	2.087000	0.62958	0.467000	0.42956	TCT		0.413	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1		NM_005470		21	41	1	0	2.98393e-07	0.00278	3.11978e-07	21	41		
ARHGAP12	94134	broad.mit.edu	37	10	32197606	32197606	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:32197606T>C	ENST00000344936.2	-	3	412	c.178A>G	c.(178-180)Aaa>Gaa	p.K60E	ARHGAP12_ENST00000311380.4_Missense_Mutation_p.K60E|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.K60E|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.K60E|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.K60E	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	60	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TAAAACGCTTTGGAGTTTTCA	0.468																																						uc001ivz.1		NaN																	0					0						c.(178-180)AAA>GAA		Rho GTPase activating protein 12							149.0	126.0	134.0					10																	32197606		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32197606T>C	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.178A>G	10.37:g.32197606T>C	ENSP00000345808:p.Lys60Glu					ARHGAP12_uc001ivy.1_Missense_Mutation_p.K58E|ARHGAP12_uc009xls.2_Missense_Mutation_p.K58E|ARHGAP12_uc001iwb.1_Missense_Mutation_p.K58E|ARHGAP12_uc001iwc.1_Missense_Mutation_p.K58E|ARHGAP12_uc009xlq.1_Missense_Mutation_p.K58E|ARHGAP12_uc001iwd.1_Missense_Mutation_p.K58E|ARHGAP12_uc009xlr.1_Missense_Mutation_p.K58E	p.K60E	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN			3	448	-		Prostate(175;0.0199)	60			SH3.		B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.178A>G	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.989917	0.93106	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.83	5.83	0.93111	Src homology-3 domain (4);	0.092146	0.64402	D	0.000001	T	0.68210	0.2976	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D;D	0.63046	0.992;0.992;0.99;0.992;0.992;0.99	P;P;P;P;P;P	0.62649	0.905;0.905;0.661;0.905;0.905;0.846	T	0.72472	-0.4283	10	0.72032	D	0.01	.	16.1946	0.82018	0.0:0.0:0.0:1.0	.	60;60;60;60;60;60	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	E	60	ENSP00000310984:K60E;ENSP00000364399:K60E;ENSP00000345808:K60E;ENSP00000379448:K60E;ENSP00000364394:K60E	ENSP00000310984:K60E	K	-	1	0	ARHGAP12	32237612	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	7.621000	0.83083	2.228000	0.72767	0.528000	0.53228	AAA		0.468	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1				10	6	0	0	0	0.008291	0	10	6		
ITGB1	3688	broad.mit.edu	37	10	33211203	33211203	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:33211203C>T	ENST00000396033.2	-	9	1245	c.1110G>A	c.(1108-1110)ttG>ttA	p.L370L	ITGB1_ENST00000423113.1_Silent_p.L370L|ITGB1_ENST00000374956.4_Silent_p.L370L|ITGB1_ENST00000302278.3_Silent_p.L370L	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	370	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CATCAATGATCAACTGAATTA	0.323																																						uc001iws.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1108-1110)TTG>TTA		integrin beta 1 isoform 1A precursor							165.0	149.0	155.0					10																	33211203		2203	4300	6503	SO:0001819	synonymous_variant	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33211203C>T	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1110G>A	10.37:g.33211203C>T						ITGB1_uc001iwp.3_Silent_p.L370L|ITGB1_uc001iwq.3_Silent_p.L370L|ITGB1_uc001iwr.3_Silent_p.L370L|ITGB1_uc001iwt.3_Silent_p.L370L|ITGB1_uc001iwu.1_Silent_p.L370L	p.L370L	NM_133376	NP_596867	P05556	ITB1_HUMAN			9	1246	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	370			Extracellular (Potential).|VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Silent	SNP	ENST00000396033.2	37	c.1110G>A	CCDS7174.1																																																																																				0.323	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1		NM_002211		28	84	0	0	0	0.00623	0	28	84		
SLC18A3	6572	broad.mit.edu	37	10	50820268	50820268	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:50820268C>T	ENST00000374115.3	+	1	1922	c.1482C>T	c.(1480-1482)taC>taT	p.Y494Y	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000337653.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	494					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						AAGGTCTGTACGATGCGGTGC	0.647																																						uc001jhw.2		NaN																	0				ovary(2)	2						c.(1480-1482)TAC>TAT		vesicular acetylcholine transporter							64.0	62.0	63.0					10																	50820268		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820268C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1482C>T	10.37:g.50820268C>T						CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.Y494Y	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1922	+			494			Cytoplasmic (Potential).		B2R7S1	Silent	SNP	ENST00000374115.3	37	c.1482C>T	CCDS7231.1																																																																																				0.647	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1		NM_003055		17	25	0	0	0	0.010504	0	17	25		
PCDH15	65217	broad.mit.edu	37	10	55782693	55782693	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:55782693C>T	ENST00000320301.6	-	19	2879	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K	PCDH15_ENST00000395432.2_Missense_Mutation_p.E792K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E834K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E829K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E829K|PCDH15_ENST00000373965.2_Missense_Mutation_p.E836K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.E829K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E829K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E440K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E807K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E836K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E758K|PCDH15_ENST00000395446.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	829	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAATTCTCTTCAACAAGGACA	0.408										HNSCC(58;0.16)																												uc001jju.1		NaN																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2485-2487)GAA>AAA		protocadherin 15 isoform CD1-4 precursor							165.0	149.0	155.0					10																	55782693		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55782693C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2485G>A	10.37:g.55782693C>T	ENSP00000322604:p.Glu829Lys	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.E834K|PCDH15_uc010qhr.1_Missense_Mutation_p.E829K|PCDH15_uc010qhs.1_Missense_Mutation_p.E841K|PCDH15_uc010qht.1_Missense_Mutation_p.E836K|PCDH15_uc010qhu.1_Missense_Mutation_p.E829K|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.E829K|PCDH15_uc010qhw.1_Missense_Mutation_p.E792K|PCDH15_uc010qhx.1_Missense_Mutation_p.E758K|PCDH15_uc010qhy.1_Missense_Mutation_p.E834K|PCDH15_uc010qhz.1_Missense_Mutation_p.E829K|PCDH15_uc010qia.1_Missense_Mutation_p.E807K|PCDH15_uc010qib.1_Missense_Mutation_p.E807K|PCDH15_uc001jjw.2_Missense_Mutation_p.E829K	p.E829K	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			19	2880	-		Melanoma(3;0.117)|Lung SC(717;0.238)	829			Extracellular (Potential).|Cadherin 8.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2485G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153304	0.57259	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.52	4.56	0.56223	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.41811	0.1175	N	0.05031	-0.125	0.34553	D	0.71148	P;P;P;B;D;P;P;P;P;P;P;P;P;P	0.60160	0.939;0.873;0.873;0.132;0.987;0.873;0.939;0.542;0.772;0.772;0.542;0.542;0.486;0.873	P;P;P;B;P;P;P;P;P;P;B;P;B;P	0.59288	0.777;0.484;0.484;0.186;0.855;0.602;0.777;0.566;0.602;0.602;0.348;0.566;0.199;0.602	T	0.51490	-0.8699	9	0.34782	T	0.22	.	13.4566	0.61201	0.0:0.6852:0.3148:0.0	.	807;829;829;834;758;792;829;829;836;836;829;834;829;829	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	836;834;829;829;440;836;792;829;807;829;829;834;758;829	ENSP00000363076:E836K;ENSP00000410304:E834K;ENSP00000378826:E829K;ENSP00000386693:E440K;ENSP00000378832:E836K;ENSP00000378820:E792K;ENSP00000354950:E829K;ENSP00000378821:E807K;ENSP00000322604:E829K;ENSP00000378818:E829K;ENSP00000412628:E758K;ENSP00000363066:E829K	ENSP00000322604:E829K	E	-	1	0	PCDH15	55452699	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	6.964000	0.76061	2.757000	0.94681	0.585000	0.79938	GAA		0.408	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2		NM_033056		99	5	0	0	0	0.00361	0	99	5		
DNA2	1763	broad.mit.edu	37	10	70206090	70206090	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:70206090C>T	ENST00000358410.3	-	7	1070	c.1020G>A	c.(1018-1020)caG>caA	p.Q340Q	DNA2_ENST00000399180.2_Silent_p.Q426Q|DNA2_ENST00000399179.2_Silent_p.Q340Q	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	340	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CAGGGTACATCTGACCAGTCT	0.453																																						uc001jof.2		NaN																	0					0						c.(1276-1278)CAG>CAA		DNA replication helicase 2 homolog							71.0	68.0	69.0					10																	70206090		1885	4112	5997	SO:0001819	synonymous_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70206090C>T	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1020G>A	10.37:g.70206090C>T						DNA2_uc001jog.1_Silent_p.Q340Q|DNA2_uc001joh.1_RNA	p.Q426Q	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN			7	1278	-			340					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37	c.1278G>A																																																																																					0.453	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2				5	4	0	0	0	0.001168	0	5	4		
TSPAN14	81619	broad.mit.edu	37	10	82269119	82269119	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:82269119G>A	ENST00000429989.3	+	5	565	c.342G>A	c.(340-342)ctG>ctA	p.L114L	TSPAN14_ENST00000372164.3_Silent_p.L97L|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000341863.6_Intron|TSPAN14_ENST00000372158.1_Silent_p.L114L|TSPAN14_ENST00000372156.1_Silent_p.L114L	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	114					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TGGCCTTCCTGTTCCAGGACT	0.592																																						uc001kcj.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(340-342)CTG>CTA		tetraspanin 14 isoform 1							113.0	92.0	99.0					10																	82269119		2203	4300	6503	SO:0001819	synonymous_variant	81619					integral to membrane		g.chr10:82269119G>A	AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.342G>A	10.37:g.82269119G>A						TSPAN14_uc009xss.2_Intron|TSPAN14_uc001kci.3_Silent_p.L97L	p.L114L	NM_030927	NP_112189	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		5	449	+			114					A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Silent	SNP	ENST00000429989.3	37	c.342G>A	CCDS7369.1																																																																																				0.592	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2		NM_030927		20	16	0	0	0	0.00278	0	20	16		
PDCD4	27250	broad.mit.edu	37	10	112650398	112650398	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:112650398G>C	ENST00000280154.7	+	8	1234	c.960G>C	c.(958-960)ggG>ggC	p.G320G	PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000393104.2_Silent_p.G309G	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	320					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGGAGGTGGGCAGCAATCTG	0.398																																					Ovarian(115;1498 1603 9363 40056 40885)	uc001kzh.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(958-960)GGG>GGC		programmed cell death 4 isoform 1							184.0	182.0	183.0					10																	112650398		2203	4300	6503	SO:0001819	synonymous_variant	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112650398G>C	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.960G>C	10.37:g.112650398G>C						PDCD4_uc001kzg.2_Silent_p.G309G|PDCD4_uc010qre.1_Silent_p.G306G	p.G320G	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	8	1203	+		Breast(234;0.0848)|Lung NSC(174;0.238)	320					B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Silent	SNP	ENST00000280154.7	37	c.960G>C	CCDS7567.1																																																																																				0.398	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1		NM_014456		15	25	0	0	0	0.00278	0	15	25		
PNLIP	5406	broad.mit.edu	37	10	118327270	118327270	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:118327270C>T	ENST00000369221.2	+	13	1386	c.1358C>T	c.(1357-1359)aCc>aTc	p.T453I		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	453	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	AGTCCAGAAACCGTCAGGGAG	0.433																																						uc001lcm.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1357-1359)ACC>ATC		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						181.0	164.0	170.0					10																	118327270		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118327270C>T	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1358C>T	10.37:g.118327270C>T	ENSP00000358223:p.Thr453Ile						p.T453I	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	13	1401	+			453			PLAT.		Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.1358C>T	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	6.477	0.456116	0.12283	.	.	ENSG00000175535	ENST00000369221	T	0.64991	-0.13	5.52	4.62	0.57501	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.085246	0.50627	D	0.000106	T	0.67429	0.2892	M	0.84219	2.685	0.22521	N	0.999023	P	0.37423	0.594	B	0.41412	0.356	T	0.62868	-0.6763	10	0.41790	T	0.15	.	11.8639	0.52482	0.0:0.9177:0.0:0.0823	.	453	P16233	LIPP_HUMAN	I	453	ENSP00000358223:T453I	ENSP00000358223:T453I	T	+	2	0	PNLIP	118317260	0.977000	0.34250	0.028000	0.17463	0.000000	0.00434	4.573000	0.60893	1.486000	0.48398	-0.136000	0.14681	ACC		0.433	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1		NM_000936		27	3	0	0	0	0.004878	0	27	3		
PNLIPRP1	5407	broad.mit.edu	37	10	118352009	118352009	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:118352009T>A	ENST00000528052.1	+	4	357	c.286T>A	c.(286-288)Ttc>Atc	p.F96I	PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.F96I|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.F96I|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.F96I			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	96					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CATCCATGGCTTCATAGACAA	0.488																																						uc001lco.1		NaN																	0				ovary(1)|breast(1)	2						c.(286-288)TTC>ATC		pancreatic lipase-related protein 1 precursor							114.0	112.0	113.0					10																	118352009		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118352009T>A	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.286T>A	10.37:g.118352009T>A	ENSP00000433933:p.Phe96Ile					PNLIPRP1_uc001lcp.2_Missense_Mutation_p.F96I|PNLIPRP1_uc001lcn.2_Missense_Mutation_p.F96I|PNLIPRP1_uc009xys.1_RNA	p.F96I	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	4	304	+			96					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.286T>A	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.811129	0.90707	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000442761;ENST00000530319;ENST00000527980;ENST00000471549;ENST00000534537	D;D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-2.9;-3.16;-3.16;-3.16	5.21	5.21	0.72293	Lipase, N-terminal (1);	0.147913	0.47455	D	0.000223	D	0.97785	0.9273	H	0.96748	3.875	0.44579	D	0.997542	D;D	0.71674	0.998;0.997	D;D	0.81914	0.995;0.981	D	0.99044	1.0825	10	0.87932	D	0	-14.3086	14.3502	0.66697	0.0:0.0:0.0:1.0	.	96;96	P54315;P54315-2	LIPR1_HUMAN;.	I	96	ENSP00000436123:F96I;ENSP00000351695:F96I;ENSP00000433933:F96I;ENSP00000400963:F96I;ENSP00000437263:F96I;ENSP00000433785:F96I;ENSP00000431207:F96I;ENSP00000434159:F96I	ENSP00000351695:F96I	F	+	1	0	PNLIPRP1	118341999	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.235000	0.72332	2.088000	0.63022	0.533000	0.62120	TTC		0.488	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1		NM_006229		49	3	0	0	0	0.00361	0	49	3		
EIF3A	8661	broad.mit.edu	37	10	120802195	120802195	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:120802195C>G	ENST00000369144.3	-	19	2964	c.2837G>C	c.(2836-2838)aGa>aCa	p.R946T	EIF3A_ENST00000541549.1_Missense_Mutation_p.R912T	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	113					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.R946T(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGAGGGCTCTCTATCTTCATC	0.567																																						uc001ldu.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(2836-2838)AGA>ACA		eukaryotic translation initiation factor 3,							131.0	137.0	135.0					10																	120802195		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120802195C>G	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2837G>C	10.37:g.120802195C>G	ENSP00000358140:p.Arg946Thr					EIF3A_uc010qsu.1_Missense_Mutation_p.R912T|EIF3A_uc009xzg.1_5'UTR	p.R946T	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	2983	-		Lung NSC(174;0.094)|all_lung(145;0.123)	946			3.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.2837G>C	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581912	0.46006	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.26067	1.76;1.83	6.16	5.26	0.73747	.	0.162067	0.28659	N	0.014576	T	0.27731	0.0682	M	0.68952	2.095	0.43531	D	0.995811	B	0.23650	0.089	B	0.16289	0.015	T	0.02444	-1.1158	10	0.41790	T	0.15	-15.5933	12.3488	0.55136	0.0:0.8747:0.0:0.1253	.	946	Q14152	EIF3A_HUMAN	T	946;912	ENSP00000358140:R946T;ENSP00000438178:R912T	ENSP00000358140:R946T	R	-	2	0	EIF3A	120792185	0.968000	0.33430	1.000000	0.80357	0.270000	0.26580	1.019000	0.30014	2.937000	0.99478	0.650000	0.86243	AGA		0.567	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1		NM_003750		84	2	0	0	0	0.00361	0	84	2		
DMBT1	1755	broad.mit.edu	37	10	124357509	124357509	+	Silent	SNP	C	C	G	rs191982005		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:124357509C>G	ENST00000338354.3	+	25	3043	c.2937C>G	c.(2935-2937)acC>acG	p.T979T	DMBT1_ENST00000330163.4_Silent_p.T480T|DMBT1_ENST00000344338.3_Silent_p.T969T|DMBT1_ENST00000368955.3_Silent_p.T969T|DMBT1_ENST00000368909.3_Silent_p.T979T|DMBT1_ENST00000368956.2_Silent_p.T480T|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	979					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGACCATCACCTTGCCTGCAT	0.453													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21942	0.0		0.0	False		,,,				2504	0.0				Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NaN																	0				central_nervous_system(7)	7						c.(2935-2937)ACC>ACG		deleted in malignant brain tumors 1 isoform b							217.0	204.0	208.0					10																	124357509		1940	4131	6071	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124357509C>G		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2937C>G	10.37:g.124357509C>G						DMBT1_uc001lgl.1_Silent_p.T969T|DMBT1_uc001lgm.1_Silent_p.T480T|DMBT1_uc009xzz.1_Silent_p.T979T|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	p.T979T	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			25	3043	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	979					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.2937C>G																																																																																					0.453	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2		NM_004406		122	5	0	0	0	0.00361	0	122	5		
OR51G2	81282	broad.mit.edu	37	11	4936589	4936589	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:4936589C>T	ENST00000322013.3	-	1	333	c.305G>A	c.(304-306)tGc>tAc	p.C102Y	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGAGCAAAGCAGGCATCATG	0.522																																						uc001lzr.1		NaN																	0				skin(2)	2						c.(304-306)TGC>TAC		olfactory receptor, family 51, subfamily G,							99.0	89.0	93.0					11																	4936589		2201	4298	6499	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936589C>T	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.305G>A	11.37:g.4936589C>T	ENSP00000322593:p.Cys102Tyr						p.C102Y	NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	305	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	102			Extracellular (Potential).		Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.305G>A	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124575	0.77436	.	.	ENSG00000176893	ENST00000322013	T	0.63580	-0.05	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	D	0.89629	0.6770	H	0.99800	4.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93898	0.7186	10	0.87932	D	0	.	18.3106	0.90199	0.0:1.0:0.0:0.0	.	102	Q8NGK0	O51G2_HUMAN	Y	102	ENSP00000322593:C102Y	ENSP00000322593:C102Y	C	-	2	0	OR51G2	4893165	0.998000	0.40836	0.989000	0.46669	0.796000	0.44982	5.719000	0.68462	2.906000	0.99361	0.655000	0.94253	TGC		0.522	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1		NM_001005238		4	11	0	0	0	0.009096	0	4	11		
OR52E6	390078	broad.mit.edu	37	11	5863035	5863035	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:5863035G>C	ENST00000329322.5	-	1	92	c.93C>G	c.(91-93)ttC>ttG	p.F31L	OR52E6_ENST00000379946.2_Missense_Mutation_p.F35L|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAAAAAGGGAATCCAATCC	0.458																																						uc010qzq.1		NaN																	0				central_nervous_system(1)	1						c.(91-93)TTC>TTG		olfactory receptor, family 52, subfamily E,							114.0	114.0	114.0					11																	5863035		2200	4296	6496	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5863035G>C	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.93C>G	11.37:g.5863035G>C	ENSP00000328878:p.Phe31Leu					TRIM5_uc001mbq.1_Intron	p.F31L	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	93	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	31			Helical; Name=1; (Potential).		Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.93C>G	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	G	0.802	-0.754965	0.03041	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00026	8.94;8.94	3.64	-4.49	0.03504	.	0.217098	0.32430	N	0.006108	T	0.00039	0.0001	N	0.05554	-0.025	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.25641	-1.0126	10	0.14252	T	0.57	.	8.4051	0.32610	0.6798:0.0:0.2004:0.1197	.	31	Q96RD3	O52E6_HUMAN	L	31;35	ENSP00000328878:F31L;ENSP00000369279:F35L	ENSP00000328878:F31L	F	-	3	2	OR52E6	5819611	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.484000	0.00980	-1.029000	0.03317	-0.269000	0.10298	TTC		0.458	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1		NM_001005167		13	35	0	0	0	0.012319	0	13	35		
IPO7	10527	broad.mit.edu	37	11	9450663	9450663	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:9450663G>A	ENST00000379719.3	+	14	1653	c.1511G>A	c.(1510-1512)tGt>tAt	p.C504Y	CTD-2371O3.2_ENST00000531111.1_RNA|SNORA23_ENST00000365128.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	504					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACAAGAAGATGTCTGATTGAT	0.378																																						uc001mho.2		NaN																	0				lung(1)|breast(1)	2						c.(1510-1512)TGT>TAT		importin 7							86.0	84.0	84.0					11																	9450663		2201	4295	6496	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9450663G>A	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1511G>A	11.37:g.9450663G>A	ENSP00000369042:p.Cys504Tyr						p.C504Y	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	14	1653	+			504					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.1511G>A	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850735	0.91277	.	.	ENSG00000205339	ENST00000379719	T	0.66995	-0.24	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.040450	0.85682	N	0.000000	T	0.75525	0.3861	M	0.70595	2.14	0.80722	D	1	P	0.50819	0.939	P	0.53593	0.73	T	0.68205	-0.5470	10	0.08599	T	0.76	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	504	O95373	IPO7_HUMAN	Y	504	ENSP00000369042:C504Y	ENSP00000369042:C504Y	C	+	2	0	IPO7	9407239	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGT		0.378	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1		NM_006391		18	4	0	0	0	0.005443	0	18	4		
DKK3	27122	broad.mit.edu	37	11	11987391	11987391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:11987391G>T	ENST00000396505.2	-	7	1033	c.795C>A	c.(793-795)tgC>tgA	p.C265*	DKK3_ENST00000525493.1_Nonsense_Mutation_p.C265*|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000326932.4_Nonsense_Mutation_p.C265*|DKK3_ENST00000450094.2_Nonsense_Mutation_p.C237*	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	265	DKK-type Cys-2.				adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		TGGCACAAGGGCATCGGTCCA	0.672																																						uc001mju.2		NaN																	0				breast(1)	1						c.(793-795)TGC>TGA		dickkopf homolog 3 precursor							67.0	65.0	66.0					11																	11987391		2201	4294	6495	SO:0001587	stop_gained	27122				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space		g.chr11:11987391G>T	AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.795C>A	11.37:g.11987391G>T	ENSP00000379762:p.Cys265*					DKK3_uc010rcf.1_Nonsense_Mutation_p.C237*|DKK3_uc001mjv.2_Nonsense_Mutation_p.C265*|DKK3_uc001mjw.2_Nonsense_Mutation_p.C265*|DKK3_uc010rcg.1_Nonsense_Mutation_p.C265*	p.C265*	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN		Epithelial(150;0.000502)	6	852	-			265			DKK-type Cys-2.		A8K1I2|D3DQW1|Q9ULB7	Nonsense_Mutation	SNP	ENST00000396505.2	37	c.795C>A	CCDS7808.1	.	.	.	.	.	.	.	.	.	.	G	36	5.658475	0.96734	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000450094;ENST00000326914	.	.	.	5.65	3.79	0.43588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.8329	10.3522	0.43943	0.2141:0.0:0.7859:0.0	.	.	.	.	X	265;265;208;265;237;109	.	ENSP00000314730:C109X	C	-	3	2	DKK3	11943967	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	0.941000	0.29005	0.746000	0.32786	-0.140000	0.14226	TGC		0.672	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1		NM_013253		21	1	1	0	1.75199e-13	0.007291	1.91912e-13	21	1		
DKK3	27122	broad.mit.edu	37	11	12020244	12020244	+	Splice_Site	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:12020244T>A	ENST00000396505.2	-	4	672	c.434A>T	c.(433-435)cAc>cTc	p.H145L	DKK3_ENST00000525493.1_Splice_Site_p.H145L|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000326932.4_Splice_Site_p.H145L|DKK3_ENST00000450094.2_Intron	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	145					adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		ACAACTTACGTGGCTCCTTCT	0.473																																						uc001mju.2		NaN																	0				breast(1)	1						c.(433-435)CAC>CTC		dickkopf homolog 3 precursor							249.0	205.0	220.0					11																	12020244		2201	4294	6495	SO:0001630	splice_region_variant	27122				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space		g.chr11:12020244T>A	AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.435+1A>T	11.37:g.12020244T>A						DKK3_uc010rcf.1_Intron|DKK3_uc001mjv.2_Missense_Mutation_p.H145L|DKK3_uc001mjw.2_Missense_Mutation_p.H145L|DKK3_uc010rcg.1_Missense_Mutation_p.H145L	p.H145L	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN		Epithelial(150;0.000502)	3	491	-			145					A8K1I2|D3DQW1|Q9ULB7	Missense_Mutation	SNP	ENST00000396505.2	37	c.434A>T	CCDS7808.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.120945	0.37436	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000533813	T;T;T;T	0.24350	2.16;2.16;2.14;1.86	4.99	4.99	0.66335	.	0.048512	0.85682	D	0.000000	T	0.31071	0.0785	L	0.55481	1.735	0.80722	D	1	P;P	0.41848	0.763;0.651	P;B	0.44897	0.463;0.15	T	0.06661	-1.0814	10	0.59425	D	0.04	-26.4817	12.3088	0.54918	0.0:0.0:0.0:1.0	.	145;145	F6SYF8;Q9UBP4	.;DKK3_HUMAN	L	145;145;88;145;145	ENSP00000379762:H145L;ENSP00000314910:H145L;ENSP00000433112:H145L;ENSP00000435269:H145L	ENSP00000314910:H145L	H	-	2	0	DKK3	11976820	1.000000	0.71417	0.967000	0.41034	0.136000	0.21042	2.626000	0.46460	2.106000	0.64143	0.533000	0.62120	CAC		0.473	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1		NM_013253	Missense_Mutation	32	1	0	0	0	0.003755	0	32	1		
MICAL2	9645	broad.mit.edu	37	11	12247859	12247859	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:12247859G>A	ENST00000256194.4	+	14	2118	c.1830G>A	c.(1828-1830)atG>atA	p.M610I	MICAL2_ENST00000379612.3_Missense_Mutation_p.M610I|MICAL2_ENST00000342902.5_Missense_Mutation_p.M610I|MICAL2_ENST00000537344.1_Missense_Mutation_p.M610I|MICAL2_ENST00000527546.1_Missense_Mutation_p.M610I	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	610	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGCTCAGCATGGTCATGTACC	0.582																																						uc001mjz.2		NaN																	0				upper_aerodigestive_tract(2)	2						c.(1828-1830)ATG>ATA		microtubule associated monoxygenase, calponin							124.0	105.0	112.0					11																	12247859		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12247859G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1830G>A	11.37:g.12247859G>A	ENSP00000256194:p.Met610Ile					MICAL2_uc010rch.1_Missense_Mutation_p.M610I|MICAL2_uc001mka.2_Missense_Mutation_p.M610I|MICAL2_uc010rci.1_Missense_Mutation_p.M610I|MICAL2_uc001mkb.2_Missense_Mutation_p.M610I|MICAL2_uc001mkc.2_Missense_Mutation_p.M610I|MICAL2_uc001mkd.2_Missense_Mutation_p.M439I|MICAL2_uc010rcj.1_Missense_Mutation_p.M12I	p.M610I	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	14	2118	+			610			CH.		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.1830G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949342	0.53186	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.28	2.24	0.28232	Calponin homology domain (5);	0.160882	0.53938	N	0.000053	T	0.38081	0.1027	N	0.20881	0.62	0.58432	D	0.999992	B;B;B;B;B;B	0.13594	0.0;0.001;0.001;0.008;0.001;0.002	B;B;B;B;B;B	0.32342	0.009;0.01;0.019;0.131;0.028;0.144	T	0.10268	-1.0637	10	0.39692	T	0.17	.	7.3647	0.26766	0.1596:0.1372:0.7032:0.0	.	143;610;610;610;610;610	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	I	610;143;610;610;610;610	ENSP00000441689:M610I;ENSP00000256194:M610I;ENSP00000433965:M610I;ENSP00000344894:M610I;ENSP00000368932:M610I	ENSP00000256194:M610I	M	+	3	0	MICAL2	12204435	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.841000	0.62824	0.176000	0.19873	0.563000	0.77884	ATG		0.582	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1		NM_014632		47	7	0	0	0	0.00361	0	47	7		
PDE3B	5140	broad.mit.edu	37	11	14856593	14856593	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:14856593C>T	ENST00000282096.4	+	11	2625	c.2272C>T	c.(2272-2274)Cct>Tct	p.P758S	PDE3B_ENST00000455098.2_Missense_Mutation_p.P707S	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	758	Catalytic. {ECO:0000250}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	ACGGCCAGTTCCTGGCTTACA	0.383																																						uc001mln.2		NaN																	0					0						c.(2272-2274)CCT>TCT		phosphodiesterase 3B							143.0	115.0	124.0					11																	14856593		2200	4294	6494	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14856593C>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2272C>T	11.37:g.14856593C>T	ENSP00000282096:p.Pro758Ser					PDE3B_uc010rcr.1_Missense_Mutation_p.P707S	p.P758S	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			11	2625	+			758			Catalytic (By similarity).		B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.2272C>T	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003760	0.93287	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.76448	-1.02;-1.02	5.64	5.64	0.86602	Metal-dependent phosphohydrolase, HD domain (1);	0.174792	0.37483	U	0.002065	D	0.87426	0.6174	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87753	0.2593	10	0.72032	D	0.01	.	19.6876	0.95986	0.0:1.0:0.0:0.0	.	707;758	B7ZM37;Q13370	.;PDE3B_HUMAN	S	758;707	ENSP00000282096:P758S;ENSP00000388644:P707S	ENSP00000282096:P758S	P	+	1	0	PDE3B	14813169	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.371000	0.79600	2.657000	0.90304	0.585000	0.79938	CCT		0.383	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1		NM_000922		41	40	0	0	0	0.00361	0	41	40		
LDHC	3948	broad.mit.edu	37	11	18434294	18434294	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:18434294G>A	ENST00000541669.1	+	2	141	c.30G>A	c.(28-30)gaG>gaA	p.E10E	LDHC_ENST00000280704.4_Silent_p.E10E|LDHC_ENST00000546146.1_Silent_p.E10E|LDHC_ENST00000544105.1_Silent_p.E10E|LDHC_ENST00000535809.1_Silent_p.E10E|LDHC_ENST00000537486.1_Silent_p.E10E|LDHC_ENST00000536880.1_Silent_p.E10E			P07864	LDHC_HUMAN	lactate dehydrogenase C	10					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCTAATTGAGAAGCTAATTG	0.393																																						uc001mon.3		NaN																	0					0						c.(28-30)GAG>GAA		L-lactate dehydrogenase C	NADH(DB00157)						142.0	137.0	138.0					11																	18434294		2199	4293	6492	SO:0001819	synonymous_variant	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18434294G>A	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.30G>A	11.37:g.18434294G>A						LDHC_uc001mom.3_Silent_p.E10E|LDHC_uc009yhp.2_Silent_p.E10E|LDHC_uc001moo.3_5'UTR|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_5'UTR	p.E10E	NM_017448	NP_059144	P07864	LDHC_HUMAN			2	142	+			10					D3DQY4|Q6GSG8|Q7Z7J4	Silent	SNP	ENST00000541669.1	37	c.30G>A	CCDS7840.1																																																																																				0.393	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1		NM_017448		12	52	0	0	0	0.00245	0	12	52		
NELL1	4745	broad.mit.edu	37	11	20940866	20940866	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:20940866A>T	ENST00000357134.5	+	7	897	c.745A>T	c.(745-747)Aag>Tag	p.K249*	NELL1_ENST00000298925.5_Nonsense_Mutation_p.K277*|NELL1_ENST00000532434.1_Nonsense_Mutation_p.K249*|NELL1_ENST00000325319.5_Nonsense_Mutation_p.K192*	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	249					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GCTTTTGGCCAAGATGACTGC	0.323																																						uc001mqe.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(745-747)AAG>TAG		nel-like 1 isoform 1 precursor							120.0	118.0	118.0					11																	20940866		2203	4299	6502	SO:0001587	stop_gained	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20940866A>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.745A>T	11.37:g.20940866A>T	ENSP00000349654:p.Lys249*					NELL1_uc001mqf.2_Nonsense_Mutation_p.K249*|NELL1_uc009yid.2_Nonsense_Mutation_p.K277*|NELL1_uc010rdo.1_Nonsense_Mutation_p.K192*|NELL1_uc010rdp.1_Nonsense_Mutation_p.K9*	p.K249*	NM_006157	NP_006148	Q92832	NELL1_HUMAN			7	898	+			249					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Nonsense_Mutation	SNP	ENST00000357134.5	37	c.745A>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	A	36	5.620200	0.96660	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.9465	16.1057	0.81220	1.0:0.0:0.0:0.0	.	.	.	.	X	277;249;192;249	.	ENSP00000298925:K277X	K	+	1	0	NELL1	20897442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.701000	0.91331	2.281000	0.76405	0.528000	0.53228	AAG		0.323	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1		NM_006157		26	40	0	0	0	0.003271	0	26	40		
CCDC73	493860	broad.mit.edu	37	11	32781668	32781668	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:32781668A>T	ENST00000335185.5	-	2	165	c.122T>A	c.(121-123)tTg>tAg	p.L41*	CCDC73_ENST00000534415.1_5'UTR|CCDC73_ENST00000531481.1_Nonsense_Mutation_p.L41*	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	41										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TCTCATACGCAATTCTTCTAA	0.289																																						uc001mtv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(121-123)TTG>TAG		sarcoma antigen NY-SAR-79							138.0	137.0	137.0					11																	32781668		1793	4058	5851	SO:0001587	stop_gained	493860							g.chr11:32781668A>T	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.122T>A	11.37:g.32781668A>T	ENSP00000335325:p.Leu41*					CCDC73_uc001mtw.1_Nonsense_Mutation_p.L41*|CCDC73_uc009yjt.2_Nonsense_Mutation_p.L41*	p.L41*	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			2	166	-	Breast(20;0.112)		41					Q6P5Q7|Q6ZMW0|Q86WE7	Nonsense_Mutation	SNP	ENST00000335185.5	37	c.122T>A	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	A	38	7.016456	0.98006	.	.	ENSG00000186714	ENST00000335185;ENST00000531481	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8866	0.63712	1.0:0.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000335325:L41X	L	-	2	0	CCDC73	32738244	1.000000	0.71417	0.967000	0.41034	0.978000	0.69477	5.590000	0.67530	2.270000	0.75569	0.459000	0.35465	TTG		0.289	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2		NM_001008391		5	111	0	0	0	0.001168	0	5	111		
HIPK3	10114	broad.mit.edu	37	11	33370305	33370305	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:33370305C>T	ENST00000303296.4	+	13	2912	c.2607C>T	c.(2605-2607)gtC>gtT	p.V869V	HIPK3_ENST00000379016.3_Silent_p.V848V|HIPK3_ENST00000456517.1_Silent_p.V848V|HIPK3_ENST00000525975.1_Silent_p.V848V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	869	Interaction with AR. {ECO:0000250}.|Interaction with FAS. {ECO:0000250}.|Required for localization to nuclear speckles. {ECO:0000250}.|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CAGTGAGTGTCATCACTATCA	0.473																																						uc001mul.1		NaN																	0				large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						c.(2605-2607)GTC>GTT		homeodomain interacting protein kinase 3 isoform							82.0	76.0	78.0					11																	33370305		2202	4298	6500	SO:0001819	synonymous_variant	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33370305C>T	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2607C>T	11.37:g.33370305C>T						HIPK3_uc001mum.1_Silent_p.V848V|HIPK3_uc009yjv.1_Silent_p.V848V	p.V869V	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			13	2877	+			869			SUMO interaction motifs (SIM); required for nuclear localization and kinase activity (By similarity).|Interaction with FAS (By similarity).|Required for localization to nuclear speckles (By similarity).|Interaction with AR (By similarity).		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	c.2607C>T	CCDS7884.1																																																																																				0.473	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1		NM_005734		56	84	0	0	0	0.00361	0	56	84		
ABTB2	25841	broad.mit.edu	37	11	34226117	34226117	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:34226117G>A	ENST00000435224.2	-	2	1428	c.1004C>T	c.(1003-1005)aCc>aTc	p.T335I	ABTB2_ENST00000298992.2_Missense_Mutation_p.T149I|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	335					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GCCCACGCAGGTGGCCAGGAG	0.642																																						uc001mvl.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(445-447)ACC>ATC		ankyrin repeat and BTB (POZ) domain containing							47.0	45.0	46.0					11																	34226117		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34226117G>A	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1004C>T	11.37:g.34226117G>A	ENSP00000410157:p.Thr335Ile						p.T149I	NM_145804	NP_665803	Q8N961	ABTB2_HUMAN			2	676	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	149					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.446C>T	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898978	0.91962	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.49139	0.79;0.79	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	M	0.75085	2.285	0.80722	D	1	P	0.47106	0.89	P	0.46076	0.503	T	0.66089	-0.6010	10	0.87932	D	0	-14.348	18.6106	0.91284	0.0:0.0:1.0:0.0	.	149	Q8N961	ABTB2_HUMAN	I	335;149	ENSP00000410157:T335I;ENSP00000298992:T149I	ENSP00000298992:T149I	T	-	2	0	ABTB2	34182693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.396000	0.81511	0.455000	0.32223	ACC		0.642	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3		NM_145804		36	33	0	0	0	0.00361	0	36	33		
LRRC4C	57689	broad.mit.edu	37	11	40136115	40136115	+	Silent	SNP	C	C	A	rs563374621		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:40136115C>A	ENST00000278198.2	-	2	3691	c.1728G>T	c.(1726-1728)acG>acT	p.T576T	LRRC4C_ENST00000527150.1_Silent_p.T576T|LRRC4C_ENST00000530763.1_Silent_p.T576T|LRRC4C_ENST00000528697.1_Silent_p.T576T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	576					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGTGTCTCCCGTAATCTCAT	0.458																																						uc001mxa.1		NaN																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1726-1728)ACG>ACT		netrin-G1 ligand precursor							207.0	201.0	203.0					11																	40136115		2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136115C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1728G>T	11.37:g.40136115C>A						LRRC4C_uc001mxc.1_Silent_p.T572T|LRRC4C_uc001mxd.1_Silent_p.T572T|LRRC4C_uc001mxb.1_Silent_p.T572T	p.T576T	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3692	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	576					A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.1728G>T	CCDS31464.1																																																																																				0.458	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1		NM_020929		44	59	1	0	1.42923e-14	0.00361	1.58117e-14	44	59		
EXT2	2132	broad.mit.edu	37	11	44255775	44255775	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:44255775G>T	ENST00000343631.3	+	12	2046	c.1917G>T	c.(1915-1917)acG>acT	p.T639T	EXT2_ENST00000533608.1_Silent_p.T639T|EXT2_ENST00000395673.3_Silent_p.T672T|EXT2_ENST00000358681.4_Silent_p.T649T			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	639					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCAACGTCACGGGAAAAGCAG	0.433			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													uc001mxz.2		NaN	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	Mis|N|F|S	multiple exostoses type 2 gene			M		exostoses|osteosarcoma			0				lung(2)|breast(2)|skin(1)	5						c.(1915-1917)ACG>ACT		exostosin 2 isoform 2							89.0	84.0	86.0					11																	44255775		2203	4299	6502	SO:0001819	synonymous_variant	2132	Hereditary_Multiple_Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44255775G>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1917G>T	11.37:g.44255775G>T						EXT2_uc010rfo.1_Silent_p.T667T|EXT2_uc001mxy.2_Silent_p.T652T|EXT2_uc009ykt.2_Silent_p.T649T|EXT2_uc001mya.2_Silent_p.T672T	p.T639T	NM_207122	NP_997005	Q93063	EXT2_HUMAN			12	2251	+			639			Lumenal (Potential).		B2R5Z6|C9JU51|J3KPT2|O15288	Silent	SNP	ENST00000343631.3	37	c.1917G>T	CCDS7908.1																																																																																				0.433	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1		NM_000401		23	16	1	0	8.24728e-16	0.004656	9.1851e-16	23	16		
CKAP5	9793	broad.mit.edu	37	11	46802036	46802036	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:46802036C>T	ENST00000529230.1	-	19	2296		c.e19-1		CKAP5_ENST00000312055.5_Splice_Site|CKAP5_ENST00000354558.3_Splice_Site|CKAP5_ENST00000415402.1_Splice_Site			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5						centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.?(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GACATTCAACCTAGAAGAAAC	0.368																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NaN																	1	Unknown(1)		kidney(1)	ovary(1)|skin(1)	2						c.e19-1		colonic and hepatic tumor over-expressed protein							72.0	67.0	69.0					11																	46802036		2201	4299	6500	SO:0001630	splice_region_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46802036C>T		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2250-1G>A	11.37:g.46802036C>T						CKAP5_uc009ylg.1_Splice_Site_p.G636_splice|CKAP5_uc001ndj.1_Splice_Site_p.G750_splice	p.G750_splice	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			19	2360	-								Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Splice_Site	SNP	ENST00000529230.1	37	c.2250_splice	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760869	0.89932	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1513	0.93491	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CKAP5	46758612	1.000000	0.71417	0.984000	0.44739	0.945000	0.59286	7.677000	0.84024	2.518000	0.84900	0.655000	0.94253	.		0.368	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1		NM_014756	Intron	11	10	0	0	0	0.00245	0	11	10		
OR4C3	256144	broad.mit.edu	37	11	48346740	48346740	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:48346740C>T	ENST00000319856.4	+	1	269	c.248C>T	c.(247-249)cCt>cTt	p.P83L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTGGCTTCCCCTGTGTATTTT	0.458																																						uc010rhv.1		NaN																	0				skin(1)	1						c.(247-249)CCT>CTT		olfactory receptor, family 4, subfamily C,							143.0	124.0	130.0					11																	48346740		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346740C>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.248C>T	11.37:g.48346740C>T	ENSP00000321419:p.Pro83Leu						p.P83L	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	248	+			56			Helical; Name=2; (Potential).		B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.248C>T	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789805	0.70337	.	.	ENSG00000176547	ENST00000319856	T	0.02032	4.49	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.152719	0.31461	N	0.007611	T	0.19886	0.0478	M	0.94021	3.485	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.01218	-1.1415	10	0.87932	D	0	.	17.8871	0.88858	0.0:1.0:0.0:0.0	.	56	Q8NH37	OR4C3_HUMAN	L	83	ENSP00000321419:P83L	ENSP00000321419:P83L	P	+	2	0	OR4C3	48303316	1.000000	0.71417	0.872000	0.34217	0.232000	0.25224	5.876000	0.69667	2.829000	0.97493	0.549000	0.68633	CCT		0.458	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1		NM_001004702		3	35	0	0	0	0.001168	0	3	35		
OR5AS1	219447	broad.mit.edu	37	11	55798291	55798291	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:55798291A>G	ENST00000313555.1	+	1	397	c.397A>G	c.(397-399)Act>Gct	p.T133A		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ACTGCTCTATACTACACTGAT	0.463																																						uc010riw.1		NaN																	0				ovary(3)|liver(1)|skin(1)	5						c.(397-399)ACT>GCT		olfactory receptor, family 5, subfamily AS,							161.0	132.0	142.0					11																	55798291		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798291A>G	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.397A>G	11.37:g.55798291A>G	ENSP00000324111:p.Thr133Ala						p.T133A	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	397	+	Esophageal squamous(21;0.00693)		133			Cytoplasmic (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.397A>G	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	A	3.009	-0.204359	0.06180	.	.	ENSG00000181785	ENST00000313555	T	0.01304	5.03	5.46	0.308	0.15815	GPCR, rhodopsin-like superfamily (1);	0.787464	0.10357	U	0.684450	T	0.01029	0.0034	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49862	-0.8894	10	0.42905	T	0.14	.	0.3575	0.00359	0.2697:0.2596:0.1383:0.3325	.	133	Q8N127	O5AS1_HUMAN	A	133	ENSP00000324111:T133A	ENSP00000324111:T133A	T	+	1	0	OR5AS1	55554867	0.000000	0.05858	0.324000	0.25361	0.009000	0.06853	-1.183000	0.03079	0.020000	0.15106	-1.164000	0.01763	ACT		0.463	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1		NM_001001921		33	25	0	0	0	0.009535	0	33	25		
OR8H3	390152	broad.mit.edu	37	11	55890516	55890516	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:55890516C>T	ENST00000313472.3	+	1	668	c.668C>T	c.(667-669)tCt>tTt	p.S223F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCCATTCTCTCTACCATCCTG	0.418																																						uc001nii.1		NaN																	0				ovary(2)	2						c.(667-669)TCT>TTT		olfactory receptor, family 8, subfamily H,							159.0	147.0	151.0					11																	55890516		2201	4294	6495	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890516C>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.668C>T	11.37:g.55890516C>T	ENSP00000323928:p.Ser223Phe						p.S223F	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	668	+	Esophageal squamous(21;0.00693)		223			Cytoplasmic (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.668C>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.627583	0.00813	.	.	ENSG00000181761	ENST00000313472	T	0.36699	1.24	3.62	1.66	0.24008	GPCR, rhodopsin-like superfamily (1);	0.258372	0.28262	N	0.015999	T	0.29491	0.0735	L	0.50993	1.605	0.09310	N	1	B	0.16166	0.016	B	0.29785	0.107	T	0.24333	-1.0163	10	0.39692	T	0.17	.	4.4155	0.11454	0.0:0.3779:0.3099:0.3122	.	223	Q8N146	OR8H3_HUMAN	F	223	ENSP00000323928:S223F	ENSP00000323928:S223F	S	+	2	0	OR8H3	55647092	0.000000	0.05858	0.032000	0.17829	0.065000	0.16274	-2.153000	0.01287	0.129000	0.18514	-1.402000	0.01139	TCT		0.418	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1		NM_001005201		53	57	0	0	0	0.00361	0	53	57		
OR5R1	219479	broad.mit.edu	37	11	56185025	56185025	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:56185025G>A	ENST00000312253.1	-	1	683	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GAGTAGAGCGGATCCTTAGGA	0.443																																						uc010rji.1		NaN																	0				ovary(2)	2						c.(682-684)ATC>ATT		olfactory receptor, family 5, subfamily R,							134.0	122.0	126.0					11																	56185025		2201	4296	6497	SO:0001819	synonymous_variant	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185025G>A	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.684C>T	11.37:g.56185025G>A							p.I228I	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	684	-	Esophageal squamous(21;0.00448)		228			Cytoplasmic (Potential).			Silent	SNP	ENST00000312253.1	37	c.684C>T	CCDS31530.1																																																																																				0.443	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1		NM_001004744		29	41	0	0	0	0.005524	0	29	41		
OR5M10	390167	broad.mit.edu	37	11	56345172	56345172	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:56345172A>G	ENST00000526812.2	-	1	91	c.26T>C	c.(25-27)gTg>gCg	p.V9A		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GAATTCTGTCACTATGGTGTG	0.438																																						uc001niz.1		NaN																	0					0						c.(25-27)GTG>GCG		olfactory receptor, family 5, subfamily M,							132.0	123.0	126.0					11																	56345172		1909	4121	6030	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56345172A>G	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.26T>C	11.37:g.56345172A>G	ENSP00000436004:p.Val9Ala						p.V9A	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	26	-			9			Extracellular (Potential).		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.26T>C	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.372326	0.24857	.	.	ENSG00000254834	ENST00000526812	T	0.00892	5.57	4.04	2.88	0.33553	.	.	.	.	.	T	0.01905	0.0060	M	0.79475	2.455	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.29243	-1.0018	9	0.59425	D	0.04	.	9.7817	0.40651	0.8259:0.1741:0.0:0.0	.	9	Q6IEU7	OR5MA_HUMAN	A	9	ENSP00000436004:V9A	ENSP00000436004:V9A	V	-	2	0	OR5M10	56101748	0.148000	0.22702	0.007000	0.13788	0.078000	0.17371	4.338000	0.59316	0.680000	0.31366	0.514000	0.50259	GTG		0.438	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1		NM_001004741		38	59	0	0	0	0.010771	0	38	59		
VWCE	220001	broad.mit.edu	37	11	61026169	61026170	+	Missense_Mutation	DNP	CG	CG	GA	rs199724001|rs143205377		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:61026169_61026170CG>GA	ENST00000335613.5	-	20	3231_3232	c.2845_2846CG>TC	c.(2845-2847)CGg>TCg	p.R949S	VWCE_ENST00000535710.1_Missense_Mutation_p.R414S	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	949						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTCTTCCCCCCGAGAAGCCCCC	0.663																																						uc001nra.2		NaN																	0				ovary(1)	1						c.(2845-2847)CGG>TCG		von Willebrand factor C and EGF domains																																				SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61026169_61026170CG>GA	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2845_2846delinsGA	11.37:g.61026169_61026170delinsGA	ENSP00000334186:p.Arg949Ser					VWCE_uc001nrb.2_RNA	p.R949S	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			20	3124_3125	-			949					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	DNP	ENST00000335613.5	37	c.2845_2846CG>TC	CCDS8002.1																																																																																				0.663	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1		NM_152718		15	27	0	0	0	0.004672	0	15	27		
AHNAK	79026	broad.mit.edu	37	11	62292550	62292550	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:62292550C>A	ENST00000378024.4	-	5	9613	c.9339G>T	c.(9337-9339)ctG>ctT	p.L3113L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3113					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCACTTTTGGCAGAGACACAT	0.473																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(9337-9339)CTG>CTT		AHNAK nucleoprotein isoform 1							226.0	241.0	236.0					11																	62292550		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62292550C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9339G>T	11.37:g.62292550C>A						AHNAK_uc001ntk.1_Intron	p.L3113L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	9639	-		Melanoma(852;0.155)	3113					A1A586	Silent	SNP	ENST00000378024.4	37	c.9339G>T	CCDS31584.1																																																																																				0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		96	127	1	0	2.68928e-46	0.00361	3.18128e-46	96	127		
CDCA5	113130	broad.mit.edu	37	11	64847132	64847132	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:64847132G>A	ENST00000275517.3	-	5	543	c.371C>T	c.(370-372)tCc>tTc	p.S124F	CDCA5_ENST00000404147.3_Missense_Mutation_p.S124F	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	124					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTTGGAGCTGGACTCGGCCTC	0.607																																						uc001ocp.2		NaN																	0					0						c.(370-372)TCC>TTC		cell division cycle associated 5							18.0	19.0	19.0					11																	64847132		2198	4295	6493	SO:0001583	missense	113130				cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	g.chr11:64847132G>A	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.371C>T	11.37:g.64847132G>A	ENSP00000275517:p.Ser124Phe						p.S124F	NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN			5	536	-			124					A8K625	Missense_Mutation	SNP	ENST00000275517.3	37	c.371C>T	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257061	0.59321	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.46451	0.87;0.87	5.14	4.23	0.50019	.	0.671799	0.15757	N	0.246103	T	0.39036	0.1063	L	0.57536	1.79	0.09310	N	1	B	0.18013	0.025	B	0.22753	0.041	T	0.25847	-1.0120	10	0.32370	T	0.25	.	9.9563	0.41668	0.0954:0.0:0.9046:0.0	.	124	Q96FF9	CDCA5_HUMAN	F	124	ENSP00000275517:S124F;ENSP00000385711:S124F	ENSP00000275517:S124F	S	-	2	0	CDCA5	64603708	0.002000	0.14202	0.002000	0.10522	0.005000	0.04900	1.234000	0.32660	1.283000	0.44513	-0.158000	0.13435	TCC		0.607	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1		NM_080668		5	2	0	0	0	0.001168	0	5	2		
PELI3	246330	broad.mit.edu	37	11	66236342	66236342	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:66236342G>C	ENST00000320740.7	+	3	351	c.191G>C	c.(190-192)aGa>aCa	p.R64T	MRPL11_ENST00000524576.1_5'Flank|PELI3_ENST00000349459.6_Intron|PELI3_ENST00000524466.1_Missense_Mutation_p.R64T|PELI3_ENST00000531856.1_Intron	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	64					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						gaggctcagagaggggaagtg	0.527																																						uc001oic.3		NaN																	0				ovary(1)	1						c.(190-192)AGA>ACA		pellino 3 alpha isoform 1							46.0	40.0	42.0					11																	66236342		2200	4295	6495	SO:0001583	missense	246330					cytosol	protein binding	g.chr11:66236342G>C	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.191G>C	11.37:g.66236342G>C	ENSP00000322532:p.Arg64Thr					PELI3_uc001oib.2_Missense_Mutation_p.R64T|PELI3_uc001oid.3_Intron|PELI3_uc001oie.3_Intron	p.R64T	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN			3	355	+			64					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	ENST00000320740.7	37	c.191G>C	CCDS31615.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885515	0.33255	.	.	ENSG00000174516	ENST00000320740;ENST00000524466;ENST00000527230	T	0.43294	0.95	4.16	4.16	0.48862	.	0.953941	0.08645	N	0.914951	T	0.40297	0.1111	N	0.08118	0	0.30299	N	0.789636	P;D	0.57899	0.462;0.981	B;D	0.66351	0.227;0.943	T	0.07635	-1.0762	10	0.08599	T	0.76	-1.6492	12.6757	0.56893	0.0:0.0:1.0:0.0	.	64;64	Q8N2H9;Q8N2H9-4	PELI3_HUMAN;.	T	64	ENSP00000322532:R64T	ENSP00000322532:R64T	R	+	2	0	PELI3	65992918	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.082000	0.57635	2.265000	0.75225	0.591000	0.81541	AGA		0.527	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1		NM_145065		8	8	0	0	0	0.00308	0	8	8		
RBM14	10432	broad.mit.edu	37	11	66392723	66392723	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:66392723G>T	ENST00000310137.4	+	2	1515	c.1376G>T	c.(1375-1377)gGc>gTc	p.G459V	RBM14_ENST00000393979.3_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM4_ENST00000514361.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	459	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCAATGGCTGGCTCCTATGGG	0.622																																						uc001oit.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1375-1377)GGC>GTC		RNA binding motif protein 14							85.0	95.0	92.0					11																	66392723		2195	4276	6471	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66392723G>T	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1376G>T	11.37:g.66392723G>T	ENSP00000311747:p.Gly459Val					RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	p.G459V	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN			2	1515	+			459			Ala-rich.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1376G>T	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677196	0.29783	.	.	ENSG00000239306	ENST00000310137	D	0.85556	-2.0	5.75	4.84	0.62591	.	0.228703	0.45361	D	0.000376	T	0.81955	0.4932	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	P	0.52758	0.708	D	0.83688	0.0175	10	0.87932	D	0	-1.9368	10.6535	0.45661	0.0878:0.0:0.9122:0.0	.	459	Q96PK6	RBM14_HUMAN	V	459	ENSP00000311747:G459V	ENSP00000311747:G459V	G	+	2	0	RBM14	66149299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.077000	0.57598	1.444000	0.47605	0.655000	0.94253	GGC		0.622	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1		NM_006328		84	107	1	0	4.15467e-78	0.00361	4.9588e-78	84	107		
CTTN	2017	broad.mit.edu	37	11	70277332	70277332	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:70277332G>C	ENST00000301843.8	+	15	1418	c.1212G>C	c.(1210-1212)gtG>gtC	p.V404V	CTTN_ENST00000538675.1_Silent_p.V88V|CTTN_ENST00000376561.3_Silent_p.V367V|CTTN_ENST00000346329.3_Silent_p.V367V	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	404					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CGCCCCCTGTGTCGCCCGCAC	0.562																																						uc001opv.3		NaN																	0				ovary(1)	1						c.(1210-1212)GTG>GTC		cortactin isoform a							117.0	129.0	125.0					11																	70277332		2200	4294	6494	SO:0001819	synonymous_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70277332G>C	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1212G>C	11.37:g.70277332G>C						CTTN_uc001opu.2_Silent_p.V367V|CTTN_uc001opw.3_Silent_p.V367V|CTTN_uc010rqm.1_Silent_p.V88V|CTTN_uc001opx.2_Silent_p.V88V	p.V404V	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	15	1418	+			404					Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	c.1212G>C	CCDS41680.1																																																																																				0.562	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2		NM_138565		71	82	0	0	0	0.00361	0	71	82		
NADSYN1	55191	broad.mit.edu	37	11	71169536	71169536	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:71169536T>C	ENST00000319023.2	+	3	397	c.209T>C	c.(208-210)cTa>cCa	p.L70P		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	70	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	TTTCAAGTCCTAGCGGCCCTT	0.542																																					Ovarian(79;763 1781 6490 50276)	uc001oqn.2		NaN																	0				ovary(2)	2						c.(208-210)CTA>CCA		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						157.0	136.0	143.0					11																	71169536		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71169536T>C	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.209T>C	11.37:g.71169536T>C	ENSP00000326424:p.Leu70Pro					NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR	p.L70P	NM_018161	NP_060631	Q6IA69	NADE_HUMAN			3	335	+			70			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.209T>C	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.431552	0.62844	.	.	ENSG00000172890	ENST00000319023	D	0.91464	-2.85	4.35	4.35	0.52113	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.64402	D	0.000003	D	0.96510	0.8861	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97134	0.9820	10	0.87932	D	0	-20.9423	11.8074	0.52163	0.0:0.0:0.0:1.0	.	70	Q6IA69	NADE_HUMAN	P	70	ENSP00000326424:L70P	ENSP00000326424:L70P	L	+	2	0	NADSYN1	70847184	1.000000	0.71417	0.396000	0.26296	0.480000	0.33159	6.649000	0.74364	1.721000	0.51461	0.459000	0.35465	CTA		0.542	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1		NM_018161		27	67	0	0	0	0.012213	0	27	67		
SLCO2B1	11309	broad.mit.edu	37	11	74911311	74911311	+	Missense_Mutation	SNP	G	G	A	rs149242910	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:74911311G>A	ENST00000289575.5	+	11	2037	c.1642G>A	c.(1642-1644)Gtg>Atg	p.V548M	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.V404M|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.V526M|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.V321M|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.V432M|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.V293M|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.V321M	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	548					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	GGGCAACCCCGTGCTGGCAGG	0.632																																						uc001owb.2		NaN																	0				ovary(1)|breast(1)	2						c.(1642-1644)GTG>ATG		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)	G	MET/VAL,MET/VAL,MET/VAL	0,4400		0,0,2200	105.0	97.0	100.0		1576,1210,1642	2.4	0.0	11	dbSNP_134	100	6,8580	5.0+/-18.6	0,6,4287	yes	missense,missense,missense	SLCO2B1	NM_001145211.2,NM_001145212.2,NM_007256.4	21,21,21	0,6,6487	AA,AG,GG		0.0699,0.0,0.0462	possibly-damaging,possibly-damaging,possibly-damaging	526/688,404/566,548/710	74911311	6,12980	2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74911311G>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1642G>A	11.37:g.74911311G>A	ENSP00000289575:p.Val548Met					SLCO2B1_uc010rrq.1_Missense_Mutation_p.V293M|SLCO2B1_uc010rrr.1_Missense_Mutation_p.V404M|SLCO2B1_uc010rrs.1_Missense_Mutation_p.V432M|SLCO2B1_uc001owc.2_Missense_Mutation_p.V321M|SLCO2B1_uc001owd.2_Missense_Mutation_p.V526M	p.V548M	NM_007256	NP_009187	O94956	SO2B1_HUMAN			11	2029	+			548			Extracellular (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1642G>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892803	0.33442	0.0	6.99E-4	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T;T	0.50001	0.92;0.94;1.07;0.89;0.76;0.94;0.93	5.37	2.4	0.29515	Major facilitator superfamily domain, general substrate transporter (1);	1.410740	0.03997	N	0.295883	T	0.57021	0.2025	L	0.42529	1.33	0.09310	N	1	D;D;D;D	0.63046	0.982;0.982;0.978;0.992	P;P;P;P	0.56648	0.803;0.803;0.702;0.803	T	0.44221	-0.9342	10	0.62326	D	0.03	.	9.5407	0.39251	0.2434:0.0:0.7566:0.0	.	404;293;321;548	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	M	548;321;432;293;404;321;526	ENSP00000289575:V548M;ENSP00000341286:V321M;ENSP00000434112:V432M;ENSP00000432650:V293M;ENSP00000436324:V404M;ENSP00000389653:V321M;ENSP00000388912:V526M	ENSP00000289575:V548M	V	+	1	0	SLCO2B1	74588959	0.973000	0.33851	0.006000	0.13384	0.005000	0.04900	2.403000	0.44530	0.621000	0.30232	0.462000	0.41574	GTG		0.632	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1		NM_007256		82	110	0	0	0	0.00361	0	82	110		
PRKRIR	5612	broad.mit.edu	37	11	76062849	76062849	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:76062849C>G	ENST00000260045.3	-	5	1450	c.1345G>C	c.(1345-1347)Gat>Cat	p.D449H	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	449					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TTTATACCATCTAAACATAAA	0.383																																						uc001oxh.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(1345-1347)GAT>CAT		protein-kinase, interferon-inducible double							31.0	35.0	34.0					11																	76062849		2182	4258	6440	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76062849C>G	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1345G>C	11.37:g.76062849C>G	ENSP00000260045:p.Asp449His					PRKRIR_uc010rrz.1_Missense_Mutation_p.D274H	p.D449H	NM_004705	NP_004696	O43422	P52K_HUMAN			5	1345	-			449					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.1345G>C	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076948	0.76415	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.21734	1.99;1.99	4.99	4.99	0.66335	Ribonuclease H-like (1);	0.041017	0.85682	D	0.000000	T	0.43077	0.1231	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.17107	-1.0380	10	0.13853	T	0.58	.	18.8019	0.92022	0.0:1.0:0.0:0.0	.	449	O43422	P52K_HUMAN	H	274;449	ENSP00000436249:D274H;ENSP00000260045:D449H	ENSP00000260045:D449H	D	-	1	0	PRKRIR	75740497	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.088000	0.76901	2.527000	0.85204	0.644000	0.83932	GAT		0.383	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1		NM_004705		24	24	0	0	0	0.010818	0	24	24		
CAPN5	726	broad.mit.edu	37	11	76826502	76826502	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:76826502A>G	ENST00000278559.3	+	6	950	c.761A>G	c.(760-762)tAc>tGc	p.Y254C	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.Y294C|CAPN5_ENST00000529629.1_Missense_Mutation_p.Y254C	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	254	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GGCCACGCATACGCCGTCACT	0.642																																						uc001oxx.2		NaN																	0					0						c.(760-762)TAC>TGC		calpain 5							42.0	39.0	40.0					11																	76826502		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76826502A>G		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.761A>G	11.37:g.76826502A>G	ENSP00000278559:p.Tyr254Cys					CAPN5_uc009yup.2_Missense_Mutation_p.Y294C|CAPN5_uc009yuq.2_Missense_Mutation_p.Y290C|CAPN5_uc001oxy.2_Missense_Mutation_p.Y294C	p.Y254C	NM_004055	NP_004046	O15484	CAN5_HUMAN			6	946	+			254			Calpain catalytic.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.761A>G	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.256825	0.59321	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	T;T;T	0.56444	0.46;0.46;0.46	5.11	5.11	0.69529	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.83732	0.5318	H	0.99261	4.49	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.994	D;D;D;D	0.91635	0.968;0.999;0.999;0.948	D	0.90391	0.4395	10	0.87932	D	0	.	14.0908	0.64990	1.0:0.0:0.0:0.0	.	292;294;294;254	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	C	254;294;254;294;294	ENSP00000278559:Y254C;ENSP00000432332:Y254C;ENSP00000409996:Y294C	ENSP00000278559:Y254C	Y	+	2	0	CAPN5	76504150	1.000000	0.71417	0.265000	0.24526	0.313000	0.28021	9.285000	0.95894	1.918000	0.55548	0.459000	0.35465	TAC		0.642	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2		NM_004055		8	17	0	0	0	0.008291	0	8	17		
GRM5	2915	broad.mit.edu	37	11	88780576	88780576	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:88780576G>T	ENST00000305447.4	-	1	614	c.465C>A	c.(463-465)gcC>gcA	p.A155A	GRM5_ENST00000393297.1_Silent_p.A155A|GRM5_ENST00000455756.2_Silent_p.A155A|GRM5_ENST00000305432.5_Silent_p.A155A|GRM5_ENST00000393294.3_Silent_p.A155A|GRM5_ENST00000418177.2_Silent_p.A155A	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	155					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GGACCTGAATGGCTACAGAAC	0.493																																						uc001pcq.2		NaN																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(463-465)GCC>GCA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						59.0	55.0	56.0					11																	88780576		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780576G>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.465C>A	11.37:g.88780576G>T						GRM5_uc009yvm.2_Silent_p.A155A|GRM5_uc009yvn.1_Silent_p.A155A	p.A155A	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			1	665	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	155			Extracellular (Potential).		Q6J164	Silent	SNP	ENST00000305447.4	37	c.465C>A	CCDS44694.1																																																																																				0.493	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1		NM_000842		27	21	1	0	7.11191e-15	0.002836	7.88108e-15	27	21		
FAT3	120114	broad.mit.edu	37	11	92532922	92532922	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:92532922A>G	ENST00000298047.6	+	9	6760	c.6743A>G	c.(6742-6744)tAt>tGt	p.Y2248C	FAT3_ENST00000525166.1_Missense_Mutation_p.Y2098C|FAT3_ENST00000409404.2_Missense_Mutation_p.Y2248C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2248	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTTTGGATTATGAAGTTACA	0.423										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	0				ovary(4)|pancreas(1)	5						c.(6742-6744)TAT>TGT		FAT tumor suppressor homolog 3							71.0	65.0	67.0					11																	92532922		1909	4120	6029	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532922A>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6743A>G	11.37:g.92532922A>G	ENSP00000298047:p.Tyr2248Cys	TCGA Ovarian(4;0.039)					p.Y2248C	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	6760	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2248			Cadherin 20.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6743A>G		.	.	.	.	.	.	.	.	.	.	A	15.15	2.747056	0.49257	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.54279	0.58;0.58;0.58	5.94	4.81	0.61882	.	.	.	.	.	T	0.77150	0.4088	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.81947	-0.0700	9	0.72032	D	0.01	.	12.6442	0.56725	0.8762:0.0:0.0:0.1238	.	2248	Q8TDW7-3	.	C	2248;2248;2098	ENSP00000298047:Y2248C;ENSP00000387040:Y2248C;ENSP00000432586:Y2098C	ENSP00000298047:Y2248C	Y	+	2	0	FAT3	92172570	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.195000	0.65131	1.056000	0.40484	0.528000	0.53228	TAT		0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		9	4	0	0	0	0.004482	0	9	4		
AMOTL1	154810	broad.mit.edu	37	11	94597966	94597966	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:94597966C>T	ENST00000433060.2	+	10	2343	c.2202C>T	c.(2200-2202)atC>atT	p.I734I	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Silent_p.I684I	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	734					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AGGCCCACATCTGGCAAGAGG	0.557																																						uc001pfb.2		NaN																	0				ovary(1)|breast(1)	2						c.(2200-2202)ATC>ATT		angiomotin like 1							118.0	126.0	123.0					11																	94597966		2080	4205	6285	SO:0001819	synonymous_variant	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94597966C>T	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2202C>T	11.37:g.94597966C>T						AMOTL1_uc001pfc.2_Silent_p.I684I	p.I734I	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			10	2372	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	734			Potential.		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	c.2202C>T	CCDS44712.1																																																																																				0.557	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3		NM_130847		30	134	0	0	0	0.006999	0	30	134		
ATM	472	broad.mit.edu	37	11	108175524	108175524	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:108175524T>C	ENST00000452508.2	+	38	5808	c.5619T>C	c.(5617-5619)tgT>tgC	p.C1873C	ATM_ENST00000278616.4_Silent_p.C1873C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1873					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCACCAGCTGTCTTCGACACT	0.368			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(5617-5619)TGT>TGC	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							59.0	58.0	59.0					11																	108175524		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108175524T>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5619T>C	11.37:g.108175524T>C		TSP Lung(14;0.12)				ATM_uc009yxr.1_Silent_p.C1873C|ATM_uc001pke.1_Silent_p.C525C|ATM_uc001pkg.1_Silent_p.C230C|ATM_uc009yxt.1_Missense_Mutation_p.S17P	p.C1873C	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	37	6004	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1873					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.5619T>C	CCDS31669.1																																																																																				0.368	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		11	23	0	0	0	0.010729	0	11	23		
C11orf57	55216	broad.mit.edu	37	11	111951225	111951225	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:111951225T>C	ENST00000280352.9	+	4	899	c.263T>C	c.(262-264)cTt>cCt	p.L88P	C11orf57_ENST00000530104.1_Missense_Mutation_p.L88P|C11orf57_ENST00000393047.3_Missense_Mutation_p.L88P|C11orf57_ENST00000532163.1_Missense_Mutation_p.L59P|C11orf57_ENST00000420986.2_Missense_Mutation_p.L88P	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	88										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		GATGATTTTCTTAAGGCTAAA	0.373																																						uc001pmr.3		NaN																	0				breast(2)|ovary(1)	3						c.(262-264)CTT>CCT		hypothetical protein LOC55216 isoform b							79.0	82.0	81.0					11																	111951225		2201	4297	6498	SO:0001583	missense	55216							g.chr11:111951225T>C	BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.263T>C	11.37:g.111951225T>C	ENSP00000339076:p.Leu88Pro					C11orf57_uc001pmu.2_Missense_Mutation_p.L88P|C11orf57_uc001pmw.3_Missense_Mutation_p.L88P|C11orf57_uc001pmt.3_Missense_Mutation_p.L88P|C11orf57_uc001pmv.3_Missense_Mutation_p.L88P|C11orf57_uc001pms.3_Missense_Mutation_p.L59P	p.L88P	NM_001082970	NP_001076439	Q6ZUT1	CK057_HUMAN		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)	4	944	+		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	88					Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	ENST00000280352.9	37	c.263T>C	CCDS41715.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.724334	0.68959	.	.	ENSG00000150776	ENST00000420986;ENST00000532163;ENST00000280352;ENST00000530104;ENST00000526879;ENST00000393047;ENST00000525785;ENST00000531378	.	.	.	5.84	5.84	0.93424	.	0.198994	0.41294	D	0.000917	T	0.68595	0.3018	L	0.47716	1.5	0.54753	D	0.999982	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.74023	0.93;0.964;0.982	T	0.69892	-0.5022	9	0.54805	T	0.06	4.1055	12.698	0.57016	0.0:0.0:0.1373:0.8627	.	88;88;88	E9PLE3;Q6ZUT1-2;Q6ZUT1	.;.;CK057_HUMAN	P	88;59;88;88;88;88;59;42	.	ENSP00000339076:L88P	L	+	2	0	C11orf57	111456435	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.579000	0.46059	2.220000	0.72140	0.482000	0.46254	CTT		0.373	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1		NM_018195		9	31	0	0	0	0.008291	0	9	31		
BUD13	84811	broad.mit.edu	37	11	116643573	116643573	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:116643573T>A	ENST00000260210.4	-	1	131	c.108A>T	c.(106-108)aaA>aaT	p.K36N	AP006216.11_ENST00000366405.2_lincRNA|BUD13_ENST00000375445.3_Missense_Mutation_p.K36N|AP006216.10_ENST00000439104.1_RNA	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	36					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TCGGCCGCTTTTTGCGACGCT	0.692																																						uc001ppn.2		NaN																	0				large_intestine(1)|pancreas(1)	2						c.(106-108)AAA>AAT		BUD13 homolog isoform 1							6.0	7.0	7.0					11																	116643573		2128	4188	6316	SO:0001583	missense	84811							g.chr11:116643573T>A	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.108A>T	11.37:g.116643573T>A	ENSP00000260210:p.Lys36Asn					BUD13_uc001ppo.2_Missense_Mutation_p.K36N|BUD13_uc009yzc.2_Missense_Mutation_p.K36N	p.K36N	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	1	142	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	36					A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.108A>T	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416612	0.83449	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.38077	1.37;1.16	4.99	2.71	0.32032	.	0.169935	0.49305	D	0.000141	T	0.45357	0.1338	M	0.77103	2.36	0.43330	D	0.995367	D;P;P	0.54047	0.964;0.928;0.905	P;P;P	0.51229	0.663;0.526;0.549	T	0.50533	-0.8817	10	0.87932	D	0	-16.8539	7.2641	0.26219	0.0:0.2035:0.0:0.7965	.	36;36;36	A8K4Z6;Q9BRD0-2;Q9BRD0	.;.;BUD13_HUMAN	N	36	ENSP00000364594:K36N;ENSP00000260210:K36N	ENSP00000260210:K36N	K	-	3	2	BUD13	116148783	0.999000	0.42202	1.000000	0.80357	0.890000	0.51754	0.589000	0.23939	1.864000	0.54056	0.533000	0.62120	AAA		0.692	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1		NM_032725		6	3	0	0	0	0.004482	0	6	3		
OR8B8	26493	broad.mit.edu	37	11	124310918	124310918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:124310918C>A	ENST00000328064.2	-	1	136	c.64G>T	c.(64-66)Gga>Tga	p.G22*		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	22					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATCTGGACTCCCGGTTGGTCA	0.502																																						uc010sal.1		NaN																	0				ovary(1)	1						c.(64-66)GGA>TGA		olfactory receptor, family 8, subfamily B,							63.0	62.0	62.0					11																	124310918		2201	4299	6500	SO:0001587	stop_gained	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310918C>A	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.64G>T	11.37:g.124310918C>A	ENSP00000330280:p.Gly22*						p.G22*	NM_012378	NP_036510	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	64	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	22			Extracellular (Potential).		A1L446|Q96RC8	Nonsense_Mutation	SNP	ENST00000328064.2	37	c.64G>T	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795589	0.31777	.	.	ENSG00000197125	ENST00000328064	.	.	.	4.08	2.22	0.28083	.	0.909340	0.09130	N	0.844464	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.2254	0.15391	0.0:0.5865:0.152:0.2615	.	.	.	.	X	22	.	ENSP00000330280:G22X	G	-	1	0	OR8B8	123816128	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.290000	0.08354	0.686000	0.31488	-0.259000	0.10710	GGA		0.502	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1		NM_012378		20	42	1	0	6.55177e-30	0.007291	7.64182e-30	20	42		
OR8A1	390275	broad.mit.edu	37	11	124440003	124440003	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:124440003C>T	ENST00000284287.3	+	1	111	c.39C>T	c.(37-39)ccC>ccT	p.P13P		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	13					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GCAGGCCTCCCACCCAGAGGA	0.522																																						uc010san.1		NaN																	0				ovary(1)	1						c.(37-39)CCC>CCT		olfactory receptor, family 8, subfamily A,							62.0	62.0	62.0					11																	124440003		2201	4299	6500	SO:0001819	synonymous_variant	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440003C>T	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.39C>T	11.37:g.124440003C>T							p.P13P	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	39	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	13			Extracellular (Potential).		Q6IEW7|Q96RC6	Silent	SNP	ENST00000284287.3	37	c.39C>T	CCDS31712.1																																																																																				0.522	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1		NM_001005194		16	11	0	0	0	0.00499	0	16	11		
NFRKB	4798	broad.mit.edu	37	11	129758510	129758510	+	Missense_Mutation	SNP	T	T	A	rs370581481		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:129758510T>A	ENST00000446488.3	-	3	419	c.316A>T	c.(316-318)Att>Ttt	p.I106F	NFRKB_ENST00000524746.1_Missense_Mutation_p.I106F|NFRKB_ENST00000526940.1_Missense_Mutation_p.I106F|NFRKB_ENST00000304521.5_Missense_Mutation_p.I106F|NFRKB_ENST00000524794.1_Missense_Mutation_p.I119F	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	106					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTCTGGGCAATGTGCAGAGGG	0.493																																						uc001qfi.2		NaN																	0				ovary(3)	3						c.(316-318)ATT>TTT		nuclear factor related to kappaB binding protein							97.0	92.0	94.0					11																	129758510		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129758510T>A		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.316A>T	11.37:g.129758510T>A	ENSP00000400476:p.Ile106Phe					NFRKB_uc001qfg.2_Missense_Mutation_p.I119F|NFRKB_uc001qfh.2_Missense_Mutation_p.I129F|NFRKB_uc010sbw.1_Missense_Mutation_p.I106F	p.I106F	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	4	517	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	106					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.316A>T	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.509617	0.44660	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755;ENST00000532225;ENST00000529319;ENST00000526940	.	.	.	5.71	5.71	0.89125	.	0.052102	0.85682	D	0.000000	T	0.73481	0.3592	L	0.56769	1.78	0.54753	D	0.999981	D;D;D;D	0.64830	0.994;0.988;0.993;0.993	P;P;P;P	0.59889	0.737;0.737;0.865;0.865	T	0.76069	-0.3094	9	0.66056	D	0.02	-21.3928	16.0304	0.80574	0.0:0.0:0.0:1.0	.	106;106;106;119	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	F	106;106;119;106;106;106;106;106	.	ENSP00000303800:I106F	I	-	1	0	NFRKB	129263720	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.722000	0.61958	2.178000	0.69098	0.529000	0.55759	ATT		0.493	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2		NM_006165		28	46	0	0	0	0.00623	0	28	46		
SNX19	399979	broad.mit.edu	37	11	130785171	130785171	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:130785171C>T	ENST00000265909.4	-	1	1233	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	SNX19_ENST00000533214.1_Missense_Mutation_p.G222R|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	222	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGCACCAGCCCTTGAAGCAAC	0.567																																						uc001qgk.3		NaN																	0				ovary(2)|lung(2)	4						c.(664-666)GGG>AGG		sorting nexin 19							47.0	44.0	45.0					11																	130785171		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785171C>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.664G>A	11.37:g.130785171C>T	ENSP00000265909:p.Gly222Arg					SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.G222R|SNX19_uc009zcx.1_Intron	p.G222R	NM_014758	NP_055573	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1212	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	222			PXA.		E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.664G>A	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	7.107	0.575271	0.13623	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.13657	2.99;2.57	5.44	5.44	0.79542	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	0.572476	0.20088	N	0.099513	T	0.12475	0.0303	L	0.43152	1.355	0.80722	D	1	P;P	0.43607	0.551;0.812	B;B	0.40199	0.239;0.322	T	0.10154	-1.0642	10	0.13470	T	0.59	-3.7659	12.5813	0.56391	0.0:0.9239:0.0:0.0761	.	222;222	E9PKB9;Q92543	.;SNX19_HUMAN	R	222	ENSP00000265909:G222R;ENSP00000435390:G222R	ENSP00000265909:G222R	G	-	1	0	SNX19	130290381	0.071000	0.21146	0.042000	0.18584	0.041000	0.13682	2.922000	0.48860	2.528000	0.85240	0.650000	0.86243	GGG		0.567	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1		NM_014758		14	12	0	0	0	0.007413	0	14	12		
B4GALNT3	283358	broad.mit.edu	37	12	662804	662804	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:662804A>T	ENST00000266383.5	+	14	1728	c.1715A>T	c.(1714-1716)cAg>cTg	p.Q572L		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	572					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ATCGCAGAGCAGAGACGGGGT	0.662																																						uc001qii.1		NaN																	0				ovary(1)|skin(1)	2						c.(1714-1716)CAG>CTG		beta							41.0	42.0	42.0					12																	662804		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:662804A>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1715A>T	12.37:g.662804A>T	ENSP00000266383:p.Gln572Leu					B4GALNT3_uc001qij.1_Missense_Mutation_p.Q475L|B4GALNT3_uc001qik.1_Missense_Mutation_p.Q121L	p.Q572L	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		14	1715	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		572			Lumenal (Potential).		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.1715A>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967912	0.53507	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.32272	3.48;1.46	5.63	5.63	0.86233	.	0.229423	0.45867	D	0.000322	T	0.49932	0.1586	L	0.59436	1.845	0.40835	D	0.983622	D;D	0.76494	0.999;0.979	D;P	0.78314	0.991;0.702	T	0.43940	-0.9360	10	0.29301	T	0.29	-27.6696	14.0723	0.64868	1.0:0.0:0.0:0.0	.	475;572	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	L	572;475	ENSP00000266383:Q572L;ENSP00000322953:Q475L	ENSP00000266383:Q572L	Q	+	2	0	B4GALNT3	533065	1.000000	0.71417	0.999000	0.59377	0.481000	0.33189	3.087000	0.50167	2.148000	0.66965	0.459000	0.35465	CAG		0.662	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2		NM_173593		24	23	0	0	0	0.012213	0	24	23		
C12orf4	57102	broad.mit.edu	37	12	4599748	4599748	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:4599748C>T	ENST00000261250.3	-	13	1593	c.1506G>A	c.(1504-1506)atG>atA	p.M502I	C12orf4_ENST00000545746.1_Missense_Mutation_p.M502I	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	502										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CCATTTCCATCATGAAACCTA	0.388																																						uc001qms.2		NaN																	0					0						c.(1504-1506)ATG>ATA		hypothetical protein LOC57102							99.0	97.0	98.0					12																	4599748		2203	4300	6503	SO:0001583	missense	57102							g.chr12:4599748C>T	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1506G>A	12.37:g.4599748C>T	ENSP00000261250:p.Met502Ile					C12orf4_uc001qmt.2_Missense_Mutation_p.M502I	p.M502I	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	13	1594	-			502					D3DUQ8|Q6MZH5	Missense_Mutation	SNP	ENST00000261250.3	37	c.1506G>A	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889313	0.91889	.	.	ENSG00000047621	ENST00000261250;ENST00000545746	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	M	0.69523	2.12	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.81302	-0.0994	9	0.87932	D	0	.	19.4376	0.94804	0.0:1.0:0.0:0.0	.	502	Q9NQ89	CL004_HUMAN	I	502	.	ENSP00000261250:M502I	M	-	3	0	C12orf4	4470009	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.084000	0.76866	2.660000	0.90430	0.467000	0.42956	ATG		0.388	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1		NM_020374		31	37	0	0	0	0.007835	0	31	37		
LAG3	3902	broad.mit.edu	37	12	6882428	6882428	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:6882428C>A	ENST00000203629.2	+	2	462	c.129C>A	c.(127-129)ccC>ccA	p.P43P	LAG3_ENST00000441671.2_Silent_p.P43P	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	43	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCCAGCTCCCCTGCAGCCCCA	0.637																																						uc001qqt.3		NaN																	0					0						c.(127-129)CCC>CCA		lymphocyte-activation protein 3 precursor							46.0	48.0	48.0					12																	6882428		2203	4300	6503	SO:0001819	synonymous_variant	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6882428C>A		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.129C>A	12.37:g.6882428C>A						LAG3_uc001qqs.2_Silent_p.P43P|LAG3_uc001qqu.2_Translation_Start_Site	p.P43P	NM_002286	NP_002277	P18627	LAG3_HUMAN			2	478	+			43			Ig-like V-type.|Extracellular (Potential).		A8K7T9|Q7Z643	Silent	SNP	ENST00000203629.2	37	c.129C>A	CCDS8561.1																																																																																				0.637	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1				38	23	1	0	6.2361e-21	0.007835	7.12392e-21	38	23		
APOBEC1	339	broad.mit.edu	37	12	7805283	7805283	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:7805283T>C	ENST00000229304.4	-	3	213	c.193A>G	c.(193-195)Aat>Gat	p.N65D		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	65					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						tttataaaattaaCTTCCACG	0.473																																					Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.2		NaN																	0					0						c.(193-195)AAT>GAT		apolipoprotein B mRNA editing enzyme							29.0	29.0	29.0					12																	7805283		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805283T>C	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.193A>G	12.37:g.7805283T>C	ENSP00000229304:p.Asn65Asp					APOBEC1_uc001qtc.2_Missense_Mutation_p.N20D|APOBEC1_uc010sgf.1_Missense_Mutation_p.N65D	p.N65D	NM_001644	NP_001635	P41238	ABEC1_HUMAN			3	227	-			65					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.193A>G	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.704746	0.30232	.	.	ENSG00000111701	ENST00000229304	T	0.64438	-0.1	4.48	4.48	0.54585	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);	0.000000	0.56097	D	0.000024	T	0.71576	0.3356	M	0.79123	2.44	0.18873	N	0.999985	D	0.53619	0.961	P	0.55749	0.783	T	0.64245	-0.6453	10	0.37606	T	0.19	-27.7088	10.4727	0.44646	0.0:0.0:0.0:1.0	.	65	P41238	ABEC1_HUMAN	D	65	ENSP00000229304:N65D	ENSP00000229304:N65D	N	-	1	0	APOBEC1	7696550	0.981000	0.34729	0.168000	0.22838	0.041000	0.13682	2.395000	0.44459	1.805000	0.52779	0.379000	0.24179	AAT		0.473	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1		NM_001644		2	10	0	0	0	0.004672	0	2	10		
SLC2A3	6515	broad.mit.edu	37	12	8083210	8083210	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:8083210G>T	ENST00000075120.7	-	5	779	c.539C>A	c.(538-540)tCt>tAt	p.S180Y		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	180					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TAGCTCTTCAGACCCAAGGAT	0.438																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(538-540)TCT>TAT		solute carrier family 2 (facilitated glucose							92.0	91.0	91.0					12																	8083210		2203	4300	6503	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8083210G>T	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.539C>A	12.37:g.8083210G>T	ENSP00000075120:p.Ser180Tyr					SLC2A3_uc001qts.2_Missense_Mutation_p.S180Y	p.S180Y	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	5	801	-			180			Extracellular (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.539C>A	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471879	0.43942	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.79940	-1.32	4.38	3.48	0.39840	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.239295	0.43260	D	0.000597	D	0.87888	0.6291	M	0.77820	2.39	0.09310	N	1	P;P	0.41947	0.507;0.766	P;P	0.59424	0.715;0.857	T	0.80859	-0.1194	10	0.87932	D	0	.	12.3472	0.55128	0.0:0.1717:0.8283:0.0	.	106;180	F5H2H8;P11169	.;GTR3_HUMAN	Y	180;106	ENSP00000075120:S180Y	ENSP00000075120:S180Y	S	-	2	0	SLC2A3	7974477	0.003000	0.15002	0.104000	0.21259	0.581000	0.36288	1.225000	0.32551	1.171000	0.42768	0.561000	0.74099	TCT		0.438	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1		NM_006931		29	25	1	0	6.53348e-20	0.003755	7.43811e-20	29	25		
MFAP5	8076	broad.mit.edu	37	12	8800748	8800748	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:8800748G>A	ENST00000359478.2	-	10	648	c.461C>T	c.(460-462)tCc>tTc	p.S154F	MFAP5_ENST00000543369.1_Missense_Mutation_p.S132F|MFAP5_ENST00000396549.2_Missense_Mutation_p.S144F|MFAP5_ENST00000433590.2_Missense_Mutation_p.S129F|MFAP5_ENST00000540087.1_Missense_Mutation_p.S144F|MFAP5_ENST00000535336.1_Missense_Mutation_p.S90F	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	154					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GAAGTAATTGGAGCGACGGAG	0.453																																						uc001qut.1		NaN																	0				breast(1)	1						c.(460-462)TCC>TTC		microfibrillar associated protein 5 precursor							81.0	80.0	80.0					12																	8800748		2203	4300	6503	SO:0001583	missense	8076					microfibril	extracellular matrix structural constituent	g.chr12:8800748G>A	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.461C>T	12.37:g.8800748G>A	ENSP00000352455:p.Ser154Phe					MFAP5_uc001qus.2_Missense_Mutation_p.S144F|MFAP5_uc009zge.1_Missense_Mutation_p.S129F	p.S154F	NM_003480	NP_003471	Q13361	MFAP5_HUMAN			10	674	-	Lung SC(5;0.184)		154					B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	ENST00000359478.2	37	c.461C>T	CCDS8595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.176713|4.176713	0.78564|0.78564	.|.	.|.	ENSG00000197614|ENSG00000197614	ENST00000535411|ENST00000543467;ENST00000359478;ENST00000433590;ENST00000396549;ENST00000543369;ENST00000535336;ENST00000540087	.|.	.|.	.|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.071841	.|0.56097	.|D	.|0.000026	T|T	0.65688|0.65688	0.2715|0.2715	L|L	0.32530|0.32530	0.975|0.975	0.37383|0.37383	D|D	0.9121|0.9121	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.83275	.|0.996;0.996;0.996	T|T	0.71702|0.71702	-0.4513|-0.4513	5|9	.|0.87932	.|D	.|0	-29.8086|-29.8086	13.5224|13.5224	0.61576|0.61576	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|129;154;144	.|B3KW70;Q13361;Q7Z490	.|.;MFAP5_HUMAN;.	S|F	144|60;154;129;144;132;90;144	.|.	.|ENSP00000352455:S154F	P|S	-|-	1|2	0|0	MFAP5|MFAP5	8692015|8692015	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	4.677000|4.677000	0.61634|0.61634	2.646000|2.646000	0.89796|0.89796	0.563000|0.563000	0.77884|0.77884	CCA|TCC		0.453	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2		NM_003480		26	29	0	0	0	0.005524	0	26	29		
PRB3	5544	broad.mit.edu	37	12	11420862	11420862	+	Silent	SNP	T	T	G	rs201524640		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:11420862T>G	ENST00000279573.7	-	3	456	c.321A>C	c.(319-321)ggA>ggC	p.G107G	PRB3_ENST00000538488.1_Silent_p.G107G|PRB3_ENST00000381842.3_Silent_p.G107G|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	107	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGACTGGTTTCCTCCTTGTG	0.632																																						uc001qzs.2		NaN																	0				skin(1)	1						c.(319-321)GGA>GGC		proline-rich protein BstNI subfamily 3																																				SO:0001819	synonymous_variant	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420862T>G			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.321A>C	12.37:g.11420862T>G						PRB4_uc001qzf.1_Intron	p.G107G	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	359	-			107			10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|3.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Silent	SNP	ENST00000279573.7	37	c.321A>C																																																																																					0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5		NM_006249		4	162	0	0	0	0.010729	0	4	162		
STRAP	11171	broad.mit.edu	37	12	16036570	16036570	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:16036570G>T	ENST00000419869.2	+	2	521	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	STRAP_ENST00000538352.1_Intron|STRAP_ENST00000025399.6_Missense_Mutation_p.D83Y	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	70					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				ACTGAATAAGGATGCCACCAA	0.458																																						uc001rdc.3		NaN																	0				skin(1)	1						c.(208-210)GAT>TAT		serine/threonine kinase receptor associated							76.0	66.0	69.0					12																	16036570		2203	4300	6503	SO:0001583	missense	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16036570G>T	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.208G>T	12.37:g.16036570G>T	ENSP00000392270:p.Asp70Tyr					STRAP_uc010shw.1_Missense_Mutation_p.D83Y|STRAP_uc001rdd.3_Intron	p.D70Y	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN			2	562	+		Hepatocellular(102;0.121)	70			WD 2.		B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	ENST00000419869.2	37	c.208G>T	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.895009	0.91962	.	.	ENSG00000023734	ENST00000025399;ENST00000419869	D;D	0.84589	-1.87;-1.87	4.59	4.59	0.56863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047910	0.85682	D	0.000000	D	0.92215	0.7531	M	0.84433	2.695	0.80722	D	1	D;D	0.62365	0.991;0.983	P;P	0.60789	0.827;0.879	D	0.93589	0.6919	10	0.87932	D	0	-21.626	17.9869	0.89158	0.0:0.0:1.0:0.0	.	83;70	B4DNJ6;Q9Y3F4	.;STRAP_HUMAN	Y	83;70	ENSP00000025399:D83Y;ENSP00000392270:D70Y	ENSP00000025399:D83Y	D	+	1	0	STRAP	15927837	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.758000	0.85224	2.542000	0.85734	0.655000	0.94253	GAT		0.458	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1		NM_007178		25	17	1	0	5.91797e-21	0.012213	6.77211e-21	25	17		
SLCO1C1	53919	broad.mit.edu	37	12	20886039	20886039	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:20886039G>C	ENST00000266509.2	+	10	1750		c.e10+1		SLCO1C1_ENST00000545102.1_Splice_Site|SLCO1C1_ENST00000540354.1_Splice_Site|SLCO1C1_ENST00000381552.1_Splice_Site|SLCO1C1_ENST00000545604.1_Splice_Site	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1						sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CCTACCAAGGGTATGTTCCCT	0.363																																						uc001rej.3		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.e11+1		solute carrier organic anion transporter family,							138.0	125.0	129.0					12																	20886039		2203	4300	6503	SO:0001630	splice_region_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20886039G>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1382+1G>C	12.37:g.20886039G>C						SLCO1C1_uc010sii.1_Splice_Site_p.G461_splice|SLCO1C1_uc010sij.1_Splice_Site_p.G412_splice|SLCO1C1_uc009zip.2_Splice_Site_p.G295_splice|SLCO1C1_uc001rei.2_Splice_Site_p.G461_splice|SLCO1C1_uc010sik.1_Splice_Site_p.G343_splice	p.G461_splice	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			11	1737	+	Esophageal squamous(101;0.149)							B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Splice_Site	SNP	ENST00000266509.2	37	c.1382_splice	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253810	0.80135	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7166	0.91678	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLCO1C1	20777306	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.083000	0.94067	2.641000	0.89580	0.591000	0.81541	.		0.363	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1		NM_017435	Intron	72	63	0	0	0	0.00361	0	72	63		
NELL2	4753	broad.mit.edu	37	12	44926364	44926364	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:44926364C>T	ENST00000429094.2	-	16	2308	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	NELL2_ENST00000452445.2_Splice_Site_p.D602N|NELL2_ENST00000437801.2_Splice_Site_p.D652N|NELL2_ENST00000395487.2_Splice_Site_p.D601N|NELL2_ENST00000333837.4_Splice_Site_p.D625N|NELL2_ENST00000549027.1_Splice_Site_p.D601N|NELL2_ENST00000551601.1_Intron	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	602	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.D602N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTGTACTGACCTTCACACGAT	0.403																																						uc001rog.2		NaN																	1	Substitution - Missense(1)	p.D602N(1)	central_nervous_system(1)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1804-1806)GAT>AAT		NEL-like protein 2 isoform b precursor							153.0	134.0	141.0					12																	44926364		2203	4300	6503	SO:0001630	splice_region_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44926364C>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1804+1G>A	12.37:g.44926364C>T						NELL2_uc001rof.3_Missense_Mutation_p.D601N|NELL2_uc001roh.2_Missense_Mutation_p.D602N|NELL2_uc009zkd.2_Intron|NELL2_uc010skz.1_Missense_Mutation_p.D652N|NELL2_uc010sla.1_Missense_Mutation_p.D625N|NELL2_uc001roi.1_Missense_Mutation_p.D602N|NELL2_uc010slb.1_3'UTR	p.D602N	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	16	2399	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	602			EGF-like 6; calcium-binding (Potential).		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.1804G>A	CCDS8746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.427294|5.427294	0.96131|0.96131	.|.	.|.	ENSG00000184613|ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801|ENST00000550139	D;D;D;D;D;D|.	0.99867|.	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31|.	5.72|5.72	5.72|5.72	0.89469|0.89469	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73536|0.73536	0.3599|0.3599	L|L	0.58925|0.58925	1.835|1.835	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.975;1.0;0.999;1.0|.	P;D;D;D|.	0.81914|.	0.85;0.995;0.979;0.995|.	T|T	0.69672|0.69672	-0.5082|-0.5082	10|5	0.52906|.	T|.	0.07|.	-19.8468|-19.8468	19.879|19.879	0.96888|0.96888	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	625;652;602;601|.	B7Z2U7;B7Z9U3;Q99435;Q96JS2|.	.;.;NELL2_HUMAN;.|.	N|K	601;602;602;601;625;652|14	ENSP00000378866:D601N;ENSP00000390680:D602N;ENSP00000394612:D602N;ENSP00000447927:D601N;ENSP00000327988:D625N;ENSP00000416341:D652N|.	ENSP00000327988:D625N|.	D|R	-|-	1|2	0|0	NELL2|NELL2	43212631|43212631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	7.386000|7.386000	0.79775|0.79775	2.695000|2.695000	0.91970|0.91970	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.403	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1		NM_006159	Missense_Mutation	75	67	0	0	0	0.00361	0	75	67		
HDAC7	51564	broad.mit.edu	37	12	48191920	48191920	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:48191920G>C	ENST00000427332.2	-	5	471	c.315C>G	c.(313-315)gtC>gtG	p.V105V	HDAC7_ENST00000380610.4_Silent_p.V161V|HDAC7_ENST00000552960.1_Silent_p.V127V|HDAC7_ENST00000354334.3_Silent_p.V144V|HDAC7_ENST00000080059.7_Silent_p.V144V			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	105	Interaction with MEF2A. {ECO:0000250}.|Transcription repression 1. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TGTTGGGATGGACTGTTCTTT	0.602																																						uc009zkv.1		NaN																	0				lung(1)|breast(1)	2						c.(313-315)GTC>GTG		Synthetic construct DNA, clone: pF1KB0470, Homo sapiens HDAC7 gene for histone deacetylase 7, without stop codon, in Flexi system.							354.0	346.0	349.0					12																	48191920		2203	4300	6503	SO:0001819	synonymous_variant	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48191920G>C	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.315C>G	12.37:g.48191920G>C						HDAC7_uc010slo.1_Silent_p.V144V|HDAC7_uc001rqj.3_Silent_p.V144V|HDAC7_uc001rqk.3_Silent_p.V127V	p.V105V			Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	3	530	-			105			Interaction with MEF2A (By similarity).|Transcription repression 1 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Silent	SNP	ENST00000427332.2	37	c.315C>G																																																																																					0.602	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2				188	214	0	0	0	0.00361	0	188	214		
COL2A1	1280	broad.mit.edu	37	12	48375906	48375906	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:48375906C>A	ENST00000380518.3	-	35	2503	c.2339G>T	c.(2338-2340)gGa>gTa	p.G780V	COL2A1_ENST00000337299.6_Missense_Mutation_p.G711V|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	780	Triple-helical region.		G -> R (in ACG2). {ECO:0000269|PubMed:10797431}.		axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G780E(1)|p.G711E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACCATCCTTTCCAGGGGCTCC	0.617																																						uc001rqu.2		NaN																	2	Substitution - Missense(2)		skin(2)	ovary(1)|skin(1)	2						c.(2338-2340)GGA>GTA		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						114.0	119.0	117.0					12																	48375906		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48375906C>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.2339G>T	12.37:g.48375906C>A	ENSP00000369889:p.Gly780Val					COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.G711V	p.G780V	NM_001844	NP_001835	P02458	CO2A1_HUMAN			35	2520	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	780		G -> R (in ACG2).	Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.2339G>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868643	0.91587	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.99637	-6.29;-6.29	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	H	0.99668	4.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.97110	0.998;1.0	D	0.96369	0.9272	10	0.87932	D	0	.	18.4289	0.90618	0.0:1.0:0.0:0.0	.	711;780	P02458-1;P02458	.;CO2A1_HUMAN	V	780;711;711	ENSP00000369889:G780V;ENSP00000338213:G711V	ENSP00000338213:G711V	G	-	2	0	COL2A1	46662173	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.645000	0.89757	0.462000	0.41574	GGA		0.617	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2		NM_001844		79	126	1	0	1.33835e-49	0.00361	1.58602e-49	79	126		
ZNF641	121274	broad.mit.edu	37	12	48739259	48739259	+	Splice_Site	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:48739259T>A	ENST00000544117.2	-	4	1027		c.e4-2		ZNF641_ENST00000448928.3_Intron|ZNF641_ENST00000301042.3_Splice_Site|ZNF641_ENST00000547026.1_Splice_Site			Q96N77	ZN641_HUMAN	zinc finger protein 641						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TACCAGGCCCTGAAACAAAAT	0.448																																						uc001rrn.1		NaN																	0				ovary(1)|pancreas(1)	2						c.e4-1		zinc finger protein 641							73.0	72.0	72.0					12																	48739259		2203	4300	6503	SO:0001630	splice_region_variant	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48739259T>A	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.319-2A>T	12.37:g.48739259T>A						ZNF641_uc001rro.1_Splice_Site_p.G93_splice|ZNF641_uc010sls.1_Intron	p.G107_splice	NM_152320	NP_689533	Q96N77	ZN641_HUMAN			4	484	-								B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Splice_Site	SNP	ENST00000544117.2	37	c.319_splice	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.774703	0.70107	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000547026;ENST00000548932;ENST00000550181	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9163	0.63899	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF641	47025526	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.359000	0.52292	2.243000	0.73865	0.533000	0.62120	.		0.448	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1		NM_152320	Intron	33	34	0	0	0	0.00361	0	33	34		
KMT2D	8085	broad.mit.edu	37	12	49420164	49420164	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:49420164C>G	ENST00000301067.7	-	48	15584	c.15585G>C	c.(15583-15585)caG>caC	p.Q5195H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5195	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGTCAGCCATCTGGTGAGGCA	0.587																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15583-15585)CAG>CAC		myeloid/lymphoid or mixed-lineage leukemia 2							40.0	43.0	42.0					12																	49420164		2141	4228	6369	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420164C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15585G>C	12.37:g.49420164C>G	ENSP00000301067:p.Gln5195His	HNSCC(34;0.089)					p.Q5195H	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15585	-			5195			FYR N-terminal.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15585G>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383083	0.25031	.	.	ENSG00000167548	ENST00000301067	T	0.78816	-1.21	5.12	3.24	0.37175	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.34828	N	0.003645	T	0.77377	0.4121	M	0.78456	2.415	0.49389	D	0.999787	B	0.29301	0.241	B	0.33042	0.157	T	0.75703	-0.3225	10	0.87932	D	0	.	9.9677	0.41734	0.0:0.783:0.139:0.078	.	5195	O14686	MLL2_HUMAN	H	5195	ENSP00000301067:Q5195H	ENSP00000301067:Q5195H	Q	-	3	2	MLL2	47706431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.079000	0.50104	0.640000	0.30582	0.655000	0.94253	CAG		0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				19	26	0	0	0	0.00278	0	19	26		
KMT2D	8085	broad.mit.edu	37	12	49420438	49420438	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:49420438C>T	ENST00000301067.7	-	48	15310	c.15311G>A	c.(15310-15312)tGc>tAc	p.C5104Y		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5104					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CATGCGATTGCAGCTGCTGGT	0.562																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15310-15312)TGC>TAC		myeloid/lymphoid or mixed-lineage leukemia 2							57.0	59.0	58.0					12																	49420438		2157	4255	6412	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420438C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15311G>A	12.37:g.49420438C>T	ENSP00000301067:p.Cys5104Tyr	HNSCC(34;0.089)					p.C5104Y	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15311	-			5104			RING-type 4; degenerate.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15311G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130791	0.37630	.	.	ENSG00000167548	ENST00000301067	D	0.84944	-1.92	4.77	4.77	0.60923	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.39909	N	0.001225	D	0.94311	0.8172	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95759	0.8799	10	0.87932	D	0	.	16.9322	0.86193	0.0:1.0:0.0:0.0	.	5104	O14686	MLL2_HUMAN	Y	5104	ENSP00000301067:C5104Y	ENSP00000301067:C5104Y	C	-	2	0	MLL2	47706705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.377000	0.81083	0.561000	0.74099	TGC		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				32	32	0	0	0	0.003271	0	32	32		
TUBA1A	7846	broad.mit.edu	37	12	49579351	49579351	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:49579351G>C	ENST00000295766.5	-	4	1277	c.798C>G	c.(796-798)caC>caG	p.H266Q	TUBA1A_ENST00000301071.7_Missense_Mutation_p.H266Q|TUBA1A_ENST00000550767.1_Missense_Mutation_p.H231Q	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	266					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	CCAGAGGGAAGTGGATGCGGG	0.512																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	uc009zlf.2		NaN																	0					0						c.(796-798)CAC>CAG		tubulin, alpha 1a							96.0	95.0	95.0					12																	49579351		2203	4300	6503	SO:0001583	missense	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49579351G>C	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.798C>G	12.37:g.49579351G>C	ENSP00000439020:p.His266Gln					TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.H266Q|TUBA1A_uc001rtq.2_Missense_Mutation_p.H113Q|TUBA1A_uc001rtr.2_Missense_Mutation_p.H113Q|TUBA1A_uc009zlg.2_Missense_Mutation_p.H113Q	p.H266Q	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN			4	1070	-			266					A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	c.798C>G	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.529071	0.27387	.	.	ENSG00000167552	ENST00000301071;ENST00000548405;ENST00000295766;ENST00000550767	D;D;D	0.86956	-2.19;-2.19;-2.19	5.1	4.08	0.47627	Tubulin/FtsZ, 2-layer sandwich domain (2);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95739	0.8614	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94985	0.8129	10	0.87932	D	0	.	7.1021	0.25343	0.1971:0.0:0.8029:0.0	.	266	Q71U36	TBA1A_HUMAN	Q	266;113;266;231	ENSP00000301071:H266Q;ENSP00000439020:H266Q;ENSP00000446637:H231Q	ENSP00000439020:H266Q	H	-	3	2	TUBA1A	47865618	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.936000	0.40183	2.391000	0.81399	0.556000	0.70494	CAC		0.512	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2		NM_006009		18	95	0	0	0	0.003954	0	18	95		
DNAJC22	79962	broad.mit.edu	37	12	49745187	49745187	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:49745187C>A	ENST00000549441.2	+	4	2132	c.928C>A	c.(928-930)Ctg>Atg	p.L310M	DNAJC22_ENST00000395069.3_Missense_Mutation_p.L310M			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	310	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						AGACCACAACCTGGACCAGAC	0.542																																						uc001rua.2		NaN																	0				ovary(1)	1						c.(928-930)CTG>ATG		DnaJ (Hsp40) homolog, subfamily C, member 22							61.0	62.0	62.0					12																	49745187		2203	4300	6503	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49745187C>A	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.928C>A	12.37:g.49745187C>A	ENSP00000446830:p.Leu310Met					DNAJC22_uc001rub.2_Missense_Mutation_p.L310M	p.L310M	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN			3	1329	+			310			J.		B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.928C>A	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182577	0.57800	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.29655	1.56;1.56	5.5	-2.32	0.06745	Heat shock protein DnaJ, N-terminal (5);	0.463361	0.24443	N	0.038493	T	0.17195	0.0413	N	0.17345	0.48	0.09310	N	0.99999	P	0.48911	0.917	P	0.46419	0.516	T	0.17228	-1.0376	10	0.62326	D	0.03	0.0311	4.2945	0.10895	0.3407:0.3866:0.0:0.2727	.	310	Q8N4W6	DJC22_HUMAN	M	310	ENSP00000446830:L310M;ENSP00000378508:L310M	ENSP00000378508:L310M	L	+	1	2	DNAJC22	48031454	0.009000	0.17119	0.015000	0.15790	0.985000	0.73830	0.170000	0.16663	-0.281000	0.09141	-0.266000	0.10368	CTG		0.542	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2		NM_024902		25	33	1	0	1.13719e-10	0.008361	1.22354e-10	25	33		
NCKAP5L	57701	broad.mit.edu	37	12	50189721	50189721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:50189721G>T	ENST00000335999.6	-	8	2123	c.1922C>A	c.(1921-1923)tCa>tAa	p.S641*		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	637										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTTCTTGGATGAGTTGCCTGG	0.652																																						uc009zlk.2		NaN																	0				central_nervous_system(1)	1						c.(1921-1923)TCA>TAA		NCK-associated protein 5-like							13.0	16.0	15.0					12																	50189721		1860	4124	5984	SO:0001587	stop_gained	57701							g.chr12:50189721G>T	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.1922C>A	12.37:g.50189721G>T	ENSP00000337998:p.Ser641*					NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_Nonsense_Mutation_p.S234*	p.S641*	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			8	2124	-			637					Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Nonsense_Mutation	SNP	ENST00000335999.6	37	c.1922C>A	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	G	39	7.808591	0.98501	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	.	.	.	4.83	4.83	0.62350	.	0.206673	0.24542	N	0.037636	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9586	15.221	0.73310	0.0:0.0:1.0:0.0	.	.	.	.	X	641;637	.	ENSP00000337998:S641X	S	-	2	0	NCKAP5L	48475988	1.000000	0.71417	0.957000	0.39632	0.946000	0.59487	4.032000	0.57274	2.400000	0.81607	0.561000	0.74099	TCA		0.652	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2		XM_035497		6	2	1	0	2.0095e-06	0.001984	2.08462e-06	6	2		
ACVRL1	94	broad.mit.edu	37	12	52312784	52312784	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:52312784A>G	ENST00000388922.4	+	9	1545	c.1262A>G	c.(1261-1263)tAt>tGt	p.Y421C	ACVRL1_ENST00000550683.1_Missense_Mutation_p.Y435C|ACVRL1_ENST00000419526.2_Missense_Mutation_p.Y247C	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	421	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GTGGAGGACTATAGACCACCC	0.532																																						uc001rzj.2		NaN																	0				lung(2)	2						c.(1261-1263)TAT>TGT		activin A receptor type II-like 1 precursor	Adenosine triphosphate(DB00171)						171.0	135.0	147.0					12																	52312784		2203	4300	6503	SO:0001583	missense	94	Hereditary_Hemorrhagic_Telangiectasia			blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52312784A>G	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1262A>G	12.37:g.52312784A>G	ENSP00000373574:p.Tyr421Cys					ACVRL1_uc001rzk.2_Missense_Mutation_p.Y421C|ACVRL1_uc010snm.1_Missense_Mutation_p.Y247C	p.Y421C	NM_000020	NP_000011	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	9	1545	+			421			Cytoplasmic (Potential).|Protein kinase.		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.1262A>G	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.136271	0.77662	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D	0.93604	-3.25;-3.25;-3.25	4.99	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.36854	N	0.002373	D	0.95236	0.8455	L	0.49256	1.55	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.958;0.999	D	0.95637	0.8695	10	0.87932	D	0	.	14.102	0.65062	1.0:0.0:0.0:0.0	.	247;421	E7EN07;P37023	.;ACVL1_HUMAN	C	421;421;435;247;247	ENSP00000373574:Y421C;ENSP00000447884:Y435C;ENSP00000392492:Y247C	ENSP00000267008:Y421C	Y	+	2	0	ACVRL1	50599051	1.000000	0.71417	0.990000	0.47175	0.975000	0.68041	9.139000	0.94554	2.234000	0.73211	0.459000	0.35465	TAT		0.532	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2				52	54	0	0	0	0.00361	0	52	54		
KRT85	3891	broad.mit.edu	37	12	52758771	52758771	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:52758771C>T	ENST00000257901.3	-	2	679	c.604G>A	c.(604-606)Gag>Aag	p.E202K	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	202	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGCACCTCCTGCACATGG	0.622																																						uc001sag.2		NaN																	0				ovary(1)	1						c.(604-606)GAG>AAG		keratin 85							106.0	113.0	111.0					12																	52758771		2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52758771C>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.604G>A	12.37:g.52758771C>T	ENSP00000257901:p.Glu202Lys						p.E202K	NM_002283	NP_002274	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	724	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		202			Rod.|Coil 1B.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.604G>A	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134950	0.94517	.	.	ENSG00000135443	ENST00000257901	T	0.74421	-0.84	4.7	4.7	0.59300	Filament (1);	0.000000	0.56097	D	0.000024	T	0.80444	0.4624	M	0.76433	2.335	0.80722	D	1	P	0.36874	0.572	B	0.44278	0.445	D	0.83589	0.0122	10	0.87932	D	0	.	17.8332	0.88688	0.0:1.0:0.0:0.0	.	202	P78386	KRT85_HUMAN	K	202	ENSP00000257901:E202K	ENSP00000257901:E202K	E	-	1	0	KRT85	51045038	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	1.649000	0.37281	2.442000	0.82660	0.491000	0.48974	GAG		0.622	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1		NM_002283		99	157	0	0	0	0.00361	0	99	157		
GDF11	10220	broad.mit.edu	37	12	56143318	56143318	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:56143318C>G	ENST00000257868.5	+	3	913	c.876C>G	c.(874-876)aaC>aaG	p.N292K		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	292					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						TCCTAGAGAACACAAAACGTT	0.547																																						uc001shq.2		NaN																	0				kidney(1)	1						c.(874-876)AAC>AAG		growth differentiation factor 11 precursor							69.0	72.0	71.0					12																	56143318		2203	4300	6503	SO:0001583	missense	10220				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:56143318C>G	AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.876C>G	12.37:g.56143318C>G	ENSP00000257868:p.Asn292Lys					GDF11_uc010spv.1_Missense_Mutation_p.N292K	p.N292K	NM_005811	NP_005802	O95390	GDF11_HUMAN			3	913	+			292					Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	c.876C>G	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.89|13.89	2.373512|2.373512	0.42105|0.42105	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	T|.	0.75704|.	-0.96|.	4.95|4.95	4.04|4.04	0.47022|0.47022	.|.	0.051340|.	0.85682|.	D|.	0.000000|.	T|T	0.47097|0.47097	0.1427|0.1427	L|L	0.29908|0.29908	0.895|0.895	0.34493|0.34493	D|D	0.705209|0.705209	B|.	0.12630|.	0.006|.	B|.	0.25759|.	0.063|.	T|T	0.55218|0.55218	-0.8175|-0.8175	10|5	0.34782|.	T|.	0.22|.	-20.9548|-20.9548	11.9669|11.9669	0.53040|0.53040	0.0:0.9089:0.0:0.0911|0.0:0.9089:0.0:0.0911	.|.	292|.	O95390|.	GDF11_HUMAN|.	K|R	292|265	ENSP00000257868:N292K|.	ENSP00000257868:N292K|.	N|T	+|+	3|2	2|0	GDF11|GDF11	54429585|54429585	0.029000|0.029000	0.19370|0.19370	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.054000|0.054000	0.14205|0.14205	2.470000|2.470000	0.83445|0.83445	0.561000|0.561000	0.74099|0.74099	AAC|ACA		0.547	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3				25	74	0	0	0	0.008361	0	25	74		
PAN2	9924	broad.mit.edu	37	12	56713447	56713447	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:56713447C>A	ENST00000425394.2	-	22	3436	c.3060G>T	c.(3058-3060)gaG>gaT	p.E1020D	PAN2_ENST00000257931.5_Missense_Mutation_p.E1019D|PAN2_ENST00000440411.3_Missense_Mutation_p.E1016D|PAN2_ENST00000549090.1_5'Flank|PAN2_ENST00000548043.1_Missense_Mutation_p.E1020D	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	AGGGGATACCCTCATTGGGTC	0.498																																						uc001skx.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(3058-3060)GAG>GAT		PAN2 polyA specific ribonuclease subunit homolog							140.0	123.0	129.0					12																	56713447		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56713447C>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.3060G>T	12.37:g.56713447C>A	ENSP00000401721:p.Glu1020Asp					PAN2_uc001skw.2_Missense_Mutation_p.E168D|PAN2_uc001skz.2_Missense_Mutation_p.E1019D|PAN2_uc001sky.2_Missense_Mutation_p.E1016D	p.E1020D	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			22	3433	-			1020			Exonuclease.			Missense_Mutation	SNP	ENST00000425394.2	37	c.3060G>T	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836184	0.71373	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.66	4.76	0.60689	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.35038	0.0918	L	0.58669	1.825	0.58432	D	0.999999	P;P;P	0.45986	0.843;0.843;0.87	B;B;P	0.48334	0.439;0.343;0.574	T	0.06373	-1.0830	10	0.59425	D	0.04	-24.6321	14.6416	0.68729	0.0:0.9245:0.0:0.0755	.	1019;1016;1020	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	D	1020;1016;1019;1020	ENSP00000401721:E1020D;ENSP00000388231:E1016D;ENSP00000257931:E1019D;ENSP00000449861:E1020D	ENSP00000257931:E1019D	E	-	3	2	PAN2	54999714	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.450000	0.44943	2.840000	0.97914	0.655000	0.94253	GAG		0.498	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1		NM_014871		13	50	1	0	9.31168e-06	0.001855	9.58513e-06	13	50		
ATP5B	506	broad.mit.edu	37	12	57033894	57033894	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:57033894G>A	ENST00000262030.3	-	8	1207	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Missense_Mutation_p.S375L	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	386					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATGGCACGCGACAGTACAGT	0.512																																						uc001slr.2		NaN																	0				ovary(1)	1						c.(1156-1158)TCG>TTG		mitochondrial ATP synthase beta subunit							139.0	114.0	122.0					12																	57033894		2203	4300	6503	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57033894G>A	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1157C>T	12.37:g.57033894G>A	ENSP00000262030:p.Ser386Leu						p.S386L	NM_001686	NP_001677	P06576	ATPB_HUMAN			8	1262	-			386					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.1157C>T	CCDS8924.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367637	0.82463	.	.	ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104;ENST00000551570	D;D;D	0.81499	-1.5;-1.5;-1.5	5.77	5.77	0.91146	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94568	0.8250	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96586	0.9434	10	0.87932	D	0	-18.6154	18.7629	0.91860	0.0:0.0:1.0:0.0	.	386	P06576	ATPB_HUMAN	L	386;375;89;130	ENSP00000262030:S386L;ENSP00000450297:S375L;ENSP00000448428:S130L	ENSP00000262030:S386L	S	-	2	0	ATP5B	55320161	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.653000	0.98506	2.723000	0.93209	0.655000	0.94253	TCG		0.512	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1		NM_001686		23	44	0	0	0	0.004656	0	23	44		
BEST3	144453	broad.mit.edu	37	12	70070964	70070964	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:70070964G>A	ENST00000330891.5	-	6	936	c.710C>T	c.(709-711)aCc>aTc	p.T237I	BEST3_ENST00000553096.1_Missense_Mutation_p.T131I|BEST3_ENST00000476098.1_Missense_Mutation_p.T75I|BEST3_ENST00000331471.4_Missense_Mutation_p.T237I|BEST3_ENST00000488961.1_Missense_Mutation_p.T75I	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	237					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCTTACCTGGGTGTAAACCAG	0.478																																						uc001svg.2		NaN																	0					0						c.(709-711)ACC>ATC		vitelliform macular dystrophy 2-like 3 isoform							53.0	53.0	53.0					12																	70070964		1888	4103	5991	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70070964G>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.710C>T	12.37:g.70070964G>A	ENSP00000332413:p.Thr237Ile					BEST3_uc001svd.1_Missense_Mutation_p.T237I|BEST3_uc001sve.1_RNA|BEST3_uc001svf.2_Missense_Mutation_p.T75I|BEST3_uc010stm.1_Missense_Mutation_p.T131I|BEST3_uc001svh.2_Missense_Mutation_p.T75I	p.T237I	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		6	937	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		237					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.710C>T	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	33	5.271071	0.95429	.	.	ENSG00000127325	ENST00000331471;ENST00000488961;ENST00000330891;ENST00000553096;ENST00000476098;ENST00000552295	D;D;D;D;D;D	0.98876	-5.2;-5.2;-5.2;-5.2;-5.2;-5.2	5.77	5.77	0.91146	.	0.099715	0.64402	D	0.000002	D	0.99384	0.9783	M	0.92880	3.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98905	1.0778	10	0.54805	T	0.06	-22.4464	19.9915	0.97366	0.0:0.0:1.0:0.0	.	75;237;75;237	E9PNM2;Q8N1M1;B5MDI8;Q8N1M1-1	.;BEST3_HUMAN;.;.	I	237;75;237;131;75;131	ENSP00000329064:T237I;ENSP00000433213:T75I;ENSP00000332413:T237I;ENSP00000449548:T131I;ENSP00000434713:T75I;ENSP00000447689:T131I	ENSP00000332413:T237I	T	-	2	0	BEST3	68357231	1.000000	0.71417	0.990000	0.47175	0.936000	0.57629	9.869000	0.99810	2.723000	0.93209	0.655000	0.94253	ACC		0.478	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2		NM_152439		4	16	0	0	0	0.009096	0	4	16		
ALX1	8092	broad.mit.edu	37	12	85695132	85695132	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:85695132C>T	ENST00000316824.3	+	4	1015	c.860C>T	c.(859-861)aCt>aTt	p.T287I		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	287					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|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)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TCTCTTCTTACTGGGGCAACC	0.493																																						uc001tae.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(859-861)ACT>ATT		cartilage paired-class homeoprotein 1							101.0	99.0	100.0					12																	85695132		2203	4299	6502	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85695132C>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.860C>T	12.37:g.85695132C>T	ENSP00000315417:p.Thr287Ile						p.T287I	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	4	864	+			287					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.860C>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908160	0.52333	.	.	ENSG00000180318	ENST00000316824	D	0.92495	-3.05	5.99	5.99	0.97316	.	0.228769	0.49305	D	0.000153	D	0.86033	0.5836	N	0.08118	0	0.45129	D	0.998146	B	0.20164	0.042	B	0.21917	0.037	T	0.80246	-0.1462	10	0.56958	D	0.05	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	287	Q15699	ALX1_HUMAN	I	287	ENSP00000315417:T287I	ENSP00000315417:T287I	T	+	2	0	ALX1	84219263	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	3.777000	0.55364	2.840000	0.97914	0.655000	0.94253	ACT		0.493	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1		NM_006982		18	51	0	0	0	0.008871	0	18	51		
CEP290	80184	broad.mit.edu	37	12	88482860	88482860	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:88482860C>A	ENST00000552810.1	-	31	4321	c.3978G>T	c.(3976-3978)aaG>aaT	p.K1326N	CEP290_ENST00000309041.7_Missense_Mutation_p.K1328N|CEP290_ENST00000547691.2_Missense_Mutation_p.K386N|CEP290_ENST00000397838.3_Missense_Mutation_p.K386N	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1326					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTTCCAGGCCCTTTAATTTTA	0.294																																						uc001tar.2		NaN																	0				ovary(5)|breast(1)|pancreas(1)	7						c.(3976-3978)AAG>AAT		centrosomal protein 290kDa							78.0	73.0	74.0					12																	88482860		1797	4064	5861	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88482860C>A	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3978G>T	12.37:g.88482860C>A	ENSP00000448012:p.Lys1326Asn					CEP290_uc001taq.2_Missense_Mutation_p.K386N	p.K1326N	NM_025114	NP_079390	O15078	CE290_HUMAN			31	4322	-			1326			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.3978G>T	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246146	0.59103	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.66995	0.33;-0.24;-0.24;0.33	5.57	1.64	0.23874	.	0.166220	0.56097	D	0.000022	T	0.71771	0.3379	M	0.64997	1.995	0.36544	D	0.871452	D	0.76494	0.999	D	0.67231	0.95	T	0.71062	-0.4701	10	0.23891	T	0.37	.	7.0224	0.24922	0.0:0.4669:0.0:0.5331	.	1326	O15078	CE290_HUMAN	N	386;1326;1328;386	ENSP00000446905:K386N;ENSP00000448012:K1326N;ENSP00000308021:K1328N;ENSP00000380938:K386N	ENSP00000308021:K1328N	K	-	3	2	CEP290	87006991	1.000000	0.71417	0.994000	0.49952	0.755000	0.42902	1.747000	0.38298	0.697000	0.31718	0.591000	0.81541	AAG		0.294	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1		NM_025114		17	12	1	0	3.62473e-10	0.012319	3.88114e-10	17	12		
ATP2B1	490	broad.mit.edu	37	12	90004246	90004246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:90004246G>A	ENST00000428670.3	-	14	2743	c.2287C>T	c.(2287-2289)Cga>Tga	p.R763*	ATP2B1_ENST00000393164.2_Nonsense_Mutation_p.R506*|ATP2B1_ENST00000359142.3_Nonsense_Mutation_p.R763*|ATP2B1_ENST00000261173.2_Nonsense_Mutation_p.R763*|ATP2B1_ENST00000348959.3_Nonsense_Mutation_p.R763*			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	763					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GCAAGTACTCGAAGTTTTGGC	0.323																																						uc001tbh.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2287-2289)CGA>TGA		plasma membrane calcium ATPase 1 isoform 1b							200.0	185.0	190.0					12																	90004246		2203	4300	6503	SO:0001587	stop_gained	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90004246G>A	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2287C>T	12.37:g.90004246G>A	ENSP00000392043:p.Arg763*					ATP2B1_uc001tbg.2_Nonsense_Mutation_p.R763*|ATP2B1_uc001tbf.2_Nonsense_Mutation_p.R433*	p.R763*	NM_001682	NP_001673	P20020	AT2B1_HUMAN			13	2468	-			763			Cytoplasmic (Potential).		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Nonsense_Mutation	SNP	ENST00000428670.3	37	c.2287C>T	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	G	45	11.703473	0.99593	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.652	19.511	0.95141	0.0:0.0:1.0:0.0	.	.	.	.	X	763;763;763;763;506	.	ENSP00000261173:R763X	R	-	1	2	ATP2B1	88528377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.927000	0.87577	2.661000	0.90470	0.650000	0.86243	CGA		0.323	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1		NM_001682		43	123	0	0	0	0.00361	0	43	123		
ANKS1B	56899	broad.mit.edu	37	12	100048914	100048914	+	Silent	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:100048914T>A	ENST00000547776.2	-	9	1202	c.1203A>T	c.(1201-1203)ccA>ccT	p.P401P	ANKS1B_ENST00000547010.1_5'UTR|ANKS1B_ENST00000329257.7_Silent_p.P401P	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	401						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AAAGTCCTGATGGCCCACACG	0.393																																						uc001tge.1		NaN																	0					0						c.(1201-1203)CCA>CCT		cajalin 2 isoform a							124.0	122.0	123.0					12																	100048914		1911	4119	6030	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100048914T>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1203A>T	12.37:g.100048914T>A						ANKS1B_uc001tgf.1_5'UTR|ANKS1B_uc009ztt.1_Silent_p.P367P	p.P401P	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	9	1620	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	401					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.1203A>T	CCDS55872.1																																																																																				0.393	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3		NM_020140		16	12	0	0	0	0.008871	0	16	12		
GLTP	51228	broad.mit.edu	37	12	110290444	110290444	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:110290444G>C	ENST00000318348.4	-	5	659	c.546C>G	c.(544-546)ctC>ctG	p.L182L	GLTP_ENST00000544393.1_Silent_p.L163L	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	182					glycolipid transport (GO:0046836)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|lipid binding (GO:0008289)			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		TGACTAGGAAGAGGCGGATCT	0.537											OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001tpm.2		NaN																	0					0						c.(544-546)CTC>CTG		glycolipid transfer protein							316.0	284.0	295.0					12																	110290444		2203	4300	6503	SO:0001819	synonymous_variant	51228					cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr12:110290444G>C	AF209704, AY372530	CCDS9136.1	12q24.11	2008-08-08			ENSG00000139433	ENSG00000139433			24867	protein-coding gene	gene with protein product		608949				15287756, 15901739	Standard	NM_016433		Approved		uc001tpm.3	Q9NZD2	OTTHUMG00000169278	ENST00000318348.4:c.546C>G	12.37:g.110290444G>C			OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1426	GLTP_uc010sxt.1_RNA	p.L182L	NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0025)	5	660	-		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)	182					Q53Z13|Q96J68	Silent	SNP	ENST00000318348.4	37	c.546C>G	CCDS9136.1	.	.	.	.	.	.	.	.	.	.	G	9.408	1.079896	0.20309	.	.	ENSG00000139433	ENST00000540772	.	.	.	5.11	3.26	0.37387	.	0.131203	0.52532	D	0.000080	T	0.56514	0.1990	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49283	-0.8956	6	0.30078	T	0.28	.	8.9379	0.35711	0.081:0.3998:0.5191:0.0	.	.	.	.	V	156	.	ENSP00000440136:L156V	L	-	1	0	GLTP	108774827	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.547000	0.23299	0.650000	0.30769	-0.145000	0.13849	CTT		0.537	GLTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403278.2		NM_016433		140	213	0	0	0	0.00361	0	140	213		
HECTD4	283450	broad.mit.edu	37	12	112720937	112720937	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:112720937T>C	ENST00000430131.2	-	8	1468	c.323A>G	c.(322-324)aAc>aGc	p.N108S	HECTD4_ENST00000550722.1_Missense_Mutation_p.N358S|HECTD4_ENST00000377560.5_Missense_Mutation_p.N358S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	108					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTTCAGTGTGTTGGAGATGGT	0.478																																						uc009zwc.2		NaN																	0				ovary(1)|lung(1)	2						c.(322-324)AAC>AGC		chromosome 12 open reading frame 51							95.0	94.0	94.0					12																	112720937		2005	4174	6179	SO:0001583	missense	283450							g.chr12:112720937T>C	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.323A>G	12.37:g.112720937T>C	ENSP00000404379:p.Asn108Ser						p.N108S	NM_001109662	NP_001103132					2	341	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.323A>G		.	.	.	.	.	.	.	.	.	.	T	22.2	4.259411	0.80246	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.45276	0.92;0.94;0.9	5.58	5.58	0.84498	.	.	.	.	.	T	0.44371	0.1290	N	0.08118	0	0.44711	D	0.997707	P	0.52842	0.956	D	0.65010	0.931	T	0.56068	-0.8040	9	0.72032	D	0.01	.	15.7991	0.78436	0.0:0.0:0.0:1.0	.	108	Q9Y4D8	K0614_HUMAN	S	358;108;358	ENSP00000366783:N358S;ENSP00000404379:N108S;ENSP00000449784:N358S	ENSP00000366783:N358S	N	-	2	0	C12orf51	111205320	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.665000	0.83852	2.148000	0.66965	0.454000	0.30748	AAC		0.478	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813		27	18	0	0	0	0.00623	0	27	18		
RASAL1	8437	broad.mit.edu	37	12	113565880	113565880	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:113565880C>A	ENST00000261729.5	-	4	541	c.226G>T	c.(226-228)Gac>Tac	p.D76Y	RASAL1_ENST00000546530.1_Missense_Mutation_p.D76Y|RASAL1_ENST00000446861.3_Missense_Mutation_p.D76Y|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.D76Y			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	76	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCGACAGTGTCCTCATCCAGC	0.617																																						uc001tum.1		NaN																	0				ovary(2)|skin(2)	4						c.(226-228)GAC>TAC		RAS protein activator like 1							255.0	249.0	251.0					12																	113565880		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113565880C>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.226G>T	12.37:g.113565880C>A	ENSP00000261729:p.Asp76Tyr					RASAL1_uc010syp.1_Missense_Mutation_p.D76Y|RASAL1_uc001tul.2_Missense_Mutation_p.D76Y|RASAL1_uc001tun.1_Missense_Mutation_p.D76Y|RASAL1_uc010syq.1_Missense_Mutation_p.D76Y|RASAL1_uc001tuo.3_Missense_Mutation_p.D76Y|RASAL1_uc010syr.1_Missense_Mutation_p.D76Y	p.D76Y	NM_004658	NP_004649	O95294	RASL1_HUMAN			4	519	-			76			C2 1.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.226G>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168268	0.57476	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	4.89	4.89	0.63831	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.58250	0.2109	H	0.99143	4.445	0.52099	D	0.99994	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	0.78540	-0.2165	10	0.87932	D	0	.	16.8327	0.85949	0.0:1.0:0.0:0.0	.	76;76;76;88;76;76;76	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	Y	76	ENSP00000450244:D76Y;ENSP00000261729:D76Y;ENSP00000395920:D76Y;ENSP00000448510:D76Y	ENSP00000261729:D76Y	D	-	1	0	RASAL1	112050263	1.000000	0.71417	0.926000	0.36857	0.202000	0.24057	7.061000	0.76699	2.282000	0.76494	0.591000	0.81541	GAC		0.617	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2		NM_004658		309	201	1	0	1.72433e-176	0.00361	2.07293e-176	309	201		
NOS1	4842	broad.mit.edu	37	12	117724011	117724011	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:117724011A>G	ENST00000338101.4	-	5	1192	c.1188T>C	c.(1186-1188)acT>acC	p.T396T	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.T396T			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GGTAAGTGCTAGTGGTGTCGA	0.562																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NaN																	0				ovary(3)|skin(3)|pancreas(1)	7						c.(1186-1188)ACT>ACC		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						191.0	186.0	188.0					12																	117724011		2156	4290	6446	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117724011A>G		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1188T>C	12.37:g.117724011A>G							p.T396T	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	6	1874	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		396						Silent	SNP	ENST00000338101.4	37	c.1188T>C	CCDS55890.1																																																																																				0.562	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1				14	31	0	0	0	0.003163	0	14	31		
KSR2	283455	broad.mit.edu	37	12	118293355	118293355	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:118293355T>G	ENST00000339824.5	-	3	1077	c.350A>C	c.(349-351)gAg>gCg	p.E117A	KSR2_ENST00000425217.1_Missense_Mutation_p.E88A			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	117					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGAGGTCCTCCAGGCTCAG	0.612																																						uc001two.2		NaN																	0				lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(262-264)GAG>GCG		kinase suppressor of ras 2							57.0	62.0	61.0					12																	118293355		2040	4213	6253	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118293355T>G	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.350A>C	12.37:g.118293355T>G	ENSP00000339952:p.Glu117Ala						p.E88A	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			3	318	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		117					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.263A>C		.	.	.	.	.	.	.	.	.	.	T	24.4	4.529710	0.85706	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.82803	-1.65;-1.63	4.49	4.49	0.54785	.	.	.	.	.	D	0.87661	0.6233	L	0.49126	1.545	0.49582	D	0.999804	D	0.57257	0.979	D	0.71414	0.973	D	0.88706	0.3219	9	0.72032	D	0.01	.	13.2489	0.60039	0.0:0.0:0.0:1.0	.	117	Q6VAB6	KSR2_HUMAN	A	88;117	ENSP00000389715:E88A;ENSP00000339952:E117A	ENSP00000339952:E117A	E	-	2	0	KSR2	116777738	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.683000	0.84093	2.034000	0.60081	0.374000	0.22700	GAG		0.612	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2		NM_173598		26	20	0	0	0	0.009535	0	26	20		
VSIG10	54621	broad.mit.edu	37	12	118511557	118511557	+	Missense_Mutation	SNP	C	C	G	rs560884623	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:118511557C>G	ENST00000359236.5	-	5	1442	c.1166G>C	c.(1165-1167)cGa>cCa	p.R389P		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	389	Ig-like C2-type 4.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GCTGTCAGCTCGGCAGATGTA	0.577																																						uc001tws.2		NaN																	0					0						c.(1165-1167)CGA>CCA		V-set and immunoglobulin domain containing 10							93.0	93.0	93.0					12																	118511557		2040	4208	6248	SO:0001583	missense	54621					integral to membrane		g.chr12:118511557C>G		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1166G>C	12.37:g.118511557C>G	ENSP00000352172:p.Arg389Pro						p.R389P	NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN			5	1500	-			389			Ig-like C2-type 4.|Extracellular (Potential).		Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	c.1166G>C	CCDS44992.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.944900	0.53079	.	.	ENSG00000176834	ENST00000359236	T	0.68331	-0.32	5.65	3.81	0.43845	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.359414	0.20568	N	0.089791	T	0.77164	0.4090	M	0.83312	2.635	0.21416	N	0.999698	D	0.76494	0.999	D	0.63703	0.917	T	0.65804	-0.6079	10	0.23891	T	0.37	-26.0873	7.3987	0.26952	0.0:0.6358:0.0:0.3642	.	389	Q8N0Z9	VSI10_HUMAN	P	389	ENSP00000352172:R389P	ENSP00000352172:R389P	R	-	2	0	VSIG10	116995940	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	1.262000	0.32992	0.743000	0.32719	0.650000	0.86243	CGA		0.577	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2		NM_019086		48	36	0	0	0	0.00361	0	48	36		
CIT	11113	broad.mit.edu	37	12	120195199	120195199	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:120195199C>T	ENST00000261833.7	-	21	2608	c.2556G>A	c.(2554-2556)ctG>ctA	p.L852L	CIT_ENST00000392521.2_Silent_p.L894L|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	852					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTCCAGTTCCAGCAGCCGAT	0.557																																						uc001txi.1		NaN																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(2554-2556)CTG>CTA		citron							259.0	254.0	256.0					12																	120195199		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120195199C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2556G>A	12.37:g.120195199C>T						CIT_uc001txh.1_Silent_p.L386L|CIT_uc001txj.1_Silent_p.L894L	p.L852L	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	21	2609	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	852			Potential.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.2556G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	9.642	1.139275	0.21205	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.54	1.07	0.20283	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5015	0.16831	0.1346:0.4852:0.0:0.3802	.	.	.	.	X	480	.	.	W	-	2	0	CIT	118679582	0.988000	0.35896	1.000000	0.80357	0.981000	0.71138	0.301000	0.19174	0.297000	0.22615	-0.140000	0.14226	TGG		0.557	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4		NM_007174		189	308	0	0	0	0.00361	0	189	308		
HIP1R	9026	broad.mit.edu	37	12	123333067	123333067	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:123333067C>T	ENST00000253083.4	+	3	337	c.212C>T	c.(211-213)gCc>gTc	p.A71V		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	71	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGGTCCTACGCCATTGGGCTG	0.597																																						uc001udj.1		NaN																	0				ovary(1)	1						c.(211-213)GCC>GTC		huntingtin interacting protein-1-related							77.0	65.0	69.0					12																	123333067		2203	4300	6503	SO:0001583	missense	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123333067C>T	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.212C>T	12.37:g.123333067C>T	ENSP00000253083:p.Ala71Val					HIP1R_uc001udg.1_Missense_Mutation_p.A59V|HIP1R_uc001udi.1_Missense_Mutation_p.A71V|HIP1R_uc001udh.2_Missense_Mutation_p.A71V	p.A71V	NM_003959	NP_003950	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	3	271	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		71			ENTH.		A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	c.212C>T	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918625	0.33908	.	.	ENSG00000130787	ENST00000253083	T	0.28069	1.63	4.56	4.56	0.56223	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	N	0.25144	0.715	0.80722	D	1	B;P;D	0.58970	0.173;0.565;0.984	B;B;P	0.56216	0.177;0.23;0.794	T	0.02893	-1.1097	10	0.02654	T	1	-21.5228	17.3404	0.87294	0.0:1.0:0.0:0.0	.	71;71;59	O75146;Q6NXG8;B3KQW8	HIP1R_HUMAN;.;.	V	71	ENSP00000253083:A71V	ENSP00000253083:A71V	A	+	2	0	HIP1R	121899020	1.000000	0.71417	0.999000	0.59377	0.358000	0.29455	5.733000	0.68571	2.063000	0.61619	0.462000	0.41574	GCC		0.597	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1		NM_003959		18	46	0	0	0	0.012319	0	18	46		
SBNO1	55206	broad.mit.edu	37	12	123782653	123782653	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:123782653T>A	ENST00000602398.1	-	31	4038	c.3911A>T	c.(3910-3912)tAt>tTt	p.Y1304F	SBNO1_ENST00000602750.1_Missense_Mutation_p.Y1303F|SBNO1_ENST00000420886.2_Missense_Mutation_p.Y1304F|SBNO1_ENST00000267176.4_Missense_Mutation_p.Y1303F			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1304					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TAATACATAATATGTACGGCA	0.438																																						uc010tap.1		NaN																	0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(3910-3912)TAT>TTT		sno, strawberry notch homolog 1							140.0	123.0	128.0					12																	123782653		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123782653T>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3911A>T	12.37:g.123782653T>A	ENSP00000473665:p.Tyr1304Phe					SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.Y1303F|SBNO1_uc010taq.1_Missense_Mutation_p.Y255F	p.Y1304F	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	30	3911	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1304					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.3911A>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004214	0.74932	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.83075	-1.68;-1.68	6.03	6.03	0.97812	.	0.075252	0.53938	D	0.000041	D	0.89508	0.6735	M	0.64260	1.97	0.58432	D	0.999998	D;D	0.67145	0.993;0.996	D;D	0.73380	0.956;0.98	D	0.88479	0.3067	10	0.38643	T	0.18	-2.4644	16.6126	0.84892	0.0:0.0:0.0:1.0	.	1304;1303	A3KN83;A3KN83-2	SBNO1_HUMAN;.	F	1304;1303	ENSP00000387361:Y1304F;ENSP00000267176:Y1303F	ENSP00000267176:Y1303F	Y	-	2	0	SBNO1	122348606	1.000000	0.71417	0.401000	0.26359	0.985000	0.73830	7.991000	0.88244	2.322000	0.78497	0.529000	0.55759	TAT		0.438	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1		NM_018183		30	56	0	0	0	0.003755	0	30	56		
DNAH10	196385	broad.mit.edu	37	12	124403343	124403343	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:124403343C>T	ENST00000409039.3	+	64	11024	c.10999C>T	c.(10999-11001)Ctg>Ttg	p.L3667L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3667					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAGATGGCCCTGGTGAACTC	0.577																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(10999-11001)CTG>TTG		dynein, axonemal, heavy chain 10							69.0	69.0	69.0					12																	124403343		2033	4174	6207	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124403343C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10999C>T	12.37:g.124403343C>T							p.L3667L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	64	11024	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3667					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.10999C>T	CCDS9255.2																																																																																				0.577	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				7	16	0	0	0	0.006214	0	7	16		
ZNF664	144348	broad.mit.edu	37	12	124497333	124497333	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:124497333G>C	ENST00000539644.1	+	6	2472	c.642G>C	c.(640-642)ctG>ctC	p.L214L	ZNF664_ENST00000337815.4_Silent_p.L214L|ZNF664_ENST00000538932.2_Silent_p.L214L|ZNF664_ENST00000392404.3_Silent_p.L214L|FAM101A_ENST00000545615.1_Intron			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	214					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.L214L(1)		breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GTTCGAGCCTGTGCATCCACC	0.527																																						uc001ufz.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)		0						c.(640-642)CTG>CTC		zinc finger protein 664							102.0	102.0	102.0					12																	124497333		2203	4300	6503	SO:0001819	synonymous_variant	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124497333G>C		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.642G>C	12.37:g.124497333G>C						ZNF664_uc001uga.2_Silent_p.L214L|ZNF664_uc001ugb.2_Silent_p.L214L	p.L214L	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2472	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		214			C2H2-type 8.		B3KP97|Q15914|Q3ZCQ7	Silent	SNP	ENST00000539644.1	37	c.642G>C	CCDS9257.1																																																																																				0.527	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1		NM_152437		3	94	0	0	0	0.001168	0	3	94		
SFSWAP	6433	broad.mit.edu	37	12	132241141	132241141	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:132241141A>T	ENST00000261674.4	+	11	1813	c.1672A>T	c.(1672-1674)Aag>Tag	p.K558*	RP11-495K9.5_ENST00000537032.1_lincRNA|SFSWAP_ENST00000541286.1_Nonsense_Mutation_p.K558*	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	558					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGGCGGGAAGAAGGAGGCATC	0.607																																						uc001uja.1		NaN																	0					0						c.(1672-1674)AAG>TAG		splicing factor, arginine/serine-rich 8							88.0	65.0	73.0					12																	132241141		2203	4300	6503	SO:0001587	stop_gained	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132241141A>T	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1672A>T	12.37:g.132241141A>T	ENSP00000261674:p.Lys558*					SFRS8_uc010tbn.1_Nonsense_Mutation_p.K558*|SFRS8_uc001ujb.1_Nonsense_Mutation_p.K351*	p.K558*	NM_004592	NP_004583	Q12872	SFSWA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	11	1812	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		558					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Nonsense_Mutation	SNP	ENST00000261674.4	37	c.1672A>T	CCDS9273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.36|18.36	3.607508|3.607508	0.66558|0.66558	.|.	.|.	ENSG00000061936|ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000535236;ENST00000541286|ENST00000537164	.|.	.|.	.|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.568752|.	0.20115|.	N|.	0.098932|.	.|T	.|0.52322	.|0.1727	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63550	.|-0.6612	.|3	0.02654|.	T|.	1|.	-26.212|-26.212	9.0701|9.0701	0.36486|0.36486	0.9178:0.0:0.0822:0.0|0.9178:0.0:0.0822:0.0	.|.	.|.	.|.	.|.	X|S	558;495;351;558|197	.|.	ENSP00000261674:K558X|.	K|R	+|+	1|3	0|2	SFSWAP|SFSWAP	130807094|130807094	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.357000|0.357000	0.29423|0.29423	4.314000|4.314000	0.59166|0.59166	2.026000|2.026000	0.59711|0.59711	0.459000|0.459000	0.35465|0.35465	AAG|AGA		0.607	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1		NM_004592		9	14	0	0	0	0.008291	0	9	14		
RNF17	56163	broad.mit.edu	37	13	25362208	25362208	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:25362208G>C	ENST00000255324.5	+	7	746	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	RNF17_ENST00000255325.6_Missense_Mutation_p.E232Q|RNF17_ENST00000381921.1_Missense_Mutation_p.E232Q|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	232					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTACATTGAAGAGAAAAAAAA	0.303																																						uc001upr.2		NaN																	0				ovary(1)|skin(1)	2						c.(694-696)GAG>CAG		ring finger protein 17							53.0	57.0	55.0					13																	25362208		2203	4291	6494	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25362208G>C	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.694G>C	13.37:g.25362208G>C	ENSP00000255324:p.Glu232Gln					RNF17_uc010tdd.1_Missense_Mutation_p.E91Q|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.E232Q|RNF17_uc001ups.2_Missense_Mutation_p.E171Q|RNF17_uc001upq.1_Missense_Mutation_p.E232Q	p.E232Q	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	7	735	+		Lung SC(185;0.0225)|Breast(139;0.077)	232					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.694G>C	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689063	0.29962	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.21191	3.18;3.19;2.02	4.62	4.62	0.57501	.	0.255149	0.29410	N	0.012222	T	0.24198	0.0586	L	0.29908	0.895	0.30697	N	0.750673	B;B;D	0.59357	0.038;0.162;0.985	B;B;P	0.55391	0.016;0.05;0.775	T	0.03077	-1.1075	10	0.25751	T	0.34	.	10.7912	0.46434	0.0:0.192:0.808:0.0	.	232;232;232	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	Q	232;232;91;233;232	ENSP00000255324:E232Q;ENSP00000371346:E232Q;ENSP00000255325:E233Q	ENSP00000255324:E232Q	E	+	1	0	RNF17	24260208	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.875000	0.48491	2.399000	0.81585	0.557000	0.71058	GAG		0.303	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1		NM_031994		19	14	0	0	0	0.007413	0	19	14		
FRY	10129	broad.mit.edu	37	13	32869562	32869562	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:32869562C>G	ENST00000380250.3	+	61	9503	c.9007C>G	c.(9007-9009)Ctt>Gtt	p.L3003V	RP11-37E23.5_ENST00000418076.1_RNA|FRY_ENST00000380217.1_Missense_Mutation_p.L185V|FRY_ENST00000542859.1_Missense_Mutation_p.L373V	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	3003						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CACTACTTTTCTTCCAGACTC	0.567																																						uc001utx.2		NaN																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(9007-9009)CTT>GTT		furry homolog							97.0	98.0	98.0					13																	32869562		1952	4129	6081	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32869562C>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.9007C>G	13.37:g.32869562C>G	ENSP00000369600:p.Leu3003Val					FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Missense_Mutation_p.L534V|FRY_uc010tdx.1_Missense_Mutation_p.L373V	p.L3003V	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	61	9503	+		Lung SC(185;0.0271)	3003					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.9007C>G	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139588	0.56936	.	.	ENSG00000073910	ENST00000380250;ENST00000542859;ENST00000380217	T	0.24350	1.86	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	L	0.57536	1.79	0.80722	D	1	B	0.33612	0.419	B	0.33392	0.163	T	0.03413	-1.1039	10	0.36615	T	0.2	.	19.5525	0.95326	0.0:1.0:0.0:0.0	.	3003	Q5TBA9	FRY_HUMAN	V	3003;373;185	ENSP00000369600:L3003V	ENSP00000369565:L185V	L	+	1	0	FRY	31767562	1.000000	0.71417	0.881000	0.34555	0.532000	0.34746	7.660000	0.83776	2.626000	0.88956	0.650000	0.86243	CTT		0.567	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037		27	25	0	0	0	0.010818	0	27	25		
FREM2	341640	broad.mit.edu	37	13	39265823	39265823	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:39265823G>C	ENST00000280481.7	+	1	4558	c.4342G>C	c.(4342-4344)Gac>Cac	p.D1448H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1448					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAGCACTAGTGACTTGAACAG	0.488																																						uc001uwv.2		NaN																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(4342-4344)GAC>CAC		FRAS1-related extracellular matrix protein 2							142.0	114.0	123.0					13																	39265823		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265823G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4342G>C	13.37:g.39265823G>C	ENSP00000280481:p.Asp1448His						p.D1448H	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4651	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1448			Extracellular (Potential).|CSPG 10.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4342G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.800054	0.70567	.	.	ENSG00000150893	ENST00000280481	T	0.67698	-0.28	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.87430	0.6175	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89791	0.3968	10	0.87932	D	0	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	1448	Q5SZK8	FREM2_HUMAN	H	1448	ENSP00000280481:D1448H	ENSP00000280481:D1448H	D	+	1	0	FREM2	38163823	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.864000	0.99589	2.746000	0.94184	0.655000	0.94253	GAC		0.488	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361		31	30	0	0	0	0.005524	0	31	30		
ZIC2	7546	broad.mit.edu	37	13	100634920	100634920	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:100634920G>C	ENST00000376335.3	+	1	895	c.602G>C	c.(601-603)cGg>cCg	p.R201P		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	201	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCCAGCCCGCGGACCGACCCC	0.672																																					Pancreas(97;119 1522 31925 44771 48764)	uc001von.2		NaN																	0					0						c.(601-603)CGG>CCG		zinc finger protein of the cerebellum 2							14.0	17.0	16.0					13																	100634920		2194	4283	6477	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100634920G>C	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.602G>C	13.37:g.100634920G>C	ENSP00000365514:p.Arg201Pro						p.R201P	NM_007129	NP_009060	O95409	ZIC2_HUMAN			1	602	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		201			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).		Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.602G>C	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462833	0.84425	.	.	ENSG00000043355	ENST00000376335;ENST00000425702	T	0.59638	0.25	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.76779	0.4035	M	0.76938	2.355	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.80699	-0.1266	10	0.87932	D	0	.	17.2443	0.87023	0.0:0.0:1.0:0.0	.	201	O95409	ZIC2_HUMAN	P	201	ENSP00000365514:R201P	ENSP00000365514:R201P	R	+	2	0	ZIC2	99432921	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.598000	0.98277	2.484000	0.83849	0.462000	0.41574	CGG		0.672	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2		NM_007129		7	24	0	0	0	0.001984	0	7	24		
TMTC4	84899	broad.mit.edu	37	13	101315400	101315400	+	Missense_Mutation	SNP	C	C	A	rs377347768		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:101315400C>A	ENST00000376234.3	-	4	502	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	TMTC4_ENST00000342624.5_Missense_Mutation_p.V124L|TMTC4_ENST00000328767.5_Intron	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	105						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAAAGCCCACGGGGTGGAAG	0.562													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19720	0.0		0.0	False		,,,				2504	0.0					uc001vou.2		NaN																	0				ovary(2)|breast(1)	3						c.(313-315)GTG>TTG		transmembrane and tetratricopeptide repeat		C	LEU/VAL,LEU/VAL	1,4197		0,1,2098	65.0	71.0	69.0		313,370	-1.3	0.1	13		69	0,8436		0,0,4218	no	missense,missense	TMTC4	NM_001079669.1,NM_032813.2	32,32	0,1,6316	AA,AC,CC		0.0,0.0238,0.0079	benign,benign	105/742,124/761	101315400	1,12633	2099	4218	6317	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101315400C>A		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.313G>T	13.37:g.101315400C>A	ENSP00000365408:p.Val105Leu					TMTC4_uc001vot.2_Missense_Mutation_p.V124L|TMTC4_uc010tja.1_Intron	p.V105L	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN			4	473	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		105					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.313G>T	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	C	1.952	-0.441062	0.04636	2.38E-4	0.0	ENSG00000125247	ENST00000376234;ENST00000342624	D;D	0.94280	-3.39;-3.39	4.91	-1.26	0.09376	.	0.584194	0.18630	N	0.135614	T	0.80844	0.4701	N	0.20685	0.6	0.33321	D	0.567283	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.65721	-0.6099	10	0.11182	T	0.66	.	1.0571	0.01592	0.2292:0.3821:0.1118:0.2769	.	105;124	Q5T4D3;Q5T4D3-3	TMTC4_HUMAN;.	L	105;124	ENSP00000365408:V105L;ENSP00000343871:V124L	ENSP00000343871:V124L	V	-	1	0	TMTC4	100113401	0.001000	0.12720	0.062000	0.19696	0.312000	0.27988	-0.067000	0.11579	-0.540000	0.06265	-0.997000	0.02515	GTG		0.562	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2		NM_032813		37	50	1	0	4.10826e-27	0.00361	4.75018e-27	37	50		
ACIN1	22985	broad.mit.edu	37	14	23528466	23528466	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:23528466C>T	ENST00000262710.1	-	19	4244	c.3917G>A	c.(3916-3918)aGg>aAg	p.R1306K	ACIN1_ENST00000457657.1_Missense_Mutation_p.R1266K|CDH24_ENST00000487137.2_5'Flank|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1248K|ACIN1_ENST00000397341.3_Missense_Mutation_p.R548K|ACIN1_ENST00000338631.6_Missense_Mutation_p.R579K|ACIN1_ENST00000357481.2_Missense_Mutation_p.R548K|ACIN1_ENST00000557515.1_Missense_Mutation_p.R547K|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1293K	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1306	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTCCCTTTCCCTATCCCGATC	0.652											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wit.3		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(3916-3918)AGG>AAG		apoptotic chromatin condensation inducer 1							140.0	108.0	119.0					14																	23528466		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23528466C>T	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3917G>A	14.37:g.23528466C>T	ENSP00000262710:p.Arg1306Lys		OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_uc001wil.2_5'Flank|CDH24_uc010akf.2_5'Flank|CDH24_uc001win.3_5'Flank|ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R548K|ACIN1_uc001wiq.3_Missense_Mutation_p.R548K|ACIN1_uc001wir.3_Missense_Mutation_p.R579K|ACIN1_uc001wis.3_Missense_Mutation_p.R987K|ACIN1_uc010akg.2_Missense_Mutation_p.R1293K	p.R1306K	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	19	4245	-	all_cancers(95;1.36e-05)		1306			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3917G>A	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563133	0.45694	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25;0.25	4.29	4.29	0.51040	.	0.000000	0.39834	N	0.001247	T	0.47857	0.1468	N	0.14661	0.345	0.34827	D	0.739257	P;P;P;B;B	0.51933	0.949;0.915;0.915;0.137;0.137	P;B;B;B;B	0.50659	0.647;0.444;0.444;0.023;0.023	T	0.51655	-0.8678	10	0.13470	T	0.59	-10.1552	16.0217	0.80503	0.0:1.0:0.0:0.0	.	1293;1306;1266;579;548	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	K	547;579;548;1306;1266;548;1293	ENSP00000451138:R547K;ENSP00000345541:R579K;ENSP00000350073:R548K;ENSP00000262710:R1306K;ENSP00000405677:R1266K;ENSP00000380502:R548K;ENSP00000451328:R1293K	ENSP00000262710:R1306K	R	-	2	0	ACIN1	22598306	0.423000	0.25482	0.839000	0.33178	0.616000	0.37450	2.274000	0.43390	2.379000	0.81126	0.563000	0.77884	AGG		0.652	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3		NM_014977		25	95	0	0	0	0.010818	0	25	95		
RABGGTA	5875	broad.mit.edu	37	14	24738749	24738749	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:24738749G>A	ENST00000399409.3	-	5	1062	c.579C>T	c.(577-579)ccC>ccT	p.P193P	RABGGTA_ENST00000560777.1_5'UTR|RABGGTA_ENST00000216840.6_Silent_p.P193P|RABGGTA_ENST00000559586.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	193					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		AATCCGGCTGGGGGTGCAGCT	0.592																																						uc001wof.2		NaN																	0					0						c.(577-579)CCC>CCT		Rab geranylgeranyltransferase alpha							81.0	89.0	87.0					14																	24738749		1992	4171	6163	SO:0001819	synonymous_variant	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24738749G>A		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.579C>T	14.37:g.24738749G>A						RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Silent_p.P193P|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	p.P193P	NM_004581	NP_004572	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	5	1001	-			193			PFTA 4.		A8K5N2|D3DS69	Silent	SNP	ENST00000399409.3	37	c.579C>T	CCDS45088.1																																																																																				0.592	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5		NM_182836		40	156	0	0	0	0.00361	0	40	156		
ADCY4	196883	broad.mit.edu	37	14	24800296	24800296	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:24800296G>A	ENST00000310677.4	-	7	971	c.858C>T	c.(856-858)gcC>gcT	p.A286A	ADCY4_ENST00000396747.3_Missense_Mutation_p.P22L|ADCY4_ENST00000418030.2_Silent_p.A286A|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000554068.2_Silent_p.A286A	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	286					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AACACTCGCTGGCCAGCCGCG	0.602																																						uc001wov.2		NaN																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(856-858)GCC>GCT		adenylate cyclase 4							80.0	62.0	68.0					14																	24800296		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24800296G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.858C>T	14.37:g.24800296G>A						ADCY4_uc001wow.2_Silent_p.A286A|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Silent_p.A286A|ADCY4_uc001woy.2_Silent_p.A286A	p.A286A	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	6	864	-			286			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.858C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239564	0.58995	.	.	ENSG00000129467	ENST00000396747	D	0.90900	-2.75	4.44	4.44	0.53790	.	.	.	.	.	D	0.93805	0.8019	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.94485	0.7696	6	0.87932	D	0	.	14.9475	0.71044	0.0:0.0:1.0:0.0	.	.	.	.	L	22	ENSP00000379971:P22L	ENSP00000379971:P22L	P	-	2	0	ADCY4	23870136	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.896000	0.56266	2.462000	0.83206	0.561000	0.74099	CCA		0.602	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4				21	29	0	0	0	0.012213	0	21	29		
FOXG1	2290	broad.mit.edu	37	14	29237880	29237880	+	Silent	SNP	G	G	A	rs369183477		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:29237880G>A	ENST00000313071.4	+	1	1594	c.1395G>A	c.(1393-1395)acG>acA	p.T465T	FOXG1_ENST00000382535.3_Silent_p.T465T	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	465					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GTTTTACGACGGGACTGTCTG	0.547																																						uc001wqe.2		NaN																	0				ovary(2)|lung(2)	4						c.(1393-1395)ACG>ACA		forkhead box G1							87.0	86.0	86.0					14																	29237880		2203	4300	6503	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237880G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1395G>A	14.37:g.29237880G>A							p.T465T	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1594	+			465					A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.1395G>A	CCDS9636.1																																																																																				0.547	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3				41	50	0	0	0	0.00361	0	41	50		
SOS2	6655	broad.mit.edu	37	14	50649252	50649252	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:50649252C>T	ENST00000216373.5	-	6	1061	c.787G>A	c.(787-789)Gac>Aac	p.D263N	SOS2_ENST00000555794.1_5'Flank|SOS2_ENST00000543680.1_Missense_Mutation_p.D263N	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	263	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCAACTGTGTCTTCAATCAAA	0.333																																						uc001wxs.3		NaN																	0				ovary(2)	2						c.(787-789)GAC>AAC		son of sevenless homolog 2							84.0	81.0	82.0					14																	50649252		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50649252C>T	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.787G>A	14.37:g.50649252C>T	ENSP00000216373:p.Asp263Asn					SOS2_uc010tql.1_Missense_Mutation_p.D263N|SOS2_uc001wxt.2_5'Flank	p.D263N	NM_006939	NP_008870	Q07890	SOS2_HUMAN			6	885	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		263			DH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.787G>A	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	35	5.514746	0.96402	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.92595	-3.07;-3.07	5.54	5.54	0.83059	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.94673	0.8282	M	0.81341	2.54	0.80722	D	1	P;B	0.44344	0.833;0.439	P;B	0.49085	0.6;0.278	D	0.95119	0.8245	10	0.87932	D	0	.	19.4841	0.95022	0.0:1.0:0.0:0.0	.	263;263	B7ZKT6;Q07890	.;SOS2_HUMAN	N	263	ENSP00000216373:D263N;ENSP00000445328:D263N	ENSP00000216373:D263N	D	-	1	0	SOS2	49719002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.592000	0.87571	0.650000	0.86243	GAC		0.333	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2				11	19	0	0	0	0.001855	0	11	19		
TMEM260	54916	broad.mit.edu	37	14	57083924	57083924	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:57083924T>C	ENST00000261556.6	+	9	1087	c.965T>C	c.(964-966)gTa>gCa	p.V322A	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.V322A|TMEM260_ENST00000553335.1_3'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	322						integral component of membrane (GO:0016021)											CCATCATTAGTATGGCTTTTT	0.284																																						uc001xcm.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(964-966)GTA>GCA		hypothetical protein LOC54916							145.0	135.0	138.0					14																	57083924		2203	4297	6500	SO:0001583	missense	54916					integral to membrane		g.chr14:57083924T>C	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.965T>C	14.37:g.57083924T>C	ENSP00000261556:p.Val322Ala					C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_Intron|C14orf101_uc010trf.1_5'UTR|C14orf101_uc001xco.2_5'UTR	p.V322A	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	9	1087	+			322			Helical; (Potential).		A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.965T>C	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	T	3.267	-0.149974	0.06585	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.45276	1.47;0.9	5.64	5.64	0.86602	.	0.220905	0.39834	N	0.001243	T	0.38295	0.1035	L	0.54323	1.7	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25572	-1.0128	10	0.11485	T	0.65	-7.283	15.8547	0.78968	0.0:0.0:0.0:1.0	.	322	Q9NX78	CN101_HUMAN	A	322	ENSP00000261556:V322A;ENSP00000441934:V322A	ENSP00000261556:V322A	V	+	2	0	C14orf101	56153677	0.921000	0.31238	0.988000	0.46212	0.315000	0.28087	1.592000	0.36676	2.148000	0.66965	0.460000	0.39030	GTA		0.284	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1		NM_017799		9	29	0	0	0	0.001368	0	9	29		
SLC38A6	145389	broad.mit.edu	37	14	61486258	61486258	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:61486258G>C	ENST00000267488.4	+	5	479		c.e5-1		SLC38A6_ENST00000456840.2_Splice_Site|SLC38A6_ENST00000354886.2_Splice_Site	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TTCTTTTACAGTTGGTGGTGG	0.323																																						uc001xfg.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.e5-1		solute carrier family 38, member 6							129.0	126.0	127.0					14																	61486258		2203	4300	6503	SO:0001630	splice_region_variant	145389				amino acid transport|sodium ion transport	integral to membrane		g.chr14:61486258G>C	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.364-1G>C	14.37:g.61486258G>C						SLC38A6_uc001xfh.1_Splice_Site_p.L122_splice|SLC38A6_uc001xfi.2_Splice_Site|SLC38A6_uc001xfj.1_Splice_Site|SLC38A6_uc001xfk.2_Splice_Site|SLC38A6_uc010trz.1_Splice_Site_p.L99_splice	p.L122_splice	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0981)	5	480	+								C9JWA6|Q86SY5	Splice_Site	SNP	ENST00000267488.4	37	c.364_splice	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463140	0.26248	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000526105	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6853	0.91560	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC38A6	60556011	1.000000	0.71417	0.999000	0.59377	0.242000	0.25591	6.161000	0.71868	2.663000	0.90544	0.650000	0.86243	.		0.323	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			Intron	20	86	0	0	0	0.00278	0	20	86		
SGPP1	81537	broad.mit.edu	37	14	64153045	64153045	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:64153045C>A	ENST00000247225.6	-	3	1198	c.1104G>T	c.(1102-1104)cgG>cgT	p.R368R		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	368					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		CTATGAGGATCCGCAATATGG	0.378																																						uc001xgj.2		NaN																	0				central_nervous_system(1)	1						c.(1102-1104)CGG>CGT		sphingosine-1-phosphate phosphatase 1							110.0	105.0	107.0					14																	64153045		2203	4300	6503	SO:0001819	synonymous_variant	81537					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr14:64153045C>A	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1104G>T	14.37:g.64153045C>A							p.R368R	NM_030791	NP_110418	Q9BX95	SGPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)	3	1198	-			368			Helical; (Potential).		B2RAH0|Q9H189	Silent	SNP	ENST00000247225.6	37	c.1104G>T	CCDS9760.1																																																																																				0.378	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3		NM_030791		19	40	1	0	1.64113e-05	0.010504	1.68672e-05	19	40		
MTHFD1	4522	broad.mit.edu	37	14	64898301	64898301	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:64898301C>T	ENST00000545908.1	+	14	1760	c.1531C>T	c.(1531-1533)Ctc>Ttc	p.L511F	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Missense_Mutation_p.L455F			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	455	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	AGCTAATAACCTCGTTGCTGC	0.463																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc001xhb.2		NaN																	0				ovary(2)	2						c.(1363-1365)CTC>TTC		methylenetetrahydrofolate dehydrogenase 1	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						102.0	84.0	90.0					14																	64898301		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding	g.chr14:64898301C>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1531C>T	14.37:g.64898301C>T	ENSP00000438588:p.Leu511Phe					MTHFD1_uc010aqe.2_Missense_Mutation_p.L491F|MTHFD1_uc010aqf.2_Missense_Mutation_p.L511F	p.L455F	NM_005956	NP_005947	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	14	1750	+			455			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.1363C>T		.	.	.	.	.	.	.	.	.	.	C	23.5	4.418329	0.83559	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.63	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	H	0.99516	4.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.994	D	0.84944	0.0867	10	0.87932	D	0	-17.7089	15.4789	0.75508	0.0:0.9305:0.0:0.0695	.	511;455;455	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	F	511;455;511;435	ENSP00000438588:L511F;ENSP00000450560:L455F;ENSP00000216605:L511F;ENSP00000451309:L435F	ENSP00000216605:L455F	L	+	1	0	MTHFD1	63968054	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	3.986000	0.56937	2.826000	0.97356	0.655000	0.94253	CTC		0.463	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1				40	28	0	0	0	0.00361	0	40	28		
TMEM229B	161145	broad.mit.edu	37	14	67940532	67940532	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:67940532A>G	ENST00000557006.1	-	4	391	c.109T>C	c.(109-111)Ttg>Ctg	p.L37L	TMEM229B_ENST00000357461.2_Silent_p.L37L			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	37						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTCCAGTTCAAGTTCACCACG	0.632																																						uc001xjk.2		NaN																	0				central_nervous_system(1)	1						c.(109-111)TTG>CTG		transmembrane protein 229B							54.0	34.0	41.0					14																	67940532		2203	4300	6503	SO:0001819	synonymous_variant	161145					integral to membrane		g.chr14:67940532A>G	AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 83"""	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.109T>C	14.37:g.67940532A>G						TMEM229B_uc001xjj.1_RNA	p.L37L	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN			3	519	-			37			Extracellular (Potential).			Silent	SNP	ENST00000557006.1	37	c.109T>C	CCDS9783.1																																																																																				0.632	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412718.2		NM_182526		10	17	0	0	0	0.003163	0	10	17		
ZFYVE26	23503	broad.mit.edu	37	14	68264756	68264756	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:68264756C>G	ENST00000347230.4	-	11	2361	c.2223G>C	c.(2221-2223)aaG>aaC	p.K741N	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.K741N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	741					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TTGTCACCACCTTGTGTCTCC	0.542																																						uc001xka.2		NaN																	0				ovary(9)|breast(2)	11						c.(2221-2223)AAG>AAC		zinc finger, FYVE domain containing 26							104.0	107.0	106.0					14																	68264756		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68264756C>G	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2223G>C	14.37:g.68264756C>G	ENSP00000251119:p.Lys741Asn					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.K741N|ZFYVE26_uc010tta.1_Missense_Mutation_p.K741N	p.K741N	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	11	2362	-			741					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.2223G>C	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914279	0.52546	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.32023	1.61;1.47	5.95	1.03	0.20045	.	0.100396	0.64402	D	0.000002	T	0.48696	0.1514	M	0.65975	2.015	0.34064	D	0.657686	D;D;D	0.76494	0.999;0.996;0.994	D;D;P	0.68943	0.961;0.918;0.829	T	0.60120	-0.7325	10	0.72032	D	0.01	-24.011	11.7914	0.52072	0.0:0.5619:0.0:0.4381	.	741;741;741	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	N	741;720;741	ENSP00000251119:K741N;ENSP00000450603:K741N	ENSP00000251119:K741N	K	-	3	2	ZFYVE26	67334509	1.000000	0.71417	0.987000	0.45799	0.598000	0.36846	0.838000	0.27572	-0.287000	0.09064	-0.797000	0.03246	AAG		0.542	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2		NM_015346		83	36	0	0	0	0.00361	0	83	36		
AREL1	9870	broad.mit.edu	37	14	75142403	75142403	+	Splice_Site	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:75142403T>A	ENST00000356357.4	-	8	1594	c.1079A>T	c.(1078-1080)aAg>aTg	p.K360M	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	360					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGGTCCAACCTTTGGTGACAC	0.478																																						uc001xqb.2		NaN																	0				ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(1078-1080)AAG>ATG		hypothetical protein LOC9870							344.0	337.0	339.0					14																	75142403		1983	4172	6155	SO:0001630	splice_region_variant	9870				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity	g.chr14:75142403T>A	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1080+1A>T	14.37:g.75142403T>A						KIAA0317_uc010tut.1_Missense_Mutation_p.K199M|KIAA0317_uc001xqc.2_Missense_Mutation_p.K360M	p.K360M	NM_001039479	NP_001034568	O15033	K0317_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00404)	8	1584	-			360					B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.1079A>T	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.584450	0.86748	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.58652	0.32;0.32	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.74321	0.3701	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.76737	-0.2849	10	0.87932	D	0	.	16.3593	0.83251	0.0:0.0:0.0:1.0	.	360;360	O15033-2;O15033	.;K0317_HUMAN	M	360;199;199	ENSP00000348714:K360M;ENSP00000452101:K199M	ENSP00000348714:K360M	K	-	2	0	KIAA0317	74212156	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.805000	0.86005	2.267000	0.75376	0.383000	0.25322	AAG		0.478	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2		NM_014821	Missense_Mutation	356	202	0	0	0	0.00361	0	356	202		
NRDE2	55051	broad.mit.edu	37	14	90767622	90767622	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:90767622G>C	ENST00000354366.3	-	7	1738	c.1506C>G	c.(1504-1506)ttC>ttG	p.F502L	NRDE2_ENST00000357904.3_Missense_Mutation_p.F271L	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	502																	TGTCGGGTTTGAAGAAGGTGA	0.562																																						uc001xyi.1		NaN																	0				ovary(2)|lung(1)	3						c.(1504-1506)TTC>TTG		hypothetical protein LOC55051 isoform 1							117.0	94.0	102.0					14																	90767622		2203	4300	6503	SO:0001583	missense	55051						protein binding	g.chr14:90767622G>C	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1506C>G	14.37:g.90767622G>C	ENSP00000346335:p.Phe502Leu					C14orf102_uc010atp.1_Missense_Mutation_p.F7L|C14orf102_uc001xyj.1_Missense_Mutation_p.F271L	p.F502L	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	7	1537	-		all_cancers(154;0.118)	502					B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.1506C>G	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159829	0.78226	.	.	ENSG00000119720	ENST00000354366;ENST00000357904;ENST00000554464	T;T	0.32272	1.46;1.46	5.5	3.68	0.42216	Tetratricopeptide-like helical (1);Domain of unknown function DUF1740 (1);	0.121832	0.56097	D	0.000034	T	0.46034	0.1372	L	0.58428	1.81	0.44754	D	0.997751	D	0.69078	0.997	D	0.68483	0.958	T	0.29088	-1.0023	10	0.42905	T	0.14	-21.3977	9.1871	0.37176	0.334:0.0:0.666:0.0	.	502	Q9H7Z3	CN102_HUMAN	L	502;271;81	ENSP00000346335:F502L;ENSP00000350579:F271L	ENSP00000346335:F502L	F	-	3	2	C14orf102	89837375	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	3.601000	0.54059	0.809000	0.34255	-0.801000	0.03215	TTC		0.562	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1		NM_017970		42	24	0	0	0	0.00361	0	42	24		
TTC7B	145567	broad.mit.edu	37	14	91077094	91077094	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:91077094G>A	ENST00000328459.6	-	17	2079	c.1958C>T	c.(1957-1959)cCc>cTc	p.P653L	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Missense_Mutation_p.P653L	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	653										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ACCTGTCTCGGGATCGCTGAA	0.498																																						uc001xyp.2		NaN																	0				ovary(2)	2						c.(1957-1959)CCC>CTC		tetratricopeptide repeat domain 7B							160.0	150.0	153.0					14																	91077094		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91077094G>A	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1958C>T	14.37:g.91077094G>A	ENSP00000336127:p.Pro653Leu					TTC7B_uc001xyo.2_Missense_Mutation_p.P80L|TTC7B_uc010ats.2_RNA	p.P653L	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			17	2080	-		Melanoma(154;0.222)	653					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.1958C>T	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164630	0.94727	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972;ENST00000555894;ENST00000540938	T;T;T	0.65178	1.88;1.27;-0.14	5.79	5.79	0.91817	.	0.109611	0.64402	D	0.000005	T	0.74703	0.3751	L	0.44542	1.39	0.80722	D	1	P;D	0.89917	0.799;1.0	B;D	0.87578	0.395;0.998	T	0.71623	-0.4537	10	0.40728	T	0.16	-20.76	20.0341	0.97551	0.0:0.0:1.0:0.0	.	653;653	Q86TV6;Q86TV6-2	TTC7B_HUMAN;.	L	551;653;653;123;62;395	ENSP00000349564:P653L;ENSP00000336127:P653L;ENSP00000451440:P123L	ENSP00000336127:P653L	P	-	2	0	TTC7B	90146847	1.000000	0.71417	0.911000	0.35937	0.989000	0.77384	9.510000	0.98004	2.753000	0.94483	0.555000	0.69702	CCC		0.498	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2				8	106	0	0	0	0.004482	0	8	106		
ASB2	51676	broad.mit.edu	37	14	94404063	94404063	+	Silent	SNP	G	G	C	rs200072486	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:94404063G>C	ENST00000315988.4	-	7	2096	c.1608C>G	c.(1606-1608)gcC>gcG	p.A536A	RP11-131H24.4_ENST00000557646.1_5'Flank|ASB2_ENST00000556337.1_5'Flank|ASB2_ENST00000555019.1_Silent_p.A584A	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	536	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCTTGATGACGGCCCAGTCCT	0.617																																						uc001ycc.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(1606-1608)GCC>GCG		ankyrin repeat and SOCS box-containing protein							114.0	96.0	102.0					14																	94404063		2203	4300	6503	SO:0001819	synonymous_variant	51676				intracellular signal transduction			g.chr14:94404063G>C	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1608C>G	14.37:g.94404063G>C						ASB2_uc001ycb.1_Silent_p.A230A|ASB2_uc001ycd.2_Silent_p.A584A|ASB2_uc001yce.1_Silent_p.A482A	p.A536A	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	7	2097	-		all_cancers(154;0.13)	536			SOCS box.		B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	c.1608C>G	CCDS9915.1																																																																																				0.617	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1				49	28	0	0	0	0.00361	0	49	28		
EML1	2009	broad.mit.edu	37	14	100402395	100402395	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:100402395G>A	ENST00000262233.6	+	18	2078	c.1939G>A	c.(1939-1941)Gac>Aac	p.D647N	EML1_ENST00000334192.4_Missense_Mutation_p.D666N|EML1_ENST00000327921.9_Missense_Mutation_p.D635N	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	647	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGGCTCACATGACAACTGCAT	0.423																																						uc001ygs.2		NaN																	0				large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5						c.(1939-1941)GAC>AAC		echinoderm microtubule associated protein like 1							106.0	103.0	104.0					14																	100402395		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100402395G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1939G>A	14.37:g.100402395G>A	ENSP00000262233:p.Asp647Asn					EML1_uc010tww.1_Missense_Mutation_p.D635N|EML1_uc001ygr.2_Missense_Mutation_p.D666N	p.D647N	NM_004434	NP_004425	O00423	EMAL1_HUMAN			18	2008	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	647			WD 8.		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.1939G>A	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965199	0.92855	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	D;D;D	0.88975	-2.45;-2.45;-2.45	5.2	5.2	0.72013	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.93283	3.4	0.80722	D	1	D;P;D	0.69078	0.995;0.932;0.997	P;P;P	0.61275	0.877;0.702;0.886	D	0.96658	0.9487	10	0.87932	D	0	-36.6633	17.709	0.88316	0.0:0.0:1.0:0.0	.	635;647;666	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	N	635;647;666;666	ENSP00000327384:D635N;ENSP00000262233:D647N;ENSP00000334314:D666N	ENSP00000262233:D647N	D	+	1	0	EML1	99472148	1.000000	0.71417	0.989000	0.46669	0.550000	0.35303	9.675000	0.98638	2.429000	0.82318	0.561000	0.74099	GAC		0.423	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1		NM_001008707		15	51	0	0	0	0.012319	0	15	51		
WDR20	91833	broad.mit.edu	37	14	102675273	102675273	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:102675273G>A	ENST00000342702.3	+	3	797	c.766G>A	c.(766-768)Ggt>Agt	p.G256S	WDR20_ENST00000322340.5_Intron|WDR20_ENST00000545563.1_Missense_Mutation_p.G83S|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000556807.1_Missense_Mutation_p.G195S|WDR20_ENST00000424963.2_Missense_Mutation_p.G132S|WDR20_ENST00000454394.2_Missense_Mutation_p.G287S|WDR20_ENST00000556511.2_Missense_Mutation_p.G195S|WDR20_ENST00000335263.5_Missense_Mutation_p.G256S|WDR20_ENST00000299135.6_3'UTR	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	256										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GGAGCTGCACGGTACGATGAA	0.557																																						uc001ykz.2		NaN																	0					0						c.(766-768)GGT>AGT		WD repeat domain 20 isoform 2							78.0	66.0	70.0					14																	102675273		2203	4300	6503	SO:0001583	missense	91833							g.chr14:102675273G>A	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.766G>A	14.37:g.102675273G>A	ENSP00000341037:p.Gly256Ser					WDR20_uc001yky.1_5'UTR|WDR20_uc001yla.2_Missense_Mutation_p.G132S|WDR20_uc001ylb.2_Missense_Mutation_p.G195S|WDR20_uc010txu.1_Missense_Mutation_p.G287S|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Missense_Mutation_p.G256S|WDR20_uc001yle.2_Missense_Mutation_p.G195S|WDR20_uc001ylf.2_Missense_Mutation_p.G268S	p.G256S	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN			3	815	+			256			WD 2.		B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	ENST00000342702.3	37	c.766G>A	CCDS9969.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.384759|4.384759	0.82792|0.82792	.|.	.|.	ENSG00000140153|ENSG00000140153	ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000454394;ENST00000401892;ENST00000545563|ENST00000556511	T;T;T;T;T;T|.	0.50001|.	0.76;2.35;0.76;2.35;0.76;0.76|.	5.83|5.83	5.83|5.83	0.93111|0.93111	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59959|0.59959	0.2232|0.2232	L|L	0.31371|0.31371	0.925|0.925	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.979;1.0;0.996;0.987;0.987;1.0;0.979|.	P;D;P;P;P;D;P|.	0.80764|.	0.501;0.968;0.827;0.591;0.697;0.994;0.501|.	T|T	0.51919|0.51919	-0.8644|-0.8644	10|5	0.29301|.	T|.	0.29|.	.|.	20.1184|20.1184	0.97949|0.97949	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	287;268;195;256;195;132;256|.	E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3|.	.;.;.;.;.;.;WDR20_HUMAN|.	S|Q	256;195;132;256;195;287;186;83|186	ENSP00000335434:G256S;ENSP00000395793:G132S;ENSP00000341037:G256S;ENSP00000450636:G195S;ENSP00000406084:G287S;ENSP00000437927:G83S|.	ENSP00000299135:G195S|.	G|R	+|+	1|2	0|0	WDR20|WDR20	101745026|101745026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.557	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1		NM_181291		24	1	0	0	0	0.00632	0	24	1		
RCOR1	23186	broad.mit.edu	37	14	103188691	103188691	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:103188691A>T	ENST00000570597.1	+	11	1348	c.1348A>T	c.(1348-1350)Agt>Tgt	p.S450C	RCOR1_ENST00000262241.6_Missense_Mutation_p.S453C			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	450					blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CAATGGGCCCAGTAACCAGAA	0.418																																						uc001ymb.2		NaN																	0				ovary(1)	1						c.(1348-1350)AGT>TGT		REST corepressor 1							118.0	128.0	124.0					14																	103188691		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103188691A>T	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.1348A>T	14.37:g.103188691A>T	ENSP00000459789:p.Ser450Cys						p.S450C	NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN			11	1348	+			450					Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.1348A>T		.	.	.	.	.	.	.	.	.	.	A	12.83	2.054595	0.36277	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.74	4.56	0.56223	.	0.445572	0.28257	N	0.016019	T	0.26231	0.0640	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.16482	-1.0401	9	0.49607	T	0.09	-3.5601	7.168	0.25702	0.8005:0.0:0.0696:0.1299	.	450	Q9UKL0	RCOR1_HUMAN	C	450	.	ENSP00000262241:S450C	S	+	1	0	RCOR1	102258444	0.773000	0.28580	0.797000	0.32132	0.950000	0.60333	1.681000	0.37618	0.955000	0.37878	0.533000	0.62120	AGT		0.418	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_015156		53	44	0	0	0	0.00361	0	53	44		
AHNAK2	113146	broad.mit.edu	37	14	105410488	105410488	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:105410488G>A	ENST00000333244.5	-	7	11419	c.11300C>T	c.(11299-11301)cCc>cTc	p.P3767L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3767						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCCACGCTGGGCAGAGACAC	0.617																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(11299-11301)CCC>CTC		AHNAK nucleoprotein 2							152.0	159.0	157.0					14																	105410488		1962	4144	6106	SO:0001583	missense	113146					nucleus		g.chr14:105410488G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11300C>T	14.37:g.105410488G>A	ENSP00000353114:p.Pro3767Leu					AHNAK2_uc001ypx.2_Missense_Mutation_p.P3667L	p.P3767L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11420	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3767					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11300C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	13.26	2.183254	0.38511	.	.	ENSG00000185567	ENST00000333244	T	0.05717	3.4	4.12	4.12	0.48240	.	0.799706	0.09723	U	0.764217	T	0.21550	0.0519	M	0.92880	3.355	0.35896	D	0.830026	P	0.50943	0.94	P	0.49421	0.61	T	0.24621	-1.0155	10	0.41790	T	0.15	.	9.3051	0.37870	0.115:0.0:0.885:0.0	.	3767	Q8IVF2	AHNK2_HUMAN	L	3767	ENSP00000353114:P3767L	ENSP00000353114:P3767L	P	-	2	0	AHNAK2	104481533	0.934000	0.31675	0.186000	0.23195	0.055000	0.15305	2.116000	0.41930	1.854000	0.53819	0.485000	0.47835	CCC		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		82	97	0	0	0	0.00361	0	82	97		
NUTM1	256646	broad.mit.edu	37	15	34640693	34640693	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:34640693A>G	ENST00000333756.4	+	2	695	c.540A>G	c.(538-540)ccA>ccG	p.P180P	NUTM1_ENST00000438749.3_Silent_p.P198P|NUTM1_ENST00000537011.1_Silent_p.P208P	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	180	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAGCTTGGCCAGGGCCACATG	0.582																																						uc001zif.2		NaN								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(538-540)CCA>CCG		nuclear protein in testis							33.0	32.0	32.0					15																	34640693		2201	4298	6499	SO:0001819	synonymous_variant	256646					cytoplasm|nucleus		g.chr15:34640693A>G	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.540A>G	15.37:g.34640693A>G						C15orf55_uc010ucc.1_Silent_p.P208P|C15orf55_uc010ucd.1_Silent_p.P198P	p.P180P	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	2	695	+		all_lung(180;2.78e-08)	180			Pro-rich.		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.540A>G	CCDS32190.1																																																																																				0.582	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1		NM_175741		10	7	0	0	0	0.003163	0	10	7		
GJD2	57369	broad.mit.edu	37	15	35045148	35045148	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:35045148G>A	ENST00000290374.4	-	2	973	c.497C>T	c.(496-498)cCa>cTa	p.P166L	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	166					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TAAACAATCTGGCTCTGTCTC	0.507																																						uc001zis.1		NaN																	0					0						c.(496-498)CCA>CTA		gap junction protein, delta 2, 36kDa							191.0	196.0	195.0					15																	35045148		2201	4298	6499	SO:0001583	missense	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045148G>A	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.497C>T	15.37:g.35045148G>A	ENSP00000290374:p.Pro166Leu					uc001zit.1_5'Flank	p.P166L	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	497	-		all_lung(180;9.67e-07)	166			Cytoplasmic (Potential).		Q2M241|Q9P2R0	Missense_Mutation	SNP	ENST00000290374.4	37	c.497C>T	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968529	0.53614	.	.	ENSG00000159248	ENST00000290374	D	0.98090	-4.71	5.54	5.54	0.83059	.	0.000000	0.56097	D	0.000038	D	0.93969	0.8069	L	0.32530	0.975	0.80722	D	1	P	0.38922	0.651	B	0.25140	0.058	D	0.92986	0.6410	10	0.18276	T	0.48	.	19.6787	0.95950	0.0:0.0:1.0:0.0	.	166	Q9UKL4	CXD2_HUMAN	L	166	ENSP00000290374:P166L	ENSP00000290374:P166L	P	-	2	0	GJD2	32832440	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.890000	0.99128	0.650000	0.86243	CCA		0.507	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2				61	122	0	0	0	0.00361	0	61	122		
TP53BP1	7158	broad.mit.edu	37	15	43712625	43712625	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:43712625T>G	ENST00000263801.3	-	21	4796	c.4544A>C	c.(4543-4545)tAt>tCt	p.Y1515S	TP53BP1_ENST00000382044.4_Missense_Mutation_p.Y1520S|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Y1520S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Y1470S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1515	Interaction with dimethylated histone H4.|Tudor-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|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)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GAGCAATTTATACTTCCCAGC	0.488								Other conserved DNA damage response genes																														uc001zrs.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(4543-4545)TAT>TCT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							245.0	236.0	239.0					15																	43712625		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43712625T>G	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4544A>C	15.37:g.43712625T>G	ENSP00000263801:p.Tyr1515Ser					TP53BP1_uc010udp.1_Missense_Mutation_p.Y1515S|TP53BP1_uc001zrq.3_Missense_Mutation_p.Y1520S|TP53BP1_uc001zrr.3_Missense_Mutation_p.Y1520S|TP53BP1_uc010udq.1_Missense_Mutation_p.Y1520S	p.Y1515S	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	21	4692	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1515			Interaction with dimethylated histone H4.		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.4544A>C	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.240936	0.58995	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.55	5.55	0.83447	Tumour suppressor p53-binding protein-1 Tudor (1);	0.065369	0.64402	D	0.000005	T	0.59307	0.2184	N	0.19112	0.55	0.47009	D	0.999289	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	T	0.62210	-0.6902	10	0.46703	T	0.11	-11.4616	15.9906	0.80202	0.0:0.0:0.0:1.0	.	1520;1515;1520;1520	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	S	1515;1520;1470;1520	ENSP00000263801:Y1515S;ENSP00000371475:Y1520S;ENSP00000371470:Y1470S;ENSP00000393497:Y1520S	ENSP00000263801:Y1515S	Y	-	2	0	TP53BP1	41499917	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.926000	0.63433	2.238000	0.73509	0.477000	0.44152	TAT		0.488	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3				19	289	0	0	0	0.004656	0	19	289		
SPATA5L1	79029	broad.mit.edu	37	15	45713304	45713304	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:45713304C>T	ENST00000305560.6	+	8	2257	c.2158C>T	c.(2158-2160)Cta>Tta	p.L720L	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	720						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		AGAGCACTTTCTAAAATCACT	0.358																																						uc001zve.2		NaN																	0				ovary(3)|skin(1)	4						c.(2158-2160)CTA>TTA		spermatogenesis associated 5-like 1							72.0	74.0	73.0					15																	45713304		2198	4298	6496	SO:0001819	synonymous_variant	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45713304C>T	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.2158C>T	15.37:g.45713304C>T						SPATA5L1_uc001zvf.2_RNA	p.L720L	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	8	2267	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	720					C9JHR5|Q9H8W7|Q9HA41	Silent	SNP	ENST00000305560.6	37	c.2158C>T	CCDS10123.1																																																																																				0.358	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1		NM_024063		5	9	0	0	0	0.000602	0	5	9		
UNC13C	440279	broad.mit.edu	37	15	54306784	54306784	+	Missense_Mutation	SNP	G	G	C	rs142320070		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:54306784G>C	ENST00000260323.11	+	1	1684	c.1684G>C	c.(1684-1686)Gaa>Caa	p.E562Q	UNC13C_ENST00000537900.1_Missense_Mutation_p.E562Q|UNC13C_ENST00000545554.1_Missense_Mutation_p.E562Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	562					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCTTACTCAGAAGATTTTTC	0.423																																						uc002ack.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(1684-1686)GAA>CAA		unc-13 homolog C							47.0	46.0	47.0					15																	54306784		1829	4094	5923	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306784G>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1684G>C	15.37:g.54306784G>C	ENSP00000260323:p.Glu562Gln						p.E562Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1684	+			562					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.1684G>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539219	0.65085	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.84442	-1.85;-1.85;-1.85	5.17	5.17	0.71159	.	.	.	.	.	D	0.87803	0.6269	L	0.27053	0.805	0.50813	D	0.999897	D	0.69078	0.997	D	0.75484	0.986	D	0.87937	0.2714	9	0.46703	T	0.11	.	17.8213	0.88651	0.0:0.0:1.0:0.0	.	562	Q8NB66	UN13C_HUMAN	Q	562	ENSP00000260323:E562Q;ENSP00000438156:E562Q;ENSP00000442569:E562Q	ENSP00000260323:E562Q	E	+	1	0	UNC13C	52094076	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	9.259000	0.95561	2.684000	0.91462	0.655000	0.94253	GAA		0.423	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3		NM_173166		12	4	0	0	0	0.003163	0	12	4		
PIGB	9488	broad.mit.edu	37	15	55647054	55647054	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:55647054A>G	ENST00000164305.5	+	11	1687	c.1396A>G	c.(1396-1398)Aaa>Gaa	p.K466E	DYX1C1-CCPG1_ENST00000565113.1_RNA|PIGB_ENST00000539642.1_Missense_Mutation_p.K271E	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	466					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|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)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CCTGACTGGAAAAAGTCATTA	0.378																																						uc002act.2		NaN																	0					0						c.(1396-1398)AAA>GAA		phosphatidylinositol glycan, class B							73.0	66.0	68.0					15																	55647054		1875	4108	5983	SO:0001583	missense	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55647054A>G	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1396A>G	15.37:g.55647054A>G	ENSP00000164305:p.Lys466Glu					PIGB_uc010ugg.1_Missense_Mutation_p.K271E	p.K466E	NM_004855	NP_004846	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	11	1712	+			466					Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	37	c.1396A>G		.	.	.	.	.	.	.	.	.	.	A	3.953	-0.011905	0.07727	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	T;T	0.59638	0.57;0.25	5.87	2.16	0.27623	.	0.560710	0.21369	N	0.075667	T	0.46367	0.1389	M	0.71206	2.165	0.58432	D	0.999999	B	0.09022	0.002	B	0.06405	0.002	T	0.36553	-0.9743	10	0.02654	T	1	-5.4405	6.5859	0.22620	0.6257:0.2987:0.0756:0.0	.	466	Q92521	PIGB_HUMAN	E	466;271	ENSP00000164305:K466E;ENSP00000438963:K271E	ENSP00000164305:K466E	K	+	1	0	PIGB	53434346	1.000000	0.71417	0.524000	0.27887	0.498000	0.33706	2.190000	0.42630	0.110000	0.17919	0.482000	0.46254	AAA		0.378	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1		NM_004855		10	5	0	0	0	0.004007	0	10	5		
PAQR5	54852	broad.mit.edu	37	15	69677081	69677081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:69677081G>A	ENST00000340965.3	+	5	913	c.245G>A	c.(244-246)tGg>tAg	p.W82*	PAQR5_ENST00000561027.1_3'UTR|PAQR5_ENST00000395407.2_Nonsense_Mutation_p.W82*|PAQR5_ENST00000561153.1_Nonsense_Mutation_p.W82*	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	82					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						AGCTACTCCTGGCCCATGCTT	0.527																																						uc002arz.2		NaN																	0				ovary(2)	2						c.(244-246)TGG>TAG		progestin and adipoQ receptor family member V							310.0	213.0	246.0					15																	69677081		2200	4298	6498	SO:0001587	stop_gained	54852				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding	g.chr15:69677081G>A		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.245G>A	15.37:g.69677081G>A	ENSP00000343877:p.Trp82*					PAQR5_uc002asa.2_Nonsense_Mutation_p.W82*	p.W82*	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN			5	623	+			82			Helical; Name=2; (Potential).		Q8IXU2	Nonsense_Mutation	SNP	ENST00000340965.3	37	c.245G>A	CCDS10232.1	.	.	.	.	.	.	.	.	.	.	G	43	9.838204	0.99276	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9487	16.0746	0.80960	0.0:0.0:1.0:0.0	.	.	.	.	X	82	.	ENSP00000343877:W82X	W	+	2	0	PAQR5	67464135	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.217000	0.95160	2.397000	0.81536	0.561000	0.74099	TGG		0.527	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1		NM_017705		53	139	0	0	0	0.00361	0	53	139		
TLE3	7090	broad.mit.edu	37	15	70389121	70389121	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:70389121C>G	ENST00000558939.1	-	1	1394	c.17G>C	c.(16-18)aGa>aCa	p.R6T	TLE3_ENST00000560589.1_5'Flank|TLE3_ENST00000559048.1_5'Flank|TLE3_ENST00000558201.1_5'Flank|TLE3_ENST00000560939.1_5'Flank|TLE3_ENST00000317509.8_Missense_Mutation_p.R6T|TLE3_ENST00000557907.1_Missense_Mutation_p.R6T|TLE3_ENST00000557997.1_Missense_Mutation_p.R6T|TLE3_ENST00000539550.1_5'Flank|TLE3_ENST00000440567.3_5'Flank|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000442299.2_Missense_Mutation_p.R6T|TLE3_ENST00000558379.1_Missense_Mutation_p.R6T|TLE3_ENST00000559574.1_5'Flank|TLE3_ENST00000559929.1_Missense_Mutation_p.R6T|TLE3_ENST00000451782.2_Missense_Mutation_p.R6T	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	6	Gln-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACCGGATGTCTGCCCTGCGG	0.592																																						uc002asm.2		NaN																	0				lung(2)	2						c.(16-18)AGA>ACA		transducin-like enhancer protein 3 isoform a							66.0	67.0	67.0					15																	70389121		1953	4142	6095	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding	g.chr15:70389121C>G	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.17G>C	15.37:g.70389121C>G	ENSP00000452871:p.Arg6Thr					TLE3_uc002ask.2_5'Flank|TLE3_uc002asl.2_5'Flank|TLE3_uc010ukd.1_5'Flank|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Missense_Mutation_p.R6T|TLE3_uc002asn.2_Missense_Mutation_p.R6T|TLE3_uc002asp.2_Missense_Mutation_p.R6T|TLE3_uc002aso.2_Missense_Mutation_p.R6T	p.R6T	NM_005078	NP_005069	Q04726	TLE3_HUMAN			1	1136	-			6			Gln-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.17G>C	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865797	0.51588	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509	T;T;T	0.58652	0.32;0.36;0.42	4.05	4.05	0.47172	Groucho/TLE, N-terminal Q-rich domain (1);	0.083124	0.48767	D	0.000178	T	0.61763	0.2373	M	0.81341	2.54	0.48452	D	0.999658	B;B;B;B;B	0.18013	0.002;0.004;0.012;0.009;0.025	B;B;B;B;B	0.26770	0.022;0.012;0.073;0.031;0.068	T	0.66858	-0.5817	10	0.72032	D	0.01	.	13.76	0.62959	0.0:1.0:0.0:0.0	.	6;6;6;6;6	E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726	.;.;.;.;TLE3_HUMAN	T	6	ENSP00000390007:R6T;ENSP00000394717:R6T;ENSP00000319233:R6T	ENSP00000319233:R6T	R	-	2	0	TLE3	68176175	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.309000	0.72825	2.091000	0.63221	0.462000	0.41574	AGA		0.592	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1		NM_005078		9	29	0	0	0	0.001855	0	9	29		
CYP1A1	1543	broad.mit.edu	37	15	75013618	75013618	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:75013618G>T	ENST00000379727.3	-	5	1286	c.1088C>A	c.(1087-1089)tCc>tAc	p.S363Y	CYP1A1_ENST00000395049.4_Missense_Mutation_p.S363Y|CYP1A1_ENST00000567032.1_Missense_Mutation_p.S363Y|CYP1A1_ENST00000395048.2_Missense_Mutation_p.S363Y|CYP1A1_ENST00000564596.1_Missense_Mutation_p.S102Y			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	363					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	GGGCAGATGGGATCTGTCAGA	0.607									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													uc002ayp.3		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1087-1089)TCC>TAC		cytochrome P450, family 1, subfamily A,	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						85.0	86.0	85.0					15																	75013618		2197	4296	6493	SO:0001583	missense	1543	Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75013618G>T	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.1088C>A	15.37:g.75013618G>T	ENSP00000369050:p.Ser363Tyr					CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.S99Y|CYP1A1_uc010bjx.2_Missense_Mutation_p.S99Y|CYP1A1_uc002ayq.3_Missense_Mutation_p.S363Y|CYP1A1_uc010bjy.2_Missense_Mutation_p.S363Y|CYP1A1_uc010bjz.1_Missense_Mutation_p.S99Y	p.S363Y	NM_000499	NP_000490	P04798	CP1A1_HUMAN			5	1210	-			363					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.1088C>A	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	G	9.634	1.137163	0.21123	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.69685	-0.42;-0.42;-0.42	5.17	-1.21	0.09524	.	1.047830	0.07431	N	0.895768	T	0.70894	0.3276	M	0.69823	2.125	0.09310	N	1	P;P	0.36660	0.564;0.564	P;P	0.50162	0.633;0.633	T	0.63143	-0.6703	10	0.72032	D	0.01	.	2.0707	0.03613	0.333:0.216:0.3498:0.1013	.	363;363	E7EMT5;P04798	.;CP1A1_HUMAN	Y	363;363;363;335	ENSP00000369050:S363Y;ENSP00000378488:S363Y;ENSP00000378489:S363Y	ENSP00000268062:S335Y	S	-	2	0	CYP1A1	72800671	0.000000	0.05858	0.035000	0.18076	0.012000	0.07955	-0.979000	0.03774	-0.551000	0.06175	-0.140000	0.14226	TCC		0.607	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1		NM_000499		19	43	1	0	2.70639e-06	0.002299	2.8032e-06	19	43		
KIAA1024	23251	broad.mit.edu	37	15	79748439	79748439	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:79748439G>A	ENST00000305428.3	+	2	25		c.e2-1			NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024							integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGCCACCACAGAACTGACCTG	0.403																																						uc002bew.1		NaN																	0				pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.e2-1		hypothetical protein LOC23251							28.0	28.0	28.0					15																	79748439		2195	4293	6488	SO:0001630	splice_region_variant	23251					integral to membrane		g.chr15:79748439G>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.-50-1G>A	15.37:g.79748439G>A						KIAA1024_uc010unk.1_5'Flank		NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	26	+								A7MD43	Splice_Site	SNP	ENST00000305428.3	37	c.-49_splice	CCDS32306.1																																																																																				0.403	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1		NM_015206	Intron	8	6	0	0	0	0.008291	0	8	6		
ADAMTSL3	57188	broad.mit.edu	37	15	84706492	84706492	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:84706492A>T	ENST00000286744.5	+	30	5234	c.5010A>T	c.(5008-5010)aaA>aaT	p.K1670N	ADAMTSL3_ENST00000567476.1_Intron	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1670	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTTTGTAAAACATCTTAATT	0.373																																						uc002bjz.3		NaN																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(5008-5010)AAA>AAT		ADAMTS-like 3 precursor							123.0	116.0	118.0					15																	84706492		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84706492A>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.5010A>T	15.37:g.84706492A>T	ENSP00000286744:p.Lys1670Asn					ADAMTSL3_uc010bmu.1_Intron	p.K1670N	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		30	5234	+			1670			PLAC.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.5010A>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.410650	0.62399	.	.	ENSG00000156218	ENST00000286744	T	0.50277	0.75	5.06	2.1	0.27182	PLAC (2);	0.833465	0.10208	N	0.702432	T	0.61627	0.2362	M	0.67953	2.075	0.80722	D	1	D	0.69078	0.997	D	0.65323	0.934	T	0.61108	-0.7129	10	0.72032	D	0.01	.	7.8128	0.29241	0.3329:0.0:0.6671:0.0	.	1670	P82987	ATL3_HUMAN	N	1670	ENSP00000286744:K1670N	ENSP00000286744:K1670N	K	+	3	2	ADAMTSL3	82497496	1.000000	0.71417	0.986000	0.45419	0.684000	0.39900	1.253000	0.32886	1.097000	0.41459	-0.462000	0.05337	AAA		0.373	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2		NM_207517		30	38	0	0	0	0.00623	0	30	38		
TXNDC11	51061	broad.mit.edu	37	16	11794368	11794368	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:11794368T>A	ENST00000356957.3	-	7	1034	c.927A>T	c.(925-927)aaA>aaT	p.K309N	TXNDC11_ENST00000283033.5_Missense_Mutation_p.K282N			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	309					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGGATACCAGTTTCGCAAGAT	0.348																																						uc010buu.1		NaN																	0					0						c.(925-927)AAA>AAT		thioredoxin domain containing 11							165.0	156.0	159.0					16																	11794368		2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11794368T>A	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.927A>T	16.37:g.11794368T>A	ENSP00000349439:p.Lys309Asn					TXNDC11_uc002dbg.1_Missense_Mutation_p.K282N	p.K309N	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN			7	989	-			309					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.927A>T		.	.	.	.	.	.	.	.	.	.	T	14.31	2.497559	0.44455	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.31247	1.5;1.5	5.61	3.38	0.38709	.	0.205166	0.51477	D	0.000100	T	0.33556	0.0867	L	0.59436	1.845	0.30768	N	0.743341	B;P	0.43352	0.19;0.804	B;P	0.47376	0.092;0.545	T	0.27226	-1.0080	10	0.35671	T	0.21	-27.7151	7.096	0.25309	0.0:0.2438:0.0:0.7562	.	309;282	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	N	309;282	ENSP00000349439:K309N;ENSP00000283033:K282N	ENSP00000283033:K282N	K	-	3	2	TXNDC11	11701869	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.783000	0.26802	0.977000	0.38444	0.533000	0.62120	AAA		0.348	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1		NM_015914		45	26	0	0	0	0.00361	0	45	26		
PDILT	204474	broad.mit.edu	37	16	20380853	20380853	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:20380853G>A	ENST00000302451.4	-	8	1325	c.1077C>T	c.(1075-1077)ctC>ctT	p.L359L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	359					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.L359L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CAAATTTCTTGAGGCTTTCGT	0.443																																						uc002dhc.1		NaN																	1	Substitution - coding silent(1)		kidney(1)	large_intestine(1)	1						c.(1075-1077)CTC>CTT		protein disulfide isomerase-like, testis							171.0	171.0	171.0					16																	20380853		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20380853G>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1077C>T	16.37:g.20380853G>A							p.L359L	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			8	1300	-			359					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.1077C>T	CCDS10584.1																																																																																				0.443	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1		NM_174924		52	31	0	0	0	0.00361	0	52	31		
SULT1A1	6817	broad.mit.edu	37	16	28617545	28617545	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:28617545C>G	ENST00000395607.1	-	7	880	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	SULT1A1_ENST00000314752.7_Missense_Mutation_p.E203Q|SULT1A1_ENST00000395609.1_Missense_Mutation_p.E203Q|SULT1A1_ENST00000350842.4_Missense_Mutation_p.E125Q|SULT1A1_ENST00000569554.1_Missense_Mutation_p.E203Q	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	203					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	TTTTGAATCTCCCTTTTCGGG	0.542																																						uc002dqi.2		NaN																	0					0						c.(607-609)GAG>CAG		sulfotransferase family, cytosolic, 1A,							80.0	58.0	65.0					16																	28617545		2197	4300	6497	SO:0001583	missense	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28617545C>G	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.607G>C	16.37:g.28617545C>G	ENSP00000378971:p.Glu203Gln					uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.E203Q|SULT1A1_uc002dqk.2_Missense_Mutation_p.E203Q|SULT1A1_uc002dql.2_Missense_Mutation_p.E203Q|SULT1A1_uc002dqm.2_Missense_Mutation_p.E125Q|SULT1A1_uc002dqn.2_Missense_Mutation_p.E294Q|SULT1A1_uc002dqo.2_Missense_Mutation_p.E203Q|SULT1A1_uc002dqp.2_Missense_Mutation_p.E203Q	p.E203Q	NM_177534	NP_803878	P50225	ST1A1_HUMAN			6	1080	-			203			PAPS.		Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395607.1	37	c.607G>C	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	c	15.01	2.706100	0.48412	.	.	ENSG00000196502	ENST00000314752;ENST00000350842;ENST00000395609;ENST00000395607	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	2.18	2.18	0.27775	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000002	D	0.87180	0.6113	L	0.57536	1.79	0.37541	D	0.918327	D;D;P	0.89917	1.0;0.997;0.666	D;P;B	0.72625	0.978;0.878;0.441	D	0.88876	0.3336	10	0.87932	D	0	.	10.4847	0.44715	0.0:1.0:0.0:0.0	.	155;125;203	Q59GG0;P50225-2;P50225	.;.;ST1A1_HUMAN	Q	203;125;203;203	ENSP00000321988:E203Q;ENSP00000329399:E125Q;ENSP00000378972:E203Q;ENSP00000378971:E203Q	ENSP00000321988:E203Q	E	-	1	0	SULT1A1	28525046	1.000000	0.71417	0.999000	0.59377	0.103000	0.19146	4.841000	0.62824	1.559000	0.49555	0.306000	0.20318	GAG		0.542	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2		NM_001055		9	2	0	0	0	0.001368	0	9	2		
ATP2A1	487	broad.mit.edu	37	16	28911941	28911941	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:28911941C>A	ENST00000357084.3	+	15	2071	c.1804C>A	c.(1804-1806)Cct>Act	p.P602T	ATP2A1_ENST00000395503.4_Missense_Mutation_p.P602T|ATP2A1_ENST00000536376.1_Missense_Mutation_p.P477T	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	602					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CATGCTGGACCCTCCGCGCAA	0.612																																						uc002dro.1		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1804-1806)CCT>ACT		ATPase, Ca++ transporting, fast twitch 1 isoform							82.0	70.0	74.0					16																	28911941		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28911941C>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1804C>A	16.37:g.28911941C>A	ENSP00000349595:p.Pro602Thr					uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.P602T|ATP2A1_uc002drp.1_Missense_Mutation_p.P477T	p.P602T	NM_173201	NP_775293	O14983	AT2A1_HUMAN			15	1988	+			602			Cytoplasmic (By similarity).		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.1804C>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761195	0.89932	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.96427	-4.01;-4.01;-4.01	5.31	5.31	0.75309	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.050293	0.85682	D	0.000000	D	0.98801	0.9596	H	0.96208	3.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99709	1.1006	10	0.87932	D	0	.	17.7855	0.88536	0.0:1.0:0.0:0.0	.	477;602;602	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	T	602;602;639;477	ENSP00000349595:P602T;ENSP00000378879:P602T;ENSP00000443101:P477T	ENSP00000349595:P602T	P	+	1	0	ATP2A1	28819442	1.000000	0.71417	0.993000	0.49108	0.764000	0.43329	7.752000	0.85141	2.493000	0.84123	0.485000	0.47835	CCT		0.612	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2		NM_004320		69	46	1	0	2.78669e-64	0.00361	3.31417e-64	69	46		
ATP2A1	487	broad.mit.edu	37	16	28911981	28911981	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:28911981G>A	ENST00000357084.3	+	15	2111	c.1844G>A	c.(1843-1845)cGt>cAt	p.R615H	ATP2A1_ENST00000395503.4_Missense_Mutation_p.R615H|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R490H	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	615					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CAGCTGTGCCGTGACGCCGGG	0.612																																						uc002dro.1		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1843-1845)CGT>CAT		ATPase, Ca++ transporting, fast twitch 1 isoform							87.0	72.0	77.0					16																	28911981		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28911981G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1844G>A	16.37:g.28911981G>A	ENSP00000349595:p.Arg615His					uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.R615H|ATP2A1_uc002drp.1_Missense_Mutation_p.R490H	p.R615H	NM_173201	NP_775293	O14983	AT2A1_HUMAN			15	2028	+			615			Cytoplasmic (By similarity).		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.1844G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340624	0.60963	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.96334	-3.98;-3.98;-3.98	5.31	4.33	0.51752	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.150098	0.64402	D	0.000019	D	0.93966	0.8068	L	0.46670	1.46	0.53005	D	0.999965	B;B;B	0.22909	0.04;0.042;0.077	B;B;B	0.23275	0.012;0.045;0.018	D	0.91416	0.5155	10	0.49607	T	0.09	.	14.6706	0.68942	0.0:0.1468:0.8532:0.0	.	490;615;615	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	H	615;615;652;490	ENSP00000349595:R615H;ENSP00000378879:R615H;ENSP00000443101:R490H	ENSP00000349595:R615H	R	+	2	0	ATP2A1	28819482	1.000000	0.71417	0.769000	0.31535	0.837000	0.47467	6.651000	0.74372	1.203000	0.43233	0.485000	0.47835	CGT		0.612	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2		NM_004320		50	42	0	0	0	0.00361	0	50	42		
CD19	930	broad.mit.edu	37	16	28947484	28947484	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:28947484G>C	ENST00000324662.3	+	6	1001	c.957G>C	c.(955-957)ctG>ctC	p.L319L	CD19_ENST00000567541.1_Silent_p.L319L|CD19_ENST00000538922.1_Silent_p.L319L			P15391	CD19_HUMAN	CD19 molecule	319					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCCTGGTCCTGAGGAGGAAAA	0.577																																						uc002drs.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(955-957)CTG>CTC		CD19 antigen precursor							113.0	99.0	104.0					16																	28947484		2197	4300	6497	SO:0001819	synonymous_variant	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28947484G>C		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.957G>C	16.37:g.28947484G>C						uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.L319L	p.L319L	NM_001770	NP_001761	P15391	CD19_HUMAN			6	1019	+			319			Cytoplasmic (Potential).		A0N0P9|F5H635|Q96S68|Q9BRD6	Silent	SNP	ENST00000324662.3	37	c.957G>C	CCDS10644.1																																																																																				0.577	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2				22	52	0	0	0	0.007291	0	22	52		
ZNF646	9726	broad.mit.edu	37	16	31090894	31090894	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:31090894C>T	ENST00000394979.2	+	1	3672	c.3249C>T	c.(3247-3249)gtC>gtT	p.V1083V	ZNF646_ENST00000300850.5_Silent_p.V1083V			O15015	ZN646_HUMAN	zinc finger protein 646	1083					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)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TCTGCCCTGTCTGCTCCCGCT	0.627																																						uc002eap.2		NaN																	0				breast(2)	2						c.(3247-3249)GTC>GTT		zinc finger protein 646							139.0	145.0	143.0					16																	31090894		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090894C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3249C>T	16.37:g.31090894C>T							p.V1083V	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	3538	+			1083			C2H2-type 19.		Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.3249C>T																																																																																					0.627	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2		NM_014699		129	272	0	0	0	0.00361	0	129	272		
COX6A2	1339	broad.mit.edu	37	16	31439103	31439103	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:31439103G>T	ENST00000287490.4	-	3	388	c.286C>A	c.(286-288)Cac>Aac	p.H96N		NM_005205.3	NP_005196.1	Q02221	CX6A2_HUMAN	cytochrome c oxidase subunit VIa polypeptide 2	96					generation of precursor metabolites and energy (GO:0006091)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(2)|lung(1)	5						CCTCAGGGGTGTTCGTAGCCC	0.682																																						uc002ebx.1		NaN																	0					0						c.(286-288)CAC>AAC		cytochrome c oxidase subunit VIa polypeptide 2							42.0	43.0	43.0					16																	31439103		2197	4300	6497	SO:0001583	missense	1339				generation of precursor metabolites and energy	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity	g.chr16:31439103G>T	U66875, M83308	CCDS10712.1	16p11.12	2011-07-04			ENSG00000156885	ENSG00000156885	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2279	protein-coding gene	gene with protein product		602009				1327966, 9177785	Standard	NM_005205		Approved		uc002ebx.2	Q02221	OTTHUMG00000132463	ENST00000287490.4:c.286C>A	16.37:g.31439103G>T	ENSP00000287490:p.His96Asn						p.H96N	NM_005205	NP_005196	Q02221	CX6A2_HUMAN			3	361	-			96					O00761|Q6GTW6	Missense_Mutation	SNP	ENST00000287490.4	37	c.286C>A	CCDS10712.1	.	.	.	.	.	.	.	.	.	.	G	9.853	1.194133	0.22037	.	.	ENSG00000156885	ENST00000287490	.	.	.	4.89	-7.26	0.01466	.	1.410850	0.04036	N	0.302254	T	0.33411	0.0862	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35151	-0.9800	8	0.54805	T	0.06	-15.8177	9.9217	0.41468	0.0:0.2811:0.2623:0.4567	.	96	Q02221	CX6A2_HUMAN	N	96	.	ENSP00000287490:H96N	H	-	1	0	COX6A2	31346604	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	-0.402000	0.07223	-1.465000	0.01899	-0.823000	0.03104	CAC		0.682	COX6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255626.2		NM_005205		5	8	1	0	2.7689e-08	0.001984	2.90865e-08	5	8		
ARMC5	79798	broad.mit.edu	37	16	31476086	31476086	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:31476086A>C	ENST00000563544.1	+	5	2288	c.1742A>C	c.(1741-1743)gAg>gCg	p.E581A	ARMC5_ENST00000457010.2_Missense_Mutation_p.E581A|ARMC5_ENST00000538189.1_Missense_Mutation_p.E613A|ARMC5_ENST00000408912.3_Missense_Mutation_p.E676A|ARMC5_ENST00000268314.4_Missense_Mutation_p.E581A|ARMC5_ENST00000412665.2_Missense_Mutation_p.E225A			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	581										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCTGCCTCGAGGCCTTCGTG	0.716																																						uc002ecc.2		NaN																	0				pancreas(1)	1						c.(1741-1743)GAG>GCG		armadillo repeat containing 5 isoform a							12.0	14.0	13.0					16																	31476086		2137	4240	6377	SO:0001583	missense	79798						binding	g.chr16:31476086A>C	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1742A>C	16.37:g.31476086A>C	ENSP00000456877:p.Glu581Ala					ARMC5_uc010vfn.1_Missense_Mutation_p.E676A|ARMC5_uc010vfo.1_Missense_Mutation_p.E613A|ARMC5_uc002eca.3_Missense_Mutation_p.E581A|ARMC5_uc010vfp.1_Missense_Mutation_p.E389A|ARMC5_uc002ecb.2_Missense_Mutation_p.E581A	p.E581A	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			4	2271	+			581					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.1742A>C	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657623	0.88154	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010;ENST00000412665	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.055454	0.64402	D	0.000001	T	0.41673	0.1169	M	0.63843	1.955	0.44000	D	0.996704	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.79784	0.993;0.993;0.993;0.98;0.993	T	0.12967	-1.0527	10	0.27082	T	0.32	-17.071	13.6929	0.62559	1.0:0.0:0.0:0.0	.	613;613;676;581;581	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	A	676;613;581;581;225	ENSP00000386125:E676A;ENSP00000443995:E613A;ENSP00000268314:E581A;ENSP00000399561:E581A;ENSP00000400183:E225A	ENSP00000268314:E581A	E	+	2	0	ARMC5	31383587	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	3.263000	0.51546	2.129000	0.65627	0.260000	0.18958	GAG		0.716	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1		NM_024742		5	13	0	0	0	0.001168	0	5	13		
CX3CL1	6376	broad.mit.edu	37	16	57416799	57416799	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:57416799G>T	ENST00000006053.6	+	3	1160	c.1049G>T	c.(1048-1050)gGc>gTc	p.G350V	CX3CL1_ENST00000563383.1_Missense_Mutation_p.G356V|CX3CL1_ENST00000565912.1_Missense_Mutation_p.G312V	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	350					angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCTTCCTTGGCCTCCTCTTC	0.667																																						uc002eli.2		NaN																	0					0						c.(1048-1050)GGC>GTC		chemokine (C-X3-C motif) ligand 1 precursor							50.0	52.0	51.0					16																	57416799		2198	4300	6498	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416799G>T	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.1049G>T	16.37:g.57416799G>T	ENSP00000006053:p.Gly350Val						p.G350V	NM_002996	NP_002987	P78423	X3CL1_HUMAN			3	1116	+			350			Helical; (Potential).		O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.1049G>T	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030322	0.75504	.	.	ENSG00000006210	ENST00000006053	T	0.24151	1.87	5.19	5.19	0.71726	.	0.554081	0.14973	N	0.287731	T	0.42404	0.1201	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23404	-1.0189	10	0.87932	D	0	-8.3737	14.2662	0.66121	0.0:0.0:1.0:0.0	.	350	P78423	X3CL1_HUMAN	V	350	ENSP00000006053:G350V	ENSP00000006053:G350V	G	+	2	0	CX3CL1	55974300	1.000000	0.71417	0.990000	0.47175	0.945000	0.59286	4.355000	0.59424	2.412000	0.81896	0.558000	0.71614	GGC		0.667	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3		NM_002996		14	2	1	0	0.000132079	0.008871	0.000135122	14	2		
GPR56	9289	broad.mit.edu	37	16	57685294	57685294	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:57685294G>T	ENST00000388812.4	+	3	687	c.247G>T	c.(247-249)Gac>Tac	p.D83Y	GPR56_ENST00000388813.5_Missense_Mutation_p.D83Y|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000540164.2_Missense_Mutation_p.D83Y|GPR56_ENST00000379696.3_Missense_Mutation_p.D83Y|GPR56_ENST00000538815.1_Missense_Mutation_p.D83Y|GPR56_ENST00000568908.1_Missense_Mutation_p.D83Y|GPR56_ENST00000562631.1_Missense_Mutation_p.D83Y|GPR56_ENST00000567835.1_Missense_Mutation_p.D83Y|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000562558.1_Missense_Mutation_p.D83Y|GPR56_ENST00000568909.1_Missense_Mutation_p.D83Y|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000456916.1_Missense_Mutation_p.D83Y			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	83					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						ATCCTTCCCTGACCCCAGGGG	0.577																																						uc002emb.2		NaN																	0					0						c.(247-249)GAC>TAC		G protein-coupled receptor 56 isoform a							152.0	148.0	149.0					16																	57685294		2198	4300	6498	SO:0001583	missense	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57685294G>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.247G>T	16.37:g.57685294G>T	ENSP00000373464:p.Asp83Tyr					GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Missense_Mutation_p.D83Y|GPR56_uc002emf.2_Missense_Mutation_p.D83Y|GPR56_uc010vhs.1_Missense_Mutation_p.D83Y|GPR56_uc002emd.2_Missense_Mutation_p.D83Y|GPR56_uc002eme.2_Missense_Mutation_p.D83Y|GPR56_uc010vht.1_Missense_Mutation_p.D88Y|GPR56_uc002emg.3_Missense_Mutation_p.D83Y|GPR56_uc010vhu.1_5'UTR	p.D83Y	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			4	539	+			83			Extracellular (Potential).		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	c.247G>T	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	G	6.472	0.455303	0.12283	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000379696	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.56	-1.71	0.08133	.	1.440990	0.04265	N	0.341059	T	0.22666	0.0547	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.28998	0.148;0.23;0.148	B;B;B	0.26969	0.054;0.075;0.034	T	0.29971	-0.9994	10	0.62326	D	0.03	.	6.1476	0.20294	0.0977:0.4675:0.3243:0.1106	.	88;83;83	B4DR54;Q9Y653-2;Q9Y653	.;.;GPR56_HUMAN	Y	83	ENSP00000373465:D83Y;ENSP00000373464:D83Y;ENSP00000444415:D83Y;ENSP00000398034:D83Y;ENSP00000444911:D83Y;ENSP00000369018:D83Y	ENSP00000369018:D83Y	D	+	1	0	GPR56	56242795	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.118000	0.10692	0.037000	0.15575	-0.795000	0.03280	GAC		0.577	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3				32	4	1	0	1.52319e-26	0.00874	1.75813e-26	32	4		
SLC9A5	6553	broad.mit.edu	37	16	67290524	67290524	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:67290524C>A	ENST00000299798.11	+	6	1129	c.1064C>A	c.(1063-1065)tCt>tAt	p.S355Y		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	355					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GTGGACTCTTCTAAGTGGGCC	0.537																																						uc002esm.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1063-1065)TCT>TAT		solute carrier family 9 (sodium/hydrogen							150.0	155.0	153.0					16																	67290524		2106	4227	6333	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67290524C>A		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1064C>A	16.37:g.67290524C>A	ENSP00000299798:p.Ser355Tyr					SLC9A5_uc010cee.2_Missense_Mutation_p.S60Y|SLC9A5_uc010vji.1_5'UTR	p.S355Y	NM_004594	NP_004585	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	6	1127	+		Ovarian(137;0.0563)	355					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1064C>A	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420143	0.83559	.	.	ENSG00000135740	ENST00000299798	T	0.57436	0.4	5.63	5.63	0.86233	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	L	0.37750	1.13	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.64478	-0.6398	10	0.51188	T	0.08	.	19.032	0.92961	0.0:1.0:0.0:0.0	.	355	Q14940	SL9A5_HUMAN	Y	355	ENSP00000299798:S355Y	ENSP00000299798:S355Y	S	+	2	0	SLC9A5	65848025	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.728000	0.62000	2.814000	0.96858	0.655000	0.94253	TCT		0.537	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1				56	3	1	0	5.41189e-41	0.00361	6.37933e-41	56	3		
ACD	65057	broad.mit.edu	37	16	67693135	67693135	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:67693135C>T	ENST00000393919.4	-	6	1012	c.748G>A	c.(748-750)Gca>Aca	p.A250T	PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000219255.3_5'Flank|ACD_ENST00000219251.8_Missense_Mutation_p.A247T			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	250	Interaction with POT1.				intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		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)		ACAGTACCTGCATTGGACGAG	0.532																																						uc002etq.3		NaN																	0				pancreas(1)	1						c.(748-750)GCA>ACA		adrenocortical dysplasia homolog isoform 1							190.0	183.0	185.0					16																	67693135		2198	4300	6498	SO:0001583	missense	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67693135C>T	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.748G>A	16.37:g.67693135C>T	ENSP00000377496:p.Ala250Thr					ACD_uc002etp.3_Missense_Mutation_p.A247T|ACD_uc002etr.3_Missense_Mutation_p.A247T|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	p.A250T	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	6	1085	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	250			Interaction with POT1.		Q562H5|Q9H8F9	Missense_Mutation	SNP	ENST00000393919.4	37	c.748G>A	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	C	9.058	0.993724	0.19043	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.34072	1.38;1.38	4.42	-8.37	0.00976	.	1.351330	0.04723	N	0.419661	T	0.14960	0.0361	N	0.12182	0.205	0.18873	N	0.999982	B;B	0.09022	0.002;0.002	B;B	0.15052	0.012;0.007	T	0.13150	-1.0520	10	0.30078	T	0.28	.	2.5519	0.04750	0.1112:0.1526:0.3744:0.3618	.	250;247	Q96AP0;Q96AP0-2	ACD_HUMAN;.	T	247;250	ENSP00000219251:A247T;ENSP00000377496:A250T	ENSP00000219251:A247T	A	-	1	0	ACD	66250636	0.001000	0.12720	0.002000	0.10522	0.025000	0.11179	-0.895000	0.04118	-1.275000	0.02417	-0.448000	0.05591	GCA		0.532	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1		NM_022914		67	4	0	0	0	0.00361	0	67	4		
NFAT5	10725	broad.mit.edu	37	16	69729203	69729203	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:69729203C>A	ENST00000354436.2	+	13	4843	c.4525C>A	c.(4525-4527)Cag>Aag	p.Q1509K	NFAT5_ENST00000432919.1_Missense_Mutation_p.Q1527K|NFAT5_ENST00000349945.1_Missense_Mutation_p.Q1433K|NFAT5_ENST00000566899.1_Missense_Mutation_p.Q1433K|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q1433K|NFAT5_ENST00000567239.1_Missense_Mutation_p.Q1526K	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1509					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AAACACCAACCAGAACATCGA	0.438																																						uc002exm.1		NaN																	0					0						c.(4525-4527)CAG>AAG		nuclear factor of activated T-cells 5 isoform c							126.0	119.0	122.0					16																	69729203		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69729203C>A	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4525C>A	16.37:g.69729203C>A	ENSP00000346420:p.Gln1509Lys					NFAT5_uc002exi.2_Missense_Mutation_p.Q1433K|NFAT5_uc002exj.1_Missense_Mutation_p.Q1433K|NFAT5_uc002exk.1_Missense_Mutation_p.Q1433K|NFAT5_uc002exl.1_Missense_Mutation_p.Q1527K|NFAT5_uc002exn.1_Missense_Mutation_p.Q1526K|NFAT5_uc002exo.1_Intron	p.Q1509K	NM_006599	NP_006590	O94916	NFAT5_HUMAN			13	5733	+			1509					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.4525C>A	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720028	0.89205	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.48522	0.81;0.82;0.82;0.82	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	L	0.56769	1.78	0.54753	D	0.999986	D;D;D	0.54964	0.969;0.969;0.969	D;D;D	0.64877	0.93;0.93;0.93	T	0.65990	-0.6034	10	0.66056	D	0.02	-1.2734	20.1542	0.98100	0.0:1.0:0.0:0.0	.	1526;1509;1527	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	K	1527;1526;1433;1509;1433	ENSP00000396538:Q1527K;ENSP00000338806:Q1433K;ENSP00000346420:Q1509K;ENSP00000377343:Q1433K	ENSP00000338806:Q1433K	Q	+	1	0	NFAT5	68286704	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.019000	0.70818	2.767000	0.95098	0.563000	0.77884	CAG		0.438	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2		NM_138714		45	0	1	0	1.53716e-24	0.00361	1.77119e-24	45	0		
VAT1L	57687	broad.mit.edu	37	16	77896683	77896683	+	Silent	SNP	C	C	T	rs147711332		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:77896683C>T	ENST00000302536.2	+	4	771	c.618C>T	c.(616-618)aaC>aaT	p.N206N	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	206							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CTGTCCCCAACGTGACTGTCT	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15797	0.0		0.0	False		,,,				2504	0.0					uc002ffg.1		NaN																	0				central_nervous_system(1)	1						c.(616-618)AAC>AAT		vesicle amine transport protein 1 homolog (T.		C		3,4393	6.2+/-15.9	0,3,2195	179.0	149.0	159.0		618	-2.3	1.0	16	dbSNP_134	159	0,8600		0,0,4300	no	coding-synonymous	VAT1L	NM_020927.1		0,3,6495	TT,TC,CC		0.0,0.0682,0.0231		206/420	77896683	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	57687						oxidoreductase activity|zinc ion binding	g.chr16:77896683C>T	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.618C>T	16.37:g.77896683C>T							p.N206N	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			4	715	+			206					Q8IYW8	Silent	SNP	ENST00000302536.2	37	c.618C>T	CCDS32492.1																																																																																				0.478	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1		NM_020927		54	4	0	0	0	0.00361	0	54	4		
OR1A2	26189	broad.mit.edu	37	17	3100986	3100986	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:3100986C>T	ENST00000381951.1	+	1	174	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	58					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TTCACAACCCCATGTATTTTC	0.463																																						uc002fvd.1		NaN																	0				skin(2)	2						c.(172-174)CCC>CCT		olfactory receptor, family 1, subfamily A,							295.0	251.0	266.0					17																	3100986		2203	4300	6503	SO:0001819	synonymous_variant	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3100986C>T	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.174C>T	17.37:g.3100986C>T							p.P58P	NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN			1	174	+			58			Helical; Name=2; (Potential).		Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Silent	SNP	ENST00000381951.1	37	c.174C>T	CCDS11021.1																																																																																				0.463	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1		NM_012352		112	168	0	0	0	0.00361	0	112	168		
TRPV1	7442	broad.mit.edu	37	17	3477062	3477062	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:3477062G>C	ENST00000571088.1	-	13	2181	c.1968C>G	c.(1966-1968)ttC>ttG	p.F656L	SHPK_ENST00000572705.1_Missense_Mutation_p.F656L|TRPV1_ENST00000399756.4_Missense_Mutation_p.F656L|TRPV1_ENST00000174621.6_Missense_Mutation_p.F654L|TRPV1_ENST00000425167.2_Missense_Mutation_p.F667L|TRPV1_ENST00000576351.1_Missense_Mutation_p.F646L|TRPV1_ENST00000399759.3_Missense_Mutation_p.F656L|TRPV1_ENST00000310522.5_Missense_Mutation_p.F596L	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	656					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGACAGCCTTGAAGTCATAGT	0.527																																					Melanoma(38;962 1762 15789)	uc010vrr.1		NaN																	0				ovary(1)	1						c.(1966-1968)TTC>TTG		transient receptor potential cation channel,	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						136.0	138.0	137.0					17																	3477062		2198	4300	6498	SO:0001583	missense	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3477062G>C	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1968C>G	17.37:g.3477062G>C	ENSP00000461007:p.Phe656Leu					TRPV1_uc010vro.1_Missense_Mutation_p.F667L|TRPV1_uc010vrp.1_Missense_Mutation_p.F596L|TRPV1_uc010vrq.1_Missense_Mutation_p.F654L|TRPV1_uc010vrs.1_Missense_Mutation_p.F656L|TRPV1_uc010vrt.1_Missense_Mutation_p.F656L|TRPV1_uc010vru.1_Missense_Mutation_p.F656L	p.F656L	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	12	2495	-			656					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.1968C>G	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974565	0.53720	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	5.51	4.54	0.55810	Ion transport (1);	0.162177	0.56097	D	0.000025	D	0.83046	0.5169	L	0.38838	1.175	0.41780	D	0.989814	P;P;B;P	0.48911	0.588;0.893;0.262;0.917	B;B;B;B	0.43680	0.354;0.427;0.157;0.293	D	0.85123	0.0970	10	0.72032	D	0.01	-23.5399	13.4958	0.61426	0.0752:0.0:0.9248:0.0	.	656;654;596;667	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	L	656;656;654;667;596	ENSP00000382661:F656L;ENSP00000382659:F656L;ENSP00000174621:F654L;ENSP00000409627:F667L;ENSP00000311692:F596L	ENSP00000174621:F654L	F	-	3	2	TRPV1	3423812	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	3.711000	0.54868	1.471000	0.48121	0.491000	0.48974	TTC		0.527	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1		NM_018727		34	50	0	0	0	0.00623	0	34	50		
ZZEF1	23140	broad.mit.edu	37	17	3919633	3919633	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:3919633T>C	ENST00000381638.2	-	49	8253	c.8129A>G	c.(8128-8130)aAc>aGc	p.N2710S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2710							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTTGGTGTTGTTGTTATACGG	0.612																																						uc002fxe.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(8128-8130)AAC>AGC		zinc finger, ZZ type with EF hand domain 1							181.0	136.0	151.0					17																	3919633		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3919633T>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8129A>G	17.37:g.3919633T>C	ENSP00000371051:p.Asn2710Ser					ZZEF1_uc002fxg.1_Missense_Mutation_p.N31S	p.N2710S	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			49	8193	-			2710					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.8129A>G	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	19.79	3.893162	0.72524	.	.	ENSG00000074755	ENST00000381638	T	0.22336	1.96	5.79	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.14485	0.0350	N	0.17082	0.46	0.50467	D	0.999871	P	0.44044	0.825	B	0.40329	0.326	T	0.03335	-1.1047	10	0.39692	T	0.17	-20.7165	12.9996	0.58667	0.0:0.0:0.135:0.865	.	2710	O43149	ZZEF1_HUMAN	S	2710	ENSP00000371051:N2710S	ENSP00000371051:N2710S	N	-	2	0	ZZEF1	3866382	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.698000	0.84413	0.994000	0.38892	0.528000	0.53228	AAC		0.612	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		37	48	0	0	0	0.00361	0	37	48		
MINK1	50488	broad.mit.edu	37	17	4797304	4797304	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:4797304C>T	ENST00000355280.6	+	22	2782	c.2586C>T	c.(2584-2586)agC>agT	p.S862S	MINK1_ENST00000453408.3_Silent_p.S842S|MINK1_ENST00000347992.7_Silent_p.S833S	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ATACAGACAGCGTCAGCACCA	0.657																																						uc010vsl.1		NaN																	0				central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(2584-2586)AGC>AGT		misshapen-like kinase 1 isoform 3							26.0	31.0	30.0					17																	4797304		2053	4193	6246	SO:0001819	synonymous_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4797304C>T	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2586C>T	17.37:g.4797304C>T						MINK1_uc010vsk.1_Silent_p.S833S|MINK1_uc010vsm.1_Silent_p.S842S|MINK1_uc010vsn.1_Silent_p.S825S|MINK1_uc010vso.1_Silent_p.S770S|MINK1_uc010vsp.1_Silent_p.S323S	p.S862S	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN			22	2782	+			862						Silent	SNP	ENST00000355280.6	37	c.2586C>T	CCDS45588.1																																																																																				0.657	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1		NM_015716		6	11	0	0	0	0.008291	0	6	11		
KIAA0753	9851	broad.mit.edu	37	17	6493200	6493200	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:6493200C>T	ENST00000361413.3	-	18	3043	c.2685G>A	c.(2683-2685)atG>atA	p.M895I	KIAA0753_ENST00000542606.1_Missense_Mutation_p.M596I|KIAA0753_ENST00000589033.1_Missense_Mutation_p.M351I|KIAA0753_ENST00000572370.1_Missense_Mutation_p.M596I|KIAA0753_ENST00000575027.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	895						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGCTGTGCTGCATACCCGGTG	0.522																																						uc002gde.3		NaN																	0					0						c.(2683-2685)ATG>ATA		hypothetical protein LOC9851							101.0	101.0	101.0					17																	6493200		1894	4118	6012	SO:0001583	missense	9851					centrosome		g.chr17:6493200C>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.2685G>A	17.37:g.6493200C>T	ENSP00000355250:p.Met895Ile					KIAA0753_uc010vtd.1_Missense_Mutation_p.M351I|KIAA0753_uc010clo.2_Missense_Mutation_p.M596I|KIAA0753_uc010vte.1_Missense_Mutation_p.M596I	p.M895I	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	18	3044	-			895					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.2685G>A	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253769	0.59212	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	T;T	0.41758	0.99;0.99	5.64	4.62	0.57501	.	0.259034	0.48767	D	0.000175	T	0.44644	0.1303	L	0.59436	1.845	0.37262	D	0.907043	P	0.48294	0.908	P	0.45753	0.492	T	0.50242	-0.8851	10	0.40728	T	0.16	-18.009	14.1161	0.65154	0.0:0.8485:0.1515:0.0	.	895	Q2KHM9	K0753_HUMAN	I	895;596;351	ENSP00000355250:M895I;ENSP00000444634:M596I	ENSP00000355250:M895I	M	-	3	0	KIAA0753	6433924	0.981000	0.34729	0.964000	0.40570	0.108000	0.19459	1.785000	0.38684	2.837000	0.97791	0.655000	0.94253	ATG		0.522	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3		NM_014804		24	30	0	0	0	0.009535	0	24	30		
XAF1	54739	broad.mit.edu	37	17	6674105	6674105	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:6674105A>T	ENST00000361842.3	+	6	890	c.651A>T	c.(649-651)atA>atT	p.I217I	XAF1_ENST00000441631.1_Silent_p.I217I|XAF1_ENST00000346752.4_Silent_p.I198I	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	217					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CAAGAAGTATAAACAGATTTC	0.398																																						uc002gdn.2		NaN																	0					0						c.(649-651)ATA>ATT		XIAP associated factor 1 isoform 1							84.0	84.0	84.0					17																	6674105		2203	4300	6503	SO:0001819	synonymous_variant	54739				apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding	g.chr17:6674105A>T	X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.651A>T	17.37:g.6674105A>T						XAF1_uc002gdm.1_Silent_p.I157I|XAF1_uc002gdo.2_Silent_p.I198I|XAF1_uc002gdp.2_Silent_p.I166I|XAF1_uc002gdq.2_Silent_p.I49I|XAF1_uc002gdr.2_Silent_p.I147I	p.I217I	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN			6	893	+			217					A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Silent	SNP	ENST00000361842.3	37	c.651A>T	CCDS11080.1																																																																																				0.398	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5		NM_017523		18	13	0	0	0	0.012319	0	18	13		
C17orf74	201243	broad.mit.edu	37	17	7330284	7330284	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:7330284C>A	ENST00000333870.3	+	3	1048	c.974C>A	c.(973-975)cCt>cAt	p.P325H	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	325						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GAGCGCCCCCCTGCCTCGGTG	0.697																																						uc002ggw.2		NaN																	0					0						c.(973-975)CCT>CAT		hypothetical protein LOC201243							19.0	22.0	21.0					17																	7330284		1971	4138	6109	SO:0001583	missense	201243					integral to membrane		g.chr17:7330284C>A	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.974C>A	17.37:g.7330284C>A	ENSP00000328061:p.Pro325His					FGF11_uc010vtw.1_Intron	p.P325H	NM_175734	NP_783861	Q0P670	CQ074_HUMAN			3	1047	+		Prostate(122;0.157)	325						Missense_Mutation	SNP	ENST00000333870.3	37	c.974C>A	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	3.481	-0.105806	0.06924	.	.	ENSG00000184560	ENST00000333870	T	0.39997	1.05	4.59	-1.42	0.08913	.	0.686998	0.12064	N	0.502821	T	0.24547	0.0595	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.22556	-1.0213	10	0.72032	D	0.01	-11.9276	4.1796	0.10369	0.1556:0.3015:0.4504:0.0925	.	325	Q0P670	CQ074_HUMAN	H	325	ENSP00000328061:P325H	ENSP00000328061:P325H	P	+	2	0	C17orf74	7271008	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.063000	0.11655	0.130000	0.18549	-0.325000	0.08501	CCT		0.697	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2		NM_175734		23	12	1	0	3.01185e-09	0.003954	3.19409e-09	23	12		
CHD3	1107	broad.mit.edu	37	17	7800409	7800409	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:7800409C>G	ENST00000330494.7	+	11	1866	c.1716C>G	c.(1714-1716)atC>atG	p.I572M	CHD3_ENST00000380358.4_Missense_Mutation_p.I631M|CHD3_ENST00000358181.4_Missense_Mutation_p.I572M	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	572	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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)				AGCTGGAAATCTTCCATTTGG	0.532																																						uc002gje.2		NaN																	0				breast(1)	1						c.(1714-1716)ATC>ATG		chromodomain helicase DNA binding protein 3							60.0	54.0	56.0					17																	7800409		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.chr17:7800409C>G	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.1716C>G	17.37:g.7800409C>G	ENSP00000332628:p.Ile572Met					CHD3_uc002gjd.2_Missense_Mutation_p.I631M|CHD3_uc002gjf.2_Missense_Mutation_p.I572M|CHD3_uc002gjg.1_Missense_Mutation_p.I400M	p.I572M	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			11	1866	+		Prostate(122;0.202)	572			Chromo 1.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.1716C>G	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.92|12.92	2.083410|2.083410	0.36758|0.36758	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494|ENST00000452447	T;T;T|.	0.43688|.	0.94;0.94;0.94|.	5.75|5.75	1.22|1.22	0.21188|0.21188	Chromo domain-like (1);Chromo domain/shadow (2);|.	0.000000|.	0.45867|.	D|.	0.000334|.	T|T	0.53142|0.53142	0.1778|0.1778	L|L	0.48642|0.48642	1.525|1.525	0.50313|0.50313	D|D	0.999864|0.999864	D;D;D|.	0.61080|.	0.986;0.989;0.989|.	P;P;P|.	0.62298|.	0.792;0.9;0.9|.	T|T	0.41484|0.41484	-0.9506|-0.9506	10|5	0.72032|.	D|.	0.01|.	-17.4677|-17.4677	7.0192|7.0192	0.24904|0.24904	0.1186:0.6734:0.0:0.2081|0.1186:0.6734:0.0:0.2081	.|.	572;572;631|.	Q12873-2;Q12873;E9PG89|.	.;CHD3_HUMAN;.|.	M|V	631;572;572|443	ENSP00000369716:I631M;ENSP00000350907:I572M;ENSP00000332628:I572M|.	ENSP00000332628:I572M|.	I|L	+|+	3|1	3|0	CHD3|CHD3	7741134|7741134	0.909000|0.909000	0.30893|0.30893	1.000000|1.000000	0.80357|0.80357	0.828000|0.828000	0.46876|0.46876	0.079000|0.079000	0.14782|0.14782	0.289000|0.289000	0.22422|0.22422	-0.390000|-0.390000	0.06520|0.06520	ATC|CTT		0.532	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1		NM_001005273		9	43	0	0	0	0.010729	0	9	43		
COX10	1352	broad.mit.edu	37	17	13977769	13977769	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:13977769G>A	ENST00000261643.3	+	2	250	c.173G>A	c.(172-174)cGc>cAc	p.R58H	COX10_ENST00000429152.2_Missense_Mutation_p.R58H|COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	58					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TTCCTCAAACGCATGGTATGT	0.348																																						uc002gof.3		NaN																	0					0						c.(172-174)CGC>CAC		heme A:farnesyltransferase precursor							182.0	179.0	180.0					17																	13977769		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:13977769G>A	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.173G>A	17.37:g.13977769G>A	ENSP00000261643:p.Arg58His					COX10_uc010vvs.1_5'UTR|COX10_uc010vvt.1_5'UTR	p.R58H	NM_001303	NP_001294	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	2	377	+		all_lung(20;0.06)|Lung SC(565;0.168)	58					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.173G>A	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424410	0.43020	.	.	ENSG00000006695	ENST00000261643	T	0.38240	1.15	5.33	3.19	0.36642	.	0.253716	0.38959	N	0.001507	T	0.27731	0.0682	L	0.38175	1.15	0.80722	D	1	B	0.15473	0.013	B	0.10450	0.005	T	0.09314	-1.0680	10	0.46703	T	0.11	-15.4661	10.6692	0.45749	0.1712:0.0:0.8288:0.0	.	58	Q12887	COX10_HUMAN	H	58	ENSP00000261643:R58H	ENSP00000261643:R58H	R	+	2	0	COX10	13918494	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	3.428000	0.52792	1.273000	0.44346	0.585000	0.79938	CGC		0.348	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1		NM_001303		77	110	0	0	0	0.00361	0	77	110		
RAI1	10743	broad.mit.edu	37	17	17697690	17697690	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:17697690T>G	ENST00000353383.1	+	3	1897	c.1428T>G	c.(1426-1428)caT>caG	p.H476Q	RAI1_ENST00000261641.6_Missense_Mutation_p.H476Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	476					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAGAGCAGCATAAAAGCCAGC	0.627																																						uc002grm.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1426-1428)CAT>CAG		retinoic acid induced 1							45.0	49.0	48.0					17																	17697690		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17697690T>G	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.1428T>G	17.37:g.17697690T>G	ENSP00000323074:p.His476Gln					RAI1_uc002grn.1_Missense_Mutation_p.H476Q	p.H476Q	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	1897	+			476					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.1428T>G	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.881614	0.33255	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.65178	-0.14;1.48;0.46	5.41	3.29	0.37713	.	0.320828	0.30528	N	0.009422	T	0.45498	0.1345	L	0.44542	1.39	0.29529	N	0.852934	P	0.44521	0.837	B	0.37451	0.25	T	0.42832	-0.9428	10	0.27082	T	0.32	.	5.982	0.19413	0.1384:0.6545:0.1339:0.0732	.	476	Q7Z5J4	RAI1_HUMAN	Q	476;476;476;476;476;428	ENSP00000323074:H476Q;ENSP00000379120:H476Q;ENSP00000261641:H476Q	ENSP00000261641:H476Q	H	+	3	2	RAI1	17638415	0.984000	0.35163	1.000000	0.80357	0.904000	0.53231	0.194000	0.17135	1.285000	0.44548	-0.252000	0.11476	CAT		0.627	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1		NM_030665		9	27	0	0	0	0.001855	0	9	27		
CCDC144CP	348254	broad.mit.edu	37	17	18513402	18513402	+	IGR	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:18513402C>A								CCDC144B (3698 upstream) : TBC1D28 (24916 downstream)																							TGGCACAGGTCATGGAGAGTA	0.433																																						uc002gub.1		NaN																	0				ovary(1)|skin(1)	2						c.(619-621)GAC>TAC		coiled-coil domain containing 144B							108.0	111.0	110.0					17																	18513402		1845	4083	5928	SO:0001628	intergenic_variant	284047							g.chr17:18513402C>A																													17.37:g.18513402C>A						CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA|CCDC144B_uc002guc.1_Missense_Mutation_p.D207Y	p.D207Y	NM_182568	NP_872374					3	704	-									Missense_Mutation	SNP		37	c.619G>T																																																																																				0	0.433										42	95	1	0	1.61004e-24	0.00361	1.85196e-24	42	95		
MAPK7	5598	broad.mit.edu	37	17	19286175	19286175	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:19286175G>A	ENST00000308406.5	+	6	2599	c.2213G>A	c.(2212-2214)gGg>gAg	p.G738E	MAPK7_ENST00000395602.4_Missense_Mutation_p.G738E|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000299612.7_Missense_Mutation_p.G599E|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.G738E	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	738	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGGGCAGTGGGGCTGGCTAC	0.577																																						uc002gvn.2		NaN																	0				central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(2212-2214)GGG>GAG		mitogen-activated protein kinase 7 isoform 1							129.0	127.0	127.0					17																	19286175		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19286175G>A	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2213G>A	17.37:g.19286175G>A	ENSP00000311005:p.Gly738Glu					MAPK7_uc002gvo.2_Missense_Mutation_p.G599E|MAPK7_uc002gvq.2_Missense_Mutation_p.G738E|MAPK7_uc002gvp.2_Missense_Mutation_p.G738E|uc010vyt.1_5'Flank	p.G738E	NM_139033	NP_620602	Q13164	MK07_HUMAN			6	2599	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		738			May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.2213G>A	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892308	0.72524	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	D;D;D;D	0.83506	-1.52;-1.73;-1.52;-1.52	4.92	3.96	0.45880	.	0.055891	0.64402	N	0.000001	T	0.78207	0.4247	M	0.61703	1.905	0.47094	D	0.999313	P	0.38711	0.643	B	0.33392	0.163	T	0.79799	-0.1651	10	0.87932	D	0	-23.4145	10.9546	0.47349	0.0912:0.0:0.9088:0.0	.	738	Q13164	MK07_HUMAN	E	738;599;738;738	ENSP00000311005:G738E;ENSP00000299612:G599E;ENSP00000378968:G738E;ENSP00000378966:G738E	ENSP00000299612:G599E	G	+	2	0	MAPK7	19226768	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.617000	0.90927	1.312000	0.45043	-0.339000	0.08088	GGG		0.577	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1		NM_139033		60	68	0	0	0	0.00361	0	60	68		
ACACA	31	broad.mit.edu	37	17	35454054	35454054	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:35454054C>G	ENST00000394406.2	-	54	6847	c.6657G>C	c.(6655-6657)ctG>ctC	p.L2219L	ACACA_ENST00000361253.5_Silent_p.L345L|ACACA_ENST00000335166.5_Silent_p.L2141L|ACACA_ENST00000353139.5_Silent_p.L2256L|ACACA_ENST00000360679.3_Silent_p.L2161L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2219					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAAGACGCCTCAGCCGCCAGT	0.488																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(6655-6657)CTG>CTC		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						78.0	72.0	74.0					17																	35454054		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35454054C>G	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6657G>C	17.37:g.35454054C>G						ACACA_uc002hnk.2_Silent_p.L2141L|ACACA_uc002hnl.2_Silent_p.L2161L|ACACA_uc002hnn.2_Silent_p.L2219L|ACACA_uc002hno.2_Silent_p.L2256L|ACACA_uc010cuy.2_Silent_p.L864L|ACACA_uc010wdb.1_Silent_p.L257L|ACACA_uc010wdc.1_Silent_p.L345L	p.L2219L	NM_198836	NP_942133	Q13085	ACACA_HUMAN			54	6848	-		Breast(25;0.00157)|Ovarian(249;0.15)	2219					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.6657G>C	CCDS11317.1																																																																																				0.488	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		19	11	0	0	0	0.00278	0	19	11		
KRT222	125113	broad.mit.edu	37	17	38812797	38812797	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:38812797G>C	ENST00000476049.1	-	6	786	c.745C>G	c.(745-747)Ctt>Gtt	p.L249V	KRT222_ENST00000394052.3_Missense_Mutation_p.L249V			Q8N1A0	KT222_HUMAN	keratin 222	249						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TCAAATCGAAGAGAAACAGAC	0.363																																						uc002hvc.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(745-747)CTT>GTT		truncated type I keratin KA21							97.0	91.0	93.0					17																	38812797		2203	4300	6503	SO:0001583	missense	125113					intermediate filament	structural molecule activity	g.chr17:38812797G>C	AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.745C>G	17.37:g.38812797G>C	ENSP00000463483:p.Leu249Val					KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Missense_Mutation_p.L209V	p.L249V	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN			6	810	-			249					Q7Z368	Missense_Mutation	SNP	ENST00000476049.1	37	c.745C>G	CCDS11371.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056130	0.76074	.	.	ENSG00000213424	ENST00000394049;ENST00000394052	D	0.89343	-2.5	5.93	5.93	0.95920	.	0.590904	0.15539	U	0.257065	D	0.90817	0.7116	L	0.29908	0.895	0.50171	D	0.999856	D	0.76494	0.999	D	0.78314	0.991	D	0.90232	0.4280	10	0.87932	D	0	-9.6108	12.9802	0.58559	0.1149:0.0:0.8851:0.0	.	249	Q8N1A0	KT222_HUMAN	V	209;249	ENSP00000377616:L249V	ENSP00000377613:L209V	L	-	1	0	KRT222	36066323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.886000	0.56190	2.818000	0.97014	0.591000	0.81541	CTT		0.363	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1		NM_152349		23	34	0	0	0	0.004656	0	23	34		
KRTAP3-1	83896	broad.mit.edu	37	17	39165064	39165064	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:39165064G>A	ENST00000391588.1	-	1	302	c.263C>T	c.(262-264)cCt>cTt	p.P88L	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	88						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				CTCACAGCCAGGCTGAACATA	0.582																																						uc002hvt.1		NaN																	0					0						c.(262-264)CCT>CTT		keratin associated protein 3.1							48.0	45.0	46.0					17																	39165064		2203	4296	6499	SO:0001583	missense	83896					keratin filament	structural molecule activity	g.chr17:39165064G>A	AJ406931	CCDS32645.1	17q21.2	2013-06-25			ENSG00000212901	ENSG00000212901		"""Keratin associated proteins"""	16778	protein-coding gene	gene with protein product						11279113	Standard	NM_031958		Approved	KAP3.1	uc002hvt.1	Q9BYR8	OTTHUMG00000133595	ENST00000391588.1:c.263C>T	17.37:g.39165064G>A	ENSP00000375430:p.Pro88Leu						p.P88L	NM_031958	NP_114164	Q9BYR8	KRA31_HUMAN			1	303	-		Breast(137;0.00043)	88					Q14DM4	Missense_Mutation	SNP	ENST00000391588.1	37	c.263C>T	CCDS32645.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124512	0.56613	.	.	ENSG00000212901	ENST00000391588	T	0.25250	1.81	5.45	3.31	0.37934	.	0.285367	0.24841	N	0.035165	T	0.27419	0.0673	.	.	.	0.44834	D	0.997841	P	0.34587	0.458	B	0.38056	0.264	T	0.19353	-1.0308	9	0.87932	D	0	-5.4363	12.8441	0.57819	0.0:0.3116:0.6884:0.0	.	88	Q9BYR8	KRA31_HUMAN	L	88	ENSP00000375430:P88L	ENSP00000375430:P88L	P	-	2	0	KRTAP3-1	36418590	0.996000	0.38824	0.996000	0.52242	0.696000	0.40369	2.871000	0.48459	1.421000	0.47157	0.632000	0.83419	CCT		0.582	KRTAP3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257699.1				19	42	0	0	0	0.002299	0	19	42		
KRT36	8689	broad.mit.edu	37	17	39646100	39646100	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:39646100C>T	ENST00000328119.6	-	1	16	c.17G>A	c.(16-18)tGc>tAc	p.C6Y	KRT36_ENST00000393986.2_Intron	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	6	Head.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGTAGGGGTGCAGGTCTGGGT	0.582																																						uc002hwt.2		NaN																	0					0						c.(16-18)TGC>TAC		keratin 36							31.0	30.0	31.0					17																	39646100		2194	4287	6481	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39646100C>T	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.17G>A	17.37:g.39646100C>T	ENSP00000329165:p.Cys6Tyr						p.C6Y	NM_003771	NP_003762	O76013	KRT36_HUMAN			1	17	-		Breast(137;0.000286)	6			Head.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.17G>A	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	9.083	0.999793	0.19121	.	.	ENSG00000126337	ENST00000328119	T	0.81078	-1.45	5.56	5.56	0.83823	.	0.000000	0.49305	D	0.000151	T	0.69958	0.3169	L	0.38531	1.155	0.19300	N	0.99998	B	0.29612	0.251	B	0.21917	0.037	T	0.59236	-0.7492	9	.	.	.	.	12.3389	0.55083	0.0:0.8785:0.0:0.1215	.	6	O76013	KRT36_HUMAN	Y	6	ENSP00000329165:C6Y	.	C	-	2	0	KRT36	36899626	0.196000	0.23350	0.897000	0.35233	0.790000	0.44656	2.218000	0.42889	2.608000	0.88229	0.655000	0.94253	TGC		0.582	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1		NM_003771		9	37	0	0	0	0.006214	0	9	37		
ATP6V0A1	535	broad.mit.edu	37	17	40635081	40635081	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:40635081C>A	ENST00000343619.4	+	9	865	c.742C>A	c.(742-744)Cct>Act	p.P248T	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.P248T|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.P205T|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.P255T|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.P205T|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.P248T	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	248					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTATCCCTGTCCTGAGACACC	0.408																																						uc002hzr.2		NaN																	0				pancreas(1)	1						c.(742-744)CCT>ACT		ATPase, H+ transporting, lysosomal V0 subunit a1							83.0	81.0	82.0					17																	40635081		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40635081C>A	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.742C>A	17.37:g.40635081C>A	ENSP00000342951:p.Pro248Thr					ATP6V0A1_uc002hzq.2_Missense_Mutation_p.P248T|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.P255T|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.P205T|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.P205T|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.P107T	p.P248T	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	9	909	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	248			Cytoplasmic (Potential).		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.742C>A	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022996	0.93462	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.95017	0.8387	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.994;0.988;0.978;0.966	D;D;D;P;P	0.75484	0.986;0.973;0.973;0.903;0.89	D	0.95155	0.8276	10	0.66056	D	0.02	-9.3436	19.9785	0.97317	0.0:1.0:0.0:0.0	.	205;205;255;248;248	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	T	248;248;248;255;205	ENSP00000342951:P248T;ENSP00000444676:P248T;ENSP00000377415:P248T;ENSP00000264649:P255T;ENSP00000443991:P205T	ENSP00000264649:P255T	P	+	1	0	ATP6V0A1	37888607	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.720000	0.93068	0.563000	0.77884	CCT		0.408	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1		NM_001130020		16	50	1	0	3.51602e-12	0.008871	3.82001e-12	16	50		
SPPL2C	162540	broad.mit.edu	37	17	43922946	43922946	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:43922946G>A	ENST00000329196.5	+	1	691	c.674G>A	c.(673-675)gGt>gAt	p.G225D	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	225						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										GGGGGGTCTGGTGGTCACCAT	0.652																																						uc010wka.1		NaN																	0				pancreas(2)	2						c.(673-675)GGT>GAT		intramembrane protease 5 precursor							38.0	39.0	39.0					17																	43922946		2203	4300	6503	SO:0001583	missense	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43922946G>A		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.674G>A	17.37:g.43922946G>A	ENSP00000332488:p.Gly225Asp					LOC100128977_uc010wjz.1_Intron	p.G225D	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	1	674	+	Colorectal(2;0.0416)		225			Cytoplasmic (Potential).		Q8TC67|Q8WVZ6	Missense_Mutation	SNP	ENST00000329196.5	37	c.674G>A	CCDS32673.1	.	.	.	.	.	.	.	.	.	.	G	0.324	-0.960290	0.02267	.	.	ENSG00000185294	ENST00000329196	T	0.04862	3.54	5.24	1.03	0.20045	.	.	.	.	.	T	0.05731	0.0150	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.45293	-0.9271	9	0.14252	T	0.57	-12.8853	7.2751	0.26279	0.3622:0.0:0.6378:0.0	.	225	Q8IUH8	IMP5_HUMAN	D	225	ENSP00000332488:G225D	ENSP00000332488:G225D	G	+	2	0	AC217771.1	41278726	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.316000	0.19469	0.378000	0.24764	-0.136000	0.14681	GGT		0.652	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1		NM_175882		9	12	0	0	0	0.004482	0	9	12		
MAPT	4137	broad.mit.edu	37	17	44067379	44067379	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:44067379A>G	ENST00000571987.1	+	7	1318	c.1318A>G	c.(1318-1320)Aaa>Gaa	p.K440E	MAPT_ENST00000415613.2_Missense_Mutation_p.K440E|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.K440E|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.K440E|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000340799.5_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	440					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	TTCCTCTCCTAAATACGTCTC	0.537																																						uc002ijr.3		NaN																	0				pancreas(1)	1						c.(1318-1320)AAA>GAA		microtubule-associated protein tau isoform 1							163.0	164.0	164.0					17																	44067379		2203	4300	6503	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44067379A>G	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1318A>G	17.37:g.44067379A>G	ENSP00000458742:p.Lys440Glu					MAPT_uc010dau.2_Missense_Mutation_p.K440E|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	p.K440E	NM_016835	NP_058519	P10636	TAU_HUMAN			8	1638	+		Melanoma(429;0.216)	440					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.1318A>G	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.036985	0.75617	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.31247	1.5;1.5;1.5	4.96	4.96	0.65561	.	0.000000	0.44688	D	0.000430	T	0.44286	0.1286	L	0.56769	1.78	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.98	T	0.40232	-0.9574	10	0.07030	T	0.85	-11.5081	10.9405	0.47270	1.0:0.0:0.0:0.0	.	440;440	P10636-9;P10636	.;TAU_HUMAN	E	440	ENSP00000340820:K440E;ENSP00000262410:K440E;ENSP00000410838:K440E	ENSP00000262410:K440E	K	+	1	0	MAPT	41423216	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.707000	0.68370	2.084000	0.62774	0.402000	0.26972	AAA		0.537	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1		NM_016835		107	117	0	0	0	0.00361	0	107	117		
KPNB1	3837	broad.mit.edu	37	17	45752045	45752045	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:45752045C>G	ENST00000290158.4	+	15	2216	c.1809C>G	c.(1807-1809)atC>atG	p.I603M	KPNB1_ENST00000540627.1_Missense_Mutation_p.I458M|KPNB1_ENST00000537679.1_Missense_Mutation_p.I387M|KPNB1_ENST00000535458.2_Missense_Mutation_p.I458M	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	603					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CTTTGCAGATCTCTGATGTGG	0.463																																						uc002ilt.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1807-1809)ATC>ATG		karyopherin beta 1							185.0	169.0	174.0					17																	45752045		2203	4300	6503	SO:0001583	missense	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45752045C>G	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.1809C>G	17.37:g.45752045C>G	ENSP00000290158:p.Ile603Met					KPNB1_uc010wkw.1_Missense_Mutation_p.I458M|KPNB1_uc010wkx.1_Missense_Mutation_p.I387M	p.I603M	NM_002265	NP_002256	Q14974	IMB1_HUMAN			15	2145	+			603			HEAT 7.		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.1809C>G	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547426	0.27652	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.13	-0.532	0.11890	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72700	0.3493	M	0.73372	2.23	0.34769	D	0.733515	D;D	0.76494	0.996;0.999	D;D	0.75484	0.986;0.924	T	0.71708	-0.4511	9	0.31617	T	0.26	-0.6077	5.0458	0.14483	0.3499:0.4493:0.0:0.2007	.	387;603	F5H4R7;Q14974	.;IMB1_HUMAN	M	458;603;458;387	ENSP00000438253:I458M;ENSP00000290158:I603M;ENSP00000438964:I458M;ENSP00000445006:I387M	ENSP00000290158:I603M	I	+	3	3	KPNB1	43107044	0.994000	0.37717	0.998000	0.56505	0.990000	0.78478	0.452000	0.21795	0.013000	0.14918	0.561000	0.74099	ATC		0.463	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2		NM_002265		13	200	0	0	0	0.004007	0	13	200		
LPO	4025	broad.mit.edu	37	17	56327830	56327830	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:56327830G>A	ENST00000262290.4	+	7	944	c.628G>A	c.(628-630)Gac>Aac	p.D210N	LPO_ENST00000582328.1_Missense_Mutation_p.D127N|LPO_ENST00000543544.1_Missense_Mutation_p.D151N|LPO_ENST00000421678.2_Missense_Mutation_p.D127N	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	210					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.D210H(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGGTGTTCTGGACCAAAACAG	0.527																																						uc002ivt.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)|breast(1)	2						c.(628-630)GAC>AAC		lactoperoxidase isoform 1 preproprotein							125.0	99.0	108.0					17																	56327830		2203	4300	6503	SO:0001583	missense	4025				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56327830G>A	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.628G>A	17.37:g.56327830G>A	ENSP00000262290:p.Asp210Asn					LPO_uc010dco.2_Missense_Mutation_p.D210N|LPO_uc010wnr.1_Missense_Mutation_p.D127N|LPO_uc010wns.1_Missense_Mutation_p.D151N|LPO_uc010dcp.2_Missense_Mutation_p.D127N|LPO_uc010dcq.2_5'UTR|LPO_uc010dcr.2_5'Flank	p.D210N	NM_006151	NP_006142	P22079	PERL_HUMAN			7	944	+			210					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.628G>A	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107762	0.77096	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544	T;T;T	0.73681	-0.77;-0.77;-0.77	5.93	5.93	0.95920	.	0.047726	0.85682	D	0.000000	D	0.87144	0.6104	M	0.78344	2.41	0.58432	D	0.99999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	D	0.87012	0.2123	10	0.59425	D	0.04	.	19.3291	0.94278	0.0:0.0:1.0:0.0	.	127;127;151;210	B4DUH9;E7EMJ3;B4E1M1;P22079	.;.;.;PERL_HUMAN	N	210;127;151	ENSP00000262290:D210N;ENSP00000400245:D127N;ENSP00000445344:D151N	ENSP00000262290:D210N	D	+	1	0	LPO	53682829	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	8.026000	0.88783	2.814000	0.96858	0.655000	0.94253	GAC		0.527	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1				24	47	0	0	0	0.005443	0	24	47		
MRC2	9902	broad.mit.edu	37	17	60755974	60755974	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:60755974A>T	ENST00000303375.5	+	13	2564	c.2162A>T	c.(2161-2163)cAc>cTc	p.H721L	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	721	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GAGGAGGAGCACTTTGTGGCC	0.647																																						uc002jad.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2161-2163)CAC>CTC		mannose receptor, C type 2							41.0	41.0	41.0					17																	60755974		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60755974A>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2162A>T	17.37:g.60755974A>T	ENSP00000307513:p.His721Leu					MRC2_uc010ddq.1_RNA|MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank	p.H721L	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			13	2564	+			721			Extracellular (Potential).|C-type lectin 4.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.2162A>T	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.747932	0.89663	.	.	ENSG00000011028	ENST00000303375	T	0.18174	2.23	5.08	5.08	0.68730	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.050742	0.85682	D	0.000000	T	0.23727	0.0574	L	0.28274	0.84	0.80722	D	1	D	0.54601	0.967	P	0.57911	0.829	T	0.01930	-1.1245	10	0.28530	T	0.3	-23.4999	15.0235	0.71650	1.0:0.0:0.0:0.0	.	721	Q9UBG0	MRC2_HUMAN	L	721	ENSP00000307513:H721L	ENSP00000307513:H721L	H	+	2	0	MRC2	58109706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.503000	0.73699	2.136000	0.66102	0.459000	0.35465	CAC		0.647	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1				10	38	0	0	0	0.010729	0	10	38		
CEP112	201134	broad.mit.edu	37	17	63848079	63848079	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:63848079T>G	ENST00000392769.2	-	21	2455	c.2237A>C	c.(2236-2238)cAg>cCg	p.Q746P	CEP112_ENST00000537949.1_Missense_Mutation_p.Q704P|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000541355.1_Missense_Mutation_p.Q381P|CEP112_ENST00000535342.2_Missense_Mutation_p.Q746P	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	746					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TACCAGCTGCTGTTTCCGCTG	0.433																																						uc002jfl.2		NaN																	0					0						c.(2236-2238)CAG>CCG		coiled-coil domain containing 46 isoform a							113.0	103.0	106.0					17																	63848079		2203	4300	6503	SO:0001583	missense	201134					centrosome		g.chr17:63848079T>G	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2237A>C	17.37:g.63848079T>G	ENSP00000376522:p.Gln746Pro					CCDC46_uc010deo.2_Missense_Mutation_p.Q488P|CCDC46_uc002jfm.2_Missense_Mutation_p.Q746P|CCDC46_uc010dep.2_Missense_Mutation_p.Q704P	p.Q746P	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		21	2456	-			746			Potential.		Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.2237A>C	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.390379	0.62066	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.18	5.18	0.71444	.	0.165341	0.45126	D	0.000397	T	0.63070	0.2480	L	0.59436	1.845	0.44719	D	0.997711	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.63793	0.918;0.918;0.918	T	0.66799	-0.5832	10	0.72032	D	0.01	-14.0005	15.0347	0.71734	0.0:0.0:0.0:1.0	.	704;704;746	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	P	746;746;381;704	ENSP00000442784:Q746P;ENSP00000376522:Q746P;ENSP00000443711:Q381P;ENSP00000440775:Q704P	ENSP00000376522:Q746P	Q	-	2	0	CEP112	61278541	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.453000	0.73488	1.955000	0.56771	0.528000	0.53228	CAG		0.433	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1		NM_145036		30	15	0	0	0	0.005524	0	30	15		
KCNJ2	3759	broad.mit.edu	37	17	68171368	68171368	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:68171368A>G	ENST00000243457.3	+	2	571	c.188A>G	c.(187-189)gAg>gGg	p.E63G	KCNJ2_ENST00000535240.1_Missense_Mutation_p.E63G	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	63					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AATGTGGGTGAGAAGGGGCAA	0.527																																						uc010dfg.2		NaN																	0					0						c.(187-189)GAG>GGG		potassium inwardly-rectifying channel J2							198.0	146.0	164.0					17																	68171368		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171368A>G	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.188A>G	17.37:g.68171368A>G	ENSP00000243457:p.Glu63Gly					KCNJ2_uc002jir.2_Missense_Mutation_p.E63G	p.E63G	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	589	+	Breast(10;1.64e-08)		63			Cytoplasmic (By similarity).		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.188A>G	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.981514	0.34942	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.94046	-3.34;-3.34	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.045914	0.85682	D	0.000000	D	0.89594	0.6760	L	0.37850	1.14	0.58432	D	0.999999	B	0.16396	0.017	B	0.20184	0.028	D	0.85555	0.1224	9	.	.	.	.	15.8929	0.79315	1.0:0.0:0.0:0.0	.	63	P63252	IRK2_HUMAN	G	63	ENSP00000441848:E63G;ENSP00000243457:E63G	.	E	+	2	0	KCNJ2	65682963	1.000000	0.71417	0.995000	0.50966	0.829000	0.46940	9.339000	0.96797	2.151000	0.67156	0.454000	0.30748	GAG		0.527	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1		NM_000891		6	75	0	0	0	0.004482	0	6	75		
ITGB4	3691	broad.mit.edu	37	17	73746222	73746222	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:73746222T>A	ENST00000200181.3	+	28	3534	c.3347T>A	c.(3346-3348)aTg>aAg	p.M1116K	ITGB4_ENST00000579662.1_Missense_Mutation_p.M1116K|ITGB4_ENST00000450894.3_Missense_Mutation_p.M1116K|ITGB4_ENST00000339591.3_Missense_Mutation_p.M1116K|ITGB4_ENST00000449880.2_Missense_Mutation_p.M1116K	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1116					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACGAGTCAGATGTTGTCATCA	0.632											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jpg.2		NaN																	0				lung(4)	4						c.(3346-3348)ATG>AAG		integrin beta 4 isoform 1 precursor							66.0	67.0	67.0					17																	73746222		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73746222T>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3347T>A	17.37:g.73746222T>A	ENSP00000200181:p.Met1116Lys		OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1147	ITGB4_uc002jph.2_Missense_Mutation_p.M1116K|ITGB4_uc002jpi.3_Missense_Mutation_p.M1116K|ITGB4_uc002jpj.2_Missense_Mutation_p.M1116K	p.M1116K	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		28	3534	+	all_cancers(13;1.5e-07)		1116			Cytoplasmic (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.3347T>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	T	9.596	1.127354	0.20959	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.74209	-0.82;-0.77;-0.77	5.04	0.55	0.17219	Fibronectin, type III (1);	0.556823	0.17429	N	0.174523	T	0.53674	0.1811	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.42783	-0.9431	10	0.54805	T	0.06	.	4.7917	0.13252	0.148:0.6014:0.0:0.2507	.	1116;1116;1116	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	K	1116	ENSP00000200181:M1116K;ENSP00000344079:M1116K;ENSP00000400217:M1116K	ENSP00000200181:M1116K	M	+	2	0	ITGB4	71257817	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.040000	0.12104	-0.019000	0.14055	-0.231000	0.12243	ATG		0.632	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1				18	78	0	0	0	0.010504	0	18	78		
DNAH17	8632	broad.mit.edu	37	17	76554223	76554223	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:76554223G>A	ENST00000585328.1	-	14	2269	c.2145C>T	c.(2143-2145)ggC>ggT	p.G715G	DNAH17_ENST00000389840.5_Silent_p.G715G	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	715	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTCCAGGTTGCCCACAAACT	0.433																																						uc002jvv.1		NaN																	0				ovary(6)|breast(2)|skin(1)	9						c.(1249-1251)GGC>GGT		RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;							108.0	86.0	94.0					17																	76554223		2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76554223G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2145C>T	17.37:g.76554223G>A							p.G417G					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		10	1357	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.1251C>T																																																																																					0.433	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628		13	11	0	0	0	0.008871	0	13	11		
CARD14	79092	broad.mit.edu	37	17	78179329	78179329	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:78179329G>C	ENST00000573882.1	+	21	3105		c.e21-1		RP11-334C17.5_ENST00000573935.1_RNA|RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000344227.2_Splice_Site|RP11-334C17.5_ENST00000572730.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14						activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTCACCTGTAGAGTACTTGAG	0.632																																						uc002jxw.1		NaN																	0				ovary(4)|skin(1)	5						c.e19-1		caspase recruitment domain protein 14 isoform 1							58.0	47.0	51.0					17																	78179329		2203	4297	6500	SO:0001630	splice_region_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78179329G>C	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2570-1G>C	17.37:g.78179329G>C						CARD14_uc002jxt.1_Splice_Site	p.E857_splice	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		19	2765	+	all_neural(118;0.0952)							B8QQJ3|Q9BVB5	Splice_Site	SNP	ENST00000573882.1	37	c.2570_splice	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.459943	0.26248	.	.	ENSG00000141527	ENST00000344227	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.099	0.53772	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CARD14	75793924	1.000000	0.71417	0.955000	0.39395	0.458000	0.32498	5.261000	0.65496	1.919000	0.55581	0.591000	0.81541	.		0.632	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			Intron	3	8	0	0	0	0.009096	0	3	8		
PCYT2	5833	broad.mit.edu	37	17	79866776	79866776	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:79866776T>G	ENST00000538936.2	-	3	424	c.316A>C	c.(316-318)Aac>Cac	p.N106H	PCYT2_ENST00000571105.1_Missense_Mutation_p.N106H|PCYT2_ENST00000570391.1_Missense_Mutation_p.N74H|PCYT2_ENST00000570388.1_Missense_Mutation_p.N28H|PCYT2_ENST00000538721.2_Missense_Mutation_p.N106H|PCYT2_ENST00000331285.3_Missense_Mutation_p.N28H	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	106					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	AAGTCACAGTTGTATTTGTCC	0.587																																						uc002kcf.1		NaN																	0					0						c.(316-318)AAC>CAC		phosphate cytidylyltransferase 2, ethanolamine							95.0	98.0	97.0					17																	79866776		2203	4296	6499	SO:0001583	missense	5833				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity	g.chr17:79866776T>G	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.316A>C	17.37:g.79866776T>G	ENSP00000439245:p.Asn106His					PCYT2_uc010wva.1_Missense_Mutation_p.N74H|PCYT2_uc010wvb.1_Missense_Mutation_p.N74H|PCYT2_uc002kce.1_Missense_Mutation_p.N28H|PCYT2_uc002kcg.1_Missense_Mutation_p.N117H|PCYT2_uc002kch.1_Missense_Mutation_p.N106H|PCYT2_uc002kci.1_Missense_Mutation_p.N47H|PCYT2_uc010dii.1_Missense_Mutation_p.N106H|PCYT2_uc010wvc.1_Missense_Mutation_p.N28H	p.N106H	NM_002861	NP_002852	Q99447	PCY2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		3	379	-	all_neural(118;0.0878)|Ovarian(332;0.12)		106			Catalytic 1 (Potential).		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	ENST00000538936.2	37	c.316A>C	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.012299	0.54468	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	D;D	0.96334	-3.98;-3.98	4.62	2.43	0.29744	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.404529	0.30890	N	0.008680	D	0.96078	0.8722	L	0.55834	1.745	0.47659	D	0.999489	B;B;B;P;P	0.50272	0.418;0.009;0.128;0.557;0.933	P;B;B;P;P	0.58577	0.759;0.099;0.197;0.548;0.841	D	0.94035	0.7304	10	0.52906	T	0.07	-17.9118	8.5735	0.33583	0.0:0.1574:0.0:0.8426	.	74;74;106;28;106	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	H	106;106;28	ENSP00000442050:N106H;ENSP00000439245:N106H	ENSP00000331719:N28H	N	-	1	0	PCYT2	77460068	1.000000	0.71417	0.985000	0.45067	0.889000	0.51656	3.657000	0.54474	0.306000	0.22856	0.533000	0.62120	AAC		0.587	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1		NM_002861		20	44	0	0	0	0.00632	0	20	44		
TBCD	6904	broad.mit.edu	37	17	80772748	80772748	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:80772748G>T	ENST00000355528.4	+	13	1386	c.1256G>T	c.(1255-1257)gGa>gTa	p.G419V	TBCD_ENST00000397466.2_Missense_Mutation_p.G33V|TBCD_ENST00000539345.2_Missense_Mutation_p.G419V	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	419					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGGCATGGGGGATGTCTGGCG	0.602																																						uc002kfz.2		NaN																	0					0						c.(1255-1257)GGA>GTA		beta-tubulin cofactor D							68.0	74.0	72.0					17																	80772748		2159	4263	6422	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80772748G>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1256G>T	17.37:g.80772748G>T	ENSP00000347719:p.Gly419Val					TBCD_uc002kfx.1_Missense_Mutation_p.G402V|TBCD_uc002kfy.1_Missense_Mutation_p.G419V	p.G419V	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		13	1386	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	419					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.1256G>T	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400460	0.83120	.	.	ENSG00000141556	ENST00000355528;ENST00000269368;ENST00000334614;ENST00000397466;ENST00000536182	T;T	0.65549	-0.16;-0.16	5.34	5.34	0.76211	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.80053	0.4553	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.969	D;D;P	0.87578	0.997;0.998;0.891	T	0.81743	-0.0793	9	.	.	.	.	14.5168	0.67824	0.0:0.0:1.0:0.0	.	419;419;419	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	V	419;402;170;33;419	ENSP00000347719:G419V;ENSP00000380608:G33V	.	G	+	2	0	TBCD	78366037	1.000000	0.71417	0.758000	0.31321	0.832000	0.47134	8.783000	0.91813	2.504000	0.84457	0.585000	0.79938	GGA		0.602	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1		NM_005993		28	16	1	0	5.04308e-16	0.00623	5.62595e-16	28	16		
SMCHD1	23347	broad.mit.edu	37	18	2688390	2688390	+	Splice_Site	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:2688390A>G	ENST00000320876.6	+	6	976		c.e6-1		RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Splice_Site	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1						chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTTTTATTTTAGTGATCATTC	0.358																																						uc002klm.3		NaN																	0					0						c.e6-2		structural maintenance of chromosomes flexible							84.0	82.0	83.0					18																	2688390		1907	4121	6028	SO:0001630	splice_region_variant	23347				chromosome organization		ATP binding	g.chr18:2688390A>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.639-1A>G	18.37:g.2688390A>G							p.S213_splice	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			6	828	+								O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Splice_Site	SNP	ENST00000320876.6	37	c.639_splice	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.654102	0.29425	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1383	0.72586	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMCHD1	2678390	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	8.098000	0.89540	2.024000	0.59613	0.533000	0.62120	.		0.358	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			Intron	30	32	0	0	0	0.005524	0	30	32		
MTCL1	23255	broad.mit.edu	37	18	8784103	8784103	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:8784103G>T	ENST00000306329.11	+	5	2073	c.2073G>T	c.(2071-2073)ggG>ggT	p.G691G	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000359865.3_Silent_p.G331G|SOGA2_ENST00000517570.1_Silent_p.G331G|SOGA2_ENST00000400050.3_Silent_p.G331G																							CCGGGGGTGGGGCCCCCCTGC	0.642																																						uc002knr.2		NaN																	0					0						c.(991-993)GGG>GGT		hypothetical protein LOC23255							34.0	43.0	40.0					18																	8784103		2202	4292	6494	SO:0001819	synonymous_variant	23255							g.chr18:8784103G>T																												ENST00000306329.11:c.2073G>T	18.37:g.8784103G>T						KIAA0802_uc002knq.2_Silent_p.G331G|KIAA0802_uc010dkw.1_Silent_p.G169G	p.G331G	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			6	1135	+			682			Potential.			Silent	SNP	ENST00000306329.11	37	c.993G>T																																																																																					0.642	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1				36	31	1	0	3.43241e-23	0.009718	3.93458e-23	36	31		
POTEC	388468	broad.mit.edu	37	18	14542642	14542642	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:14542642C>G	ENST00000358970.5	-	1	503	c.504G>C	c.(502-504)aaG>aaC	p.K168N	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	168										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCTTGTCCCTCTTGTTCATGT	0.597																																						uc010dln.2		NaN																	0				skin(3)	3						c.(502-504)AAG>AAC		ANKRD26-like family B, member 2							284.0	265.0	271.0					18																	14542642		692	1591	2283	SO:0001583	missense	388468							g.chr18:14542642C>G	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.504G>C	18.37:g.14542642C>G	ENSP00000351856:p.Lys168Asn					POTEC_uc010xaj.1_RNA	p.K168N	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	958	-			168			ANK 1.			Missense_Mutation	SNP	ENST00000358970.5	37	c.504G>C	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	8.450	0.852936	0.17106	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.53857	0.6	1.44	-2.86	0.05717	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.39009	0.1062	L	0.28400	0.85	0.09310	N	1	P	0.45283	0.855	P	0.46110	0.504	T	0.29336	-1.0015	9	0.56958	D	0.05	.	4.043	0.09760	0.1923:0.4796:0.3282:0.0	.	168	B2RU33	POTEC_HUMAN	N	168	ENSP00000351856:K168N	ENSP00000351856:K168N	K	-	3	2	POTEC	14532642	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.554000	0.02172	-0.870000	0.04047	0.197000	0.17608	AAG		0.597	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1		XM_496269		102	114	0	0	0	0.00361	0	102	114		
SS18	6760	broad.mit.edu	37	18	23637560	23637560	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:23637560C>G	ENST00000415083.2	-	4	433	c.378G>C	c.(376-378)caG>caC	p.Q126H	SS18_ENST00000539849.1_Missense_Mutation_p.Q44H|SS18_ENST00000269137.7_Missense_Mutation_p.Q126H|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000545952.1_Missense_Mutation_p.Q74H|SS18_ENST00000542743.1_Missense_Mutation_p.Q74H|SS18_ENST00000542420.2_Missense_Mutation_p.Q103H	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	126	Transcriptional activation.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TACCAGGCATCTGGCCGTTCA	0.522			T	"""SSX1,  SSX2"""	synovial sarcoma																																	uc002kvm.2		NaN		Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	SSX1| SSX2		synovial sarcoma	SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	0				soft_tissue(1883)|ovary(1)	1884						c.(376-378)CAG>CAC		synovial sarcoma translocation, chromosome 18							82.0	81.0	81.0					18																	23637560		2203	4300	6503	SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23637560C>G	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.378G>C	18.37:g.23637560C>G	ENSP00000414516:p.Gln126His					SS18_uc002kvn.2_Missense_Mutation_p.Q126H|SS18_uc010xbf.1_Missense_Mutation_p.Q44H|SS18_uc010xbg.1_Missense_Mutation_p.Q74H|SS18_uc010xbh.1_Missense_Mutation_p.Q74H|SS18_uc010xbi.1_Missense_Mutation_p.Q103H|SS18_uc010dlz.1_Missense_Mutation_p.Q74H	p.Q126H	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN			4	456	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		126			Transcriptional activation.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.378G>C	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380659	0.42207	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952	T;T;T;T;T	0.35048	1.33;1.33;1.45;1.44;1.45	5.32	5.32	0.75619	.	0.108683	0.64402	D	0.000003	T	0.54271	0.1848	L	0.44542	1.39	0.80722	D	1	D;D;P	0.61697	0.99;0.99;0.886	D;D;B	0.72982	0.969;0.979;0.338	T	0.51505	-0.8697	10	0.54805	T	0.06	-2.8673	19.1982	0.93698	0.0:1.0:0.0:0.0	.	74;126;126	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	H	129;126;126;103;74;44;74	ENSP00000269137:Q126H;ENSP00000438066:Q103H;ENSP00000444551:Q74H;ENSP00000444647:Q44H;ENSP00000443097:Q74H	ENSP00000269137:Q126H	Q	-	3	2	SS18	21891558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.304000	0.78882	2.773000	0.95371	0.655000	0.94253	CAG		0.522	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1				34	46	0	0	0	0.011902	0	34	46		
SS18	6760	broad.mit.edu	37	18	23637569	23637569	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:23637569C>T	ENST00000415083.2	-	4	424	c.369G>A	c.(367-369)atG>atA	p.M123I	SS18_ENST00000539849.1_Missense_Mutation_p.M41I|SS18_ENST00000269137.7_Missense_Mutation_p.M123I|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000545952.1_Missense_Mutation_p.M71I|SS18_ENST00000542743.1_Missense_Mutation_p.M71I|SS18_ENST00000542420.2_Missense_Mutation_p.M100I	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	123	Transcriptional activation.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TCTGGCCGTTCATCTGGTTCT	0.522			T	"""SSX1,  SSX2"""	synovial sarcoma																																	uc002kvm.2		NaN		Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	SSX1| SSX2		synovial sarcoma	SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	0				soft_tissue(1883)|ovary(1)	1884						c.(367-369)ATG>ATA		synovial sarcoma translocation, chromosome 18							91.0	89.0	90.0					18																	23637569		2203	4300	6503	SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23637569C>T	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.369G>A	18.37:g.23637569C>T	ENSP00000414516:p.Met123Ile					SS18_uc002kvn.2_Missense_Mutation_p.M123I|SS18_uc010xbf.1_Missense_Mutation_p.M41I|SS18_uc010xbg.1_Missense_Mutation_p.M71I|SS18_uc010xbh.1_Missense_Mutation_p.M71I|SS18_uc010xbi.1_Missense_Mutation_p.M100I|SS18_uc010dlz.1_Missense_Mutation_p.M71I	p.M123I	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN			4	447	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		123			Transcriptional activation.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.369G>A	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579455	0.46006	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952	T;T;T;T;T	0.30448	1.59;1.53;1.62;1.61;1.62	5.32	5.32	0.75619	.	0.034471	0.85682	D	0.000000	T	0.22589	0.0545	N	0.24115	0.695	0.80722	D	1	P;P;B	0.38504	0.634;0.634;0.023	B;B;B	0.35510	0.145;0.204;0.004	T	0.03034	-1.1080	10	0.18276	T	0.48	-3.0869	19.1982	0.93698	0.0:1.0:0.0:0.0	.	71;123;123	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	I	126;123;123;100;71;41;71	ENSP00000269137:M123I;ENSP00000438066:M100I;ENSP00000444551:M71I;ENSP00000444647:M41I;ENSP00000443097:M71I	ENSP00000269137:M123I	M	-	3	0	SS18	21891567	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.304000	0.78882	2.773000	0.95371	0.655000	0.94253	ATG		0.522	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1				39	49	0	0	0	0.00361	0	39	49		
DSG1	1828	broad.mit.edu	37	18	28926104	28926104	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:28926104G>C	ENST00000257192.4	+	14	2255	c.2043G>C	c.(2041-2043)atG>atC	p.M681I	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.M40I|RNU6-167P_ENST00000384292.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	681					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAAATTCTATGAGGGAATGTA	0.418																																						uc002kwp.2		NaN																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(2041-2043)ATG>ATC		desmoglein 1 preproprotein							102.0	104.0	103.0					18																	28926104		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28926104G>C	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2043G>C	18.37:g.28926104G>C	ENSP00000257192:p.Met681Ile					DSG1_uc010xbp.1_Missense_Mutation_p.M40I	p.M681I	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		14	2255	+			681			Cytoplasmic (Potential).		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.2043G>C	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125335	0.37533	.	.	ENSG00000134760	ENST00000257192	T	0.56444	0.46	6.06	6.06	0.98353	Cadherin, cytoplasmic domain (1);	0.061477	0.64402	D	0.000002	T	0.36880	0.0983	N	0.17082	0.46	0.34917	D	0.748094	B	0.26041	0.14	B	0.27380	0.079	T	0.46721	-0.9171	10	0.41790	T	0.15	.	10.7957	0.46459	0.0887:0.0:0.9113:0.0	.	681	Q02413	DSG1_HUMAN	I	681	ENSP00000257192:M681I	ENSP00000257192:M681I	M	+	3	0	DSG1	27180102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.089000	0.50183	2.871000	0.98454	0.655000	0.94253	ATG		0.418	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1		NM_001942		40	44	0	0	0	0.00361	0	40	44		
TPGS2	25941	broad.mit.edu	37	18	34378506	34378506	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:34378506G>C	ENST00000334295.4	-	6	990	c.563C>G	c.(562-564)aCc>aGc	p.T188S	TPGS2_ENST00000589049.1_Missense_Mutation_p.T188S|TPGS2_ENST00000593035.1_Missense_Mutation_p.T153S|TPGS2_ENST00000590842.1_Missense_Mutation_p.T188S|TPGS2_ENST00000587129.1_Missense_Mutation_p.T188S|TPGS2_ENST00000590652.1_5'UTR|TPGS2_ENST00000383056.3_Missense_Mutation_p.T145S	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	188						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGCAGTAAAGGTGTCTGTGAG	0.493																																						uc002kzw.1		NaN																	0				skin(1)	1						c.(562-564)ACC>AGC		tubulin polyglutamylase complex subunit 2							160.0	153.0	155.0					18																	34378506		2203	4300	6503	SO:0001583	missense	25941					cytoplasm|microtubule		g.chr18:34378506G>C	BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779			24561	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 10"""	C18orf10		12477932	Standard	NM_015476		Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000334295.4:c.563C>G	18.37:g.34378506G>C	ENSP00000335144:p.Thr188Ser					C18orf10_uc002kzv.1_Missense_Mutation_p.T188S|C18orf10_uc010xci.1_Missense_Mutation_p.T153S|C18orf10_uc002kzx.1_Missense_Mutation_p.T145S|C18orf10_uc002kzy.3_Missense_Mutation_p.T188S	p.T188S	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN			6	991	-			188					B4DIX2|K7EIJ9|Q4KN59|Q8WTU3|Q96BT9|Q9Y435	Missense_Mutation	SNP	ENST00000334295.4	37	c.563C>G	CCDS32817.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436033	0.25813	.	.	ENSG00000134779	ENST00000334295;ENST00000383056	T;T	0.45276	2.06;0.9	6.17	5.28	0.74379	.	0.239187	0.49305	N	0.000158	T	0.25791	0.0628	N	0.16567	0.415	0.39500	D	0.96818	B;B;B;B	0.21520	0.026;0.057;0.009;0.046	B;B;B;B	0.23419	0.019;0.046;0.028;0.032	T	0.10064	-1.0646	10	0.13470	T	0.59	-18.7944	11.7907	0.52068	0.0:0.2382:0.6365:0.1253	.	153;188;145;188	B4DIX2;Q68CL5-3;Q68CL5-1;Q68CL5	.;.;.;TPGS2_HUMAN	S	188;145	ENSP00000335144:T188S;ENSP00000372530:T145S	ENSP00000335144:T188S	T	-	2	0	C18orf10	32632504	1.000000	0.71417	0.983000	0.44433	0.951000	0.60555	5.945000	0.70226	2.941000	0.99782	0.655000	0.94253	ACC		0.493	TPGS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440410.2		NM_015476		62	62	0	0	0	0.00361	0	62	62		
RNF165	494470	broad.mit.edu	37	18	44035973	44035973	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:44035973G>A	ENST00000269439.7	+	7	904	c.853G>A	c.(853-855)Ggg>Agg	p.G285R	RNF165_ENST00000543885.1_Missense_Mutation_p.G93R	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	285							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GAAGGATGAGGGGGAGGAGTC	0.507																																						uc002lcb.1		NaN																	0					0						c.(853-855)GGG>AGG		ring finger protein 165							135.0	105.0	115.0					18																	44035973		2203	4300	6503	SO:0001583	missense	494470						zinc ion binding	g.chr18:44035973G>A	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"""RING-type (C3HC4) zinc fingers"""	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.853G>A	18.37:g.44035973G>A	ENSP00000269439:p.Gly285Arg					RNF165_uc002lby.1_Missense_Mutation_p.G218R|RNF165_uc010dnn.1_Missense_Mutation_p.G81R	p.G285R	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	7	904	+			285					B3KVD1	Missense_Mutation	SNP	ENST00000269439.7	37	c.853G>A	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846126	0.71603	.	.	ENSG00000141622	ENST00000269439;ENST00000543885	T;T	0.25085	1.95;1.82	4.8	4.8	0.61643	.	0.000000	0.49305	D	0.000151	T	0.21062	0.0507	L	0.28054	0.825	0.53005	D	0.999968	B	0.15141	0.012	B	0.19148	0.024	T	0.03202	-1.1061	10	0.30854	T	0.27	.	17.459	0.87615	0.0:0.0:1.0:0.0	.	285	Q6ZSG1	RN165_HUMAN	R	285;93	ENSP00000269439:G285R;ENSP00000444285:G93R	ENSP00000269439:G285R	G	+	1	0	RNF165	42289971	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.637000	0.83313	2.218000	0.71995	0.305000	0.20034	GGG		0.507	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1		NM_152470		17	20	0	0	0	0.00278	0	17	20		
SERPINB7	8710	broad.mit.edu	37	18	61465923	61465923	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:61465923G>C	ENST00000398019.2	+	6	865	c.540G>C	c.(538-540)aaG>aaC	p.K180N	SERPINB7_ENST00000546027.1_Missense_Mutation_p.K180N|SERPINB7_ENST00000540675.1_Missense_Mutation_p.K163N|SERPINB7_ENST00000336429.2_Missense_Mutation_p.K180N	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	180					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCAAAGGCAAGTGGCAATCAG	0.393																																						uc002ljl.2		NaN																	0				lung(2)|central_nervous_system(1)	3						c.(538-540)AAG>AAC		serine (or cysteine) proteinase inhibitor, clade							170.0	146.0	154.0					18																	61465923		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61465923G>C	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.540G>C	18.37:g.61465923G>C	ENSP00000381101:p.Lys180Asn					SERPINB7_uc002ljm.2_Missense_Mutation_p.K180N|SERPINB7_uc010xet.1_Missense_Mutation_p.K163N|SERPINB7_uc010dqg.2_Missense_Mutation_p.K180N	p.K180N	NM_001040147	NP_001035237	O75635	SPB7_HUMAN			6	636	+		Esophageal squamous(42;0.129)	180					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.540G>C	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567282	0.65651	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.68	2.92	0.33932	Serpin domain (3);	0.266531	0.32785	N	0.005649	T	0.75221	0.3820	L	0.48218	1.51	0.34535	D	0.709602	B;B	0.25850	0.112;0.136	B;B	0.21151	0.019;0.033	T	0.67538	-0.5645	10	0.15499	T	0.54	.	6.5089	0.22210	0.216:0.2094:0.5746:0.0	.	163;180	F5GZC0;O75635	.;SPB7_HUMAN	N	180;180;163;180	ENSP00000337212:K180N;ENSP00000381101:K180N;ENSP00000444572:K163N;ENSP00000444861:K180N	ENSP00000337212:K180N	K	+	3	2	SERPINB7	59616903	0.000000	0.05858	0.998000	0.56505	0.915000	0.54546	-0.945000	0.03909	0.420000	0.25954	0.650000	0.86243	AAG		0.393	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1		NM_003784		37	114	0	0	0	0.010771	0	37	114		
RTTN	25914	broad.mit.edu	37	18	67788894	67788894	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:67788894C>T	ENST00000255674.6	-	26	3712	c.3426G>A	c.(3424-3426)ctG>ctA	p.L1142L	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Silent_p.L1142L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1142					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TATCTATTAGCAGTTTCTCAT	0.308																																						uc002lkp.2		NaN																	0				ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(3424-3426)CTG>CTA		rotatin							29.0	27.0	28.0					18																	67788894		1763	4036	5799	SO:0001819	synonymous_variant	25914						binding	g.chr18:67788894C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3426G>A	18.37:g.67788894C>T						RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L230L	p.L1142L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			26	3494	-		Esophageal squamous(42;0.129)	1142					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.3426G>A	CCDS42443.1																																																																																				0.308	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1		NM_173630		3	1	0	0	0	0.004672	0	3	1		
TSHZ1	10194	broad.mit.edu	37	18	72999303	72999303	+	Silent	SNP	G	G	A	rs141313878	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:72999303G>A	ENST00000580243.1	+	2	2289	c.1941G>A	c.(1939-1941)acG>acA	p.T647T	TSHZ1_ENST00000322038.5_Silent_p.T602T			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	647					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGAAGGTCACGGGCAAGGTCA	0.602													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18472	0.0		0.0	False		,,,				2504	0.0					uc002lly.2		NaN																	0					0						c.(1804-1806)ACG>ACA		teashirt family zinc finger 1		G		7,4399	11.4+/-27.6	1,5,2197	91.0	76.0	81.0		1806	-5.7	1.0	18	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TSHZ1	NM_005786.4		1,6,6496	AA,AG,GG		0.0116,0.1589,0.0615		602/1033	72999303	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999303G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1941G>A	18.37:g.72999303G>A							p.T602T	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2369	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	647					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.1806G>A																																																																																					0.602	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1		NM_005786		22	18	0	0	0	0.003954	0	22	18		
ZNF236	7776	broad.mit.edu	37	18	74580691	74580691	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:74580691G>A	ENST00000253159.8	+	4	606	c.408G>A	c.(406-408)ctG>ctA	p.L136L	ZNF236_ENST00000583095.1_3'UTR|ZNF236_ENST00000320610.9_Silent_p.L138L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	136					cellular response to glucose stimulus (GO:0071333)|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)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGAGTCAGCTGGCCGTGCACA	0.557																																						uc002lmi.2		NaN																	0				ovary(4)	4						c.(406-408)CTG>CTA		zinc finger protein 236							122.0	133.0	129.0					18																	74580691		2067	4216	6283	SO:0001819	synonymous_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74580691G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.408G>A	18.37:g.74580691G>A						ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Silent_p.L136L	p.L136L	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	4	606	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	136			C2H2-type 4.		B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	c.408G>A	CCDS42447.1																																																																																				0.557	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1				78	72	0	0	0	0.00361	0	78	72		
MBP	4155	broad.mit.edu	37	18	74700837	74700837	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:74700837C>T	ENST00000397869.3	-	3	360	c.314G>A	c.(313-315)gGa>gAa	p.G105E	MBP_ENST00000355994.2_Missense_Mutation_p.G238E|MBP_ENST00000382582.3_Missense_Mutation_p.G131E|MBP_ENST00000354542.4_Intron|MBP_ENST00000580402.1_Missense_Mutation_p.G238E|MBP_ENST00000526111.1_Missense_Mutation_p.G83E|MBP_ENST00000397866.4_Missense_Mutation_p.G105E|MBP_ENST00000397865.5_Missense_Mutation_p.G105E|MBP_ENST00000359645.3_Missense_Mutation_p.G131E|MBP_ENST00000579129.1_Missense_Mutation_p.G238E|MBP_ENST00000528160.1_Intron|MBP_ENST00000578193.1_Missense_Mutation_p.G105E|MBP_ENST00000527041.1_Intron|MBP_ENST00000397875.3_Missense_Mutation_p.G115E			P13727	PRG2_HUMAN	myelin basic protein	0	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	TCTTACCTTTCCCTGCGACGG	0.522																																					NSCLC(17;72 1131 19392)	uc010xfd.1		NaN																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(712-714)GGA>GAA		Golli-mbp isoform 1							127.0	136.0	133.0					18																	74700837		2203	4300	6503	SO:0001583	missense	4155				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	g.chr18:74700837C>T		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.314G>A	18.37:g.74700837C>T	ENSP00000380967:p.Gly105Glu					MBP_uc002lml.2_Missense_Mutation_p.G131E|MBP_uc002lmn.2_Missense_Mutation_p.G131E|MBP_uc002lmp.2_Missense_Mutation_p.G105E|MBP_uc010xfe.1_Missense_Mutation_p.G105E|MBP_uc010dqz.2_5'Flank	p.G238E	NM_001025101	NP_001020272	P02686	MBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	6	977	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	238					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000397869.3	37	c.713G>A		.	.	.	.	.	.	.	.	.	.	C	14.61	2.586038	0.46110	.	.	ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000359645;ENST00000397869;ENST00000526111;ENST00000397868;ENST00000447114	.	.	.	4.34	4.34	0.51931	.	0.186155	0.36268	N	0.002687	T	0.63271	0.2497	L	0.47716	1.5	0.33200	D	0.552033	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0	T	0.72171	-0.4371	9	0.66056	D	0.02	-7.399	10.5179	0.44900	0.0:0.7848:0.2152:0.0	.	105;238;105;131;131	B7Z3Y6;P02686;P02686-6;P02686-4;P02686-3	.;MBP_HUMAN;.;.;.	E	131;238;115;105;105;131;105;83;105;49	.	ENSP00000348273:G238E	G	-	2	0	MBP	72829825	1.000000	0.71417	0.988000	0.46212	0.256000	0.26092	1.898000	0.39809	2.258000	0.74832	0.591000	0.81541	GGA		0.522	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1		NM_001025081		82	104	0	0	0	0.00361	0	82	104		
PRSS57	400668	broad.mit.edu	37	19	691938	691938	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:691938G>T	ENST00000329267.7	-	3	330	c.301C>A	c.(301-303)Cag>Aag	p.Q101K		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	101	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						CCAAACACCTGCTGGGTGGGC	0.672																																						uc002lpl.1		NaN																	0					0						c.(301-303)CAG>AAG		protease, serine-like 1 precursor							85.0	55.0	65.0					19																	691938		2202	4300	6502	SO:0001583	missense	400668				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:691938G>T	AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"""Serine peptidases / Serine peptidases"""	31397	protein-coding gene	gene with protein product			"""protease, serine-like 1"""	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.301C>A	19.37:g.691938G>T	ENSP00000327386:p.Gln101Lys					PRSSL1_uc010xfs.1_Missense_Mutation_p.Q100K	p.Q101K	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	332	-		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	101			Peptidase S1.		B2RNW8	Missense_Mutation	SNP	ENST00000329267.7	37	c.301C>A	CCDS12041.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720086	0.48728	.	.	ENSG00000185198	ENST00000329267	D	0.90069	-2.61	4.58	4.58	0.56647	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.38778	N	0.001564	D	0.93776	0.8010	M	0.76838	2.35	0.43242	D	0.995155	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	D	0.94532	0.7737	10	0.87932	D	0	.	14.0748	0.64882	0.0:0.0:1.0:0.0	.	100;101	B7ZMF6;Q6UWY2	.;PRS57_HUMAN	K	101	ENSP00000327386:Q101K	ENSP00000327386:Q101K	Q	-	1	0	PRSS57	642938	1.000000	0.71417	0.101000	0.21167	0.048000	0.14542	6.316000	0.72857	2.113000	0.64589	0.313000	0.20887	CAG		0.672	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452480.2		NM_214710		16	23	1	0	6.94344e-10	0.006122	7.41079e-10	16	23		
DOT1L	84444	broad.mit.edu	37	19	2216762	2216762	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:2216762G>A	ENST00000398665.3	+	20	2442	c.2406G>A	c.(2404-2406)tcG>tcA	p.S802S	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	802					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGCATTCGAGGTGAGTGC	0.652																																						uc002lvb.3		NaN																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(2404-2406)TCG>TCA		DOT1-like, histone H3 methyltransferase							22.0	26.0	25.0					19																	2216762		2001	4091	6092	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216762G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2406G>A	19.37:g.2216762G>A						DOT1L_uc002lvc.1_Silent_p.S96S|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.S96S	p.S802S	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	2442	+		Hepatocellular(1079;0.137)	802					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.2406G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	1.388	-0.581655	0.03854	.	.	ENSG00000104885	ENST00000440640	.	.	.	5.21	-10.4	0.00318	.	.	.	.	.	T	0.33323	0.0859	.	.	.	0.37594	D	0.920303	.	.	.	.	.	.	T	0.48736	-0.9009	4	.	.	.	-1.4572	2.9479	0.05852	0.0922:0.1499:0.4829:0.2749	.	.	.	.	Q	589	.	.	R	+	2	0	DOT1L	2167762	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	-4.704000	0.00196	-4.076000	0.00076	-0.768000	0.03414	CGA		0.652	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		23	96	0	0	0	0.008361	0	23	96		
CREB3L3	84699	broad.mit.edu	37	19	4168393	4168393	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:4168393A>G	ENST00000078445.2	+	6	907	c.760A>G	c.(760-762)Aag>Gag	p.K254E	CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.K252E|CREB3L3_ENST00000595923.1_Missense_Mutation_p.K253E|CREB3L3_ENST00000252587.3_Missense_Mutation_p.K194E	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	254	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AATCCGGAACAAGCAGTCGGC	0.537																																						uc002lzl.2		NaN																	0				ovary(1)|skin(1)	2						c.(760-762)AAG>GAG		cAMP responsive element binding protein 3-like							74.0	62.0	66.0					19																	4168393		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4168393A>G		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.760A>G	19.37:g.4168393A>G	ENSP00000078445:p.Lys254Glu					CREB3L3_uc002lzm.2_Missense_Mutation_p.K244E|CREB3L3_uc010xib.1_Missense_Mutation_p.K243E|CREB3L3_uc010xic.1_Intron	p.K254E	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	6	876	+			254			Basic motif.|Cytoplasmic (Potential).		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.760A>G	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495402	0.85069	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	T;T	0.57907	0.37;0.37	5.06	5.06	0.68205	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	H	0.94423	3.535	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.85468	0.1171	10	0.87932	D	0	-24.1038	13.9241	0.63952	1.0:0.0:0.0:0.0	.	252;253;254	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	E	254;254;194	ENSP00000078445:K254E;ENSP00000252587:K194E	ENSP00000078445:K254E	K	+	1	0	CREB3L3	4119393	1.000000	0.71417	0.993000	0.49108	0.662000	0.39071	8.840000	0.92125	2.028000	0.59812	0.533000	0.62120	AAG		0.537	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1		NM_032607		19	16	0	0	0	0.010504	0	19	16		
SH3GL1	6455	broad.mit.edu	37	19	4361711	4361711	+	Silent	SNP	G	G	A	rs371201004		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:4361711G>A	ENST00000269886.3	-	10	1171	c.993C>T	c.(991-993)gaC>gaT	p.D331D	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Silent_p.D267D|SH3GL1_ENST00000417295.2_Silent_p.D283D	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	331	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)		GCGTGATGACGTCGCCCTCAT	0.662			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.(991-993)GAC>GAT		SH3-domain GRB2-like 1		G	,,	0,4406		0,0,2203	113.0	83.0	93.0		849,801,993	2.8	1.0	19		93	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SH3GL1	NM_001199943.1,NM_001199944.1,NM_003025.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	283/321,267/305,331/369	4361711	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4361711G>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.993C>T	19.37:g.4361711G>A						SH3GL1_uc002mak.2_Silent_p.D267D|SH3GL1_uc010xig.1_Silent_p.D283D	p.D331D	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)	10	1099	-			331			SH3.		B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	ENST00000269886.3	37	c.993C>T	CCDS32874.1																																																																																				0.662	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1		NM_003025		6	120	0	0	0	0.008291	0	6	120		
PLIN4	729359	broad.mit.edu	37	19	4504533	4504533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:4504533G>A	ENST00000301286.3	-	6	4011	c.4012C>T	c.(4012-4014)Cag>Tag	p.Q1338*		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1338						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGATTGTGCTGTAGGCCCTCC	0.701																																						uc002mar.1		NaN																	0					0						c.(4012-4014)CAG>TAG		plasma membrane associated protein, S3-12							10.0	13.0	12.0					19																	4504533		1954	4130	6084	SO:0001587	stop_gained	729359					lipid particle|plasma membrane		g.chr19:4504533G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.4012C>T	19.37:g.4504533G>A	ENSP00000301286:p.Gln1338*					PLIN4_uc010dub.1_Nonsense_Mutation_p.Q362*	p.Q1338*	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			6	4012	-			1338					A6NEI2	Nonsense_Mutation	SNP	ENST00000301286.3	37	c.4012C>T	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	38	6.927514	0.97940	.	.	ENSG00000167676	ENST00000301286	.	.	.	4.63	3.55	0.40652	.	0.801350	0.10287	U	0.692872	.	.	.	.	.	.	0.48830	D	0.999711	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-13.4168	9.8957	0.41318	0.0:0.3364:0.6636:0.0	.	.	.	.	X	1338	.	ENSP00000301286:Q1338X	Q	-	1	0	PLIN4	4455533	0.497000	0.26067	0.996000	0.52242	0.099000	0.18886	0.716000	0.25836	2.152000	0.67230	0.456000	0.33151	CAG		0.701	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1		XM_170901		22	5	0	0	0	0.010818	0	22	5		
DENND1C	79958	broad.mit.edu	37	19	6479898	6479898	+	Missense_Mutation	SNP	C	C	A	rs370979269		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:6479898C>A	ENST00000381480.2	-	3	210	c.98G>T	c.(97-99)cGg>cTg	p.R33L	DENND1C_ENST00000543576.1_Intron|DENND1C_ENST00000591030.1_5'UTR	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	33	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AGGGAACTGCCGCAGGATGGG	0.642																																						uc002mfe.2		NaN																	0				large_intestine(1)	1						c.(97-99)CGG>CTG		DENN/MADD domain containing 1C							27.0	34.0	32.0					19																	6479898		1961	4127	6088	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6479898C>A	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.98G>T	19.37:g.6479898C>A	ENSP00000370889:p.Arg33Leu					DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Intron	p.R33L	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN			3	190	-			33			UDENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.98G>T	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	c	10.03	1.238720	0.22711	.	.	ENSG00000205744	ENST00000381480	T	0.44482	0.92	4.81	4.81	0.61882	uDENN (3);	0.293012	0.31370	N	0.007773	T	0.35508	0.0934	L	0.33189	0.99	0.80722	D	1	B	0.21309	0.054	B	0.33690	0.168	T	0.12319	-1.0552	10	0.17369	T	0.5	-10.2041	13.3943	0.60840	0.0:1.0:0.0:0.0	.	33	Q8IV53	DEN1C_HUMAN	L	33	ENSP00000370889:R33L	ENSP00000370889:R33L	R	-	2	0	DENND1C	6430898	.	.	1.000000	0.80357	0.941000	0.58515	.	.	2.216000	0.71823	0.457000	0.33378	CGG		0.642	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2		NM_024898		6	4	1	0	0.00448238	0.004482	0.00456463	6	4		
TUBB4A	10382	broad.mit.edu	37	19	6501571	6501571	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:6501571C>T	ENST00000264071.2	-	2	492	c.121G>A	c.(121-123)Gac>Aac	p.D41N	TUBB4A_ENST00000601152.1_Silent_p.V15V|TUBB4A_ENST00000598006.1_Silent_p.V26V|TUBB4A_ENST00000596926.1_Missense_Mutation_p.D41N|TUBB4A_ENST00000540257.1_Missense_Mutation_p.D41N			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	41					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										AGTTGCAGGTCACTGTCCCCA	0.572																																						uc002mfg.1		NaN																	0				ovary(2)	2						c.(121-123)GAC>AAC		tubulin, beta 4							179.0	139.0	153.0					19																	6501571		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6501571C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.121G>A	19.37:g.6501571C>T	ENSP00000264071:p.Asp41Asn					TUBB4_uc002mff.1_5'UTR	p.D41N	NM_006087	NP_006078	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	2	228	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	41					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.121G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428990	0.43122	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	T;T	0.71934	-0.61;-0.61	3.83	3.83	0.44106	.	0.000000	0.64402	U	0.000004	T	0.68035	0.2957	M	0.64404	1.975	0.53688	D	0.999979	B	0.02656	0.0	B	0.04013	0.001	T	0.70077	-0.4971	10	0.87932	D	0	.	14.4849	0.67609	0.0:1.0:0.0:0.0	.	41	P04350	TBB4A_HUMAN	N	41	ENSP00000264071:D41N;ENSP00000443590:D41N	ENSP00000264071:D41N	D	-	1	0	TUBB4	6452571	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	7.565000	0.82337	1.694000	0.51137	0.313000	0.20887	GAC		0.572	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1		NM_006087		127	36	0	0	0	0.00361	0	127	36		
ARHGEF18	23370	broad.mit.edu	37	19	7518383	7518383	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:7518383A>T	ENST00000359920.6	+	7	1575	c.1322A>T	c.(1321-1323)cAg>cTg	p.Q441L	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R399W|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.Q283L	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	441	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GACCTGACCCAGGCCTTGAAC	0.507																																						uc002mgi.2		NaN																	0				ovary(1)	1						c.(1321-1323)CAG>CTG		Rho/Rac guanine nucleotide exchange factor 18							123.0	118.0	119.0					19																	7518383		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7518383A>T	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1322A>T	19.37:g.7518383A>T	ENSP00000352995:p.Gln441Leu					ARHGEF18_uc010xjm.1_Missense_Mutation_p.Q283L|ARHGEF18_uc002mgh.2_Missense_Mutation_p.Q283L|ARHGEF18_uc002mgj.1_Missense_Mutation_p.Q84L	p.Q441L	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN			7	1575	+		Renal(5;0.0902)	441			DH.		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.1322A>T	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059956	0.76074	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.63744	-0.06;-0.06	5.44	5.44	0.79542	Dbl homology (DH) domain (5);	0.000000	0.53938	D	0.000054	T	0.76111	0.3942	M	0.73217	2.22	0.58432	D	0.999999	D;D	0.59767	0.966;0.986	P;D	0.66196	0.904;0.942	T	0.78417	-0.2212	10	0.59425	D	0.04	-25.8537	13.4586	0.61214	1.0:0.0:0.0:0.0	.	283;441	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	L	283;441	ENSP00000319200:Q283L;ENSP00000352995:Q441L	ENSP00000319200:Q283L	Q	+	2	0	ARHGEF18	7424383	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.842000	0.48230	2.077000	0.62373	0.443000	0.29094	CAG		0.507	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1		NM_015318		21	88	0	0	0	0.004656	0	21	88		
CD209	30835	broad.mit.edu	37	19	7810492	7810492	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:7810492G>A	ENST00000315599.7	-	4	682	c.660C>T	c.(658-660)acC>acT	p.T220T	CD209_ENST00000315591.8_Silent_p.T196T|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Silent_p.T220T|CD209_ENST00000601256.1_Silent_p.T196T|CD209_ENST00000593660.1_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000601951.1_Silent_p.T196T|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000204801.8_Silent_p.T176T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	220	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTTCAGCCGGGTCAGCTCCT	0.567																																						uc002mht.2		NaN																	0				skin(1)	1						c.(658-660)ACC>ACT		CD209 molecule isoform 1																																				SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810492G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.660C>T	19.37:g.7810492G>A						CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.T196T|CD209_uc002mhr.2_Silent_p.T196T|CD209_uc002mhs.2_Intron|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Silent_p.T220T|CD209_uc002mhq.2_Silent_p.T220T|CD209_uc002mhv.2_Silent_p.T196T|CD209_uc002mhx.2_Silent_p.T176T|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron	p.T220T	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			4	727	-			220			Extracellular (Probable).|6.|7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.660C>T	CCDS12186.1																																																																																				0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1		NM_021155		4	108	0	0	0	0.001168	0	4	108		
CD209	30835	broad.mit.edu	37	19	7810561	7810561	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:7810561G>A	ENST00000315599.7	-	4	613	c.591C>T	c.(589-591)acC>acT	p.T197T	CD209_ENST00000315591.8_Silent_p.T173T|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Silent_p.T197T|CD209_ENST00000601256.1_Silent_p.T173T|CD209_ENST00000593660.1_Silent_p.T173T|CD209_ENST00000602261.1_Intron|CD209_ENST00000601951.1_Silent_p.T173T|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000204801.8_Silent_p.T153T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	197	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTTCAGCCGGGTCAGCTCCT	0.567																																						uc002mht.2		NaN																	0				skin(1)	1						c.(589-591)ACC>ACT		CD209 molecule isoform 1							27.0	28.0	28.0					19																	7810561		1854	3859	5713	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810561G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.591C>T	19.37:g.7810561G>A						CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.T173T|CD209_uc002mhr.2_Silent_p.T173T|CD209_uc002mhs.2_Silent_p.T173T|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Silent_p.T197T|CD209_uc002mhq.2_Silent_p.T197T|CD209_uc002mhv.2_Silent_p.T173T|CD209_uc002mhx.2_Silent_p.T153T|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron	p.T197T	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			4	658	-			197			Extracellular (Probable).|5.|7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.591C>T	CCDS12186.1																																																																																				0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1		NM_021155		5	107	0	0	0	0.00308	0	5	107		
CD209	30835	broad.mit.edu	37	19	7810766	7810766	+	Missense_Mutation	SNP	C	C	T	rs200171403		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:7810766C>T	ENST00000315599.7	-	4	408	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000602261.1_Missense_Mutation_p.R129Q|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCTTCAGCCGGGTCAGCTC	0.567																																						uc002mht.2		NaN																	0				skin(1)	1						c.(385-387)CGG>CAG		CD209 molecule isoform 1							88.0	91.0	90.0					19																	7810766		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810766C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.386G>A	19.37:g.7810766C>T	ENSP00000315477:p.Arg129Gln					CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.R105Q|CD209_uc002mhr.2_Missense_Mutation_p.R105Q|CD209_uc002mhs.2_Missense_Mutation_p.R105Q|CD209_uc002mhu.2_Missense_Mutation_p.R129Q|CD209_uc010dvq.2_Missense_Mutation_p.R129Q|CD209_uc002mhq.2_Missense_Mutation_p.R129Q|CD209_uc002mhv.2_Missense_Mutation_p.R105Q|CD209_uc002mhx.2_Missense_Mutation_p.R85Q|CD209_uc002mhw.2_Missense_Mutation_p.R85Q|CD209_uc010dvr.2_Intron	p.R129Q	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			4	453	-			129			Extracellular (Probable).|2.|7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.386G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	0.564	-0.844081	0.02671	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;2.29	1.41	-2.82	0.05787	.	.	.	.	.	T	0.07413	0.0187	N	0.04787	-0.16	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.19935	0.038;0.002;0.002;0.012;0.021;0.005;0.013;0.02;0.04;0.021	B;B;B;B;B;B;B;B;B;B	0.12156	0.006;0.006;0.001;0.004;0.004;0.002;0.002;0.005;0.005;0.007	T	0.38866	-0.9641	9	0.09843	T	0.71	.	6.588	0.22632	0.0:0.4003:0.0:0.5997	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	Q	129;129;105;85;129;85;113	ENSP00000315477:R129Q;ENSP00000346373:R129Q;ENSP00000315407:R105Q;ENSP00000204801:R85Q;ENSP00000301357:R85Q	ENSP00000204801:R85Q	R	-	2	0	CD209	7716766	0.000000	0.05858	0.009000	0.14445	0.384000	0.30261	-1.923000	0.01567	-1.604000	0.01595	-1.804000	0.00617	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1		NM_021155		7	214	0	0	0	0.006214	0	7	214		
FBN3	84467	broad.mit.edu	37	19	8182137	8182137	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:8182137C>T	ENST00000600128.1	-	28	3916	c.3502G>A	c.(3502-3504)Gtg>Atg	p.V1168M	FBN3_ENST00000601739.1_Missense_Mutation_p.V1168M|FBN3_ENST00000270509.2_Missense_Mutation_p.V1168M			Q75N90	FBN3_HUMAN	fibrillin 3	1168	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATACAGTGCACGTCACACCCA	0.637																																						uc002mjf.2		NaN																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(3502-3504)GTG>ATG		fibrillin 3 precursor							84.0	69.0	74.0					19																	8182137		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8182137C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3502G>A	19.37:g.8182137C>T	ENSP00000470498:p.Val1168Met						p.V1168M	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			27	3523	-			1168			EGF-like 16; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.3502G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	8.971	0.972843	0.18736	.	.	ENSG00000142449	ENST00000270509	D	0.96300	-3.97	3.68	-5.54	0.02544	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.335149	0.29328	N	0.012475	D	0.88202	0.6373	N	0.20807	0.61	0.09310	N	1	B	0.18610	0.029	B	0.12156	0.007	T	0.77485	-0.2570	10	0.38643	T	0.18	.	6.9899	0.24750	0.1411:0.1548:0.0:0.704	.	1168	Q75N90	FBN3_HUMAN	M	1168	ENSP00000270509:V1168M	ENSP00000270509:V1168M	V	-	1	0	FBN3	8088137	0.278000	0.24230	0.000000	0.03702	0.038000	0.13279	1.059000	0.30517	-0.837000	0.04223	-1.800000	0.00619	GTG		0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2		NM_032447		31	148	0	0	0	0.009718	0	31	148		
ZNF558	148156	broad.mit.edu	37	19	8922561	8922561	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:8922561T>G	ENST00000601372.1	-	10	1316	c.605A>C	c.(604-606)cAt>cCt	p.H202P	ZNF558_ENST00000444186.2_Missense_Mutation_p.H131P|ZNF558_ENST00000301475.1_Missense_Mutation_p.H202P			Q96NG5	ZN558_HUMAN	zinc finger protein 558	202					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(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CTCCCCATTATGGATTCTCTT	0.413																																						uc002mkn.1		NaN																	0				central_nervous_system(1)	1						c.(604-606)CAT>CCT		zinc finger protein 558							73.0	71.0	72.0					19																	8922561		2203	4300	6503	SO:0001583	missense	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8922561T>G	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.605A>C	19.37:g.8922561T>G	ENSP00000471277:p.His202Pro					ZNF558_uc010xkh.1_Missense_Mutation_p.H131P|ZNF558_uc010dwg.1_Missense_Mutation_p.H202P	p.H202P	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN			6	835	-			202			C2H2-type 2.		A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	c.605A>C	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952979	0.73902	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	D;D	0.88975	-2.45;-2.45	4.98	4.98	0.66077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000411	D	0.95853	0.8650	H	0.95470	3.675	0.48901	D	0.999726	D	0.89917	1.0	D	0.97110	1.0	D	0.96735	0.9542	10	0.87932	D	0	-14.8347	12.6302	0.56653	0.0:0.0:0.0:1.0	.	202	Q96NG5	ZN558_HUMAN	P	202;131	ENSP00000301475:H202P;ENSP00000410703:H131P	ENSP00000301475:H202P	H	-	2	0	ZNF558	8783561	1.000000	0.71417	0.963000	0.40424	0.975000	0.68041	7.206000	0.77891	2.086000	0.62901	0.482000	0.46254	CAT		0.413	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2		NM_144693		14	63	0	0	0	0.006122	0	14	63		
MUC16	94025	broad.mit.edu	37	19	8969284	8969284	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:8969284C>G	ENST00000397910.4	-	79	43263	c.43060G>C	c.(43060-43062)Gag>Cag	p.E14354Q	MUC16_ENST00000380951.5_Missense_Mutation_p.E995Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14450	SEA 15. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCGCATCCTCAATATTCCTT	0.478																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(43060-43062)GAG>CAG		mucin 16							224.0	214.0	217.0					19																	8969284		1999	4162	6161	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8969284C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43060G>C	19.37:g.8969284C>G	ENSP00000381008:p.Glu14354Gln					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E1154Q|MUC16_uc010xki.1_RNA	p.E14354Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			79	43264	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.43060G>C	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.51|10.51	1.369176|1.369176	0.24771|0.24771	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.38887|.	1.11;1.11|.	4.3|4.3	3.24|3.24	0.37175|0.37175	SEA (3);|.	0.930262|.	0.08773|.	N|.	0.895902|.	T|T	0.52092|0.52092	0.1713|0.1713	.|.	.|.	.|.	.|.	.|.	.|.	P;P|.	0.44090|.	0.805;0.826|.	B;P|.	0.59703|.	0.4;0.862|.	T|T	0.61564|0.61564	-0.7037|-0.7037	8|3	0.25751|.	T|.	0.34|.	.|.	10.2897|10.2897	0.43588|0.43588	0.0:0.7995:0.2004:0.0|0.0:0.7995:0.2004:0.0	.|.	21999;14354|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	Q|F	14354;995|1176	ENSP00000381008:E14354Q;ENSP00000370338:E995Q|.	ENSP00000370338:E995Q|.	E|L	-|-	1|3	0|2	MUC16|MUC16	8830284|8830284	0.001000|0.001000	0.12720|0.12720	0.005000|0.005000	0.12908|0.12908	0.009000|0.009000	0.06853|0.06853	0.197000|0.197000	0.17197|0.17197	1.147000|1.147000	0.42369|0.42369	0.655000|0.655000	0.94253|0.94253	GAG|TTG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		46	222	0	0	0	0.00361	0	46	222		
MUC16	94025	broad.mit.edu	37	19	9058783	9058783	+	Missense_Mutation	SNP	T	T	C	rs202143591		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:9058783T>C	ENST00000397910.4	-	3	28866	c.28663A>G	c.(28663-28665)Ata>Gta	p.I9555V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9557	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTCTCTTATAGAGGAAGAG	0.488																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(28663-28665)ATA>GTA		mucin 16							90.0	85.0	87.0					19																	9058783		1920	4130	6050	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058783T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28663A>G	19.37:g.9058783T>C	ENSP00000381008:p.Ile9555Val						p.I9555V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	28867	-			9557			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28663A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	10.04	1.241695	0.22711	.	.	ENSG00000181143	ENST00000397910	T	0.23950	1.88	2.08	-4.17	0.03857	.	.	.	.	.	T	0.10465	0.0256	N	0.12182	0.205	.	.	.	B	0.06786	0.001	B	0.09377	0.004	T	0.23940	-1.0174	8	0.87932	D	0	.	0.1709	0.00113	0.3315:0.2492:0.1681:0.2511	.	9555	B5ME49	.	V	9555	ENSP00000381008:I9555V	ENSP00000381008:I9555V	I	-	1	0	MUC16	8919783	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.682000	0.00836	-1.995000	0.00971	-0.921000	0.02739	ATA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		39	8	0	0	0	0.00361	0	39	8		
MUC16	94025	broad.mit.edu	37	19	9065491	9065491	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:9065491C>G	ENST00000397910.4	-	3	22158	c.21955G>C	c.(21955-21957)Gca>Cca	p.A7319P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7321	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGATTCTGCCAGGATGGGG	0.453																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(21955-21957)GCA>CCA		mucin 16							135.0	129.0	131.0					19																	9065491		1914	4117	6031	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065491C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21955G>C	19.37:g.9065491C>G	ENSP00000381008:p.Ala7319Pro						p.A7319P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	22159	-			7321			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.21955G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	2.976	-0.211408	0.06140	.	.	ENSG00000181143	ENST00000397910	T	0.02863	4.13	2.97	-5.94	0.02247	.	.	.	.	.	T	0.01765	0.0056	N	0.19112	0.55	.	.	.	B	0.20052	0.041	B	0.20767	0.031	T	0.45026	-0.9289	8	0.87932	D	0	.	1.9402	0.03345	0.1183:0.1677:0.2353:0.4786	.	7319	B5ME49	.	P	7319	ENSP00000381008:A7319P	ENSP00000381008:A7319P	A	-	1	0	MUC16	8926491	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.012000	0.03649	-2.793000	0.00355	-0.781000	0.03364	GCA		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		30	10	0	0	0	0.002836	0	30	10		
MUC16	94025	broad.mit.edu	37	19	9086871	9086871	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:9086871G>T	ENST00000397910.4	-	1	5147	c.4944C>A	c.(4942-4944)gcC>gcA	p.A1648A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1648	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGAAGGTGGGCTATGCCCA	0.517																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(4942-4944)GCC>GCA		mucin 16							171.0	165.0	167.0					19																	9086871		2034	4200	6234	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086871G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4944C>A	19.37:g.9086871G>T							p.A1648A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	5148	-			1648			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.4944C>A	CCDS54212.1																																																																																				0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		118	34	1	0	3.47496e-60	0.00361	4.12536e-60	118	34		
COL5A3	50509	broad.mit.edu	37	19	10084485	10084485	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:10084485C>T	ENST00000264828.3	-	49	3644	c.3559G>A	c.(3559-3561)Ggc>Agc	p.G1187S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1187	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTGGAGTGCCCTGGAGAGAC	0.592																																						uc002mmq.1		NaN																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(3559-3561)GGC>AGC		collagen, type V, alpha 3 preproprotein							74.0	84.0	81.0					19																	10084485		2203	4299	6502	SO:0001630	splice_region_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10084485C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3559-1G>A	19.37:g.10084485C>T							p.G1187S	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		49	3645	-			1187			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.3559G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170231	0.78452	.	.	ENSG00000080573	ENST00000264828	D	0.99607	-6.27	4.55	4.55	0.56014	.	0.153445	0.42548	U	0.000690	D	0.99743	0.9898	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97092	0.9791	10	0.87932	D	0	.	14.8259	0.70113	0.0:1.0:0.0:0.0	.	1187	P25940	CO5A3_HUMAN	S	1187	ENSP00000264828:G1187S	ENSP00000264828:G1187S	G	-	1	0	COL5A3	9945485	1.000000	0.71417	0.997000	0.53966	0.468000	0.32798	5.277000	0.65586	2.344000	0.79699	0.491000	0.48974	GGC		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1		NM_015719	Missense_Mutation	93	39	0	0	0	0.00361	0	93	39		
COL5A3	50509	broad.mit.edu	37	19	10116261	10116261	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:10116261G>A	ENST00000264828.3	-	4	652	c.567C>T	c.(565-567)acC>acT	p.T189T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	189	Laminin G-like.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAAGGTCCTGGGTCCCCAGCA	0.562																																						uc002mmq.1		NaN																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(565-567)ACC>ACT		collagen, type V, alpha 3 preproprotein							67.0	67.0	67.0					19																	10116261		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10116261G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.567C>T	19.37:g.10116261G>A							p.T189T	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		4	653	-			189			TSP N-terminal.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.567C>T	CCDS12222.1																																																																																				0.562	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1		NM_015719		3	71	0	0	0	0.001168	0	3	71		
P2RY11	5032	broad.mit.edu	37	19	10225253	10225253	+	Missense_Mutation	SNP	A	A	G	rs200231187		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:10225253A>G	ENST00000321826.4	+	2	1148	c.964A>G	c.(964-966)Atg>Gtg	p.M322V	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN_ENST00000556468.1_Missense_Mutation_p.M742V|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.M742V	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	322					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			TCTACTCTACATGGCCGCAGT	0.682																																						uc002mna.2		NaN																	0				ovary(2)	2						c.(2224-2226)ATG>GTG		PPAN-P2RY11 protein							44.0	50.0	48.0					19																	10225253		2203	4300	6503	SO:0001583	missense	692312				RNA splicing	nucleolus	protein binding	g.chr19:10225253A>G	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.964A>G	19.37:g.10225253A>G	ENSP00000323872:p.Met322Val					PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Missense_Mutation_p.M322V	p.M742V	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	2224	+			Error:Variant_position_missing_in_Q9NQ55_after_alignment					B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	c.2224A>G	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	A	8.920	0.960905	0.18583	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	T;T;T	0.35973	1.28;1.28;1.28	3.91	2.89	0.33648	.	0.257041	0.36591	U	0.002505	T	0.21103	0.0508	L	0.27053	0.805	0.27687	N	0.946259	P	0.48089	0.905	B	0.41894	0.369	T	0.10086	-1.0645	10	0.13853	T	0.58	-19.6697	7.3187	0.26515	0.8916:0.0:0.1084:0.0	.	322	Q96G91	P2Y11_HUMAN	V	742;742;322	ENSP00000377385:M742V;ENSP00000450710:M742V;ENSP00000323872:M322V	ENSP00000323872:M322V	M	+	1	0	PPAN;P2RY11;PPAN-P2RY11	10086253	0.937000	0.31787	0.989000	0.46669	0.031000	0.12232	0.335000	0.19806	0.576000	0.29452	-0.379000	0.06801	ATG		0.682	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2		NM_002566		21	89	0	0	0	0.004656	0	21	89		
PRKCSH	5589	broad.mit.edu	37	19	11558507	11558507	+	Splice_Site	SNP	G	G	A	rs144378054		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:11558507G>A	ENST00000589838.1	+	11	1008		c.e11-1		PRKCSH_ENST00000412601.1_Intron|PRKCSH_ENST00000252455.2_Splice_Site|PRKCSH_ENST00000592741.1_Splice_Site|PRKCSH_ENST00000591462.1_Intron|PRKCSH_ENST00000587327.1_Intron			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H						cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CCCTGCCCCAGGAGGCCCCAC	0.667																																						uc002mrt.2		NaN																	0					0						c.e12-1		protein kinase C substrate 80K-H isoform 1							12.0	13.0	13.0					19																	11558507		2174	4273	6447	SO:0001630	splice_region_variant	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11558507G>A		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1009-1G>A	19.37:g.11558507G>A						PRKCSH_uc002mru.2_Intron|PRKCSH_uc010xlz.1_Splice_Site_p.E344_splice|PRKCSH_uc010dya.2_Splice_Site_p.E119_splice|PRKCSH_uc010dyb.2_Intron	p.E337_splice	NM_002743	NP_002734	P14314	GLU2B_HUMAN			12	1345	+								A8K318|Q96BU9|Q96D06|Q9P0W9	Splice_Site	SNP	ENST00000589838.1	37	c.1009_splice	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612428	0.46631	.	.	ENSG00000130175	ENST00000252455	.	.	.	4.92	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7277	0.40342	0.0:0.0:0.666:0.334	.	.	.	.	.	-1	.	.	.	+	.	.	PRKCSH	11419507	0.963000	0.33076	0.994000	0.49952	0.158000	0.22134	1.126000	0.31344	2.264000	0.75181	0.491000	0.48974	.		0.667	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			Intron	7	4	0	0	0	0.006214	0	7	4		
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						uc002mta.1		NaN																	0					0						c.(682-684)AGT>AGG		zinc finger protein 878							189.0	199.0	196.0					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg						p.S228R	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN			5	684	-			181			C2H2-type 3.			Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1		NM_001080404		8	179	0	0	0	0.00308	0	8	179		
DNASE2	1777	broad.mit.edu	37	19	12984213	12984213	+	IGR	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:12984213G>T	ENST00000222219.3	-	0	1955				AC020934.1_ENST00000578125.1_RNA|MAST1_ENST00000251472.4_Silent_p.S1113S	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CGCTGTCGTCGCTGAACCGCT	0.667																																						uc002mvm.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(3337-3339)TCG>TCT		microtubule associated serine/threonine kinase							40.0	37.0	38.0					19																	12984213		2203	4300	6503	SO:0001628	intergenic_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12984213G>T	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12984213G>T							p.S1113S	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			25	3467	+			1113					B2RD06|B7Z4K6|O43910	Silent	SNP	ENST00000222219.3	37	c.3339G>T	CCDS12284.1																																																																																				0.667	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1				17	14	1	0	1.55795e-14	0.012319	1.72072e-14	17	14		
FARSA	2193	broad.mit.edu	37	19	13039382	13039382	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:13039382C>A	ENST00000314606.4	-	6	710	c.692G>T	c.(691-693)cGc>cTc	p.R231L	FARSA_ENST00000588025.1_Missense_Mutation_p.R271L|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000423140.2_Missense_Mutation_p.R200L	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	231					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GAACTGGGAGCGGACCTTGAG	0.657																																						uc002mvs.2		NaN																	0				ovary(1)	1						c.(691-693)CGC>CTC		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						39.0	37.0	38.0					19																	13039382		2203	4300	6503	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13039382C>A	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.692G>T	19.37:g.13039382C>A	ENSP00000320309:p.Arg231Leu					FARSA_uc002mvt.2_Intron|FARSA_uc010xmv.1_Missense_Mutation_p.R200L|FARSA_uc010dyy.1_Missense_Mutation_p.R152L	p.R231L	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN			6	740	-			231					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.692G>T	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181803	0.94885	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.62498	0.02;0.02	4.7	4.7	0.59300	Aminoacyl-tRNA synthetase, class II (1);Phenylalanyl-tRNA synthetase (1);	0.000000	0.85682	D	0.000000	T	0.76941	0.4058	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.961;0.961	T	0.79727	-0.1682	10	0.87932	D	0	-15.8161	16.5533	0.84478	0.0:1.0:0.0:0.0	.	200;231;231	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	L	231;200	ENSP00000320309:R231L;ENSP00000396548:R200L	ENSP00000320309:R231L	R	-	2	0	FARSA	12900382	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.240000	0.78192	2.447000	0.82792	0.563000	0.77884	CGC		0.657	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1		NM_004461		25	13	1	0	5.60225e-13	0.009535	6.1266e-13	25	13		
NFIX	4784	broad.mit.edu	37	19	13201190	13201190	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:13201190C>A	ENST00000592199.1	+	10	1480	c.1480C>A	c.(1480-1482)Cca>Aca	p.P494T	NFIX_ENST00000585575.1_Missense_Mutation_p.P486T|NFIX_ENST00000358552.3_Missense_Mutation_p.P452T|NFIX_ENST00000588228.1_Missense_Mutation_p.P447T|NFIX_ENST00000587260.1_3'UTR|NFIX_ENST00000397661.2_3'UTR|NFIX_ENST00000587760.1_3'UTR|NFIX_ENST00000360105.4_3'UTR			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	494					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TCTGAACATCCCACAGCAGTC	0.622																																						uc010xmx.1		NaN																	0				breast(1)|skin(1)	2						c.(1504-1506)CCA>ACA		RecName: Full=Nuclear factor 1;							91.0	95.0	94.0					19																	13201190		1967	4166	6133	SO:0001583	missense	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13201190C>A	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1480C>A	19.37:g.13201190C>A	ENSP00000467512:p.Pro494Thr					NFIX_uc002mwd.2_3'UTR|NFIX_uc002mwe.2_3'UTR|NFIX_uc002mwf.2_3'UTR|NFIX_uc002mwg.1_3'UTR	p.P502T			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		10	1557	+			494					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37	c.1504C>A		.	.	.	.	.	.	.	.	.	.	C	24.1	4.489456	0.84962	.	.	ENSG00000008441	ENST00000397661;ENST00000358552	T	0.45668	0.89	4.6	4.6	0.57074	.	0.000000	0.64402	U	0.000001	T	0.65943	0.2740	.	.	.	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.71731	-0.4504	9	0.72032	D	0.01	.	16.213	0.82185	0.0:1.0:0.0:0.0	.	502	B4DHW2	.	T	494;452	ENSP00000351354:P452T	ENSP00000351354:P452T	P	+	1	0	NFIX	13062190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.138000	0.77305	2.103000	0.63969	0.563000	0.77884	CCA		0.622	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1		NM_002501		17	59	1	0	2.21704e-12	0.00278	2.41266e-12	17	59		
CACNA1A	773	broad.mit.edu	37	19	13325352	13325352	+	Silent	SNP	G	G	T	rs180688469		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:13325352G>T	ENST00000360228.5	-	39	5801	c.5802C>A	c.(5800-5802)tcC>tcA	p.S1934S	CACNA1A_ENST00000573710.2_Silent_p.S1935S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1935					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGTCTTCTGGGACAGATTGG	0.582																																						uc010dze.2		NaN																	0				large_intestine(2)	2						c.(5803-5805)TCC>TCA		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						63.0	67.0	66.0					19																	13325352		2167	4262	6429	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13325352G>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5802C>A	19.37:g.13325352G>T						CACNA1A_uc010xnd.1_Silent_p.S640S|CACNA1A_uc002mwx.3_Silent_p.S640S|CACNA1A_uc010dzc.2_Silent_p.S1460S|CACNA1A_uc002mwy.3_Silent_p.S1934S|CACNA1A_uc002mwv.3_Silent_p.S451S	p.S1935S	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		39	6041	-			1935			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.5805C>A	CCDS45998.1																																																																																				0.582	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2		NM_000068		19	13	1	0	7.41945e-09	0.005443	7.8186e-09	19	13		
LPHN1	22859	broad.mit.edu	37	19	14263685	14263685	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:14263685A>T	ENST00000340736.6	-	20	3646	c.3349T>A	c.(3349-3351)Tgc>Agc	p.C1117S	LPHN1_ENST00000361434.3_Missense_Mutation_p.C1112S|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1117					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGATGCAGCAGTAGGAGTGA	0.627																																						uc010xnn.1		NaN																	0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(3349-3351)TGC>AGC		latrophilin 1 isoform 1 precursor							134.0	117.0	123.0					19																	14263685		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14263685A>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3349T>A	19.37:g.14263685A>T	ENSP00000340688:p.Cys1117Ser					LPHN1_uc010xno.1_Missense_Mutation_p.C1112S|uc002myf.2_Intron	p.C1117S	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			20	3645	-			1117			Cytoplasmic (Potential).		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.3349T>A	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.709222	0.89018	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.37752	1.18;1.18	5.26	5.26	0.73747	GPCR, family 2, latrophilin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.58736	-0.7584	10	0.72032	D	0.01	.	11.5595	0.50768	1.0:0.0:0.0:0.0	.	1112;1117	O94910-2;O94910	.;LPHN1_HUMAN	S	1117;1112	ENSP00000340688:C1117S;ENSP00000355328:C1112S	ENSP00000340688:C1117S	C	-	1	0	LPHN1	14124685	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.483000	0.81158	1.991000	0.58162	0.459000	0.35465	TGC		0.627	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1		NM_014921		41	109	0	0	0	0.00361	0	41	109		
TECR	9524	broad.mit.edu	37	19	14640523	14640523	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:14640523G>A	ENST00000215567.5	+	1	152	c.15G>A	c.(13-15)gaG>gaA	p.E5E	TECR_ENST00000436007.2_5'UTR|MIR639_ENST00000384974.1_RNA|TECR_ENST00000600083.1_De_novo_Start_OutOfFrame|DNAJB1_ENST00000396969.4_5'Flank|TECR_ENST00000596073.1_De_novo_Start_OutOfFrame|TECR_ENST00000596164.1_3'UTR	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	5					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						AGCATTACGAGGTAAGAAGCG	0.622																																						uc002mza.2		NaN																	0					0						c.(13-15)GAG>GAA		glycoprotein, synaptic 2							59.0	62.0	61.0					19																	14640523		2203	4300	6503	SO:0001630	splice_region_variant	9524				fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity	g.chr19:14640523G>A	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.15+1G>A	19.37:g.14640523G>A						DNAJB1_uc010xnr.1_5'Flank|TECR_uc002mzb.2_5'UTR|TECR_uc010xns.1_5'UTR|TECR_uc002mzc.2_5'UTR|TECR_uc002mzd.2_Silent_p.E5E	p.E5E	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN			1	142	+			5					B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Silent	SNP	ENST00000215567.5	37	c.15G>A	CCDS12313.1																																																																																				0.622	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1		NM_138501	Silent	5	36	0	0	0	0.004482	0	5	36		
MYO9B	4650	broad.mit.edu	37	19	17312810	17312810	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:17312810A>T	ENST00000594824.1	+	27	4786	c.4639A>T	c.(4639-4641)Atc>Ttc	p.I1547F	MYO9B_ENST00000397274.2_Missense_Mutation_p.I1547F|MYO9B_ENST00000595618.1_Missense_Mutation_p.I1547F			Q13459	MYO9B_HUMAN	myosin IXB	1547	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAGGAGCAACATCAAAACGAT	0.567																																						uc010eak.2		NaN																	0				breast(1)	1						c.(4639-4641)ATC>TTC		myosin IXB isoform 1							79.0	82.0	81.0					19																	17312810		1997	4176	6173	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17312810A>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4639A>T	19.37:g.17312810A>T	ENSP00000471367:p.Ile1547Phe					MYO9B_uc002nfi.2_Missense_Mutation_p.I1547F|MYO9B_uc002nfj.1_Missense_Mutation_p.I1547F|MYO9B_uc002nfl.1_Missense_Mutation_p.I96F	p.I1547F	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			27	4791	+			1547			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4639A>T		.	.	.	.	.	.	.	.	.	.	A	16.03	3.006637	0.54361	.	.	ENSG00000099331	ENST00000397274	D	0.88354	-2.37	4.82	1.23	0.21249	.	0.246954	0.27375	N	0.019657	D	0.88573	0.6473	M	0.70595	2.14	0.40657	D	0.982096	B;P;B;P	0.38922	0.331;0.651;0.331;0.52	B;B;B;B	0.42653	0.155;0.394;0.155;0.221	D	0.87553	0.2466	10	0.62326	D	0.03	.	12.8543	0.57876	0.4347:0.5653:0.0:0.0	.	1547;1547;1547;1553	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	F	1547	ENSP00000380444:I1547F	ENSP00000380444:I1547F	I	+	1	0	MYO9B	17173810	0.998000	0.40836	1.000000	0.80357	0.902000	0.53008	3.678000	0.54627	0.311000	0.23014	0.402000	0.26972	ATC		0.567	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1				11	7	0	0	0	0.003163	0	11	7		
ATP13A1	57130	broad.mit.edu	37	19	19756542	19756542	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:19756542C>G	ENST00000357324.6	-	25	3444	c.3418G>C	c.(3418-3420)Gtt>Ctt	p.V1140L	GMIP_ENST00000203556.4_5'Flank|GMIP_ENST00000445806.2_5'Flank|ATP13A1_ENST00000291503.5_Missense_Mutation_p.V1022L|GMIP_ENST00000587238.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1140						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGGAGTGAAACTGCCAGACTC	0.637																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	uc002nnh.3		NaN																	0				ovary(3)|large_intestine(2)|central_nervous_system(1)	6						c.(3418-3420)GTT>CTT		ATPase type 13A1							35.0	36.0	36.0					19																	19756542		2203	4299	6502	SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19756542C>G	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.3418G>C	19.37:g.19756542C>G	ENSP00000349877:p.Val1140Leu					GMIP_uc002nnd.2_5'Flank|GMIP_uc010xrb.1_5'Flank|GMIP_uc010xrc.1_5'Flank|ATP13A1_uc002nne.2_Missense_Mutation_p.V280L|ATP13A1_uc002nnf.3_Missense_Mutation_p.V508L|ATP13A1_uc002nng.2_Missense_Mutation_p.V1022L	p.V1140L	NM_020410	NP_065143	Q9HD20	AT131_HUMAN			25	3446	-			1140			Helical; (Potential).		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.3418G>C	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	C	9.064	0.995235	0.19043	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.58210	0.35;0.35	5.49	-2.49	0.06403	.	0.474234	0.21450	N	0.074359	T	0.15565	0.0375	N	0.02539	-0.55	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.21449	-1.0245	10	0.08599	T	0.76	-9.7895	1.8594	0.03186	0.2668:0.2199:0.3737:0.1397	.	1140;1022	Q9HD20;Q9HD20-2	AT131_HUMAN;.	L	1022;1140	ENSP00000291503:V1022L;ENSP00000349877:V1140L	ENSP00000291503:V1022L	V	-	1	0	ATP13A1	19617542	0.002000	0.14202	0.363000	0.25875	0.811000	0.45836	-0.045000	0.12003	0.223000	0.20920	0.561000	0.74099	GTT		0.637	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1		NM_020410		2	2	0	0	0	0.004672	0	2	2		
ZNF626	199777	broad.mit.edu	37	19	20808090	20808090	+	Missense_Mutation	SNP	C	C	T	rs202218510		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:20808090C>T	ENST00000601440.1	-	4	739	c.593G>A	c.(592-594)gGg>gAg	p.G198E	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	198					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)|endometrium(1)|lung(3)|skin(1)	6						GTAGGGTTTCCCTCCAGTATG	0.363																																						uc002npb.1		NaN																	0				skin(1)	1						c.(592-594)GGG>GAG		zinc finger protein 626 isoform 1							52.0	54.0	54.0					19																	20808090		2128	4271	6399	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20808090C>T	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.593G>A	19.37:g.20808090C>T	ENSP00000469958:p.Gly198Glu					ZNF626_uc002npc.1_Missense_Mutation_p.G122E	p.G198E	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	743	-			198					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.593G>A	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.007	-1.941947	0.00479	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.832	-0.483	0.12075	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	N	0.00071	-2.27	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43410	-0.9393	8	0.02654	T	1	.	3.3961	0.07307	0.0:0.3539:0.0:0.6461	.	198	Q68DY1	ZN626_HUMAN	E	198;122;198	.	ENSP00000445201:G198E	G	-	2	0	ZNF626	20599930	0.011000	0.17503	0.160000	0.22671	0.160000	0.22226	0.267000	0.18552	0.171000	0.19730	0.174000	0.16983	GGG		0.363	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2		NM_145297		3	15	0	0	0	0.004672	0	3	15		
ZNF493	284443	broad.mit.edu	37	19	21606522	21606522	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:21606522A>G	ENST00000355504.4	+	2	943	c.677A>G	c.(676-678)tAt>tGt	p.Y226C	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.Y354C	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGTGAAGAATATTGCAAAGCT	0.358																																						uc002npx.2		NaN																	0				ovary(1)	1						c.(676-678)TAT>TGT		zinc finger protein 493 isoform 1							47.0	52.0	50.0					19																	21606522		2201	4294	6495	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606522A>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.677A>G	19.37:g.21606522A>G	ENSP00000347691:p.Tyr226Cys					ZNF493_uc002npw.2_Missense_Mutation_p.Y354C|ZNF493_uc002npy.2_Missense_Mutation_p.Y226C	p.Y226C	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	957	+			226			C2H2-type 8; degenerate.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.677A>G	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.916632	0.00503	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.03831	3.79;3.79	0.966	-1.93	0.07594	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00637	0.0021	N	0.00019	-2.785	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.48714	-0.9011	9	0.02654	T	1	.	6.795	0.23721	0.1994:0.0:0.8006:0.0	.	226;354	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	C	354;226	ENSP00000376110:Y354C;ENSP00000347691:Y226C	ENSP00000347691:Y226C	Y	+	2	0	ZNF493	21398362	0.992000	0.36948	0.002000	0.10522	0.002000	0.02628	1.947000	0.40293	-1.292000	0.02366	-1.324000	0.01287	TAT		0.358	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1		NM_175910		3	41	0	0	0	0.004672	0	3	41		
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398																																						uc002nqp.2		NaN																	0				ovary(5)|skin(2)	7						c.(1639-1641)ATT>AGT		zinc finger protein 208							108.0	112.0	110.0					19																	22155896		2126	4263	6389	SO:0001583	missense	7757							g.chr19:22155896A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1940T>G	19.37:g.22155896A>C	ENSP00000380315:p.Ile647Ser					ZNF208_uc002nqo.1_Intron	p.I547S	NM_007153	NP_009084					5	1789	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1640T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.852850	0.00004	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.34472	1.36	2.49	-4.98	0.03019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.28385	0.089	T	0.08932	-1.0698	8	0.02654	T	1	.	3.9444	0.09343	0.0966:0.28:0.437:0.1864	.	547	O43345	ZN208_HUMAN	S	647;547	ENSP00000380315:I647S	ENSP00000380315:I647S	I	-	2	0	ZNF208	21947736	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.082000	0.00014	-4.116000	0.00072	-4.061000	0.00012	ATT		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1		NM_007153		3	63	0	0	0	0.001168	0	3	63		
ZNF507	22847	broad.mit.edu	37	19	32845599	32845599	+	Missense_Mutation	SNP	C	C	G	rs139741881		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:32845599C>G	ENST00000311921.4	+	2	2055	c.1863C>G	c.(1861-1863)agC>agG	p.S621R	ZNF507_ENST00000544431.1_Missense_Mutation_p.S621R|ZNF507_ENST00000355898.5_Missense_Mutation_p.S621R	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	621					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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AACCCAACAGCGATACAAGTT	0.488																																						uc002nte.2		NaN																	0				ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(1861-1863)AGC>AGG		zinc finger protein 507							109.0	94.0	99.0					19																	32845599		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32845599C>G	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1863C>G	19.37:g.32845599C>G	ENSP00000312277:p.Ser621Arg					ZNF507_uc002ntc.2_Missense_Mutation_p.S621R|ZNF507_uc010xrn.1_Missense_Mutation_p.S621R|ZNF507_uc002ntd.2_Missense_Mutation_p.S621R	p.S621R	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN			3	2135	+	Esophageal squamous(110;0.162)		621					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.1863C>G	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.661803	0.29515	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.06608	3.6;3.6;3.28	5.63	-11.0	0.00169	.	0.506180	0.25332	N	0.031422	T	0.06508	0.0167	L	0.44542	1.39	0.09310	N	0.999999	P;P	0.46621	0.881;0.785	B;B	0.43155	0.253;0.41	T	0.36065	-0.9763	10	0.59425	D	0.04	.	20.4802	0.99198	0.0:0.1994:0.0:0.8006	.	621;621	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	R	621	ENSP00000348162:S621R;ENSP00000312277:S621R;ENSP00000441549:S621R	ENSP00000312277:S621R	S	+	3	2	ZNF507	37537439	0.000000	0.05858	0.001000	0.08648	0.339000	0.28857	-1.861000	0.01654	-2.059000	0.00894	-0.469000	0.05056	AGC		0.488	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3		NM_014910		12	165	0	0	0	0.004007	0	12	165		
ZFP14	57677	broad.mit.edu	37	19	36831467	36831467	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:36831467C>T	ENST00000270001.7	-	5	1376	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TAGGGTCTCTCACCAATATGA	0.403																																						uc002odx.1		NaN																	0				ovary(1)	1						c.(1261-1263)GAG>AAG		zinc finger protein 14-like							103.0	97.0	99.0					19																	36831467		2203	4300	6503	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36831467C>T	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1261G>A	19.37:g.36831467C>T	ENSP00000270001:p.Glu421Lys					ZFP14_uc010xtd.1_Missense_Mutation_p.E422K|ZFP14_uc010eex.1_Missense_Mutation_p.E421K	p.E421K	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			4	1354	-	Esophageal squamous(110;0.162)		421					A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.1261G>A	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	c	16.26	3.072678	0.55646	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.24350	1.86	3.99	2.96	0.34315	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000310	T	0.32971	0.0847	N	0.26092	0.79	0.80722	D	1	D;P	0.65815	0.995;0.784	D;P	0.67548	0.952;0.561	T	0.09443	-1.0674	10	0.62326	D	0.03	.	11.2209	0.48855	0.0:0.9:0.0:0.1	.	421;421	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	K	421	ENSP00000270001:E421K	ENSP00000270001:E421K	E	-	1	0	ZFP14	41523307	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	3.572000	0.53849	2.212000	0.71576	0.643000	0.83706	GAG		0.403	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1		NM_020917		27	105	0	0	0	0.009535	0	27	105		
FCGBP	8857	broad.mit.edu	37	19	40354440	40354440	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:40354440C>T	ENST00000221347.6	-	35	16036	c.16029G>A	c.(16027-16029)aaG>aaA	p.K5343K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5343	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACCCCTGCCTTCTGGCGGA	0.572																																						uc002omp.3		NaN																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(16027-16029)AAG>AAA		Fc fragment of IgG binding protein precursor							54.0	44.0	47.0					19																	40354440		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40354440C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.16029G>A	19.37:g.40354440C>T							p.K5343K	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		35	16037	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5343			VWFD 13.		O95784	Silent	SNP	ENST00000221347.6	37	c.16029G>A	CCDS12546.1																																																																																				0.572	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1		NM_003890		19	1	0	0	0	0.004656	0	19	1		
LTBP4	8425	broad.mit.edu	37	19	41115484	41115484	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:41115484G>A	ENST00000308370.7	+	13	1676	c.1676G>A	c.(1675-1677)gGa>gAa	p.G559E	LTBP4_ENST00000396819.3_Missense_Mutation_p.G492E|RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.G12E|LTBP4_ENST00000204005.9_Missense_Mutation_p.G522E	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	559	Cys-rich.|EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCGGCCCAGGACGCTGCATT	0.667																																						uc002ooh.1		NaN																	0				central_nervous_system(1)	1						c.(1675-1677)GGA>GAA		latent transforming growth factor beta binding							36.0	45.0	42.0					19																	41115484		2133	4234	6367	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41115484G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.1676G>A	19.37:g.41115484G>A	ENSP00000311905:p.Gly559Glu					LTBP4_uc002oog.1_Missense_Mutation_p.G522E|LTBP4_uc002ooi.1_Missense_Mutation_p.G492E|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank|LTBP4_uc010ehb.1_5'Flank|LTBP4_uc002ook.1_5'Flank	p.G559E	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		13	1676	+			559			Pro-rich.|EGF-like 3.|Cys-rich.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.1676G>A		.	.	.	.	.	.	.	.	.	.	g	18.02	3.530623	0.64860	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819	D;D;D;D	0.84298	-1.53;-1.83;-1.54;-1.53	4.68	4.68	0.58851	Epidermal growth factor-like (1);	0.000000	0.35495	U	0.003163	D	0.92482	0.7613	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.973;0.973	D	0.92946	0.6376	10	0.49607	T	0.09	.	14.5234	0.67870	0.0:0.0:1.0:0.0	.	492;559;522	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	E	522;12;559;492	ENSP00000204005:G522E;ENSP00000441054:G12E;ENSP00000311905:G559E;ENSP00000380031:G492E	ENSP00000204005:G522E	G	+	2	0	LTBP4	45807324	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	8.043000	0.89432	2.144000	0.66660	0.479000	0.44913	GGA		0.667	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_003573		48	2	0	0	0	0.00361	0	48	2		
CEACAM21	90273	broad.mit.edu	37	19	42092192	42092192	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:42092192G>A	ENST00000401445.2	+	6	876		c.e6-1		CEACAM21_ENST00000187608.9_Splice_Site|CEACAM21_ENST00000407170.2_Splice_Site|CEACAM21_ENST00000482870.2_Intron			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21							integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						TCTGTCCCCAGGCCATGGACC	0.587																																						uc002ore.3		NaN																	0				ovary(1)	1						c.e6-1		carcinoembryonic antigen-related cell adhesion							67.0	71.0	70.0					19																	42092192		2113	4255	6368	SO:0001630	splice_region_variant	90273					integral to membrane		g.chr19:42092192G>A	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.851-1G>A	19.37:g.42092192G>A						CEACAM21_uc002orc.1_Splice_Site|CEACAM21_uc002ord.1_Intron|CEACAM21_uc002orf.2_Splice_Site|CEACAM21_uc002org.3_Splice_Site_p.G283_splice	p.G284_splice	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN			6	947	+								B7WNQ6|O75296|Q6UY47|Q96ER7	Splice_Site	SNP	ENST00000401445.2	37	c.851_splice	CCDS46086.1	.	.	.	.	.	.	.	.	.	.	-	2.148	-0.395189	0.04899	.	.	ENSG00000007129	ENST00000407170;ENST00000187608;ENST00000401445	.	.	.	1.18	-2.13	0.07144	.	.	.	.	.	.	.	.	.	.	.	0.21105	N	0.999789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3787	0.11283	0.4349:0.0:0.5651:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEACAM21	46784032	0.032000	0.19561	0.003000	0.11579	0.100000	0.18952	-0.047000	0.11963	-0.392000	0.07751	0.123000	0.15791	.		0.587	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1		NM_033543	Intron	15	1	0	0	0	0.010504	0	15	1		
PRKD2	25865	broad.mit.edu	37	19	47178362	47178362	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:47178362G>C	ENST00000291281.4	-	17	2577	c.2352C>G	c.(2350-2352)atC>atG	p.I784M	PRKD2_ENST00000433867.1_Missense_Mutation_p.I784M|PRKD2_ENST00000595515.1_Missense_Mutation_p.I794M|PRKD2_ENST00000601806.1_Missense_Mutation_p.I627M|DACT3-AS1_ENST00000525008.1_RNA|DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000600194.1_Missense_Mutation_p.I627M			Q9BZL6	KPCD2_HUMAN	protein kinase D2	784	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCAGGTTGTTGATGAGGTCAA	0.572																																						uc002pfh.2		NaN																	0				ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(2350-2352)ATC>ATG		protein kinase D2 isoform A							83.0	55.0	64.0					19																	47178362		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47178362G>C	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2352C>G	19.37:g.47178362G>C	ENSP00000291281:p.Ile784Met					PRKD2_uc002pfd.2_Missense_Mutation_p.I158M|PRKD2_uc010eks.2_Missense_Mutation_p.I187M|PRKD2_uc010ekt.2_Missense_Mutation_p.I51M|PRKD2_uc002pfe.2_Missense_Mutation_p.I314M|PRKD2_uc002pff.2_Missense_Mutation_p.I304M|PRKD2_uc002pfg.2_Missense_Mutation_p.I627M|PRKD2_uc002pfi.2_Missense_Mutation_p.I784M|PRKD2_uc002pfj.2_Missense_Mutation_p.I784M|PRKD2_uc010xye.1_Missense_Mutation_p.I794M|PRKD2_uc002pfk.2_Missense_Mutation_p.I627M	p.I784M	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	18	2694	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	784			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.2352C>G	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799862	0.70567	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.70516	-0.49;-0.49	5.39	4.31	0.51392	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.80401	0.4616	M	0.69248	2.105	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.999	T	0.81212	-0.1035	10	0.87932	D	0	-42.6054	9.0504	0.36372	0.1816:0.0:0.8184:0.0	.	794;269;784	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	M	784	ENSP00000291281:I784M;ENSP00000393978:I784M	ENSP00000291281:I784M	I	-	3	3	PRKD2	51870202	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.579000	0.46059	1.316000	0.45131	-0.345000	0.07892	ATC		0.572	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1		NM_016457		13	0	0	0	0	0.003163	0	13	0		
IL4I1	259307	broad.mit.edu	37	19	50393824	50393824	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:50393824C>A	ENST00000391826.2	-	8	949	c.807G>T	c.(805-807)ctG>ctT	p.L269L	IL4I1_ENST00000595948.1_Silent_p.L291L|IL4I1_ENST00000341114.3_Silent_p.L291L|MIR4750_ENST00000584564.1_RNA	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	269						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GCGCGCGCGGCAGCAGGTCCC	0.721																																						uc002pqt.1		NaN																	0				lung(1)|ovary(1)|prostate(1)	3						c.(805-807)CTG>CTT		interleukin 4 induced 1 isoform 1 precursor							10.0	10.0	10.0					19																	50393824		2190	4273	6463	SO:0001819	synonymous_variant	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50393824C>A	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.807G>T	19.37:g.50393824C>A						IL4I1_uc002pqv.1_Silent_p.L278L|IL4I1_uc010eno.1_Silent_p.L277L|IL4I1_uc002pqw.1_Silent_p.L277L|IL4I1_uc002pqu.1_Silent_p.L291L	p.L269L	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	8	885	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	269					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	c.807G>T	CCDS12787.1																																																																																				0.721	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1				14	1	1	0	9.95505e-16	0.002299	1.10686e-15	14	1		
SYT3	84258	broad.mit.edu	37	19	51140567	51140567	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:51140567C>T	ENST00000338916.4	-	1	735	c.102G>A	c.(100-102)caG>caA	p.Q34Q	SYT3_ENST00000600079.1_Silent_p.Q34Q|SYT3_ENST00000544769.1_Silent_p.Q34Q|SYT3_ENST00000593901.1_Silent_p.Q34Q	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	34					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CATTGAACTCCTGGCACCTGT	0.627																																						uc002pst.2		NaN																	0				ovary(2)|breast(1)	3						c.(100-102)CAG>CAA		synaptotagmin III							69.0	66.0	67.0					19																	51140567		2203	4300	6503	SO:0001819	synonymous_variant	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51140567C>T	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.102G>A	19.37:g.51140567C>T						SYT3_uc002psv.2_Silent_p.Q34Q|SYT3_uc010ycd.1_Silent_p.Q34Q	p.Q34Q	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	1	736	-		all_neural(266;0.131)	34			Vesicular (Potential).		Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	c.102G>A	CCDS12798.1																																																																																				0.627	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1		NM_032298		130	3	0	0	0	0.00361	0	130	3		
SHANK1	50944	broad.mit.edu	37	19	51205873	51205873	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:51205873C>T	ENST00000293441.1	-	11	1616	c.1598G>A	c.(1597-1599)gGc>gAc	p.G533D	SHANK1_ENST00000359082.3_Missense_Mutation_p.G533D|SHANK1_ENST00000391814.1_Missense_Mutation_p.G533D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	533					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCCCCTGAGCCCCCCGTGCC	0.716																																						uc002psx.1		NaN																	0				large_intestine(2)	2						c.(1597-1599)GGC>GAC		SH3 and multiple ankyrin repeat domains 1							8.0	9.0	8.0					19																	51205873		2185	4256	6441	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51205873C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1598G>A	19.37:g.51205873C>T	ENSP00000293441:p.Gly533Asp						p.G533D	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	11	1617	-		all_neural(266;0.057)	533					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.1598G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	c	16.49	3.138749	0.56936	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.40225	1.17;1.15;1.04	4.08	2.93	0.34026	.	1.682240	0.05115	U	0.489523	T	0.28896	0.0717	N	0.08118	0	0.31967	N	0.607675	P	0.47409	0.895	P	0.47044	0.535	T	0.17167	-1.0378	10	0.11794	T	0.64	-9.2101	8.9623	0.35854	0.0:0.7717:0.2282:0.0	.	533	Q9Y566	SHAN1_HUMAN	D	533	ENSP00000293441:G533D;ENSP00000351984:G533D;ENSP00000375690:G533D	ENSP00000293441:G533D	G	-	2	0	SHANK1	55897685	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.339000	0.52135	2.217000	0.71921	0.455000	0.32223	GGC		0.716	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1		NM_016148		6	0	0	0	0	0.004482	0	6	0		
ACPT	93650	broad.mit.edu	37	19	51298162	51298162	+	Missense_Mutation	SNP	C	C	T	rs140557537	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:51298162C>T	ENST00000270593.1	+	10	1106	c.1106C>T	c.(1105-1107)gCc>gTc	p.A369V	ACPT_ENST00000270594.3_Missense_Mutation_p.A276V|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	369						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ACTGCCCCGGCCCGGCCTCCC	0.692													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14198	0.0		0.0	False		,,,				2504	0.0					uc002pta.1		NaN																	0					0						c.(1105-1107)GCC>GTC		testicular acid phosphatase precursor		C	VAL/ALA	13,4393	20.2+/-43.8	0,13,2190	55.0	68.0	64.0		1106	2.3	0.8	19	dbSNP_134	64	0,8596		0,0,4298	no	missense	ACPT	NM_033068.2	64	0,13,6488	TT,TC,CC		0.0,0.2951,0.1	benign	369/427	51298162	13,12989	2203	4298	6501	SO:0001583	missense	93650					integral to membrane	acid phosphatase activity	g.chr19:51298162C>T	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.1106C>T	19.37:g.51298162C>T	ENSP00000270593:p.Ala369Val						p.A369V	NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	10	1106	+		all_neural(266;0.057)	369			Extracellular (Potential).		C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	ENST00000270593.1	37	c.1106C>T	CCDS12802.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	1.630	-0.519145	0.04171	0.002951	0.0	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.76316	2.35;-1.01	4.56	2.26	0.28386	.	0.302208	0.27354	N	0.019752	T	0.47116	0.1428	N	0.04203	-0.255	0.18873	N	0.999989	B	0.22080	0.064	B	0.15484	0.013	T	0.40232	-0.9574	10	0.02654	T	1	-3.8556	7.2514	0.26152	0.0:0.7563:0.0:0.2437	.	369	Q9BZG2	PPAT_HUMAN	V	369;276	ENSP00000270593:A369V;ENSP00000270594:A276V	ENSP00000270593:A369V	A	+	2	0	ACPT	55989974	0.250000	0.23951	0.803000	0.32268	0.023000	0.10783	1.058000	0.30504	0.966000	0.38159	-0.367000	0.07326	GCC		0.692	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1		NM_033068		241	3	0	0	0	0.00361	0	241	3		
ZNF528	84436	broad.mit.edu	37	19	52918824	52918824	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:52918824C>T	ENST00000360465.3	+	7	1145	c.719C>T	c.(718-720)cCt>cTt	p.P240L	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GGAGAGAAGCCTTACAAATGT	0.388																																						uc002pzh.2		NaN																	0				ovary(1)|skin(1)	2						c.(718-720)CCT>CTT		zinc finger protein 528							89.0	86.0	87.0					19																	52918824		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52918824C>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.719C>T	19.37:g.52918824C>T	ENSP00000353652:p.Pro240Leu					ZNF528_uc002pzi.2_Missense_Mutation_p.P7L	p.P240L	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1145	+			240					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.719C>T	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041398	0.55003	.	.	ENSG00000167555	ENST00000360465	T	0.27557	1.66	1.82	0.714	0.18180	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42810	0.1219	L	0.55990	1.75	0.34313	D	0.685728	D	0.71674	0.998	D	0.67103	0.949	T	0.52320	-0.8591	9	0.56958	D	0.05	.	7.0442	0.25037	0.0:0.8414:0.0:0.1586	.	240	Q3MIS6	ZN528_HUMAN	L	240	ENSP00000353652:P240L	ENSP00000353652:P240L	P	+	2	0	ZNF528	57610636	0.000000	0.05858	0.024000	0.17045	0.265000	0.26407	-0.028000	0.12350	0.091000	0.17302	0.467000	0.42956	CCT		0.388	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1		NM_032423		9	55	0	0	0	0.010729	0	9	55		
ZNF578	147660	broad.mit.edu	37	19	53014565	53014565	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53014565G>A	ENST00000421239.2	+	6	1175	c.931G>A	c.(931-933)Ggt>Agt	p.G311S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTCACACTGGTGAGAAACC	0.418																																						uc002pzp.3		NaN																	0					0						c.(931-933)GGT>AGT		zinc finger protein 578							104.0	107.0	106.0					19																	53014565		2203	4300	6503	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014565G>A	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.931G>A	19.37:g.53014565G>A	ENSP00000459216:p.Gly311Ser						p.G311S	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1175	+			86					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.931G>A	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	16.30	3.084506	0.55861	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.37	1.37	0.22104	.	.	.	.	.	T	0.26048	0.0635	L	0.41492	1.28	0.22827	N	0.998689	P	0.37708	0.606	B	0.37833	0.259	T	0.12218	-1.0556	7	.	.	.	.	5.0884	0.14694	0.2005:0.0:0.7995:0.0	.	311	G3V4F6	.	S	311	.	.	G	+	1	0	ZNF578	57706377	0.608000	0.26966	0.249000	0.24280	0.125000	0.20455	3.734000	0.55037	0.767000	0.33267	0.297000	0.19635	GGT		0.418	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3		NM_152472		3	126	0	0	0	0.004672	0	3	126		
ZNF578	147660	broad.mit.edu	37	19	53014626	53014626	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53014626C>G	ENST00000421239.2	+	6	1236	c.992C>G	c.(991-993)aCa>aGa	p.T331R	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCATCCCTTACATGCCATCAT	0.423																																						uc002pzp.3		NaN																	0					0						c.(991-993)ACA>AGA		zinc finger protein 578							114.0	116.0	115.0					19																	53014626		2200	4300	6500	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014626C>G	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.992C>G	19.37:g.53014626C>G	ENSP00000459216:p.Thr331Arg						p.T331R	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1236	+			106			C2H2-type 4.		B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.992C>G	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	1.766	-0.485687	0.04352	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	-1.55	0.08558	.	.	.	.	.	T	0.09113	0.0225	N	0.03177	-0.4	0.09310	N	1	P	0.35944	0.529	B	0.23716	0.048	T	0.27502	-1.0072	7	.	.	.	.	6.1483	0.20298	0.0:0.3446:0.0:0.6554	.	331	G3V4F6	.	R	331	.	.	T	+	2	0	ZNF578	57706438	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.152000	0.00581	-0.492000	0.06687	0.297000	0.19635	ACA		0.423	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3		NM_152472		3	132	0	0	0	0.009096	0	3	132		
ZNF808	388558	broad.mit.edu	37	19	53057047	53057047	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53057047G>C	ENST00000359798.4	+	5	1058	c.878G>C	c.(877-879)gGa>gCa	p.G293A		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AAAGAGTGTGGAAAGTCCTTC	0.408																																						uc010epq.1		NaN																	0					0						c.(877-879)GGA>GCA		zinc finger protein 808							144.0	145.0	144.0					19																	53057047		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53057047G>C	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.878G>C	19.37:g.53057047G>C	ENSP00000352846:p.Gly293Ala					ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	p.G293A	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	1055	+			293			C2H2-type 3.		Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.878G>C	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	12.25	1.880883	0.33255	.	.	ENSG00000198482	ENST00000359798	T	0.07114	3.22	1.53	1.53	0.23141	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18882	0.0453	L	0.52011	1.625	0.21325	N	0.999724	D	0.69078	0.997	D	0.65010	0.931	T	0.06373	-1.0830	9	0.56958	D	0.05	.	10.0475	0.42195	0.0:0.0:1.0:0.0	.	293	Q8N4W9	ZN808_HUMAN	A	293	ENSP00000352846:G293A	ENSP00000352846:G293A	G	+	2	0	ZNF808	57748859	0.867000	0.29959	0.001000	0.08648	0.004000	0.04260	0.977000	0.29475	0.835000	0.34877	0.298000	0.19748	GGA		0.408	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3		NM_001039886		4	180	0	0	0	0.001168	0	4	180		
VN1R4	317703	broad.mit.edu	37	19	53770252	53770252	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53770252G>T	ENST00000311170.4	-	1	720	c.667C>A	c.(667-669)Ccc>Acc	p.P223T	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	223					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GAGGCTCTGGGGGAGAGATTG	0.537										HNSCC(26;0.072)																												uc010ydu.1		NaN																	0				ovary(2)	2						c.(667-669)CCC>ACC		vomeronasal 1 receptor 4							42.0	37.0	38.0					19																	53770252		2203	4299	6502	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770252G>T	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.667C>A	19.37:g.53770252G>T	ENSP00000310856:p.Pro223Thr	HNSCC(26;0.072)					p.P223T	NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	667	-			223			Cytoplasmic (Potential).		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.667C>A	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	G	3.202	-0.163461	0.06502	.	.	ENSG00000228567	ENST00000311170	T	0.35789	1.29	2.28	-1.41	0.08941	GPCR, rhodopsin-like superfamily (1);	0.731382	0.11254	N	0.583333	T	0.31136	0.0787	M	0.66506	2.035	0.09310	N	1	B	0.28998	0.23	B	0.33799	0.17	T	0.33904	-0.9850	10	0.31617	T	0.26	.	2.7687	0.05328	0.3265:0.2523:0.4213:0.0	.	223	Q7Z5H5	VN1R4_HUMAN	T	223	ENSP00000310856:P223T	ENSP00000310856:P223T	P	-	1	0	VN1R4	58462064	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.447000	0.06828	-0.213000	0.10094	-0.281000	0.10026	CCC		0.537	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1		NM_173857		21	2	1	0	7.92952e-12	0.003954	8.58709e-12	21	2		
ZNF761	388561	broad.mit.edu	37	19	53958879	53958879	+	RNA	SNP	A	A	G	rs543658141		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53958879A>G	ENST00000454407.1	+	0	1571							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACATGCCATCATAGACTTCAT	0.428													N|||	1	0.000199681	0.0	0.0	5008	,	,		23718	0.0		0.0	False		,,,				2504	0.001					uc010eqp.2		NaN																	0				ovary(1)	1						c.(1117-1119)CAT>CGT		zinc finger protein 761							165.0	164.0	164.0					19																	53958879		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958879A>G	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958879A>G						ZNF761_uc010ydy.1_Missense_Mutation_p.H319R|ZNF761_uc002qbt.1_Missense_Mutation_p.H319R	p.H373R	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	1576	+			373			C2H2-type 6.		Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.1118A>G																																																																																					0.428	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript			NM_001008401		10	288	0	0	0	0.001368	0	10	288		
LILRA4	23547	broad.mit.edu	37	19	54848849	54848849	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:54848849C>T	ENST00000291759.4	-	5	830	c.774G>A	c.(772-774)gaG>gaA	p.E258E	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	258	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CATCGGCCCCCTCCTTGTACA	0.677																																						uc002qfj.2		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(772-774)GAG>GAA		leukocyte immunoglobulin-like receptor subfamily							23.0	27.0	26.0					19																	54848849		2203	4298	6501	SO:0001819	synonymous_variant	23547					integral to membrane	receptor activity	g.chr19:54848849C>T	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.774G>A	19.37:g.54848849C>T						LILRA4_uc002qfi.2_Silent_p.E192E	p.E258E	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	5	831	-	Ovarian(34;0.19)		258			Extracellular (Potential).|Ig-like C2-type 3.		Q32MC4	Silent	SNP	ENST00000291759.4	37	c.774G>A	CCDS12890.1																																																																																				0.677	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2		NM_012276		34	1	0	0	0	0.00623	0	34	1		
PTPRH	5794	broad.mit.edu	37	19	55718252	55718252	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:55718252G>T	ENST00000376350.3	-	3	179	c.157C>A	c.(157-159)Ccc>Acc	p.P53T	PTPRH_ENST00000263434.5_Missense_Mutation_p.P53T|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	53	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGGCCATCGGGGACCTCCCAG	0.567																																						uc002qjq.2		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(157-159)CCC>ACC		protein tyrosine phosphatase, receptor type, H							103.0	87.0	92.0					19																	55718252		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55718252G>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.157C>A	19.37:g.55718252G>T	ENSP00000365528:p.Pro53Thr					PTPRH_uc010esv.2_Missense_Mutation_p.P53T|PTPRH_uc002qjs.2_Missense_Mutation_p.P60T	p.P53T	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	3	230	-		Renal(1328;0.245)	53			Extracellular (Potential).|Fibronectin type-III 1.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.157C>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991524	0.54041	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.64991	-0.02;-0.13	3.85	3.85	0.44370	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.256767	0.20571	N	0.089732	T	0.76615	0.4012	M	0.83012	2.62	0.09310	N	1	D;D	0.63046	0.992;0.992	P;P	0.62649	0.822;0.905	T	0.67507	-0.5653	10	0.56958	D	0.05	.	11.5723	0.50841	0.0:0.0:1.0:0.0	.	53;53	C9JCH2;Q9HD43	.;PTPRH_HUMAN	T	53	ENSP00000365528:P53T;ENSP00000263434:P53T	ENSP00000263434:P53T	P	-	1	0	PTPRH	60410064	0.244000	0.23889	0.004000	0.12327	0.001000	0.01503	4.350000	0.59392	2.453000	0.82957	0.561000	0.74099	CCC		0.567	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1				53	2	1	0	5.12918e-33	0.00361	6.02475e-33	53	2		
ZNF776	284309	broad.mit.edu	37	19	58265844	58265844	+	Missense_Mutation	SNP	A	A	G	rs201940964		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:58265844A>G	ENST00000317178.5	+	3	1609	c.1346A>G	c.(1345-1347)cAa>cGa	p.Q449R	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		AGTCTCATTCAACATCAGCAG	0.448																																						uc002qpx.2		NaN																	0				ovary(1)	1						c.(1345-1347)CAA>CGA		zinc finger protein 776							140.0	127.0	131.0					19																	58265844		2203	4300	6503	SO:0001583	missense	284309				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58265844A>G	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1346A>G	19.37:g.58265844A>G	ENSP00000321812:p.Gln449Arg					ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.Q449R	p.Q449R	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	1569	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	449			C2H2-type 9.		Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	c.1346A>G	CCDS12962.2	4	0.0018315018315018315	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	A	7.481	0.648680	0.14516	.	.	ENSG00000152443	ENST00000317178	T	0.11495	2.77	1.97	-3.95	0.04118	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	N	0.01535	-0.81	0.09310	N	1	B;D	0.53619	0.051;0.961	B;P	0.49752	0.016;0.621	T	0.15578	-1.0432	9	0.14252	T	0.57	.	4.2945	0.10895	0.1652:0.0:0.359:0.4758	.	449;449	Q68DI1;B4DSC6	ZN776_HUMAN;.	R	449	ENSP00000321812:Q449R	ENSP00000321812:Q449R	Q	+	2	0	ZNF776	62957656	0.000000	0.05858	0.000000	0.03702	0.953000	0.61014	-7.081000	0.00045	-1.126000	0.02929	0.260000	0.18958	CAA		0.448	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2		NM_173632		4	133	0	0	0	0.000602	0	4	133		
ZNF776	284309	broad.mit.edu	37	19	58265857	58265857	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:58265857C>T	ENST00000317178.5	+	3	1622	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ATCAGCAGATCCACTCTGGAG	0.453																																						uc002qpx.2		NaN																	0				ovary(1)	1						c.(1357-1359)ATC>ATT		zinc finger protein 776							137.0	123.0	128.0					19																	58265857		2203	4300	6503	SO:0001819	synonymous_variant	284309				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58265857C>T	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1359C>T	19.37:g.58265857C>T						ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Silent_p.I453I	p.I453I	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	1582	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	453			C2H2-type 9.		Q6ZS36|Q8N968	Silent	SNP	ENST00000317178.5	37	c.1359C>T	CCDS12962.2																																																																																				0.453	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2		NM_173632		4	121	0	0	0	0.000602	0	4	121		
ROCK2	9475	broad.mit.edu	37	2	11333916	11333916	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:11333916T>C	ENST00000315872.6	-	30	4124	c.3676A>G	c.(3676-3678)Agg>Ggg	p.R1226G	ROCK2_ENST00000401753.1_Missense_Mutation_p.R983G	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1226	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGGAATATCCTTGGAATTTCT	0.299																																						uc002rbd.1		NaN																	0				stomach(2)|skin(2)	4						c.(3676-3678)AGG>GGG		Rho-associated, coiled-coil containing protein							83.0	78.0	80.0					2																	11333916		1823	4080	5903	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11333916T>C	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3676A>G	2.37:g.11333916T>C	ENSP00000317985:p.Arg1226Gly						p.R1226G	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	30	4125	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1226			PH.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.3676A>G	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023076	0.75275	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.17054	2.3;2.3	5.75	5.75	0.90469	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.42630	0.1211	M	0.80616	2.505	0.49389	D	0.999786	D	0.76494	0.999	D	0.78314	0.991	T	0.35599	-0.9782	10	0.49607	T	0.09	.	11.9649	0.53029	0.0:0.0:0.1447:0.8553	.	1226	O75116	ROCK2_HUMAN	G	1226;983;584	ENSP00000317985:R1226G;ENSP00000385509:R983G	ENSP00000317985:R1226G	R	-	1	2	ROCK2	11251367	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.953000	0.63624	2.196000	0.70406	0.402000	0.26972	AGG		0.299	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3				15	30	0	0	0	0.00333	0	15	30		
ITSN2	50618	broad.mit.edu	37	2	24535214	24535214	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:24535214C>G	ENST00000355123.4	-	5	662	c.219G>C	c.(217-219)aaG>aaC	p.K73N	ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000361999.3_Missense_Mutation_p.K73N|ITSN2_ENST00000406921.3_Missense_Mutation_p.K73N	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	73	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGATCCATCTTCCCATCCT	0.453																																						uc002rfe.2		NaN																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(217-219)AAG>AAC		intersectin 2 isoform 1							203.0	167.0	179.0					2																	24535214		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24535214C>G	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.219G>C	2.37:g.24535214C>G	ENSP00000347244:p.Lys73Asn					ITSN2_uc002rff.2_Missense_Mutation_p.K73N|ITSN2_uc002rfg.2_Missense_Mutation_p.K73N|ITSN2_uc010eyd.2_Missense_Mutation_p.K73N	p.K73N	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			5	477	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		73			EH 1.|Potential.|EF-hand 1.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.219G>C	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414964	0.62511	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011;ENST00000443927	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.07	2.32	0.28847	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.38548	U	0.001655	T	0.52451	0.1735	M	0.81497	2.545	0.48452	D	0.999659	D;D;D;D	0.89917	1.0;1.0;1.0;0.99	D;D;D;D	0.91635	0.999;0.999;0.999;0.986	T	0.51949	-0.8640	10	0.87932	D	0	.	8.304	0.32032	0.0:0.6268:0.0:0.3732	.	73;73;73;73	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	N	73;73;73;72;73;73;59	ENSP00000354561:K73N;ENSP00000347244:K73N;ENSP00000370250:K73N;ENSP00000384499:K73N;ENSP00000391224:K73N;ENSP00000391715:K59N	ENSP00000347244:K73N	K	-	3	2	ITSN2	24388718	0.995000	0.38212	1.000000	0.80357	0.988000	0.76386	0.403000	0.20982	0.423000	0.26033	-0.136000	0.14681	AAG		0.453	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277		35	137	0	0	0	0.00361	0	35	137		
EPT1	85465	broad.mit.edu	37	2	26587758	26587758	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:26587758T>A	ENST00000260585.7	+	3	304	c.185T>A	c.(184-186)gTa>gAa	p.V62E		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	62					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)										CTGCTGGTCGTATTCAATTTT	0.303																																						uc010ykz.1		NaN																	0					0						c.(184-186)GTA>GAA		selenoprotein I							99.0	90.0	93.0					2																	26587758		1804	4061	5865	SO:0001583	missense	85465				phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding	g.chr2:26587758T>A		CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"""selenoprotein I"""	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.185T>A	2.37:g.26587758T>A	ENSP00000260585:p.Val62Glu					EPT1_uc010eyl.1_RNA	p.V62E	NM_033505	NP_277040	Q9C0D9	EPT1_HUMAN			3	332	+			62			Helical; (Potential).		Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	c.185T>A	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.602012	0.87055	.	.	ENSG00000138018	ENST00000442141;ENST00000260585;ENST00000447170	T;T	0.48522	0.81;0.81	5.96	5.96	0.96718	.	0.101878	0.64402	D	0.000003	T	0.73418	0.3584	M	0.91459	3.21	0.80722	D	1	D	0.63046	0.992	P	0.62885	0.908	T	0.80204	-0.1479	10	0.87932	D	0	-13.9104	15.2725	0.73717	0.0:0.0:0.0:1.0	.	62	Q9C0D9	EPT1_HUMAN	E	30;62;62	ENSP00000415280:V30E;ENSP00000260585:V62E	ENSP00000260585:V62E	V	+	2	0	EPT1	26441262	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.272000	0.78516	2.285000	0.76669	0.533000	0.62120	GTA		0.303	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3		NM_033505.2		26	17	0	0	0	0.00623	0	26	17		
CAD	790	broad.mit.edu	37	2	27448663	27448663	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:27448663A>G	ENST00000403525.1	+	12	1855	c.1711A>G	c.(1711-1713)Agg>Ggg	p.R571G	CAD_ENST00000264705.4_Missense_Mutation_p.R571G			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCTCTAACAGGGAGGAGCT	0.597																																						uc002rji.2		NaN																	0				ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(1711-1713)AGG>GGG		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						117.0	114.0	115.0					2																	27448663		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27448663A>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1711A>G	2.37:g.27448663A>G	ENSP00000384510:p.Arg571Gly					CAD_uc010eyw.2_Missense_Mutation_p.R571G	p.R571G	NM_004341	NP_004332	P27708	PYR1_HUMAN			12	1873	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		571			CPSase (Carbamoyl-phosphate synthase).|CPSase A.|ATP-grasp 1.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.1711A>G		.	.	.	.	.	.	.	.	.	.	A	13.41	2.228194	0.39399	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97089	-4.24;-4.24	5.65	4.43	0.53597	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.486738	0.23288	N	0.049833	D	0.95692	0.8599	M	0.76433	2.335	0.30131	N	0.804836	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	D	0.93778	0.7081	10	0.62326	D	0.03	-2.2249	11.1849	0.48650	0.7721:0.2278:0.0:0.0	.	571;571	F8VPD4;P27708	.;PYR1_HUMAN	G	571	ENSP00000264705:R571G;ENSP00000384510:R571G	ENSP00000264705:R571G	R	+	1	2	CAD	27302167	0.211000	0.23529	0.973000	0.42090	0.775000	0.43874	1.036000	0.30228	2.167000	0.68274	0.374000	0.22700	AGG		0.597	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1				42	18	0	0	0	0.00361	0	42	18		
SLC30A3	7781	broad.mit.edu	37	2	27480167	27480167	+	Missense_Mutation	SNP	C	C	T	rs375191770		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:27480167C>T	ENST00000233535.4	-	5	984	c.632G>A	c.(631-633)gGa>gAa	p.G211E	SLC30A3_ENST00000447008.2_Missense_Mutation_p.G206E	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	211					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACTCTGCTCCCCTAGACCC	0.677																																						uc002rjk.2		NaN																	0					0						c.(631-633)GGA>GAA		solute carrier family 30 (zinc transporter),		C	GLU/GLY	0,4406		0,0,2203	22.0	24.0	23.0		632	5.2	0.9	2		23	1,8599		0,1,4299	no	missense	SLC30A3	NM_003459.4	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	211/389	27480167	1,13005	2203	4300	6503	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27480167C>T	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.632G>A	2.37:g.27480167C>T	ENSP00000233535:p.Gly211Glu					SLC30A3_uc002rjj.2_Missense_Mutation_p.E57K|SLC30A3_uc010ylh.1_Missense_Mutation_p.G206E	p.G211E	NM_003459	NP_003450	Q99726	ZNT3_HUMAN			5	818	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		211			Cytoplasmic (Potential).		Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.632G>A	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	5.493	0.275914	0.10403	0.0	1.16E-4	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870;ENST00000432351;ENST00000426924	T;T;T;T	0.79352	-0.34;-0.34;-1.26;-1.25	5.23	5.23	0.72850	.	0.125473	0.56097	D	0.000037	T	0.72795	0.3505	L	0.40543	1.245	0.50467	D	0.999875	P;P	0.42248	0.594;0.774	B;P	0.44897	0.43;0.463	T	0.68089	-0.5501	10	0.10377	T	0.69	-19.6791	16.6802	0.85290	0.0:1.0:0.0:0.0	.	206;211	F5H3B7;Q99726	.;ZNT3_HUMAN	E	211;206;148;162;198	ENSP00000233535:G211E;ENSP00000415226:G206E;ENSP00000414320:G162E;ENSP00000393545:G198E	ENSP00000233535:G211E	G	-	2	0	SLC30A3	27333671	0.407000	0.25352	0.918000	0.36340	0.699000	0.40488	3.277000	0.51654	2.605000	0.88082	0.555000	0.69702	GGA		0.677	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2				4	11	0	0	0	0.001168	0	4	11		
ZNF512	84450	broad.mit.edu	37	2	27821096	27821096	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:27821096G>A	ENST00000355467.4	+	3	335	c.252G>A	c.(250-252)aaG>aaA	p.K84K	ZNF512_ENST00000379717.1_Silent_p.K83K|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000416005.2_Silent_p.K83K|ZNF512_ENST00000556601.1_5'UTR|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Silent_p.K7K	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	84					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(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GAAGAATCAAGCCAGCTGCTA	0.408																																						uc002rla.2		NaN																	0				ovary(1)	1						c.(250-252)AAG>AAA		zinc finger protein 512							103.0	89.0	94.0					2																	27821096		2203	4300	6503	SO:0001819	synonymous_variant	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27821096G>A	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.252G>A	2.37:g.27821096G>A						ZNF512_uc010ylv.1_Silent_p.K5K|ZNF512_uc010ylw.1_Silent_p.K83K|ZNF512_uc002rlb.2_Silent_p.K5K|ZNF512_uc010ylx.1_Silent_p.K5K|ZNF512_uc002rlc.2_Silent_p.K5K|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Silent_p.K5K	p.K84K	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN			3	339	+	Acute lymphoblastic leukemia(172;0.155)		84					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Silent	SNP	ENST00000355467.4	37	c.252G>A	CCDS1758.1																																																																																				0.408	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2		NM_032434		16	68	0	0	0	0.002299	0	16	68		
LTBP1	4052	broad.mit.edu	37	2	33589420	33589420	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:33589420A>G	ENST00000404816.2	+	30	4890	c.4537A>G	c.(4537-4539)Aac>Gac	p.N1513D	LTBP1_ENST00000407925.1_Missense_Mutation_p.N1187D|LTBP1_ENST00000272273.5_Missense_Mutation_p.N411D|LTBP1_ENST00000354476.3_Missense_Mutation_p.N1514D|LTBP1_ENST00000404525.1_Missense_Mutation_p.N1134D|LTBP1_ENST00000402934.1_Missense_Mutation_p.N1132D|LTBP1_ENST00000418533.2_Missense_Mutation_p.N1145D|LTBP1_ENST00000390003.4_Missense_Mutation_p.N1188D			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1513					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGCTGAGTCAAACGGTATGTT	0.398																																						uc002ros.2		NaN																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(4540-4542)AAC>GAC		latent transforming growth factor beta binding							80.0	75.0	76.0					2																	33589420		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33589420A>G		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4537A>G	2.37:g.33589420A>G	ENSP00000386043:p.Asn1513Asp					LTBP1_uc002rot.2_Missense_Mutation_p.N1188D|LTBP1_uc002rou.2_Missense_Mutation_p.N1187D|LTBP1_uc002rov.2_Missense_Mutation_p.N1134D|LTBP1_uc010ymz.1_Missense_Mutation_p.N1145D|LTBP1_uc010yna.1_Missense_Mutation_p.N1092D|LTBP1_uc010ynb.1_Missense_Mutation_p.N411D	p.N1514D	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			30	4540	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1513					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.4540A>G	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	A	2.374	-0.343707	0.05243	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	T;T;T;T;T;T;T;D	0.84442	-1.39;-1.37;-1.32;-1.28;-1.3;-1.29;-1.29;-1.85	5.12	4.05	0.47172	.	.	.	.	.	T	0.71290	0.3322	N	0.08118	0	0.26835	N	0.968505	B;B;B;B;B;B;B	0.24483	0.001;0.06;0.104;0.0;0.029;0.064;0.099	B;B;B;B;B;B;B	0.29440	0.003;0.047;0.022;0.001;0.046;0.068;0.102	T	0.57551	-0.7792	9	0.17832	T	0.49	.	11.2487	0.49013	0.7916:0.2084:0.0:0.0	.	411;1513;1145;1134;1187;1188;1514	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	D	1513;1514;1188;1145;1132;1134;1187;411	ENSP00000386043:N1513D;ENSP00000346467:N1514D;ENSP00000374653:N1188D;ENSP00000393057:N1145D;ENSP00000384373:N1132D;ENSP00000385359:N1134D;ENSP00000384091:N1187D;ENSP00000272273:N411D	ENSP00000272273:N411D	N	+	1	0	LTBP1	33442924	0.998000	0.40836	1.000000	0.80357	0.234000	0.25298	3.913000	0.56394	0.915000	0.36847	0.459000	0.35465	AAC		0.398	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2		NM_206943		14	7	0	0	0	0.00499	0	14	7		
EML4	27436	broad.mit.edu	37	2	42552634	42552634	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:42552634G>C	ENST00000318522.5	+	20	2444	c.2182G>C	c.(2182-2184)Gac>Cac	p.D728H	EML4_ENST00000402711.2_Missense_Mutation_p.D670H|EML4_ENST00000453191.2_5'UTR|EML4_ENST00000401738.3_Missense_Mutation_p.D739H	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	728					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CACACACCTTGACTGGTCCCC	0.328			T	ALK	NSCLC																																	uc002rsi.2		NaN		Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(246)	0				lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						c.(2182-2184)GAC>CAC		echinoderm microtubule associated protein like 4							51.0	48.0	49.0					2																	42552634		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42552634G>C	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2182G>C	2.37:g.42552634G>C	ENSP00000320663:p.Asp728His					EML4_uc010fap.2_Missense_Mutation_p.D670H|EML4_uc002rsj.2_Missense_Mutation_p.D417H|EML4_uc010faq.2_Missense_Mutation_p.D73H|EML4_uc010ynv.1_5'UTR	p.D728H	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN			20	2444	+			728			WD 8.		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.2182G>C	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918238	0.92249	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.61510	0.1;0.1;0.1	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77177	0.4092	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.78293	-0.2260	10	0.87932	D	0	-16.1568	19.918	0.97070	0.0:0.0:1.0:0.0	.	670;670;739;728	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	H	728;670;739	ENSP00000320663:D728H;ENSP00000385059:D670H;ENSP00000384939:D739H	ENSP00000320663:D728H	D	+	1	0	EML4	42406138	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.797000	0.99108	2.716000	0.92895	0.561000	0.74099	GAC		0.328	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3		NM_019063		3	10	0	0	0	0.000602	0	3	10		
CLHC1	130162	broad.mit.edu	37	2	55444968	55444968	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:55444968C>G	ENST00000401408.1	-	4	689	c.344G>C	c.(343-345)aGa>aCa	p.R115T	CLHC1_ENST00000406076.1_5'UTR|CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000494539.1_Intron|AC012358.7_ENST00000366153.2_RNA|CLHC1_ENST00000407122.1_Missense_Mutation_p.R115T	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	115																	TTGGATTGTTCTTTTCCTGTA	0.358																																						uc002ryi.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(343-345)AGA>ACA		hypothetical protein LOC130162 isoform 1							110.0	103.0	105.0					2																	55444968		2203	4299	6502	SO:0001583	missense	130162						binding	g.chr2:55444968C>G		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.344G>C	2.37:g.55444968C>G	ENSP00000384869:p.Arg115Thr					C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_5'UTR	p.R115T	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)		4	690	-			115					B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	c.344G>C	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206251	0.79127	.	.	ENSG00000162994	ENST00000407122;ENST00000401408	T;T	0.33654	1.4;1.4	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61608	-0.7028	10	0.87932	D	0	-27.8328	15.856	0.78977	0.1362:0.8637:0.0:0.0	.	115	Q8NHS4	CB063_HUMAN	T	115	ENSP00000385778:R115T;ENSP00000384869:R115T	ENSP00000384869:R115T	R	-	2	0	C2orf63	55298472	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	3.444000	0.52914	2.826000	0.97356	0.655000	0.94253	AGA		0.358	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4		NM_152385		4	15	0	0	0	0.001168	0	4	15		
USP34	9736	broad.mit.edu	37	2	61416073	61416073	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:61416073C>T	ENST00000398571.2	-	79	10081	c.10005G>A	c.(10003-10005)gaG>gaA	p.E3335E	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3335					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGGCTTCTTGCTCTTGGAGTG	0.413																																						uc002sbe.2		NaN																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(10003-10005)GAG>GAA		ubiquitin specific protease 34							154.0	137.0	142.0					2																	61416073		1859	4098	5957	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61416073C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10005G>A	2.37:g.61416073C>T						USP34_uc002sbd.2_Silent_p.E137E	p.E3335E	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		79	10027	-			3335					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.10005G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	.	2.767	-0.256482	0.05829	.	.	ENSG00000115464	ENST00000411912	.	.	.	5.64	3.51	0.40186	.	.	.	.	.	T	0.62270	0.2414	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60870	-0.7177	4	.	.	.	.	11.5589	0.50766	0.0:0.756:0.0:0.244	.	.	.	.	T	1012	.	.	A	-	1	0	USP34	61269577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.118000	0.31246	1.373000	0.46208	0.585000	0.79938	GCA		0.413	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4				28	21	0	0	0	0.012213	0	28	21		
ATP6V1B1	525	broad.mit.edu	37	2	71191936	71191936	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:71191936C>A	ENST00000234396.4	+	13	1392	c.1319C>A	c.(1318-1320)tCt>tAt	p.S440Y	RN7SL160P_ENST00000468558.2_RNA|AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.S423Y	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	440					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GCGCTCACCTCTGAGGACCTG	0.597											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002shj.2		NaN																	0				skin(1)	1						c.(1318-1320)TCT>TAT		ATPase, H+ transporting, lysosomal 56/58kDa, V1							58.0	54.0	55.0					2																	71191936		2203	4300	6503	SO:0001583	missense	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71191936C>A	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1319C>A	2.37:g.71191936C>A	ENSP00000234396:p.Ser440Tyr		OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1128	ATP6V1B1_uc010fdv.2_Missense_Mutation_p.S423Y|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.S398Y	p.S440Y	NM_001692	NP_001683	P15313	VATB1_HUMAN			13	1406	+			440					Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	c.1319C>A	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084680	0.55861	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314;ENST00000433895	T;T;T	0.77229	-1.08;-1.08;-1.08	3.85	3.85	0.44370	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (1);	0.000000	0.51477	D	0.000087	D	0.85660	0.5748	M	0.79123	2.44	0.53688	D	0.999978	B;B;B	0.29341	0.002;0.242;0.001	B;P;B	0.49361	0.02;0.608;0.012	D	0.87028	0.2133	10	0.66056	D	0.02	0.2601	13.3358	0.60516	0.0:1.0:0.0:0.0	.	415;423;440	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	Y	440;415;423;45	ENSP00000234396:S440Y;ENSP00000388353:S423Y;ENSP00000407840:S45Y	ENSP00000234396:S440Y	S	+	2	0	ATP6V1B1	71045444	0.556000	0.26538	0.807000	0.32361	0.989000	0.77384	5.783000	0.68982	1.983000	0.57843	0.455000	0.32223	TCT		0.597	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2		NM_001692		25	24	1	0	8.16721e-17	0.010818	9.15717e-17	25	24		
LRRTM4	80059	broad.mit.edu	37	2	77745525	77745525	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:77745525A>T	ENST00000409093.1	-	3	1806	c.1470T>A	c.(1468-1470)ccT>ccA	p.P490P	LRRTM4_ENST00000409088.3_Silent_p.P490P|LRRTM4_ENST00000409911.1_Silent_p.P491P|LRRTM4_ENST00000409282.1_Silent_p.P491P|LRRTM4_ENST00000409884.1_Silent_p.P490P			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	490					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CAGAGTTTGTAGGCTTGTAGT	0.468																																						uc002snr.2		NaN																	0				pancreas(3)|ovary(1)	4						c.(1468-1470)CCT>CCA		leucine rich repeat transmembrane neuronal 4							90.0	89.0	89.0					2																	77745525		1879	4111	5990	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745525A>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1470T>A	2.37:g.77745525A>T						LRRTM4_uc002snq.2_Silent_p.P490P|LRRTM4_uc002sns.2_Silent_p.P490P|LRRTM4_uc002snt.2_Silent_p.P491P	p.P490P	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1885	-			490			Cytoplasmic (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1470T>A	CCDS46346.1																																																																																				0.468	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1		NM_024993		27	15	0	0	0	0.003755	0	27	15		
LRRTM4	80059	broad.mit.edu	37	2	77746266	77746266	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:77746266G>A	ENST00000409093.1	-	3	1065	c.729C>T	c.(727-729)tcC>tcT	p.S243S	LRRTM4_ENST00000409088.3_Silent_p.S243S|LRRTM4_ENST00000409911.1_Silent_p.S244S|LRRTM4_ENST00000409282.1_Silent_p.S244S|LRRTM4_ENST00000409884.1_Silent_p.S243S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	243					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.S243S(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTTGGCTAATGGAGCGAATCC	0.448																																						uc002snr.2		NaN																	2	Substitution - coding silent(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(727-729)TCC>TCT		leucine rich repeat transmembrane neuronal 4							58.0	54.0	55.0					2																	77746266		1890	4099	5989	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77746266G>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.729C>T	2.37:g.77746266G>A						LRRTM4_uc002snq.2_Silent_p.S243S|LRRTM4_uc002sns.2_Silent_p.S243S|LRRTM4_uc002snt.2_Silent_p.S244S	p.S243S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1144	-			243			LRR 8.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.729C>T	CCDS46346.1																																																																																				0.448	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1		NM_024993		14	25	0	0	0	0.004007	0	14	25		
SMYD1	150572	broad.mit.edu	37	2	88405960	88405960	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:88405960C>A	ENST00000419482.2	+	8	1183	c.1098C>A	c.(1096-1098)gcC>gcA	p.A366A	SMYD1_ENST00000444564.2_Silent_p.A353A|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	366					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.A366A(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ACCTCCAGGCCTTTGAGGAGG	0.532																																						uc002ssr.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|lung(1)|skin(1)	4						c.(1096-1098)GCC>GCA		SET and MYND domain containing 1							155.0	128.0	137.0					2																	88405960		2203	4300	6503	SO:0001819	synonymous_variant	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88405960C>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1098C>A	2.37:g.88405960C>A						SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Silent_p.A62A	p.A366A	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			8	1100	+			366					A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	c.1098C>A	CCDS33240.1																																																																																				0.532	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2		XM_097915		26	39	1	0	8.16721e-17	0.010818	9.15717e-17	26	39		
CNGA3	1261	broad.mit.edu	37	2	98996644	98996644	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:98996644G>A	ENST00000272602.2	+	3	261	c.222G>A	c.(220-222)tcG>tcA	p.S74S	CNGA3_ENST00000436404.2_Silent_p.S74S|CNGA3_ENST00000409937.1_Silent_p.S78S|CNGA3_ENST00000393504.1_Silent_p.S74S			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	74					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.S74S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CCAGGCTGTCGCGCCTCATCT	0.602																																						uc002syt.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(220-222)TCG>TCA		cyclic nucleotide gated channel alpha 3 isoform							51.0	51.0	51.0					2																	98996644		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:98996644G>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.222G>A	2.37:g.98996644G>A						CNGA3_uc002syu.2_Silent_p.S74S|CNGA3_uc010fij.2_Silent_p.S78S	p.S74S	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			4	639	+			74					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.222G>A	CCDS2034.1																																																																																				0.602	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1		NM_001298		14	20	0	0	0	0.010504	0	14	20		
BUB1	699	broad.mit.edu	37	2	111423892	111423892	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:111423892T>G	ENST00000302759.6	-	9	1023	c.905A>C	c.(904-906)cAg>cCg	p.Q302P	BUB1_ENST00000535254.1_Missense_Mutation_p.Q282P|BUB1_ENST00000409311.1_Missense_Mutation_p.Q302P	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	302					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CTCCACCACCTGATGCAACTT	0.443																																						uc002tgc.2		NaN																	0				lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(904-906)CAG>CCG		budding uninhibited by benzimidazoles 1							161.0	143.0	149.0					2																	111423892		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111423892T>G	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.905A>C	2.37:g.111423892T>G	ENSP00000302530:p.Gln302Pro					BUB1_uc010yxh.1_Missense_Mutation_p.Q282P|BUB1_uc010fkb.2_Missense_Mutation_p.Q302P|BUB1_uc002tgd.2_Missense_Mutation_p.Q302P	p.Q302P	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	9	1017	-		Ovarian(717;0.0822)	302					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.905A>C	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.350942	0.61183	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.33438	2.17;1.41;2.43	5.82	3.39	0.38822	.	0.972123	0.08521	N	0.933458	T	0.30823	0.0777	L	0.47716	1.5	0.24650	N	0.993525	D;B;P	0.56035	0.974;0.006;0.867	P;B;B	0.48030	0.564;0.001;0.256	T	0.11421	-1.0588	10	0.25751	T	0.34	-4.7486	5.1222	0.14865	0.1585:0.0846:0.0:0.757	.	282;302;302	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	P	282;302;302;302	ENSP00000441013:Q282P;ENSP00000386701:Q302P;ENSP00000302530:Q302P	ENSP00000302530:Q302P	Q	-	2	0	BUB1	111140363	0.787000	0.28750	0.755000	0.31263	0.929000	0.56500	0.870000	0.28010	0.434000	0.26340	0.533000	0.62120	CAG		0.443	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1		NM_004336		18	19	0	0	0	0.008871	0	18	19		
SLC20A1	6574	broad.mit.edu	37	2	113420544	113420544	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:113420544C>G	ENST00000272542.3	+	11	2521	c.1982C>G	c.(1981-1983)tCt>tGt	p.S661C		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	661					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTCCCCATTTCTGGAGTTATC	0.458																																						uc002tib.2		NaN																	0				ovary(2)	2						c.(1981-1983)TCT>TGT		solute carrier family 20 (phosphate							192.0	182.0	186.0					2																	113420544		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113420544C>G		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1982C>G	2.37:g.113420544C>G	ENSP00000272542:p.Ser661Cys						p.S661C	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN			11	2428	+			661			Helical; (Potential).		Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.1982C>G	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540515	0.85917	.	.	ENSG00000144136	ENST00000272542	D	0.91996	-2.95	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.95255	0.8461	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95234	0.8345	10	0.87932	D	0	-17.7988	17.887	0.88858	0.0:1.0:0.0:0.0	.	661	Q8WUM9	S20A1_HUMAN	C	661	ENSP00000272542:S661C	ENSP00000272542:S661C	S	+	2	0	SLC20A1	113137015	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	TCT		0.458	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2		NM_005415		73	59	0	0	0	0.00361	0	73	59		
PTPN4	5775	broad.mit.edu	37	2	120639722	120639722	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:120639722C>G	ENST00000263708.2	+	7	1234	c.463C>G	c.(463-465)Cag>Gag	p.Q155E		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	155	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATTTGCTGTTCAGTGTAAGTA	0.358																																						uc002tmf.1		NaN																	0				ovary(2)	2						c.(463-465)CAG>GAG		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						163.0	161.0	162.0					2																	120639722		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120639722C>G		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.463C>G	2.37:g.120639722C>G	ENSP00000263708:p.Gln155Glu					PTPN4_uc010flj.1_5'UTR	p.Q155E	NM_002830	NP_002821	P29074	PTN4_HUMAN			7	1234	+			155			FERM.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.463C>G	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.616978	0.66672	.	.	ENSG00000088179	ENST00000263708	T	0.79749	-1.3	5.53	5.53	0.82687	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.112108	0.64402	D	0.000007	D	0.89880	0.6843	H	0.98646	4.29	0.80722	D	1	B	0.23806	0.091	B	0.30716	0.119	D	0.89889	0.4036	10	0.87932	D	0	.	17.6441	0.88144	0.0:1.0:0.0:0.0	.	155	P29074	PTN4_HUMAN	E	155	ENSP00000263708:Q155E	ENSP00000263708:Q155E	Q	+	1	0	PTPN4	120356192	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.276000	0.78559	2.585000	0.87301	0.460000	0.39030	CAG		0.358	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2				58	44	0	0	0	0.00361	0	58	44		
GLI2	2736	broad.mit.edu	37	2	121747231	121747231	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:121747231T>C	ENST00000452319.1	+	14	3801	c.3741T>C	c.(3739-3741)taT>taC	p.Y1247Y	GLI2_ENST00000361492.4_Silent_p.Y1247Y|GLI2_ENST00000314490.11_Intron					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)				ATGCCTGCTATGGCCAAGTCC	0.622																																						uc010flp.2		NaN																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(3739-3741)TAT>TAC		GLI-Kruppel family member GLI2							38.0	37.0	37.0					2																	121747231		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:121747231T>C		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.3741T>C	2.37:g.121747231T>C						GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Silent_p.Y919Y|GLI2_uc002tmu.3_Silent_p.Y902Y	p.Y1247Y	NM_005270	NP_005261	P10070	GLI2_HUMAN			13	3771	+	Renal(3;0.0496)	Prostate(154;0.0623)	1247						Silent	SNP	ENST00000452319.1	37	c.3741T>C	CCDS33283.1																																																																																				0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3		NM_005270		37	24	0	0	0	0.010771	0	37	24		
POTEF	728378	broad.mit.edu	37	2	130872849	130872849	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:130872849G>A	ENST00000409914.2	-	4	973	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L	POTEF_ENST00000360967.5_Silent_p.L192L|POTEF_ENST00000357462.5_Silent_p.L192L|POTEF_ENST00000361163.4_Silent_p.L192L	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	192					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTGTCCAGCAGGAGTTTTACT	0.428																																						uc010fmh.2		NaN																	0				skin(3)|ovary(2)	5						c.(574-576)CTG>TTG		prostate, ovary, testis expressed protein on							34.0	40.0	38.0					2																	130872849		1562	3124	4686	SO:0001819	synonymous_variant	728378					cell cortex	ATP binding	g.chr2:130872849G>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.574C>T	2.37:g.130872849G>A							p.L192L	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			4	974	-			192			ANK 1.		A6NC34	Silent	SNP	ENST00000409914.2	37	c.574C>T	CCDS46409.1																																																																																				0.428	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2		NM_001099771		26	81	0	0	0	0.00361	0	26	81		
RIF1	55183	broad.mit.edu	37	2	152330584	152330584	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:152330584C>G	ENST00000243326.5	+	34	7685	c.7202C>G	c.(7201-7203)tCa>tGa	p.S2401*	RIF1_ENST00000430328.2_Nonsense_Mutation_p.S2375*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.S2375*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.S2375*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.S2401*			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGACTTGTCTCAGGTATATTT	0.299																																						uc002txm.2		NaN																	0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(7201-7203)TCA>TGA		RAP1 interacting factor 1							70.0	78.0	76.0					2																	152330584		2203	4299	6502	SO:0001587	stop_gained	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152330584C>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.7202C>G	2.37:g.152330584C>G	ENSP00000243326:p.Ser2401*					RIF1_uc002txl.2_Nonsense_Mutation_p.S2375*|RIF1_uc002txn.2_Nonsense_Mutation_p.S2375*|RIF1_uc002txo.2_Nonsense_Mutation_p.S2375*|RIF1_uc002txp.2_RNA|uc010fnw.1_5'Flank	p.S2401*	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	35	7332	+			2401			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Nonsense_Mutation	SNP	ENST00000243326.5	37	c.7202C>G	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	36	5.931218	0.97116	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.	.	.	5.39	5.39	0.77823	.	0.439500	0.22553	N	0.058564	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.1147	19.1224	0.93369	0.0:1.0:0.0:0.0	.	.	.	.	X	2401;2375;2375;2401;2375	.	ENSP00000243326:S2401X	S	+	2	0	RIF1	152038830	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.189000	0.65098	2.699000	0.92147	0.591000	0.81541	TCA		0.299	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3				32	26	0	0	0	0.007835	0	32	26		
BAZ2B	29994	broad.mit.edu	37	2	160252303	160252303	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:160252303T>C	ENST00000392783.2	-	20	3547	c.3052A>G	c.(3052-3054)Atg>Gtg	p.M1018V	AC008277.1_ENST00000420020.1_RNA|AC008277.1_ENST00000608714.1_RNA|BAZ2B_ENST00000343439.5_Missense_Mutation_p.M918V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.M984V|AC008277.1_ENST00000594921.1_RNA|BAZ2B_ENST00000392782.1_Missense_Mutation_p.M982V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1018	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CGAGCTTCCATAGCTTTCATA	0.338																																						uc002uao.2		NaN																	0				ovary(3)|skin(1)	4						c.(3052-3054)ATG>GTG		bromodomain adjacent to zinc finger domain, 2B							79.0	73.0	75.0					2																	160252303		1832	4087	5919	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160252303T>C	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3052A>G	2.37:g.160252303T>C	ENSP00000376534:p.Met1018Val					BAZ2B_uc002uap.2_Missense_Mutation_p.M982V	p.M1018V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			20	3404	-			1018			Lys-rich.|Potential.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.3052A>G	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.879|6.879	0.531625|0.531625	0.13127|0.13127	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000294905	T;T;T;T|.	0.28666|.	1.6;2.02;1.6;4.36|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.150792|.	0.29987|.	U|.	0.010699|.	T|T	0.15089|0.15089	0.0364|0.0364	N|N	0.00926|0.00926	-1.1|-1.1	0.32792|0.32792	N|N	0.501018|0.501018	B;B|.	0.14805|.	0.0;0.011|.	B;B|.	0.10450|.	0.001;0.005|.	T|T	0.23440|0.23440	-1.0188|-1.0188	10|5	0.25751|.	T|.	0.34|.	-0.2951|-0.2951	10.1162|10.1162	0.42591|0.42591	0.0:0.0749:0.0:0.9251|0.0:0.0749:0.0:0.9251	.|.	982;1018|.	Q9UIF8-5;Q9UIF8|.	.;BAZ2B_HUMAN|.	V|C	982;1018;984;918|78	ENSP00000376533:M982V;ENSP00000376534:M1018V;ENSP00000348087:M984V;ENSP00000339670:M918V|.	ENSP00000339670:M918V|.	M|Y	-|-	1|2	0|0	BAZ2B|BAZ2B	159960549|159960549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.542000|3.542000	0.53625|0.53625	2.111000|2.111000	0.64477|0.64477	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.338	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2				5	12	0	0	0	0.00308	0	5	12		
FAP	2191	broad.mit.edu	37	2	163051256	163051256	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:163051256G>A	ENST00000188790.4	-	17	1612	c.1405C>T	c.(1405-1407)Cca>Tca	p.P469S	FAP_ENST00000443424.1_Missense_Mutation_p.P444S	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GGGATGCCTGGGCCTGTGGGC	0.438																																						uc002ucd.2		NaN																	0				ovary(3)	3						c.(1405-1407)CCA>TCA		fibroblast activation protein, alpha subunit							147.0	133.0	138.0					2																	163051256		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163051256G>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1405C>T	2.37:g.163051256G>A	ENSP00000188790:p.Pro469Ser					FAP_uc010fpc.2_Missense_Mutation_p.P18S|FAP_uc010zct.1_Missense_Mutation_p.P444S|FAP_uc010fpd.2_5'UTR	p.P469S	NM_004460	NP_004451	Q12884	SEPR_HUMAN			17	1613	-			469			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.1405C>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494175	0.85069	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.37058	1.22;1.22	5.86	5.86	0.93980	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68751	0.3035	M	0.88704	2.975	0.80722	D	1	P;D	0.76494	0.933;0.999	P;D	0.79784	0.897;0.993	T	0.72868	-0.4162	10	0.87932	D	0	-20.3553	20.1735	0.98170	0.0:0.0:1.0:0.0	.	444;469	B4DLR2;Q12884	.;SEPR_HUMAN	S	469;444	ENSP00000188790:P469S;ENSP00000411391:P444S	ENSP00000188790:P469S	P	-	1	0	FAP	162759502	1.000000	0.71417	0.730000	0.30809	0.047000	0.14425	6.441000	0.73439	2.937000	0.99478	0.650000	0.86243	CCA		0.438	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2				14	49	0	0	0	0.007413	0	14	49		
GCA	25801	broad.mit.edu	37	2	163213345	163213345	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:163213345C>T	ENST00000437150.2	+	5	545	c.384C>T	c.(382-384)ttC>ttT	p.F128F	GCA_ENST00000233612.4_Silent_p.F109F|GCA_ENST00000429691.2_Intron	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	128	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						AGGAAAACTTCATGACTGTTG	0.368																																						uc002ucg.2		NaN																	0					0						c.(382-384)TTC>TTT		grancalcin, EF-hand calcium binding protein							103.0	97.0	99.0					2																	163213345		2203	4300	6503	SO:0001819	synonymous_variant	25801				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	g.chr2:163213345C>T	M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"""EF-hand domain containing"""	15990	protein-coding gene	gene with protein product		607030	"""grancalcin, EF-hand calcium-binding protein"""			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.384C>T	2.37:g.163213345C>T						GCA_uc010zcu.1_Silent_p.F109F	p.F128F	NM_012198	NP_036330	P28676	GRAN_HUMAN			5	560	+			128			EF-hand 3.		B2R5X3|Q53TB5|Q59EP3	Silent	SNP	ENST00000437150.2	37	c.384C>T	CCDS2218.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318313	0.23994	.	.	ENSG00000115271	ENST00000414723	.	.	.	5.7	2.91	0.33838	.	.	.	.	.	T	0.59998	0.2235	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57940	-0.7724	4	.	.	.	.	10.5592	0.45135	0.0:0.7905:0.0:0.2095	.	.	.	.	L	41	.	.	S	+	2	0	GCA	162921591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.300000	0.33436	1.407000	0.46875	0.655000	0.94253	TCA		0.368	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3		NM_012198		46	22	0	0	0	0.00361	0	46	22		
SCN2A	6326	broad.mit.edu	37	2	166245291	166245291	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:166245291G>C	ENST00000375437.2	+	27	5265	c.4975G>C	c.(4975-4977)Gcg>Ccg	p.A1659P	SCN2A_ENST00000357398.3_Missense_Mutation_p.A1659P|SCN2A_ENST00000283256.6_Missense_Mutation_p.A1659P|SCN2A_ENST00000375427.2_Missense_Mutation_p.A1659P	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1659					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCCCTTCCTGCGTTGTTTAA	0.498																																						uc002udc.2		NaN																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(4975-4977)GCG>CCG		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						132.0	127.0	129.0					2																	166245291		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245291G>C	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4975G>C	2.37:g.166245291G>C	ENSP00000364586:p.Ala1659Pro					SCN2A_uc002udd.2_Missense_Mutation_p.A1659P|SCN2A_uc002ude.2_Missense_Mutation_p.A1659P	p.A1659P	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			27	5265	+			1659			IV.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4975G>C	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806330	0.70682	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07	5.38	5.38	0.77491	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99190	0.9719	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99723	1.1010	10	0.87932	D	0	.	19.545	0.95291	0.0:0.0:1.0:0.0	.	1659;1659	Q99250-2;Q99250	.;SCN2A_HUMAN	P	1659	ENSP00000364586:A1659P;ENSP00000349973:A1659P;ENSP00000283256:A1659P;ENSP00000364576:A1659P	ENSP00000283256:A1659P	A	+	1	0	SCN2A	165953537	1.000000	0.71417	0.955000	0.39395	0.922000	0.55478	9.810000	0.99221	2.691000	0.91804	0.552000	0.68991	GCG		0.498	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2		NM_021007		13	94	0	0	0	0.001855	0	13	94		
SCN2A	6326	broad.mit.edu	37	2	166246148	166246148	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:166246148C>A	ENST00000375437.2	+	27	6122	c.5832C>A	c.(5830-5832)ccC>ccA	p.P1944P	SCN2A_ENST00000357398.3_Silent_p.P1944P|SCN2A_ENST00000283256.6_Silent_p.P1944P|SCN2A_ENST00000375427.2_Silent_p.P1944P	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1944					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGAACACCCATCAAAGAAG	0.403																																						uc002udc.2		NaN																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(5830-5832)CCC>CCA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						73.0	70.0	71.0					2																	166246148		2203	4300	6503	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166246148C>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5832C>A	2.37:g.166246148C>A						SCN2A_uc002udd.2_Silent_p.P1944P|SCN2A_uc002ude.2_Silent_p.P1944P	p.P1944P	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			27	6122	+			1944					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.5832C>A	CCDS33314.1																																																																																				0.403	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2		NM_021007		35	13	1	0	5.2432e-18	0.00361	5.9186e-18	35	13		
SCN1A	6323	broad.mit.edu	37	2	166859238	166859238	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:166859238G>T	ENST00000303395.4	-	21	4027	c.4028C>A	c.(4027-4029)gCa>gAa	p.A1343E	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A1332E|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1315E|SCN1A_ENST00000423058.2_Missense_Mutation_p.A1343E			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1343					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGATGGAATTGCTCCTAAAAG	0.348																																						uc010zcz.1		NaN																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(3994-3996)GCA>GAA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						64.0	65.0	64.0					2																	166859238		2203	4299	6502	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166859238G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4028C>A	2.37:g.166859238G>T	ENSP00000303540:p.Ala1343Glu					SCN1A_uc002udo.3_Missense_Mutation_p.A1212E|SCN1A_uc010fpk.2_Missense_Mutation_p.A1184E	p.A1332E	NM_006920	NP_008851	P35498	SCN1A_HUMAN			21	4013	-			1343			III.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.3995C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390839	0.82902	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	5.29	5.29	0.74685	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99684	0.9881	H	0.99942	5.005	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	D;D;D	0.97110	0.924;0.998;1.0	D	0.96848	0.9623	10	0.87932	D	0	.	19.2814	0.94053	0.0:0.0:1.0:0.0	.	1332;1315;1343	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	E	1343;1343;1332;1315	ENSP00000407030:A1343E;ENSP00000303540:A1343E;ENSP00000364554:A1332E;ENSP00000386312:A1315E	ENSP00000303540:A1343E	A	-	2	0	SCN1A	166567484	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.806000	0.99153	2.618000	0.88619	0.491000	0.48974	GCA		0.348	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920		28	14	1	0	5.73237e-09	0.00623	6.05993e-09	28	14		
STK39	27347	broad.mit.edu	37	2	169020276	169020276	+	Missense_Mutation	SNP	T	T	C	rs201338418		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:169020276T>C	ENST00000355999.4	-	4	1250	c.545A>G	c.(544-546)tAt>tGt	p.Y182C		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TCTGTGTAGATAGTCTAAGCC	0.378																																						uc002uea.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(544-546)TAT>TGT		serine threonine kinase 39 (STE20/SPS1 homolog,							155.0	140.0	145.0					2																	169020276		1849	4092	5941	SO:0001583	missense	27347				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity	g.chr2:169020276T>C	AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.545A>G	2.37:g.169020276T>C	ENSP00000348278:p.Tyr182Cys						p.Y182C	NM_013233	NP_037365	Q9UEW8	STK39_HUMAN			4	705	-			182			Protein kinase.		O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Missense_Mutation	SNP	ENST00000355999.4	37	c.545A>G	CCDS42770.1	.	.	.	.	.	.	.	.	.	.	-	24.0	4.481085	0.84747	.	.	ENSG00000198648	ENST00000355999	T	0.75260	-0.92	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89556	0.3803	10	0.87932	D	0	-0.6197	16.5582	0.84512	0.0:0.0:0.0:1.0	.	182	Q9UEW8	STK39_HUMAN	C	182	ENSP00000348278:Y182C	ENSP00000348278:Y182C	Y	-	2	0	STK39	168728522	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.960000	0.70348	2.308000	0.77769	0.533000	0.62120	TAT		0.378	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258112.2		NM_013233		4	35	0	0	0	0.009096	0	4	35		
LRP2	4036	broad.mit.edu	37	2	170060728	170060728	+	Missense_Mutation	SNP	T	T	A	rs368708131		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:170060728T>A	ENST00000263816.3	-	42	8054	c.7769A>T	c.(7768-7770)aAt>aTt	p.N2590I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2590					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AACGGCTGCATTGACAATGAC	0.418																																						uc002ues.2		NaN																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(7768-7770)AAT>ATT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						158.0	166.0	163.0					2																	170060728		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170060728T>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7769A>T	2.37:g.170060728T>A	ENSP00000263816:p.Asn2590Ile						p.N2590I	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	42	7982	-			2590			LDL-receptor class B 28.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7769A>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	9.766	1.171470	0.21621	.	.	ENSG00000081479	ENST00000263816	D	0.96200	-3.94	5.78	1.8	0.24995	Six-bladed beta-propeller, TolB-like (1);	0.205000	0.64402	N	0.000014	D	0.90858	0.7128	L	0.43646	1.37	0.80722	D	1	B	0.13145	0.007	B	0.14023	0.01	T	0.82818	-0.0269	10	0.54805	T	0.06	.	5.9303	0.19134	0.1324:0.6402:0.0:0.2274	.	2590	P98164	LRP2_HUMAN	I	2590	ENSP00000263816:N2590I	ENSP00000263816:N2590I	N	-	2	0	LRP2	169768974	0.998000	0.40836	0.004000	0.12327	0.021000	0.10359	0.750000	0.26334	0.033000	0.15463	-0.242000	0.12053	AAT		0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525		167	101	0	0	0	0.00361	0	167	101		
PDE11A	50940	broad.mit.edu	37	2	178684974	178684974	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:178684974T>C	ENST00000286063.6	-	7	1866	c.1549A>G	c.(1549-1551)Att>Gtt	p.I517V	PDE11A_ENST00000409504.1_Missense_Mutation_p.I159V|PDE11A_ENST00000449286.2_Missense_Mutation_p.I159V|PDE11A_ENST00000358450.4_Missense_Mutation_p.I267V|PDE11A_ENST00000389683.3_Missense_Mutation_p.I73V|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	517	GAF 2.				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)	CTATTCCAAATAGGGACACAA	0.294									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(1549-1551)ATT>GTT		phosphodiesterase 11A isoform 4							74.0	79.0	77.0					2																	178684974		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.chr2:178684974T>C	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.1549A>G	2.37:g.178684974T>C	ENSP00000286063:p.Ile517Val					PDE11A_uc002ulp.2_Missense_Mutation_p.I73V|PDE11A_uc002ulr.2_Missense_Mutation_p.I267V|PDE11A_uc002uls.1_Missense_Mutation_p.I159V|PDE11A_uc002ult.1_Missense_Mutation_p.I267V|PDE11A_uc002ulu.1_Missense_Mutation_p.I159V	p.I517V	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		7	1867	-			517			GAF 2.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.1549A>G	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861168	0.91433	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	5.75	5.75	0.90469	GAF (2);	0.000000	0.85682	D	0.000000	T	0.80686	0.4670	L	0.50919	1.6	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.87578	0.995;0.998	T	0.82454	-0.0449	10	0.87932	D	0	.	15.0449	0.71819	0.0:0.0:0.0:1.0	.	267;517	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	V	517;267;159;73;159	ENSP00000286063:I517V;ENSP00000351232:I267V;ENSP00000386539:I159V;ENSP00000374333:I73V;ENSP00000390599:I159V	ENSP00000286063:I517V	I	-	1	0	PDE11A	178393220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.548000	0.82154	2.195000	0.70347	0.533000	0.62120	ATT		0.294	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2				29	16	0	0	0	0.010771	0	29	16		
TTN	7273	broad.mit.edu	37	2	179396043	179396043	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179396043G>A	ENST00000591111.1	-	308	100600	c.100376C>T	c.(100375-100377)gCa>gTa	p.A33459V	TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A32532V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A26227V|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A26160V|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A26035V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A35100V			Q8WZ42	TITIN_HUMAN	titin	33459					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGCAGATGCAGAGTGTTC	0.408																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(97594-97596)GCA>GTA		titin isoform N2-A							112.0	115.0	114.0					2																	179396043		1888	4117	6005	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179396043G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100376C>T	2.37:g.179396043G>A	ENSP00000465570:p.Ala33459Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A26227V|TTN_uc010zfi.1_Missense_Mutation_p.A26160V|TTN_uc010zfj.1_Missense_Mutation_p.A26035V|TTN_uc002umq.2_5'Flank	p.A32532V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	97819	-			33459					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.97595C>T		.	.	.	.	.	.	.	.	.	.	G	11.57	1.678341	0.29783	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65178	-0.14;0.12;0.1;0.09	5.32	3.45	0.39498	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.45236	0.1332	N	0.14661	0.345	0.18873	N	0.999983	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.40757	-0.9546	9	0.87932	D	0	.	10.4362	0.44437	0.071:0.0:0.7951:0.1339	.	26035;26160;26227;33459	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	32532;26035;26227;26160;26032	ENSP00000343764:A32532V;ENSP00000434586:A26035V;ENSP00000340554:A26227V;ENSP00000352154:A26160V	ENSP00000340554:A26227V	A	-	2	0	TTN	179104289	0.947000	0.32204	0.018000	0.16275	0.883000	0.51084	4.208000	0.58486	0.566000	0.29273	0.555000	0.69702	GCA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		32	10	0	0	0	0.004878	0	32	10		
TTN	7273	broad.mit.edu	37	2	179428076	179428076	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179428076T>A	ENST00000591111.1	-	276	78084	c.77860A>T	c.(77860-77862)Att>Ttt	p.I25954F	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I25027F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I18722F|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I18655F|TTN_ENST00000460472.2_Missense_Mutation_p.I18530F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I27595F			Q8WZ42	TITIN_HUMAN	titin	25954	Fibronectin type-III 89. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATCATAAATTGGCTTACTC	0.507																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(75079-75081)ATT>TTT		titin isoform N2-A							71.0	69.0	70.0					2																	179428076		2024	4202	6226	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428076T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77860A>T	2.37:g.179428076T>A	ENSP00000465570:p.Ile25954Phe					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I18722F|TTN_uc010zfi.1_Missense_Mutation_p.I18655F|TTN_uc010zfj.1_Missense_Mutation_p.I18530F	p.I25027F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	75303	-			25954					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.75079A>T		.	.	.	.	.	.	.	.	.	.	T	15.82	2.946751	0.53186	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.85	2.11	0.27256	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61489	0.2351	M	0.86953	2.85	0.44966	D	0.997983	P;P;P;P	0.51147	0.942;0.901;0.942;0.901	P;P;P;P	0.49047	0.599;0.599;0.599;0.599	T	0.62177	-0.6909	9	0.87932	D	0	.	7.2589	0.26191	0.0:0.129:0.1225:0.7485	.	18530;18655;18722;25954	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	25027;18530;18722;18655;18528	ENSP00000343764:I25027F;ENSP00000434586:I18530F;ENSP00000340554:I18722F;ENSP00000352154:I18655F	ENSP00000340554:I18722F	I	-	1	0	TTN	179136322	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	4.230000	0.58632	0.119000	0.18210	-0.371000	0.07208	ATT		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		10	22	0	0	0	0.001368	0	10	22		
TTN	7273	broad.mit.edu	37	2	179431369	179431369	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179431369A>G	ENST00000591111.1	-	276	74791	c.74567T>C	c.(74566-74568)gTa>gCa	p.V24856A	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23929A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17624A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17557A|TTN_ENST00000460472.2_Missense_Mutation_p.V17432A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V26497A			Q8WZ42	TITIN_HUMAN	titin	24856	Fibronectin type-III 81. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGGTGTCTACAATGTGTGC	0.443																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(71785-71787)GTA>GCA		titin isoform N2-A							212.0	211.0	211.0					2																	179431369		1870	4102	5972	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431369A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74567T>C	2.37:g.179431369A>G	ENSP00000465570:p.Val24856Ala					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V17624A|TTN_uc010zfi.1_Missense_Mutation_p.V17557A|TTN_uc010zfj.1_Missense_Mutation_p.V17432A	p.V23929A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	72010	-			24856					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.71786T>C		.	.	.	.	.	.	.	.	.	.	A	8.649	0.897844	0.17686	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.63	4.47	0.54385	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43678	0.1258	L	0.37561	1.115	0.38895	D	0.957203	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.13407	0.005;0.005;0.005;0.009	T	0.40040	-0.9584	9	0.87932	D	0	.	11.6273	0.51153	0.9302:0.0:0.0698:0.0	.	17432;17557;17624;24856	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	23929;17432;17624;17557;17430	ENSP00000343764:V23929A;ENSP00000434586:V17432A;ENSP00000340554:V17624A;ENSP00000352154:V17557A	ENSP00000340554:V17624A	V	-	2	0	TTN	179139615	1.000000	0.71417	0.547000	0.28179	0.723000	0.41478	5.286000	0.65639	0.954000	0.37851	-0.441000	0.05720	GTA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		57	165	0	0	0	0.00361	0	57	165		
TTN	7273	broad.mit.edu	37	2	179440159	179440159	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179440159T>C	ENST00000591111.1	-	276	66001	c.65777A>G	c.(65776-65778)tAt>tGt	p.Y21926C	RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y20999C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y14694C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y14627C|TTN_ENST00000460472.2_Missense_Mutation_p.Y14502C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y23567C			Q8WZ42	TITIN_HUMAN	titin	21926	Fibronectin type-III 59. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAATCACATAGCCAGTGAT	0.493																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(62995-62997)TAT>TGT		titin isoform N2-A							159.0	156.0	157.0					2																	179440159		2041	4209	6250	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440159T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65777A>G	2.37:g.179440159T>C	ENSP00000465570:p.Tyr21926Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y14694C|TTN_uc010zfi.1_Missense_Mutation_p.Y14627C|TTN_uc010zfj.1_Missense_Mutation_p.Y14502C	p.Y20999C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	63220	-			21926					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.62996A>G		.	.	.	.	.	.	.	.	.	.	T	12.32	1.903282	0.33628	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94535	0.8240	H	0.99582	4.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96991	0.9722	9	0.87932	D	0	.	15.7826	0.78272	0.0:0.0:0.0:1.0	.	14502;14627;14694;21926	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	20999;14502;14694;14627;14500	ENSP00000343764:Y20999C;ENSP00000434586:Y14502C;ENSP00000340554:Y14694C;ENSP00000352154:Y14627C	ENSP00000340554:Y14694C	Y	-	2	0	TTN	179148405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.142000	0.66516	0.477000	0.44152	TAT		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		20	40	0	0	0	0.002299	0	20	40		
TTN	7273	broad.mit.edu	37	2	179621183	179621183	+	Intron	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179621183C>T	ENST00000591111.1	-	44	10528				TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G3503S|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.G3674S			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCGTGTCACCGCACTTTACA	0.453																																						uc010zfh.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10507-10509)GGT>AGT		titin isoform novex-2							92.0	88.0	89.0					2																	179621183		1932	4121	6053	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179621183C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+2527G>A	2.37:g.179621183C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	p.G3503S	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10731	-			3517					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10507G>A		.	.	.	.	.	.	.	.	.	.	C	10.34	1.324444	0.24080	.	.	ENSG00000155657	ENST00000342175	T	0.81163	-1.46	5.95	3.21	0.36854	.	.	.	.	.	T	0.74816	0.3766	.	.	.	0.80722	D	1	B	0.17038	0.02	B	0.19946	0.027	T	0.69431	-0.5147	8	0.87932	D	0	.	11.6537	0.51304	0.0:0.8072:0.0:0.1928	.	3503	E7ET18	.	S	3503	ENSP00000340554:G3503S	ENSP00000340554:G3503S	G	-	1	0	TTN	179329428	0.415000	0.25416	0.001000	0.08648	0.005000	0.04900	1.881000	0.39638	0.424000	0.26061	0.650000	0.86243	GGT		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		22	8	0	0	0	0.00333	0	22	8		
HECW2	57520	broad.mit.edu	37	2	197183282	197183282	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:197183282T>A	ENST00000260983.3	-	9	2514	c.2332A>T	c.(2332-2334)Act>Tct	p.T778S	HECW2_ENST00000409111.1_Missense_Mutation_p.T422S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	778	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTACCTCCAGTAGCGCCCTCC	0.592																																						uc002utm.1		NaN																	0				skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(2332-2334)ACT>TCT		HECT, C2 and WW domain containing E3 ubiquitin							63.0	63.0	63.0					2																	197183282		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183282T>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2332A>T	2.37:g.197183282T>A	ENSP00000260983:p.Thr778Ser					HECW2_uc002utl.1_Missense_Mutation_p.T422S	p.T778S	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			9	2515	-			778			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.2332A>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	4.094	0.015475	0.07959	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.30981	1.51;1.53	4.91	1.26	0.21427	.	0.874126	0.10073	N	0.719469	T	0.17066	0.0410	N	0.24115	0.695	0.27233	N	0.959355	B	0.16603	0.018	B	0.14578	0.011	T	0.35624	-0.9781	10	0.08381	T	0.77	.	7.6811	0.28513	0.0:0.2395:0.0:0.7605	.	778	Q9P2P5	HECW2_HUMAN	S	422;778	ENSP00000386775:T422S;ENSP00000260983:T778S	ENSP00000260983:T778S	T	-	1	0	HECW2	196891527	0.017000	0.18338	0.123000	0.21794	0.759000	0.43091	0.593000	0.23999	0.066000	0.16515	0.374000	0.22700	ACT		0.592	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3		NM_020760		24	19	0	0	0	0.007291	0	24	19		
HSPE1	3336	broad.mit.edu	37	2	198367982	198367982	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:198367982G>A	ENST00000233893.5	+	4	751	c.308G>A	c.(307-309)tGa>tAa	p.*103*	HSPE1_ENST00000409468.1_3'UTR|HSPE1_ENST00000465573.1_3'UTR|HSPD1_ENST00000345042.2_5'Flank|HSPE1-MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409729.1_Silent_p.*48*	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			TACGTAGACTGAAATAAGTCA	0.328																																						uc002uul.2		NaN																	0					0						c.(307-309)TGA>TAA		heat shock 10kDa protein 1							114.0	118.0	116.0					2																	198367982		2203	4299	6502	SO:0001819	synonymous_variant	3336				activation of caspase activity|protein folding|response to unfolded protein	mitochondrial matrix	ATP binding|chaperone binding|unfolded protein binding	g.chr2:198367982G>A	AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"""Heat Shock Proteins / Chaperonins"""	5269	protein-coding gene	gene with protein product	"""chaperonin 10"""	600141	"""heat shock 10kD protein 1 (chaperonin 10)"""			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.308G>A	2.37:g.198367982G>A						HSPD1_uc002uuk.2_5'Flank	p.*103*	NM_002157	NP_002148	P61604	CH10_HUMAN	Epithelial(96;0.225)		4	748	+			103					O95421|Q04984|Q53X54|Q9UDH0	Silent	SNP	ENST00000233893.5	37	c.308G>A	CCDS2320.1																																																																																				0.328	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256112.1		NM_002157		38	9	0	0	0	0.00361	0	38	9		
ADAM23	8745	broad.mit.edu	37	2	207459510	207459510	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:207459510G>C	ENST00000264377.3	+	23	2456	c.2128G>C	c.(2128-2130)Gat>Cat	p.D710H	ADAM23_ENST00000374416.1_Missense_Mutation_p.D710H|ADAM23_ENST00000374415.3_Missense_Mutation_p.D710H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	710					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D710N(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CTATGTAGAAGATGGAACGCC	0.428																																					Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2		NaN																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(2128-2130)GAT>CAT		ADAM metallopeptidase domain 23 preproprotein							226.0	215.0	219.0					2																	207459510		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207459510G>C	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2128G>C	2.37:g.207459510G>C	ENSP00000264377:p.Asp710His					ADAM23_uc010ziv.1_RNA	p.D710H	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	23	2351	+			710			Extracellular (Potential).		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.2128G>C	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779639	0.90195	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.02579	4.25;4.24;4.24	5.91	5.91	0.95273	ADAM, cysteine-rich (1);	0.000000	0.64402	D	0.000004	T	0.21761	0.0524	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.00567	-1.1667	10	0.66056	D	0.02	.	19.2892	0.94092	0.0:0.0:1.0:0.0	.	710	O75077	ADA23_HUMAN	H	710;710;604;710	ENSP00000264377:D710H;ENSP00000363537:D710H;ENSP00000363536:D710H	ENSP00000264377:D710H	D	+	1	0	ADAM23	207167755	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.869000	0.99810	2.804000	0.96469	0.650000	0.86243	GAT		0.428	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2		NM_003812		42	25	0	0	0	0.00361	0	42	25		
USP37	57695	broad.mit.edu	37	2	219324581	219324581	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:219324581C>G	ENST00000258399.3	-	23	2987	c.2575G>C	c.(2575-2577)Gga>Cga	p.G859R	USP37_ENST00000454775.1_Missense_Mutation_p.G859R|USP37_ENST00000415516.1_Missense_Mutation_p.G765R|USP37_ENST00000418019.1_Missense_Mutation_p.G859R	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	859	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TCCTCATTTCCAGAGTCCTCA	0.378																																						uc002vie.2		NaN																	0				skin(3)|ovary(1)|prostate(1)	5						c.(2575-2577)GGA>CGA		ubiquitin specific peptidase 37							163.0	156.0	158.0					2																	219324581		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219324581C>G	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2575G>C	2.37:g.219324581C>G	ENSP00000258399:p.Gly859Arg					USP37_uc010fvs.1_Missense_Mutation_p.G859R|USP37_uc010zkf.1_Missense_Mutation_p.G859R|USP37_uc002vif.2_Missense_Mutation_p.G859R|USP37_uc002vig.2_Missense_Mutation_p.G765R	p.G859R	NM_020935	NP_065986	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	23	3028	-		Renal(207;0.0915)	859					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.2575G>C	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548518	0.86127	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.47869	0.85;0.85;0.83;0.85	4.6	4.6	0.57074	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	L	0.37800	1.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56232	-0.8013	10	0.33940	T	0.23	-16.3493	18.0291	0.89277	0.0:1.0:0.0:0.0	.	765;859	Q86T82-2;Q86T82	.;UBP37_HUMAN	R	859;859;765;859	ENSP00000258399:G859R;ENSP00000393662:G859R;ENSP00000400902:G765R;ENSP00000396585:G859R	ENSP00000258399:G859R	G	-	1	0	USP37	219032825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.500000	0.81588	2.552000	0.86080	0.650000	0.86243	GGA		0.378	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3		NM_020935		60	3	0	0	0	0.00361	0	60	3		
PAX3	5077	broad.mit.edu	37	2	223086063	223086063	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:223086063C>T	ENST00000350526.4	-	6	972	c.836G>A	c.(835-837)gGg>gAg	p.G279E	PAX3_ENST00000336840.6_Missense_Mutation_p.G279E|PAX3_ENST00000392069.2_Missense_Mutation_p.G279E|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392070.2_Missense_Mutation_p.G279E|PAX3_ENST00000409551.3_Missense_Mutation_p.G278E|PAX3_ENST00000344493.4_Missense_Mutation_p.G279E	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	279					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGATTGGCCCCAGCTTGCTT	0.473			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.2		NaN		Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	0				soft_tissue(761)|ovary(4)|skin(1)	766						c.(835-837)GGG>GAG		paired box 3 isoform PAX3							146.0	155.0	152.0					2																	223086063		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223086063C>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.836G>A	2.37:g.223086063C>T	ENSP00000343052:p.Gly279Glu					PAX3_uc002vmt.1_Missense_Mutation_p.G279E|PAX3_uc002vmy.1_Missense_Mutation_p.G278E|PAX3_uc002vmv.1_Missense_Mutation_p.G279E|PAX3_uc002vmw.1_Missense_Mutation_p.G279E|PAX3_uc002vmx.1_Missense_Mutation_p.G279E	p.G279E	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	1202	-		Renal(207;0.0183)	279					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.836G>A	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960149	0.92791	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551	D;D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66;-3.66	5.92	5.92	0.95590	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96405	0.8827	L	0.52011	1.625	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.971;0.999;1.0;0.999;1.0	D	0.95050	0.8186	10	0.35671	T	0.21	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	279;278;279;279;279	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	E	279;279;279;279;279;278	ENSP00000375921:G279E;ENSP00000342092:G279E;ENSP00000343052:G279E;ENSP00000375922:G279E;ENSP00000338767:G279E;ENSP00000386750:G278E	ENSP00000338767:G279E	G	-	2	0	PAX3	222794307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.813000	0.96785	0.561000	0.74099	GGG		0.473	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1				74	5	0	0	0	0.00361	0	74	5		
DAW1	164781	broad.mit.edu	37	2	228758558	228758558	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:228758558C>T	ENST00000309931.2	+	5	448	c.365C>T	c.(364-366)gCg>gTg	p.A122V	DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000373666.2_Missense_Mutation_p.A122V|DAW1_ENST00000545118.1_Missense_Mutation_p.A107V	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	122						cilium (GO:0005929)											TGGGACACTGCGTCTGGAGAG	0.468																																						uc002vpn.1		NaN																	0				breast(1)	1						c.(364-366)GCG>GTG		WD repeat domain 69							112.0	100.0	104.0					2																	228758558		2203	4300	6503	SO:0001583	missense	164781							g.chr2:228758558C>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.365C>T	2.37:g.228758558C>T	ENSP00000311899:p.Ala122Val					WDR69_uc010zlw.1_Missense_Mutation_p.A107V|WDR69_uc002vpo.1_RNA	p.A122V	NM_178821	NP_849143	Q8N136	WDR69_HUMAN		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)	5	444	+		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	122			WD 1.		Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.365C>T	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932612	0.34096	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	T;T;T	0.81247	-1.47;0.55;1.61	5.74	4.85	0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.231801	0.42964	D	0.000638	T	0.71281	0.3321	N	0.25789	0.76	0.22096	N	0.999361	B	0.22146	0.065	B	0.23419	0.046	T	0.59456	-0.7451	10	0.33141	T	0.24	.	15.3185	0.74102	0.0:0.8594:0.1406:0.0	.	122	Q8N136	WDR69_HUMAN	V	122;122;107	ENSP00000362770:A122V;ENSP00000311899:A122V;ENSP00000437887:A107V	ENSP00000311899:A122V	A	+	2	0	WDR69	228466802	0.998000	0.40836	0.006000	0.13384	0.436000	0.31835	4.167000	0.58209	1.374000	0.46228	0.650000	0.86243	GCG		0.468	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1		NM_178821		7	2	0	0	0	0.00308	0	7	2		
PSMD1	5707	broad.mit.edu	37	2	231927368	231927368	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:231927368G>A	ENST00000308696.6	+	4	445	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	PSMD1_ENST00000409643.1_Missense_Mutation_p.E95K|PSMD1_ENST00000373635.4_Missense_Mutation_p.E95K	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	95					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TGATAACTCTGAATATGTGGA	0.398																																						uc002vrn.1		NaN																	0				ovary(1)|skin(1)	2						c.(283-285)GAA>AAA		proteasome 26S non-ATPase subunit 1	Bortezomib(DB00188)						88.0	95.0	93.0					2																	231927368		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231927368G>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.283G>A	2.37:g.231927368G>A	ENSP00000309474:p.Glu95Lys					PSMD1_uc002vrm.1_Missense_Mutation_p.E95K|PSMD1_uc010fxu.1_Intron	p.E95K	NM_002807	NP_002798	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	4	414	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	95					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.283G>A	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	36	5.851215	0.97023	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	T;T;T	0.46451	0.87;0.87;0.87	5.98	5.98	0.97165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63058	0.2479	M	0.89785	3.06	0.80722	D	1	P;P	0.46784	0.884;0.824	P;B	0.47162	0.54;0.372	T	0.70375	-0.4889	10	0.66056	D	0.02	-2.0466	20.4352	0.99089	0.0:0.0:1.0:0.0	.	95;95	Q99460;Q99460-2	PSMD1_HUMAN;.	K	95	ENSP00000309474:E95K;ENSP00000362738:E95K;ENSP00000386932:E95K	ENSP00000309474:E95K	E	+	1	0	PSMD1	231635612	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	GAA		0.398	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2				20	3	0	0	0	0.003954	0	20	3		
HSPA12B	116835	broad.mit.edu	37	20	3730479	3730479	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:3730479C>T	ENST00000254963.2	+	10	1165	c.1020C>T	c.(1018-1020)ctC>ctT	p.L340L	HSPA12B_ENST00000542646.1_Silent_p.L174L	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	340							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						ATGGCACCCTCAAGGAGCTCT	0.746																																						uc002wjd.2		NaN																	0					0						c.(1018-1020)CTC>CTT		heat shock 70kD protein 12B							19.0	21.0	21.0					20																	3730479		2195	4291	6486	SO:0001819	synonymous_variant	116835						ATP binding	g.chr20:3730479C>T	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1020C>T	20.37:g.3730479C>T						HSPA12B_uc010zqi.1_Silent_p.L339L|HSPA12B_uc002wje.2_Silent_p.L253L|HSPA12B_uc010zqj.1_Silent_p.L174L	p.L340L	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN			10	1123	+			340					D3DVX7|Q2TAK3|Q9BR52	Silent	SNP	ENST00000254963.2	37	c.1020C>T	CCDS13061.1																																																																																				0.746	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2		NM_052970		4	13	0	0	0	0.009096	0	4	13		
SPTLC3	55304	broad.mit.edu	37	20	13052966	13052966	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:13052966C>G	ENST00000399002.2	+	3	640	c.366C>G	c.(364-366)atC>atG	p.I122M	SPTLC3_ENST00000378194.4_Missense_Mutation_p.I122M	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	122					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						ACATGCGAATCAGAGACAACT	0.433																																						uc002wod.1		NaN																	0					0						c.(364-366)ATC>ATG		serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)						184.0	188.0	187.0					20																	13052966		1816	4076	5892	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13052966C>G	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.366C>G	20.37:g.13052966C>G	ENSP00000381968:p.Ile122Met						p.I122M	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			3	655	+			122					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.366C>G	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176086	0.57692	.	.	ENSG00000172296	ENST00000434210;ENST00000399002;ENST00000378194;ENST00000450297	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.48	3.46	0.39613	.	0.281943	0.38164	N	0.001797	T	0.69433	0.3110	M	0.70275	2.135	0.44595	D	0.997567	B	0.30542	0.284	B	0.35114	0.196	T	0.71560	-0.4556	10	0.66056	D	0.02	-17.0871	9.8863	0.41264	0.4114:0.4799:0.1086:0.0	.	122	Q9NUV7	SPTC3_HUMAN	M	122;122;122;95	ENSP00000389749:I122M;ENSP00000381968:I122M;ENSP00000367436:I122M;ENSP00000409125:I95M	ENSP00000367436:I122M	I	+	3	3	SPTLC3	13000966	0.972000	0.33761	1.000000	0.80357	0.997000	0.91878	0.215000	0.17562	1.308000	0.44962	0.655000	0.94253	ATC		0.433	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1		NM_018327		34	83	0	0	0	0.00361	0	34	83		
ID1	3397	broad.mit.edu	37	20	30193268	30193268	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:30193268C>G	ENST00000376112.3	+	1	183	c.78C>G	c.(76-78)agC>agG	p.S26R	MIR3193_ENST00000578262.1_RNA|ID1_ENST00000376105.3_Missense_Mutation_p.S26R	NM_002165.3	NP_002156.2	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	26					angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|collagen metabolic process (GO:0032963)|endothelial cell morphogenesis (GO:0001886)|heart development (GO:0007507)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein destabilization (GO:0031648)|regulation of angiogenesis (GO:0045765)|regulation of MAPK cascade (GO:0043408)|response to antibiotic (GO:0046677)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGACAGCGAGCGGTGCGGGCG	0.726																																					NSCLC(123;1618 1779 21803 28680 33854)	uc002wwg.1		NaN																	0				ovary(1)	1						c.(76-78)AGC>AGG		inhibitor of DNA binding 1 isoform a							11.0	14.0	13.0					20																	30193268		2152	4195	6347	SO:0001583	missense	3397				angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding	g.chr20:30193268C>G		CCDS13185.1, CCDS13186.1	20q11	2013-05-21			ENSG00000125968	ENSG00000125968		"""Basic helix-loop-helix proteins"""	5360	protein-coding gene	gene with protein product	"""DNA-binding protein inhibitor ID-1"""	600349				8294468	Standard	NM_002165		Approved	dJ857M17.1.2, bHLHb24	uc002wwg.2	P41134	OTTHUMG00000032181	ENST00000376112.3:c.78C>G	20.37:g.30193268C>G	ENSP00000365280:p.Ser26Arg					ID1_uc002wwh.1_Missense_Mutation_p.S26R|hsa-mir-3193|MI0014238_5'Flank	p.S26R	NM_002165	NP_002156	P41134	ID1_HUMAN	Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		1	177	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		26					A8K537|E1P5L4|O00651|O00652|Q16371|Q16377|Q5TE66|Q5TE67|Q969Z7|Q9H0Z5|Q9H109	Missense_Mutation	SNP	ENST00000376112.3	37	c.78C>G	CCDS13185.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232492	0.39498	.	.	ENSG00000125968	ENST00000376112;ENST00000376105	T;T	0.44083	0.94;0.93	4.17	0.718	0.18202	.	0.410314	0.27231	N	0.020308	T	0.21468	0.0517	N	0.08118	0	0.22552	N	0.998999	B;B	0.26845	0.086;0.161	B;B	0.32583	0.035;0.148	T	0.24190	-1.0167	10	0.27082	T	0.32	-23.3706	8.8652	0.35282	0.2911:0.567:0.142:0.0	.	26;26	P41134-2;P41134	.;ID1_HUMAN	R	26	ENSP00000365280:S26R;ENSP00000365273:S26R	ENSP00000365273:S26R	S	+	3	2	ID1	29656929	0.999000	0.42202	1.000000	0.80357	0.924000	0.55760	0.219000	0.17641	0.449000	0.26747	0.561000	0.74099	AGC		0.726	ID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078550.1		NM_002165		6	15	0	0	0	0.001168	0	6	15		
CEP250	11190	broad.mit.edu	37	20	34057721	34057721	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:34057721C>G	ENST00000397527.1	+	10	1578	c.858C>G	c.(856-858)acC>acG	p.T286T	CEP250_ENST00000342580.4_Silent_p.T286T|CEP250_ENST00000397524.1_Silent_p.T286T	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	286					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TTAGGGTGACCGAGCTCTCTG	0.512																																						uc002xcm.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(856-858)ACC>ACG		centrosomal protein 2							90.0	77.0	81.0					20																	34057721		2203	4300	6503	SO:0001819	synonymous_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34057721C>G	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.858C>G	20.37:g.34057721C>G						CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_Silent_p.T93T	p.T286T	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		11	1529	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		286			Potential.		E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	c.858C>G	CCDS13255.1																																																																																				0.512	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7		NM_007186		5	27	0	0	0	0.001168	0	5	27		
FITM2	128486	broad.mit.edu	37	20	42935833	42935833	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:42935833G>C	ENST00000396825.3	-	2	241	c.221C>G	c.(220-222)cCt>cGt	p.P74R		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	74					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						GGCAATGAAAGGCAGAAGGAG	0.577																																						uc002xlr.1		NaN																	0				skin(2)	2						c.(220-222)CCT>CGT		fat storage-inducing transmembrane protein 2							58.0	50.0	53.0					20																	42935833		2203	4300	6503	SO:0001583	missense	128486				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane		g.chr20:42935833G>C	BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"""fat inducing transcript 2"""	612029	"""chromosome 20 open reading frame 142"""	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.221C>G	20.37:g.42935833G>C	ENSP00000380037:p.Pro74Arg						p.P74R	NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN			2	322	-			74			Helical; (Potential).		A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Missense_Mutation	SNP	ENST00000396825.3	37	c.221C>G	CCDS33473.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635824	0.87760	.	.	ENSG00000197296	ENST00000396825	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.84270	0.5435	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81176	-0.1052	9	0.25106	T	0.35	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	74	Q8N6M3	FITM2_HUMAN	R	74	.	ENSP00000380037:P74R	P	-	2	0	FITM2	42369247	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.441000	0.97557	2.788000	0.95919	0.650000	0.86243	CCT		0.577	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2		XM_371399		24	8	0	0	0	0.005443	0	24	8		
TTPAL	79183	broad.mit.edu	37	20	43115337	43115337	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:43115337A>T	ENST00000372904.3	+	5	884	c.741A>T	c.(739-741)atA>atT	p.I247I	TTPAL_ENST00000372906.2_Intron|TTPAL_ENST00000262605.4_Silent_p.I247I	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	247	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AGGAGAAAATAGCAAACAGAG	0.348																																						uc002xmc.1		NaN																	0				breast(1)	1						c.(739-741)ATA>ATT		tocopherol (alpha) transfer protein-like							68.0	65.0	66.0					20																	43115337		2203	4300	6503	SO:0001819	synonymous_variant	79183					intracellular	transporter activity	g.chr20:43115337A>T	BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 121"""	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.741A>T	20.37:g.43115337A>T						TTPAL_uc002xmd.1_Silent_p.I247I|TTPAL_uc010ggr.1_Silent_p.I60I	p.I247I	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN			5	865	+			247			CRAL-TRIO.		E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Silent	SNP	ENST00000372904.3	37	c.741A>T	CCDS13332.2																																																																																				0.348	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2		NM_024331		5	8	0	0	0	0.000602	0	5	8		
ZSWIM1	90204	broad.mit.edu	37	20	44511647	44511647	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:44511647G>T	ENST00000372523.1	+	2	511	c.416G>T	c.(415-417)tGg>tTg	p.W139L	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.W139L	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	139						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				AATCCAGCATGGGAGAGAGTC	0.527																																						uc010ghi.2		NaN																	0				skin(1)	1						c.(415-417)TGG>TTG		zinc finger, SWIM-type containing 1							122.0	111.0	115.0					20																	44511647		2203	4300	6503	SO:0001583	missense	90204						zinc ion binding	g.chr20:44511647G>T	AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"""Zinc fingers, SWIM-type"""	16155	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 162"""	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.416G>T	20.37:g.44511647G>T	ENSP00000361601:p.Trp139Leu					ZSWIM1_uc010zxh.1_Missense_Mutation_p.W12L	p.W139L	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN			2	529	+		Myeloproliferative disorder(115;0.028)	139					Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	ENST00000372523.1	37	c.416G>T	CCDS13382.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947344	0.73672	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.27104	1.69;1.69	5.38	5.38	0.77491	.	0.000000	0.47852	U	0.000206	T	0.52901	0.1763	M	0.73962	2.25	0.49389	D	0.999782	D	0.89917	1.0	D	0.85130	0.997	T	0.44620	-0.9316	10	0.37606	T	0.19	-3.9994	18.926	0.92544	0.0:0.0:1.0:0.0	.	139	Q9BR11	ZSWM1_HUMAN	L	139	ENSP00000361601:W139L;ENSP00000361598:W139L	ENSP00000361598:W139L	W	+	2	0	ZSWIM1	43945054	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.775000	0.68915	2.793000	0.96121	0.655000	0.94253	TGG		0.527	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2		NM_080603		23	69	1	0	7.92952e-12	0.003954	8.58709e-12	23	69		
CD40	958	broad.mit.edu	37	20	44751393	44751393	+	Missense_Mutation	SNP	T	T	C	rs371997367		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:44751393T>C	ENST00000372285.3	+	4	473	c.401T>C	c.(400-402)aTt>aCt	p.I134T	CD40_ENST00000372276.3_Missense_Mutation_p.I134T|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	134					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				GTCAAGCAGATTGGTAAGTGG	0.597									Immune Deficiency with Hyper-IgM																													uc002xrg.1		NaN																	0				lung(1)|skin(1)	2						c.(400-402)ATT>ACT		CD40 antigen isoform 1 precursor	Simvastatin(DB00641)		THR/ILE,THR/ILE	0,4406		0,0,2203	69.0	65.0	67.0		401,401	1.7	0.5	20		67	1,8599		0,1,4299	no	missense,missense	CD40	NM_152854.2,NM_001250.4	89,89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	134/204,134/278	44751393	1,13005	2203	4300	6503	SO:0001583	missense	958	Immune_Deficiency_with_Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44751393T>C	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.401T>C	20.37:g.44751393T>C	ENSP00000361359:p.Ile134Thr					CD40_uc002xrf.1_Missense_Mutation_p.I134T|CD40_uc002xrh.1_Missense_Mutation_p.I134T|CD40_uc002xri.1_Missense_Mutation_p.I134T|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA	p.I134T	NM_001250	NP_001241	P25942	TNR5_HUMAN			4	478	+		Myeloproliferative disorder(115;0.0122)	134			Extracellular (Potential).|TNFR-Cys 3.		E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Missense_Mutation	SNP	ENST00000372285.3	37	c.401T>C	CCDS13393.1	.	.	.	.	.	.	.	.	.	.	t	3.105	-0.183885	0.06340	0.0	1.16E-4	ENSG00000101017	ENST00000372285;ENST00000372276	T;T	0.60797	0.16;0.16	4.05	1.73	0.24493	TNFR/CD27/30/40/95 cysteine-rich region (2);	1.344640	0.05099	N	0.486742	T	0.31482	0.0798	N	0.11927	0.2	0.09310	N	1	P;B;B;B	0.38922	0.651;0.013;0.006;0.031	B;B;B;B	0.32677	0.15;0.02;0.005;0.01	T	0.20974	-1.0259	10	0.13853	T	0.58	-0.0319	3.0109	0.06044	0.2132:0.117:0.0:0.6698	.	117;134;134;134	Q09LL4;P25942-2;P25942;Q6P2H9	.;.;TNR5_HUMAN;.	T	134	ENSP00000361359:I134T;ENSP00000361350:I134T	ENSP00000361350:I134T	I	+	2	0	CD40	44184800	0.000000	0.05858	0.453000	0.27007	0.569000	0.35902	-0.018000	0.12568	0.683000	0.31428	0.468000	0.43344	ATT		0.597	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1		NM_001250		57	22	0	0	0	0.00361	0	57	22		
ZNF334	55713	broad.mit.edu	37	20	45130608	45130608	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:45130608C>A	ENST00000347606.4	-	5	1552	c.1370G>T	c.(1369-1371)gGa>gTa	p.G457V	ZNF334_ENST00000457685.2_Missense_Mutation_p.G419V|ZNF334_ENST00000593880.1_Missense_Mutation_p.G480V	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGACTTCTTTCCTCTATGAGT	0.388																																						uc002xsc.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1369-1371)GGA>GTA		zinc finger protein 334 isoform a							102.0	101.0	101.0					20																	45130608		2203	4299	6502	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130608C>A	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1370G>T	20.37:g.45130608C>A	ENSP00000255129:p.Gly457Val					ZNF334_uc002xsa.2_Missense_Mutation_p.G480V|ZNF334_uc002xsb.2_Missense_Mutation_p.G419V|ZNF334_uc002xsd.2_Missense_Mutation_p.G419V|ZNF334_uc010ghl.2_Missense_Mutation_p.G456V	p.G457V	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN			5	1554	-		Myeloproliferative disorder(115;0.0122)	457					Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.1370G>T	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217833	0.39201	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.36520	1.25;1.25	3.32	3.32	0.38043	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51517	0.1679	M	0.83012	2.62	0.58432	D	0.999992	D;D;D	0.57571	0.98;0.958;0.958	P;B;B	0.51918	0.684;0.354;0.354	T	0.62774	-0.6783	9	0.87932	D	0	.	12.501	0.55955	0.0:1.0:0.0:0.0	.	419;457;480	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	V	419;457	ENSP00000402582:G419V;ENSP00000255129:G457V	ENSP00000255129:G457V	G	-	2	0	ZNF334	44564015	0.059000	0.20769	0.386000	0.26170	0.831000	0.47069	1.696000	0.37773	1.844000	0.53588	0.491000	0.48974	GGA		0.388	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1				13	63	1	0	1.3612e-06	0.003163	1.41429e-06	13	63		
TSHZ2	128553	broad.mit.edu	37	20	51873094	51873094	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:51873094G>A	ENST00000371497.5	+	2	3984	c.3097G>A	c.(3097-3099)Gaa>Aaa	p.E1033K	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.E1030K|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E1030K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1033					multicellular organismal development (GO:0007275)|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(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGACGTGGATGAAGAATAGCT	0.493																																						uc002xwo.2		NaN																	0				ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(3097-3099)GAA>AAA		teashirt zinc finger homeobox 2							126.0	124.0	124.0					20																	51873094		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51873094G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.3097G>A	20.37:g.51873094G>A	ENSP00000360552:p.Glu1033Lys						p.E1033K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	4053	+			1033					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.3097G>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	5.253	0.232215	0.09969	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.12879	2.64;2.65	5.53	5.53	0.82687	.	0.097205	0.64402	D	0.000001	T	0.02688	0.0081	N	0.00051	-2.4	0.47819	D	0.999525	B	0.17465	0.022	B	0.12837	0.008	T	0.50474	-0.8824	10	0.02654	T	1	0.3404	19.4601	0.94914	0.0:0.0:1.0:0.0	.	1033	Q9NRE2	TSH2_HUMAN	K	1033;1030	ENSP00000360552:E1033K;ENSP00000333114:E1030K	ENSP00000333114:E1030K	E	+	1	0	TSHZ2	51306501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.385000	0.79763	2.603000	0.88011	0.643000	0.83706	GAA		0.493	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6		NM_173485		85	41	0	0	0	0.00361	0	85	41		
CYP24A1	1591	broad.mit.edu	37	20	52788149	52788149	+	Silent	SNP	C	C	A	rs569376598		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:52788149C>A	ENST00000216862.3	-	3	903	c.510G>T	c.(508-510)ggG>ggT	p.G170G	CYP24A1_ENST00000395955.3_Silent_p.G170G|CYP24A1_ENST00000395954.3_Silent_p.G28G	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	170					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCATCACTTCCCCTGGTTTCA	0.507																																						uc002xwv.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(508-510)GGG>GGT		cytochrome P450 family 24 subfamily A	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						192.0	193.0	193.0					20																	52788149		2203	4300	6503	SO:0001819	synonymous_variant	1591				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52788149C>A	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.510G>T	20.37:g.52788149C>A						CYP24A1_uc002xwu.1_Silent_p.G28G|CYP24A1_uc002xww.2_Silent_p.G170G	p.G170G	NM_000782	NP_000773	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		3	908	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		170					Q15807|Q32ML3|Q5I2W7	Silent	SNP	ENST00000216862.3	37	c.510G>T	CCDS33491.1																																																																																				0.507	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2				29	153	1	0	2.80507e-11	0.012213	3.03276e-11	29	153		
NTSR1	4923	broad.mit.edu	37	20	61341220	61341220	+	Missense_Mutation	SNP	G	G	A	rs143560266	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:61341220G>A	ENST00000370501.3	+	1	1032	c.661G>A	c.(661-663)Ggc>Agc	p.G221S		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	221					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCACGCCGGCGGCCTGGTGTG	0.672													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15894	0.0		0.0	False		,,,				2504	0.0				GBM(37;400 780 6403 19663 35669)	uc002ydf.2		NaN																	0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(661-663)GGC>AGC		neurotensin receptor 1		G	SER/GLY	6,4386		0,6,2190	23.0	22.0	22.0		661	2.1	0.6	20	dbSNP_134	22	0,8582		0,0,4291	yes	missense	NTSR1	NM_002531.2	56	0,6,6481	AA,AG,GG		0.0,0.1366,0.0462	benign	221/419	61341220	6,12968	2196	4291	6487	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61341220G>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.661G>A	20.37:g.61341220G>A	ENSP00000359532:p.Gly221Ser						p.G221S	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	1032	+	Breast(26;3.65e-08)		221			Extracellular (Potential).		Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.661G>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	G	3.373	-0.128040	0.06753	0.001366	0.0	ENSG00000101188	ENST00000370501	T	0.37235	1.21	5.15	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	0.265032	0.37012	N	0.002297	T	0.06462	0.0166	N	0.00313	-1.665	0.21473	N	0.999678	B	0.24882	0.113	B	0.17722	0.019	T	0.38156	-0.9674	10	0.02654	T	1	-35.4936	4.3889	0.11330	0.2521:0.0:0.5013:0.2466	.	221	P30989	NTR1_HUMAN	S	221	ENSP00000359532:G221S	ENSP00000359532:G221S	G	+	1	0	NTSR1	60811665	0.958000	0.32768	0.593000	0.28771	0.481000	0.33189	2.029000	0.41098	0.577000	0.29470	0.561000	0.74099	GGC		0.672	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1				30	15	0	0	0	0.010771	0	30	15		
TPTE	7179	broad.mit.edu	37	21	10951423	10951423	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:10951423A>T	ENST00000361285.4	-	10	618	c.289T>A	c.(289-291)Ttt>Att	p.F97I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.F79I|TPTE_ENST00000342420.5_Missense_Mutation_p.F59I	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	97					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAAACTCCAAATAGTCTAaaa	0.338																																						uc002yip.1		NaN																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(289-291)TTT>ATT		transmembrane phosphatase with tensin homology							87.0	92.0	90.0					21																	10951423		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951423A>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.289T>A	21.37:g.10951423A>T	ENSP00000355208:p.Phe97Ile					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.F79I|TPTE_uc002yir.1_Missense_Mutation_p.F59I|TPTE_uc010gkv.1_5'UTR	p.F97I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	10	657	-			97			Helical; (Potential).		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.289T>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	16.14	3.038024	0.54896	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.97455	-4.39;-4.39;-4.39	1.8	1.8	0.24995	.	0.000000	0.85682	U	0.000000	D	0.96793	0.8953	L	0.49778	1.585	0.50313	D	0.999863	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.996;0.991	D	0.95253	0.8361	10	0.87932	D	0	-21.9358	5.6804	0.17771	1.0:0.0:0.0:0.0	.	59;79;97	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	79;97;59;79	ENSP00000298232:F79I;ENSP00000355208:F97I;ENSP00000344441:F59I	ENSP00000298232:F79I	F	-	1	0	TPTE	9973294	1.000000	0.71417	0.711000	0.30485	0.075000	0.17131	2.908000	0.48750	1.084000	0.41184	0.163000	0.16589	TTT		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1				3	42	0	0	0	0.009096	0	3	42		
KRTAP22-1	337979	broad.mit.edu	37	21	31973522	31973522	+	Missense_Mutation	SNP	G	G	A	rs202217523		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:31973522G>A	ENST00000334680.2	+	1	109	c.83G>A	c.(82-84)gGc>gAc	p.G28D	KRTAP6-2_ENST00000334897.3_5'Flank	NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	28						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						GGTCTTAGCGGCTATGGCTAT	0.488																																						uc011add.1		NaN																	0					0						c.(82-84)GGC>GAC		keratin associated protein 22-1							192.0	174.0	180.0					21																	31973522		2203	4300	6503	SO:0001583	missense	337979					intermediate filament		g.chr21:31973522G>A	AP001708	CCDS13601.1	21q22.1	2011-02-10			ENSG00000186924	ENSG00000186924		"""Keratin associated proteins"""	18947	protein-coding gene	gene with protein product						12359730	Standard	NM_181620		Approved	KAP22.1	uc011add.2	Q3MIV0	OTTHUMG00000057778	ENST00000334680.2:c.83G>A	21.37:g.31973522G>A	ENSP00000333887:p.Gly28Asp					KRTAP6-2_uc011adc.1_5'Flank	p.G28D	NM_181620	NP_853651	Q3MIV0	KR221_HUMAN			1	83	+			28						Missense_Mutation	SNP	ENST00000334680.2	37	c.83G>A	CCDS13601.1	.	.	.	.	.	.	.	.	.	.	G	9.044	0.990469	0.18966	.	.	ENSG00000186924	ENST00000334680	T	0.58797	0.31	3.8	0.954	0.19595	.	0.164922	0.27946	N	0.017208	T	0.41903	0.1179	.	.	.	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.36187	-0.9758	9	0.87932	D	0	.	6.105	0.20069	0.3357:0.0:0.6643:0.0	.	28	Q3MIV0	KR221_HUMAN	D	28	ENSP00000333887:G28D	ENSP00000333887:G28D	G	+	2	0	KRTAP22-1	30895393	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.334000	0.19787	0.081000	0.16988	-0.794000	0.03295	GGC		0.488	KRTAP22-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128230.2				111	9	0	0	0	0.00361	0	111	9		
KRTAP8-1	337879	broad.mit.edu	37	21	32185477	32185477	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:32185477T>G	ENST00000329621.4	-	1	93	c.62A>C	c.(61-63)tAc>tCc	p.Y21S		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	21	12 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)				central_nervous_system(1)|large_intestine(1)|lung(4)	6						TCCCAGCGGGTAGCCATAGCT	0.602																																						uc002you.2		NaN																	0					0						c.(61-63)TAC>TCC		keratin associated protein 8-1							85.0	72.0	77.0					21																	32185477		2203	4300	6503	SO:0001583	missense	337879					intermediate filament		g.chr21:32185477T>G	AJ457064	CCDS13607.1	21q22.1	2006-03-13			ENSG00000183640	ENSG00000183640		"""Keratin associated proteins"""	18935	protein-coding gene	gene with protein product						12359730	Standard	NM_175857		Approved	KAP8.1	uc002you.3	Q8IUC2	OTTHUMG00000057771	ENST00000329621.4:c.62A>C	21.37:g.32185477T>G	ENSP00000332805:p.Tyr21Ser						p.Y21S	NM_175857	NP_787053	Q8IUC2	KRA81_HUMAN			1	94	-			21			12 X 2 AA repeats of G-[YCGS].		Q3LI57	Missense_Mutation	SNP	ENST00000329621.4	37	c.62A>C	CCDS13607.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.702924	0.30232	.	.	ENSG00000183640	ENST00000329621	.	.	.	5.42	5.42	0.78866	.	0.000000	0.50627	D	0.000102	T	0.78220	0.4249	.	.	.	0.37995	D	0.93404	D	0.89917	1.0	D	0.91635	0.999	T	0.82985	-0.0185	8	0.72032	D	0.01	-12.3117	12.1588	0.54093	0.0:0.0:0.0:1.0	.	21	Q8IUC2	KRA81_HUMAN	S	21	.	ENSP00000332805:Y21S	Y	-	2	0	KRTAP8-1	31107348	1.000000	0.71417	0.964000	0.40570	0.519000	0.34347	3.553000	0.53713	2.181000	0.69327	0.455000	0.32223	TAC		0.602	KRTAP8-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128223.1				36	2	0	0	0	0.00874	0	36	2		
TIAM1	7074	broad.mit.edu	37	21	32617923	32617924	+	Missense_Mutation	DNP	TG	TG	AA			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:32617923_32617924TG>AA	ENST00000286827.3	-	7	1935_1936	c.1464_1465CA>TT	c.(1462-1467)aaCAgc>aaTTgc	p.S489C	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.S489C	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	489	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTGGGGATGCTGTTGTGGTCTA	0.545																																						uc002yow.1		NaN																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(1462-1467)AACAGC>AATTGC		T-cell lymphoma invasion and metastasis 1																																				SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32617923_32617924TG>AA		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1464_1465delinsAA	21.37:g.32617923_32617924delinsAA	ENSP00000286827:p.Ser489Cys					TIAM1_uc011adk.1_Missense_Mutation_p.S489C|TIAM1_uc011adl.1_Missense_Mutation_p.S489C|TIAM1_uc002yox.1_Missense_Mutation_p.S97C	p.S489C	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			7	1936_1937	-			489			PH 1.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	DNP	ENST00000286827.3	37	c.1464_1465CA>TT	CCDS13609.1																																																																																				0.545	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1		NM_003253		18	3	0	0	0	0.004672	0	18	3		
DSCAM	1826	broad.mit.edu	37	21	41385013	41385013	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:41385013C>T	ENST00000400454.1	-	33	6464	c.5987G>A	c.(5986-5988)cGg>cAg	p.R1996Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1996				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAAATGGCCCCGGGAGTCGAG	0.517																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NaN																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(5986-5988)CGG>CAG		Down syndrome cell adhesion molecule isoform							60.0	60.0	60.0					21																	41385013		1899	4124	6023	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385013C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5987G>A	21.37:g.41385013C>T	ENSP00000383303:p.Arg1996Gln					DSCAM_uc002yyr.1_RNA	p.R1996Q	NM_001389	NP_001380	O60469	DSCAM_HUMAN			33	6439	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1996	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).		Cytoplasmic (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.5987G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.036872	0.75617	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.70516	-0.36;-0.49	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.82806	0.5117	M	0.63843	1.955	0.44492	D	0.997432	D	0.69078	0.997	D	0.70227	0.968	D	0.84339	0.0526	10	0.87932	D	0	.	19.17	0.93574	0.0:1.0:0.0:0.0	.	1996	O60469	DSCAM_HUMAN	Q	1996;1730	ENSP00000383303:R1996Q;ENSP00000385342:R1730Q	ENSP00000383303:R1996Q	R	-	2	0	DSCAM	40306883	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.262000	0.78410	2.521000	0.84997	0.557000	0.71058	CGG		0.517	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389		26	2	0	0	0	0.003271	0	26	2		
DSCAM	1826	broad.mit.edu	37	21	41416166	41416166	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:41416166G>T	ENST00000400454.1	-	31	5699	c.5222C>A	c.(5221-5223)aCa>aAa	p.T1741K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1741					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTTTCTCGCTGTGGGCCCAGC	0.602																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NaN																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(5221-5223)ACA>AAA		Down syndrome cell adhesion molecule isoform							79.0	88.0	85.0					21																	41416166		2123	4240	6363	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41416166G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5222C>A	21.37:g.41416166G>T	ENSP00000383303:p.Thr1741Lys					DSCAM_uc002yyr.1_RNA	p.T1741K	NM_001389	NP_001380	O60469	DSCAM_HUMAN			31	5674	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1741			Cytoplasmic (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.5222C>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	g	13.78	2.339500	0.41398	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.58797	0.31;0.4	5.53	5.53	0.82687	.	0.106321	0.64402	D	0.000003	T	0.39009	0.1062	N	0.14661	0.345	0.41370	D	0.987484	B	0.31125	0.309	B	0.25140	0.058	T	0.29731	-1.0002	10	0.25106	T	0.35	.	15.0268	0.71677	0.0:0.1417:0.8583:0.0	.	1741	O60469	DSCAM_HUMAN	K	1741;1493	ENSP00000383303:T1741K;ENSP00000385342:T1493K	ENSP00000383303:T1741K	T	-	2	0	DSCAM	40338036	1.000000	0.71417	0.959000	0.39883	0.266000	0.26442	6.412000	0.73303	2.605000	0.88082	0.655000	0.94253	ACA		0.602	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389		16	1	1	0	1.01871e-10	0.008871	1.09784e-10	16	1		
KRTAP10-4	386672	broad.mit.edu	37	21	45994247	45994247	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:45994247C>T	ENST00000400374.3	+	1	642	c.612C>T	c.(610-612)tgC>tgT	p.C204C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	204	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCAGCTCCTGCACGCCCTCGT	0.662																																						uc002zfk.1		NaN																	0					0						c.(610-612)TGC>TGT		keratin associated protein 10-4							32.0	36.0	35.0					21																	45994247		2191	4280	6471	SO:0001819	synonymous_variant	386672					keratin filament		g.chr21:45994247C>T	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.612C>T	21.37:g.45994247C>T						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C204C	NM_198687	NP_941960	P60372	KR104_HUMAN			1	642	+			204			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Silent	SNP	ENST00000400374.3	37	c.612C>T	CCDS42957.1																																																																																				0.662	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1		NM_198687		51	6	0	0	0	0.00361	0	51	6		
CCT8L2	150160	broad.mit.edu	37	22	17073279	17073279	+	Silent	SNP	G	G	A	rs191641638		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:17073279G>A	ENST00000359963.3	-	1	421	c.162C>T	c.(160-162)caC>caT	p.H54H		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	54					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.H54Q(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCTGCCGGCCGTGGGGGCCAT	0.637																																						uc002zlp.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(160-162)CAC>CAT		T-complex protein 1							65.0	67.0	66.0					22																	17073279		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073279G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.162C>T	22.37:g.17073279G>A							p.H54H	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	422	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	54					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.162C>T	CCDS13738.1																																																																																				0.637	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1				3	94	0	0	0	0.000602	0	3	94		
C22orf29	79680	broad.mit.edu	37	22	19838758	19838758	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:19838758C>T	ENST00000405640.1	-	2	1695	c.1027G>A	c.(1027-1029)Ggt>Agt	p.G343S	GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.G343S|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.G343S|GNB1L_ENST00000405009.1_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	343					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					TGTGGGGTACCTAAGGACACC	0.602																																						uc002zqg.2		NaN																	0					0						c.(1027-1029)GGT>AGT		hypothetical protein LOC79680							40.0	37.0	38.0					22																	19838758		2202	4300	6502	SO:0001583	missense	79680							g.chr22:19838758C>T	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.1027G>A	22.37:g.19838758C>T	ENSP00000384924:p.Gly343Ser					GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Missense_Mutation_p.G343S|C22orf29_uc002zqi.2_Missense_Mutation_p.G343S|C22orf29_uc010grt.1_Intron	p.G343S	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN			2	1626	-	Colorectal(54;0.0993)		343					A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Missense_Mutation	SNP	ENST00000405640.1	37	c.1027G>A	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855783	0.32791	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	T;T;T	0.26957	1.7;1.7;1.7	3.4	1.2	0.21068	.	.	.	.	.	T	0.11324	0.0276	N	0.08118	0	0.09310	N	1	P	0.49961	0.93	B	0.41299	0.353	T	0.11275	-1.0594	9	0.45353	T	0.12	.	4.217	0.10539	0.2245:0.6524:0.0:0.1231	.	343	Q7L3V2	CV029_HUMAN	S	343	ENSP00000386111:G343S;ENSP00000330596:G343S;ENSP00000384924:G343S	ENSP00000330596:G343S	G	-	1	0	C22orf29	18218758	0.000000	0.05858	0.030000	0.17652	0.042000	0.13812	0.214000	0.17541	0.409000	0.25649	0.650000	0.86243	GGT		0.602	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2		NM_024627		4	2	0	0	0	0.009096	0	4	2		
MED15	51586	broad.mit.edu	37	22	20937496	20937496	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:20937496C>A	ENST00000263205.7	+	12	1703	c.1634C>A	c.(1633-1635)cCc>cAc	p.P545H	MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.P434H|MED15_ENST00000425759.2_Missense_Mutation_p.P394H|MED15_ENST00000406969.1_Missense_Mutation_p.P479H|MED15_ENST00000292733.7_Missense_Mutation_p.P505H|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.P479H	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	545					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TACATCGAGCCCCTGCGCCGC	0.607																																						uc002zsp.2		NaN																	0				skin(1)	1						c.(1633-1635)CCC>CAC		mediator complex subunit 15 isoform a							59.0	60.0	59.0					22																	20937496		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20937496C>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1634C>A	22.37:g.20937496C>A	ENSP00000263205:p.Pro545His					MED15_uc002zsq.2_Missense_Mutation_p.P505H|MED15_uc010gso.2_Missense_Mutation_p.P488H|MED15_uc002zsr.2_Missense_Mutation_p.P479H|MED15_uc011ahs.1_Missense_Mutation_p.P479H|MED15_uc002zss.2_Missense_Mutation_p.P424H|MED15_uc011ahu.1_Missense_Mutation_p.P255H|MED15_uc002zst.2_Missense_Mutation_p.P161H|MED15_uc002zsu.2_Missense_Mutation_p.P150H	p.P545H	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		12	1714	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	545					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1634C>A	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925341	0.92319	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.69	5.69	0.88448	Mediator complex, subunit Med15, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.80813	0.4695	M	0.80982	2.52	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	0.97110	1.0;1.0;1.0;0.999;0.999;1.0	T	0.82820	-0.0268	9	0.87932	D	0	.	17.3102	0.87207	0.0:1.0:0.0:0.0	.	475;524;161;479;505;545	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	H	394;505;545;479;434;479;475	.	ENSP00000263205:P545H	P	+	2	0	MED15	19267496	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.293000	0.78740	2.689000	0.91719	0.561000	0.74099	CCC		0.607	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2		NM_015889		10	9	1	0	0.000442599	0.006214	0.000451411	10	9		
LZTR1	8216	broad.mit.edu	37	22	21345960	21345960	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:21345960C>G	ENST00000215739.8	+	9	1194	c.835C>G	c.(835-837)Cca>Gca	p.P279A	LZTR1_ENST00000389355.3_Missense_Mutation_p.P260A|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	279					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGGCTCCCCACCACCCCCGCA	0.647																																						uc002zto.2		NaN																	0				ovary(2)|lung(2)	4						c.(835-837)CCA>GCA		leucine-zipper-like transcription regulator 1							31.0	28.0	29.0					22																	21345960		2201	4293	6494	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21345960C>G	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.835C>G	22.37:g.21345960C>G	ENSP00000215739:p.Pro279Ala					LZTR1_uc002ztn.2_Missense_Mutation_p.P238A|LZTR1_uc011ahy.1_Missense_Mutation_p.P260A|LZTR1_uc010gsr.1_Missense_Mutation_p.P150A	p.P279A	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		9	938	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	279			Kelch 4.		Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.835C>G	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105490	0.56291	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.68025	-0.3;-0.3	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.052192	0.85682	D	0.000000	T	0.65616	0.2708	L	0.42245	1.32	0.80722	D	1	B;B;P;P	0.52842	0.122;0.156;0.956;0.945	B;B;P;P	0.50440	0.112;0.204;0.622;0.641	T	0.60556	-0.7240	10	0.13108	T	0.6	-17.5178	16.1666	0.81759	0.0:1.0:0.0:0.0	.	260;238;279;238	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	A	238;279;260	ENSP00000215739:P279A;ENSP00000374006:P260A	ENSP00000215739:P279A	P	+	1	0	LZTR1	19675960	1.000000	0.71417	0.678000	0.29963	0.881000	0.50899	7.462000	0.80851	2.409000	0.81822	0.407000	0.27541	CCA		0.647	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1		NM_006767		7	19	0	0	0	0.006214	0	7	19		
PPM1F	9647	broad.mit.edu	37	22	22277628	22277628	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:22277628C>A	ENST00000263212.5	-	8	1307	c.1202G>T	c.(1201-1203)gGc>gTc	p.G401V	PPM1F_ENST00000407142.1_Missense_Mutation_p.G233V|PPM1F_ENST00000538191.1_Missense_Mutation_p.G297V	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	401					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GTCGTGGGAGCCCCGCTCCCG	0.687																																						uc002zvp.1		NaN																	0				ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5						c.(1201-1203)GGC>GTC		protein phosphatase 1F							40.0	46.0	44.0					22																	22277628		2203	4300	6503	SO:0001583	missense	9647				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr22:22277628C>A	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1202G>T	22.37:g.22277628C>A	ENSP00000263212:p.Gly401Val					PPM1F_uc011aik.1_Missense_Mutation_p.G297V	p.G401V	NM_014634	NP_055449	P49593	PPM1F_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	8	1316	-	Colorectal(54;0.105)		401					A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	c.1202G>T	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779755	0.90195	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191	T;T;T	0.22945	1.93;1.93;1.93	5.3	5.3	0.74995	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.65545	-0.6142	10	0.87932	D	0	-22.366	19.1402	0.93444	0.0:1.0:0.0:0.0	.	297;401	B7Z2C3;P49593	.;PPM1F_HUMAN	V	401;233;233;297	ENSP00000263212:G401V;ENSP00000384930:G233V;ENSP00000439915:G297V	ENSP00000263212:G401V	G	-	2	0	PPM1F	20607628	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	7.362000	0.79507	2.757000	0.94681	0.655000	0.94253	GGC		0.687	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2		NM_014634		35	35	1	0	1.7489e-18	0.011902	1.98428e-18	35	35		
CRYBA4	1413	broad.mit.edu	37	22	27021570	27021570	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:27021570G>A	ENST00000354760.3	+	4	319	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	95	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.R95Q(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						ACCTCCTTCCGGCCTGCGGCC	0.597																																						uc003acz.3		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(283-285)CGG>CAG		crystallin, beta A4							91.0	95.0	94.0					22																	27021570		2203	4300	6503	SO:0001583	missense	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27021570G>A		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.284G>A	22.37:g.27021570G>A	ENSP00000346805:p.Arg95Gln						p.R95Q	NM_001886	NP_001877	P53673	CRBA4_HUMAN			4	319	+			95			Beta/gamma crystallin 'Greek key' 2.		Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	37	c.284G>A	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886542	0.91814	.	.	ENSG00000196431	ENST00000354760	D	0.82344	-1.6	4.43	4.43	0.53597	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.061993	0.64402	D	0.000005	D	0.90242	0.6949	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	P	0.59012	0.85	D	0.91644	0.5329	10	0.56958	D	0.05	.	14.5934	0.68386	0.0:0.0:1.0:0.0	.	95	P53673	CRBA4_HUMAN	Q	95	ENSP00000346805:R95Q	ENSP00000346805:R95Q	R	+	2	0	CRYBA4	25351570	1.000000	0.71417	0.999000	0.59377	0.710000	0.40934	8.309000	0.89969	2.304000	0.77564	0.561000	0.74099	CGG		0.597	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1		NM_001886		56	64	0	0	0	0.00361	0	56	64		
AP1B1	162	broad.mit.edu	37	22	29763219	29763219	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:29763219T>G	ENST00000405198.1	-	1	45	c.14A>C	c.(13-15)aAa>aCa	p.K5T	AP1B1_ENST00000402502.1_Missense_Mutation_p.K5T|AP1B1_ENST00000415447.1_Intron|AP1B1_ENST00000356015.2_Missense_Mutation_p.K5T|AP1B1_ENST00000357586.2_Missense_Mutation_p.K5T|AP1B1_ENST00000317368.7_Missense_Mutation_p.K5T|AP1B1_ENST00000432560.2_Missense_Mutation_p.K5T			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	5					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGTGAAATATTTTGAGTCAGT	0.443																																						uc003afj.2		NaN																	0				ovary(1)|skin(1)	2						c.(13-15)AAA>ACA		adaptor-related protein complex 1 beta 1 subunit							108.0	105.0	106.0					22																	29763219		2203	4297	6500	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29763219T>G	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.14A>C	22.37:g.29763219T>G	ENSP00000384194:p.Lys5Thr					AP1B1_uc003afi.2_Missense_Mutation_p.K5T|AP1B1_uc003afk.2_Missense_Mutation_p.K5T|AP1B1_uc003afl.2_Missense_Mutation_p.K5T	p.K5T	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			2	198	-			5					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.14A>C	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	t	27.7	4.850919	0.91277	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000421126	T;T;T;T;T;T;T	0.29142	1.64;1.64;1.63;1.64;1.59;1.63;1.58	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55465	0.1922	M	0.75615	2.305	0.80722	D	1	P;P;D;D	0.71674	0.79;0.889;0.998;0.997	P;P;D;D	0.79784	0.624;0.697;0.993;0.989	T	0.59710	-0.7403	10	0.72032	D	0.01	-14.5331	13.7962	0.63173	0.0:0.0:0.0:1.0	.	5;5;5;5	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	T	5	ENSP00000350199:K5T;ENSP00000348297:K5T;ENSP00000400065:K5T;ENSP00000384194:K5T;ENSP00000319361:K5T;ENSP00000386071:K5T;ENSP00000400022:K5T	ENSP00000319361:K5T	K	-	2	0	AP1B1	28093219	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.627000	0.83176	2.144000	0.66660	0.529000	0.55759	AAA		0.443	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1		NM_001127		13	43	0	0	0	0.004656	0	13	43		
PLA2G3	50487	broad.mit.edu	37	22	31532738	31532738	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:31532738A>G	ENST00000215885.3	-	6	1499	c.1247T>C	c.(1246-1248)aTg>aCg	p.M416T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	416					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CTCCCAAAGCATGTTGGTAAC	0.627																																						uc003aka.2		NaN																	0					0						c.(1246-1248)ATG>ACG		phospholipase A2, group III precursor							126.0	131.0	130.0					22																	31532738		2203	4300	6503	SO:0001583	missense	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31532738A>G	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.1247T>C	22.37:g.31532738A>G	ENSP00000215885:p.Met416Thr						p.M416T	NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN			6	1376	-			416					O95768	Missense_Mutation	SNP	ENST00000215885.3	37	c.1247T>C	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	A	2.624	-0.287959	0.05605	.	.	ENSG00000100078	ENST00000215885	T	0.27104	1.69	5.84	-0.692	0.11301	Phospholipase A2 (2);	1.171490	0.05790	N	0.610237	T	0.22475	0.0542	L	0.51422	1.61	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.34650	-0.9820	10	0.54805	T	0.06	0.0541	4.5816	0.12262	0.4245:0.0:0.1569:0.4185	.	416	Q9NZ20	PA2G3_HUMAN	T	416	ENSP00000215885:M416T	ENSP00000215885:M416T	M	-	2	0	PLA2G3	29862738	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.392000	0.07314	-0.131000	0.11578	-0.290000	0.09829	ATG		0.627	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1		NM_015715		5	157	0	0	0	0.001168	0	5	157		
TRIOBP	11078	broad.mit.edu	37	22	38119892	38119892	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:38119892C>G	ENST00000406386.3	+	7	1584	c.1329C>G	c.(1327-1329)ccC>ccG	p.P443P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	443					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTCCTCTCCCAGTAGAGCTA	0.582																																						uc003atr.2		NaN																	0				central_nervous_system(1)	1						c.(1327-1329)CCC>CCG		TRIO and F-actin binding protein isoform 6							71.0	75.0	74.0					22																	38119892		1882	4105	5987	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119892C>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1329C>G	22.37:g.38119892C>G						TRIOBP_uc003atu.2_Silent_p.P271P|TRIOBP_uc003atq.1_Silent_p.P443P|TRIOBP_uc003ats.1_Silent_p.P271P	p.P443P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	1600	+	Melanoma(58;0.0574)		443					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1329C>G	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2				5	111	0	0	0	0.00245	0	5	111		
TRIOBP	11078	broad.mit.edu	37	22	38120039	38120039	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:38120039C>G	ENST00000406386.3	+	7	1731	c.1476C>G	c.(1474-1476)ccC>ccG	p.P492P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	492					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTCCTCTCCCAGTAGAGCTA	0.582																																						uc003atr.2		NaN																	0				central_nervous_system(1)	1						c.(1474-1476)CCC>CCG		TRIO and F-actin binding protein isoform 6							53.0	50.0	51.0					22																	38120039		1897	4073	5970	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120039C>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1476C>G	22.37:g.38120039C>G						TRIOBP_uc003atu.2_Silent_p.P320P|TRIOBP_uc003atq.1_Silent_p.P492P|TRIOBP_uc003ats.1_Silent_p.P320P	p.P492P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	1747	+	Melanoma(58;0.0574)		492					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1476C>G	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2				49	58	0	0	0	0.00361	0	49	58		
DNAJB7	150353	broad.mit.edu	37	22	41257777	41257777	+	Silent	SNP	G	G	A	rs571921787		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:41257777G>A	ENST00000307221.4	-	1	353	c.222C>T	c.(220-222)aaC>aaT	p.N74N	XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_3'UTR	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	74							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTCCACCTCCGTTTAATCCTT	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		19226	0.0		0.0	False		,,,				2504	0.001					uc003azj.2		NaN																	0				ovary(1)	1						c.(220-222)AAC>AAT		DnaJ (Hsp40) homolog, subfamily B, member 7							176.0	169.0	171.0					22																	41257777		2203	4300	6503	SO:0001819	synonymous_variant	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257777G>A	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.222C>T	22.37:g.41257777G>A						XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_RNA|XPNPEP3_uc003azf.1_RNA|XPNPEP3_uc010gyh.1_5'Flank	p.N74N	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN			1	354	-			74					Q2M220|Q5H904|Q8WYJ7	Silent	SNP	ENST00000307221.4	37	c.222C>T	CCDS14008.1																																																																																				0.358	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1		NM_145174		66	1	0	0	0	0.00361	0	66	1		
EFCAB6	64800	broad.mit.edu	37	22	44031097	44031097	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:44031097C>T	ENST00000262726.7	-	18	2237		c.e18-1		EFCAB6_ENST00000396231.2_Splice_Site	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTCCAGTACCTGACGAGGGA	0.572																																						uc003bdy.1		NaN																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.e18-1		CAP-binding protein complex interacting protein							150.0	120.0	130.0					22																	44031097		2203	4300	6503	SO:0001630	splice_region_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44031097C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1984-1G>A	22.37:g.44031097C>T						EFCAB6_uc003bdz.1_Splice_Site_p.V510_splice|EFCAB6_uc010gzi.1_Splice_Site_p.V510_splice|EFCAB6_uc010gzj.1_Intron|EFCAB6_uc010gzk.1_Intron	p.V662_splice	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			18	2199	-		Ovarian(80;0.0247)|all_neural(38;0.025)						A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Splice_Site	SNP	ENST00000262726.7	37	c.1984_splice	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896922	0.33535	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0748	0.72069	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EFCAB6	42362430	1.000000	0.71417	0.974000	0.42286	0.195000	0.23768	3.608000	0.54109	2.524000	0.85096	0.561000	0.74099	.		0.572	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1		NM_022785	Intron	37	40	0	0	0	0.00361	0	37	40		
FBLN1	2192	broad.mit.edu	37	22	45972913	45972913	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:45972913A>G	ENST00000327858.6	+	16	1992	c.1897A>G	c.(1897-1899)Atc>Gtc	p.I633V	FBLN1_ENST00000348697.2_Missense_Mutation_p.I633V	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	633					embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGCTAACATCATCTTCGACAT	0.572																																						uc003bgj.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1897-1899)ATC>GTC		fibulin 1 isoform D							175.0	136.0	150.0					22																	45972913		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45972913A>G		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1897A>G	22.37:g.45972913A>G	ENSP00000331544:p.Ile633Val						p.I633V	NM_006486	NP_006477	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	16	2044	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	633					B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.1897A>G	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.638067	0.29157	.	.	ENSG00000077942	ENST00000348697;ENST00000327858	D;D	0.83075	-1.58;-1.68	4.54	3.51	0.40186	.	0.340282	0.28151	N	0.016414	T	0.61565	0.2357	N	0.08118	0	0.28999	N	0.887601	B	0.31026	0.304	B	0.23419	0.046	T	0.53989	-0.8360	10	0.24483	T	0.36	.	7.7316	0.28789	0.9008:0.0:0.0992:0.0	.	633	P23142	FBLN1_HUMAN	V	633	ENSP00000262723:I633V;ENSP00000331544:I633V	ENSP00000331544:I633V	I	+	1	0	FBLN1	44351577	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	3.730000	0.55006	0.723000	0.32274	0.379000	0.24179	ATC		0.572	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1		NM_006486		36	101	0	0	0	0.013114	0	36	101		
SNRK	54861	broad.mit.edu	37	3	43384866	43384866	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:43384866C>G	ENST00000296088.7	+	6	1279	c.975C>G	c.(973-975)atC>atG	p.I325M	SNRK_ENST00000429705.2_Missense_Mutation_p.I325M|SNRK_ENST00000437827.1_Missense_Mutation_p.I119M|SNRK_ENST00000454177.1_Missense_Mutation_p.I325M	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		ATAACCATATCACAGCCACAT	0.448																																						uc003cms.3		NaN																	0				ovary(3)|stomach(1)|breast(1)|skin(1)	6						c.(973-975)ATC>ATG		SNF related kinase							121.0	121.0	121.0					3																	43384866		1857	4104	5961	SO:0001583	missense	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43384866C>G	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.975C>G	3.37:g.43384866C>G	ENSP00000296088:p.Ile325Met					SNRK_uc003cmt.3_Missense_Mutation_p.I325M|SNRK_uc010hik.2_Missense_Mutation_p.I325M|SNRK_uc011azr.1_Missense_Mutation_p.I119M	p.I325M	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	6	1307	+			325			UBA.			Missense_Mutation	SNP	ENST00000296088.7	37	c.975C>G	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.421191	0.62622	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.68479	-0.33;-0.33;-0.33;2.55	5.27	3.35	0.38373	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);	0.111023	0.64402	D	0.000011	T	0.77398	0.4124	M	0.71036	2.16	0.58432	D	0.999998	D	0.65815	0.995	D	0.64042	0.921	T	0.78163	-0.2311	10	0.72032	D	0.01	.	11.554	0.50737	0.0:0.8446:0.0:0.1554	.	325	Q9NRH2	SNRK_HUMAN	M	325;325;325;119	ENSP00000401246:I325M;ENSP00000411375:I325M;ENSP00000296088:I325M;ENSP00000409516:I119M	ENSP00000296088:I325M	I	+	3	3	SNRK	43359870	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.917000	0.56424	0.630000	0.30394	-0.345000	0.07892	ATC		0.448	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1		NM_017719		3	87	0	0	0	0.009096	0	3	87		
TMIE	259236	broad.mit.edu	37	3	46751086	46751086	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:46751086A>C	ENST00000326431.3	+	4	534	c.379A>C	c.(379-381)Aag>Cag	p.K127Q		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	127	Lys-rich.				inner ear morphogenesis (GO:0042472)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		gaagaagaagaagaagaagaa	0.502																																						uc010hjk.1		NaN																	0					0						c.(379-381)AAG>CAG		transmembrane inner ear protein precursor							104.0	111.0	109.0					3																	46751086		1967	4143	6110	SO:0001583	missense	259236					integral to membrane		g.chr3:46751086A>C	AY081842	CCDS43081.1	3p21	2010-01-06	2004-05-19		ENSG00000181585	ENSG00000181585			30800	protein-coding gene	gene with protein product		607237	"""deafness, autosomal recessive 6"""	DFNB6		12140191, 12145746	Standard	NM_147196		Approved		uc010hjk.1	Q8NEW7	OTTHUMG00000149909	ENST00000326431.3:c.379A>C	3.37:g.46751086A>C	ENSP00000324775:p.Lys127Gln					TMIE_uc010hjj.1_3'UTR	p.K127Q	NM_147196	NP_671729	Q8NEW7	TMIE_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	4	534	+			127			Cytoplasmic (Potential).|Lys-rich.		A0AV93|A8K0R0	Missense_Mutation	SNP	ENST00000326431.3	37	c.379A>C	CCDS43081.1	.	.	.	.	.	.	.	.	.	.	a	17.44	3.389031	0.61956	.	.	ENSG00000181585	ENST00000326431	D	0.91894	-2.93	4.45	4.45	0.53987	.	0.264709	0.35495	N	0.003173	D	0.90525	0.7031	L	0.36672	1.1	0.33038	D	0.53101	D	0.57571	0.98	P	0.54174	0.744	D	0.91583	0.5280	10	0.39692	T	0.17	-11.3269	10.3173	0.43745	1.0:0.0:0.0:0.0	.	127	Q8NEW7	TMIE_HUMAN	Q	127	ENSP00000324775:K127Q	ENSP00000324775:K127Q	K	+	1	0	TMIE	46726090	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	5.006000	0.63978	1.988000	0.58038	0.533000	0.62120	AAG		0.502	TMIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313853.1		NM_147196		19	28	0	0	0	0.008871	0	19	28		
CELSR3	1951	broad.mit.edu	37	3	48699092	48699092	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:48699092G>A	ENST00000164024.4	-	1	1256	c.976C>T	c.(976-978)Ccg>Tcg	p.P326S	CELSR3_ENST00000544264.1_Missense_Mutation_p.P326S|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	326	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGTACTGCGGAAACTGCGGG	0.701																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(976-978)CCG>TCG		cadherin EGF LAG seven-pass G-type receptor 3							47.0	52.0	50.0					3																	48699092		2179	4267	6446	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699092G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.976C>T	3.37:g.48699092G>A	ENSP00000164024:p.Pro326Ser					CELSR3_uc003cuf.1_Missense_Mutation_p.P396S	p.P326S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	1257	-			326			Extracellular (Potential).|Cadherin 1.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.976C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800902	0.50315	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.66280	-0.2;-0.2	5.73	4.86	0.63082	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.44993	0.1320	N	0.16833	0.445	0.58432	D	0.999996	B;B	0.28350	0.125;0.208	B;B	0.24006	0.05;0.033	T	0.35943	-0.9768	9	0.31617	T	0.26	.	13.4137	0.60956	0.0765:0.0:0.9235:0.0	.	326;396	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	S	326	ENSP00000164024:P326S;ENSP00000445694:P326S	ENSP00000164024:P326S	P	-	1	0	CELSR3	48674096	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	3.714000	0.54889	1.432000	0.47375	0.655000	0.94253	CCG		0.701	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		25	80	0	0	0	0.009535	0	25	80		
BSN	8927	broad.mit.edu	37	3	49689154	49689154	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:49689154C>T	ENST00000296452.4	+	5	2279	c.2165C>T	c.(2164-2166)tCc>tTc	p.S722F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	722					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCAGCCCCTCCGAGATCCAC	0.647																																						uc003cxe.3		NaN																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(2164-2166)TCC>TTC		bassoon protein							63.0	62.0	62.0					3																	49689154		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49689154C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2165C>T	3.37:g.49689154C>T	ENSP00000296452:p.Ser722Phe						p.S722F	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	2279	+			722					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.2165C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	c	13.52	2.262926	0.39995	.	.	ENSG00000164061	ENST00000296452	T	0.44881	0.91	5.16	4.28	0.50868	.	0.143376	0.48286	D	0.000197	T	0.58694	0.2140	M	0.77313	2.365	0.39801	D	0.972571	P	0.52577	0.954	P	0.55667	0.781	T	0.66081	-0.6012	10	0.62326	D	0.03	.	13.56	0.61784	0.0:0.9242:0.0:0.0758	.	722	Q9UPA5	BSN_HUMAN	F	722	ENSP00000296452:S722F	ENSP00000296452:S722F	S	+	2	0	BSN	49664158	1.000000	0.71417	0.474000	0.27266	0.870000	0.49936	6.049000	0.71053	1.157000	0.42530	0.556000	0.70494	TCC		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1		NM_003458		62	30	0	0	0	0.00361	0	62	30		
GRM2	2912	broad.mit.edu	37	3	51746972	51746972	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:51746972G>A	ENST00000395052.3	+	3	1168	c.934G>A	c.(934-936)Gag>Aag	p.E312K	GRM2_ENST00000442933.2_Missense_Mutation_p.E312K|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	312					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)		GGGGGCTGCTGAGGGTGCTAT	0.627																																						uc010hlv.2		NaN																	0				lung(1)	1						c.(934-936)GAG>AAG		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						51.0	45.0	47.0					3																	51746972		2202	4300	6502	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51746972G>A	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.934G>A	3.37:g.51746972G>A	ENSP00000378492:p.Glu312Lys					GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	p.E312K	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	1173	+			312			Extracellular (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.934G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289927	0.59976	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.87491	-2.26;-2.26	5.25	5.25	0.73442	Extracellular ligand-binding receptor (1);	0.111044	0.64402	D	0.000009	D	0.88621	0.6486	L	0.55481	1.735	0.52501	D	0.999952	P	0.41848	0.763	P	0.46208	0.507	D	0.89565	0.3809	10	0.72032	D	0.01	.	19.2281	0.93825	0.0:0.0:1.0:0.0	.	312	Q14416	GRM2_HUMAN	K	312	ENSP00000378492:E312K;ENSP00000408906:E312K	ENSP00000296479:E312K	E	+	1	0	GRM2	51722012	1.000000	0.71417	0.940000	0.37924	0.428000	0.31595	4.527000	0.60573	2.637000	0.89404	0.650000	0.86243	GAG		0.627	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1				39	23	0	0	0	0.00361	0	39	23		
UBA3	9039	broad.mit.edu	37	3	69113226	69113226	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:69113226G>A	ENST00000361055.4	-	7	519	c.465C>T	c.(463-465)ttC>ttT	p.F155F	UBA3_ENST00000349511.4_Silent_p.F141F|UBA3_ENST00000540295.1_Intron|UBA3_ENST00000415609.2_Silent_p.F114F	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	155					cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TACGTCGATAGAAAGTGTCGT	0.289																																						uc003dno.2		NaN																	0				ovary(1)	1						c.(463-465)TTC>TTT		ubiquitin-activating enzyme 3 isoform 1							57.0	57.0	57.0					3																	69113226		2202	4298	6500	SO:0001819	synonymous_variant	9039				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	g.chr3:69113226G>A	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.465C>T	3.37:g.69113226G>A						UBA3_uc003dnq.2_Silent_p.F141F|UBA3_uc011bfy.1_Intron|UBA3_uc011bfz.1_Intron	p.F155F	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	7	485	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	155			ATP.		A6NLB5|A8K027|O76088|Q9NTU3	Silent	SNP	ENST00000361055.4	37	c.465C>T	CCDS2909.1																																																																																				0.289	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1		NM_198195		6	7	0	0	0	0.006214	0	6	7		
ROBO2	6092	broad.mit.edu	37	3	77607281	77607281	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:77607281T>C	ENST00000461745.1	+	9	2318	c.1418T>C	c.(1417-1419)cTg>cCg	p.L473P	ROBO2_ENST00000332191.8_Missense_Mutation_p.L473P|ROBO2_ENST00000487694.3_Missense_Mutation_p.L489P	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	473	Ig-like C2-type 5.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAAGGCACACTGCAGATTAAG	0.378																																						uc003dpy.3		NaN																	0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(1417-1419)CTG>CCG		roundabout, axon guidance receptor, homolog 2							87.0	85.0	86.0					3																	77607281		1884	4117	6001	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77607281T>C	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1418T>C	3.37:g.77607281T>C	ENSP00000417164:p.Leu473Pro					ROBO2_uc003dpz.2_Missense_Mutation_p.L477P|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.L477P	p.L473P	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	9	2061	+			473			Ig-like C2-type 5.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1418T>C	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239303	0.58995	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.68479	-0.33;-0.33;-0.33	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36628	N	0.002494	D	0.89815	0.6824	H	0.99516	4.605	0.48696	D	0.999692	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	D	0.93914	0.7199	9	0.87932	D	0	.	14.7813	0.69769	0.0:0.0:0.0:1.0	.	489;473;473	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	P	489;489;493;473;473;194	ENSP00000417335:L489P;ENSP00000417164:L473P;ENSP00000327536:L473P	ENSP00000327536:L473P	L	+	2	0	ROBO2	77689971	1.000000	0.71417	0.938000	0.37757	0.402000	0.30811	7.997000	0.88414	2.293000	0.77203	0.477000	0.44152	CTG		0.378	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2		XM_031246		55	24	0	0	0	0.00361	0	55	24		
ROBO2	6092	broad.mit.edu	37	3	77626765	77626765	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:77626765G>T	ENST00000461745.1	+	15	3228	c.2328G>T	c.(2326-2328)aaG>aaT	p.K776N	ROBO2_ENST00000332191.8_Splice_Site_p.K776N|ROBO2_ENST00000487694.3_Splice_Site_p.K792N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	776	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGAATACAAGGTAGGACCCG	0.443																																						uc003dpy.3		NaN																	0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(2326-2328)AAG>AAT		roundabout, axon guidance receptor, homolog 2							65.0	65.0	65.0					3																	77626765		1882	4101	5983	SO:0001630	splice_region_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77626765G>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2328+1G>T	3.37:g.77626765G>T						ROBO2_uc003dpz.2_Missense_Mutation_p.K780N|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.K780N	p.K776N	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	15	2971	+			776			Fibronectin type-III 3.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2328G>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201759	0.79015	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.57273	0.41;0.41;0.41	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.48286	D	0.000197	T	0.65207	0.2669	M	0.65498	2.005	.	.	.	B;P;B	0.34462	0.428;0.454;0.428	P;B;P	0.45712	0.491;0.425;0.491	T	0.65545	-0.6142	9	0.56958	D	0.05	.	19.4989	0.95085	0.0:0.0:1.0:0.0	.	792;776;776	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	N	792;792;796;776;776;497	ENSP00000417335:K792N;ENSP00000417164:K776N;ENSP00000327536:K776N	ENSP00000327536:K776N	K	+	3	2	ROBO2	77709455	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	9.864000	0.99589	2.596000	0.87737	0.491000	0.48974	AAG		0.443	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2		XM_031246	Missense_Mutation	25	14	1	0	6.00712e-18	0.012213	6.76945e-18	25	14		
EPHA6	285220	broad.mit.edu	37	3	97311498	97311498	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:97311498T>A	ENST00000514100.1	+	9	847	c.605T>A	c.(604-606)tTc>tAc	p.F202Y	EPHA6_ENST00000389672.5_Missense_Mutation_p.F810Y|EPHA6_ENST00000442602.2_Missense_Mutation_p.F176Y|EPHA6_ENST00000502694.1_Missense_Mutation_p.F202Y	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	716	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGCCCCAGCTTCCTGAGGGCA	0.493																																						uc010how.1		NaN																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(2428-2430)TTC>TAC		EPH receptor A6 isoform a							63.0	63.0	63.0					3																	97311498		1829	4079	5908	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97311498T>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.605T>A	3.37:g.97311498T>A	ENSP00000421711:p.Phe202Tyr					EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.F176Y|EPHA6_uc003drs.3_Missense_Mutation_p.F202Y|EPHA6_uc003drr.3_Missense_Mutation_p.F202Y|EPHA6_uc003drt.2_Missense_Mutation_p.F202Y|EPHA6_uc010hox.1_Intron	p.F810Y	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			12	2472	+			715			Protein kinase.|Cytoplasmic (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.2429T>A		.	.	.	.	.	.	.	.	.	.	T	24.6	4.549388	0.86127	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;D;T;T	0.81739	-0.82;-1.53;-1.3;0.3	6.16	6.16	0.99307	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.80330	0.4603	N	0.10707	0.03	0.39728	D	0.971572	D;D;D;D	0.69078	0.963;0.963;0.982;0.997	D;D;D;D	0.76071	0.95;0.95;0.961;0.987	D	0.85010	0.0905	9	0.62326	D	0.03	.	15.3771	0.74615	0.0:0.0:0.0:1.0	.	176;715;202;202	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	Y	810;202;202;176	ENSP00000374323:F810Y;ENSP00000421711:F202Y;ENSP00000423950:F202Y;ENSP00000403100:F176Y	ENSP00000374323:F810Y	F	+	2	0	EPHA6	98794188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.869000	0.63028	2.367000	0.80283	0.528000	0.53228	TTC		0.493	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1		NM_001080448		11	23	0	0	0	0.00245	0	11	23		
CD200	4345	broad.mit.edu	37	3	112059796	112059796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:112059796G>A	ENST00000315711.8	+	2	117	c.60G>A	c.(58-60)tgG>tgA	p.W20*	CD200_ENST00000383681.3_Intron|CD200_ENST00000473539.1_Nonsense_Mutation_p.W45*	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	20					regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GCCTGGTTTGGGTCATGGCAG	0.483																																						uc003dyw.2		NaN																	0					0						c.(133-135)TGG>TGA		CD200 antigen isoform b							135.0	114.0	121.0					3																	112059796		2203	4300	6503	SO:0001587	stop_gained	4345				regulation of immune response	integral to plasma membrane		g.chr3:112059796G>A		CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7203	protein-coding gene	gene with protein product		155970	"""antigen identified by monoclonal antibody MRC OX-2"", ""CD200 antigen"""	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000315711.8:c.60G>A	3.37:g.112059796G>A	ENSP00000312766:p.Trp20*					CD200_uc010hqd.1_5'UTR|CD200_uc003dyx.2_Nonsense_Mutation_p.W20*|CD200_uc003dyy.2_Intron|CD200_uc003dyz.2_Intron	p.W45*	NM_001004196	NP_001004196	P41217	OX2G_HUMAN			3	279	+		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)	20					B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Nonsense_Mutation	SNP	ENST00000315711.8	37	c.135G>A	CCDS2965.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051711	0.93793	.	.	ENSG00000091972	ENST00000315711;ENST00000473539	.	.	.	5.45	4.55	0.56014	.	0.123294	0.38058	N	0.001840	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6155	11.8892	0.52620	0.0:0.175:0.8249:0.0	.	.	.	.	X	20;45	.	ENSP00000312766:W20X	W	+	3	0	CD200	113542486	0.998000	0.40836	0.935000	0.37517	0.975000	0.68041	3.032000	0.49736	1.495000	0.48549	0.655000	0.94253	TGG		0.483	CD200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354078.1				16	57	0	0	0	0.005443	0	16	57		
SPICE1	152185	broad.mit.edu	37	3	113188079	113188079	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:113188079G>C	ENST00000295872.4	-	8	877	c.618C>G	c.(616-618)ctC>ctG	p.L206L		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	206					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TTAGTTGTTGGAGAAACCTAT	0.289																																						uc003eag.3		NaN																	0					0						c.(616-618)CTC>CTG		coiled-coil domain containing 52							70.0	68.0	69.0					3																	113188079		2203	4300	6503	SO:0001819	synonymous_variant	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113188079G>C	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.618C>G	3.37:g.113188079G>C						CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Silent_p.L102L	p.L206L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN			8	909	-			206					D3DN72|Q8WUX6	Silent	SNP	ENST00000295872.4	37	c.618C>G	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	G	2.648	-0.282551	0.05642	.	.	ENSG00000163611	ENST00000467618	.	.	.	4.91	1.92	0.25849	.	.	.	.	.	T	0.54565	0.1866	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45600	-0.9250	4	.	.	.	-7.9388	6.838	0.23947	0.4387:0.0:0.5613:0.0	.	.	.	.	C	18	.	.	S	-	2	0	SPICE1	114670769	0.998000	0.40836	1.000000	0.80357	0.545000	0.35147	0.376000	0.20535	0.512000	0.28257	0.591000	0.81541	TCC		0.289	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2		NM_144718		16	6	0	0	0	0.007413	0	16	6		
KIAA2018	205717	broad.mit.edu	37	3	113376934	113376934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:113376934G>A	ENST00000478658.1	-	5	3612	c.3595C>T	c.(3595-3597)Cag>Tag	p.Q1199*	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Nonsense_Mutation_p.Q1199*			Q68DE3	K2018_HUMAN	KIAA2018	1199						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATTGAACCCTGAGAATTAAAT	0.413																																						uc003eam.2		NaN																	0				skin(2)|ovary(1)	3						c.(3595-3597)CAG>TAG		hypothetical protein LOC205717							103.0	92.0	95.0					3																	113376934		1848	4099	5947	SO:0001587	stop_gained	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113376934G>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3595C>T	3.37:g.113376934G>A	ENSP00000420721:p.Gln1199*					KIAA2018_uc003eal.2_Nonsense_Mutation_p.Q1143*	p.Q1199*	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	4006	-			1199					Q7Z3L9|Q8IVF3|Q9H8T4	Nonsense_Mutation	SNP	ENST00000478658.1	37	c.3595C>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	39	7.290372	0.98189	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	.	.	.	5.43	5.43	0.79202	.	0.072999	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-5.2085	19.2449	0.93898	0.0:0.0:1.0:0.0	.	.	.	.	X	1199	.	ENSP00000320794:Q1199X	Q	-	1	0	KIAA2018	114859624	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	3.428000	0.52792	2.560000	0.86352	0.561000	0.74099	CAG		0.413	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1		NM_001009899		21	17	0	0	0	0.00333	0	21	17		
ZBTB20	26137	broad.mit.edu	37	3	114070467	114070467	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:114070467T>C	ENST00000474710.1	-	4	636	c.458A>G	c.(457-459)aAg>aGg	p.K153R	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.K80R|ZBTB20_ENST00000462705.1_Missense_Mutation_p.K80R|ZBTB20_ENST00000393785.2_Missense_Mutation_p.K80R|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.K80R|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.K80R|ZBTB20_ENST00000471418.1_Missense_Mutation_p.K80R	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	153	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTCAATGAGCTTTTGCACTGA	0.582																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2		NaN																	0				ovary(4)|skin(1)	5						c.(457-459)AAG>AGG		zinc finger and BTB domain containing 20 isoform							90.0	78.0	82.0					3																	114070467		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070467T>C	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.458A>G	3.37:g.114070467T>C	ENSP00000419153:p.Lys153Arg					ZBTB20_uc003ebj.2_Missense_Mutation_p.K80R|ZBTB20_uc010hqp.2_Missense_Mutation_p.K80R|ZBTB20_uc003ebk.2_Missense_Mutation_p.K80R|ZBTB20_uc003ebl.2_Missense_Mutation_p.K80R|ZBTB20_uc003ebm.2_Missense_Mutation_p.K80R|ZBTB20_uc003ebn.2_Missense_Mutation_p.K80R|uc003ebo.1_5'Flank	p.K153R	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	638	-			153			BTB.		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.458A>G	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349709	0.82132	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.86	5.86	0.93980	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.73976	0.3656	L	0.28740	0.885	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.77242	-0.2660	10	0.87932	D	0	.	16.2652	0.82574	0.0:0.0:0.0:1.0	.	153	Q9HC78	ZBT20_HUMAN	R	80;80;80;80;153;80;80	ENSP00000420324:K80R;ENSP00000377375:K80R;ENSP00000418092:K80R;ENSP00000419902:K80R;ENSP00000419153:K153R;ENSP00000349803:K80R;ENSP00000417307:K80R	ENSP00000349803:K80R	K	-	2	0	ZBTB20	115553157	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.241000	0.73720	0.528000	0.53228	AAG		0.582	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1		NM_015642		18	53	0	0	0	0.012319	0	18	53		
POGLUT1	56983	broad.mit.edu	37	3	119205718	119205718	+	Missense_Mutation	SNP	G	G	T	rs117423733	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:119205718G>T	ENST00000295588.4	+	7	761	c.677G>T	c.(676-678)cGg>cTg	p.R226L		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	226					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						CTTCTGTCTCGGAAAAACCCA	0.413																																						uc003ecm.2		NaN																	0					0						c.(676-678)CGG>CTG		KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor							172.0	173.0	173.0					3																	119205718		2203	4300	6503	SO:0001583	missense	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119205718G>T	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.677G>T	3.37:g.119205718G>T	ENSP00000295588:p.Arg226Leu					KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.R67L	p.R226L	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN		GBM - Glioblastoma multiforme(114;0.233)	7	761	+			226					B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	c.677G>T	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260093	0.95368	.	.	ENSG00000163389	ENST00000295588	T	0.22539	1.95	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.91561	3.22	0.80722	D	1	D	0.63046	0.992	D	0.64877	0.93	T	0.56080	-0.8038	10	0.38643	T	0.18	-20.2105	14.3431	0.66641	0.0:0.0:1.0:0.0	.	226	Q8NBL1	PGLT1_HUMAN	L	226	ENSP00000295588:R226L	ENSP00000295588:R226L	R	+	2	0	POGLUT1	120688408	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.222000	0.95196	2.758000	0.94735	0.591000	0.81541	CGG		0.413	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2		NM_152305		47	68	1	0	1.88225e-35	0.00361	2.21481e-35	47	68		
GOLGB1	2804	broad.mit.edu	37	3	121410945	121410945	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:121410945C>T	ENST00000340645.5	-	14	7376	c.7251G>A	c.(7249-7251)ctG>ctA	p.L2417L	GOLGB1_ENST00000393667.3_Silent_p.L2422L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2417					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCTCCTGGGACAGCAGGTTTT	0.403																																						uc003eei.3		NaN																	0				ovary(6)|breast(2)|skin(2)	10						c.(7249-7251)CTG>CTA		golgi autoantigen, golgin subfamily b,							111.0	109.0	109.0					3																	121410945		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410945C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7251G>A	3.37:g.121410945C>T						GOLGB1_uc010hrc.2_Silent_p.L2422L|GOLGB1_uc003eej.3_Silent_p.L2383L	p.L2417L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	7377	-			2417			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.7251G>A	CCDS3004.1																																																																																				0.403	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		29	29	0	0	0	0.002836	0	29	29		
GOLGB1	2804	broad.mit.edu	37	3	121417379	121417379	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:121417379A>C	ENST00000340645.5	-	13	2101	c.1976T>G	c.(1975-1977)gTa>gGa	p.V659G	GOLGB1_ENST00000393667.3_Missense_Mutation_p.V664G	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	659					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTCAATTCTACTCCAGCATC	0.393																																						uc003eei.3		NaN																	0				ovary(6)|breast(2)|skin(2)	10						c.(1975-1977)GTA>GGA		golgi autoantigen, golgin subfamily b,							92.0	94.0	93.0					3																	121417379		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121417379A>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1976T>G	3.37:g.121417379A>C	ENSP00000341848:p.Val659Gly					GOLGB1_uc010hrc.2_Missense_Mutation_p.V664G|GOLGB1_uc003eej.3_Missense_Mutation_p.V625G|GOLGB1_uc011bjm.1_Missense_Mutation_p.V545G|GOLGB1_uc010hrd.1_Missense_Mutation_p.V623G	p.V659G	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2102	-			659			Cytoplasmic (Potential).		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.1976T>G	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.891|2.891	-0.229582|-0.229582	0.06022|0.06022	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.23147|.	2.5;2.5;1.92|.	5.19|5.19	4.05|4.05	0.47172|0.47172	.|.	0.608349|.	0.16727|.	N|.	0.202031|.	T|.	0.47340|.	0.1440|.	L|L	0.36672|0.36672	1.1|1.1	0.38275|0.38275	D|D	0.942274|0.942274	P;P;P;P;P|.	0.39216|.	0.467;0.664;0.664;0.664;0.467|.	B;B;B;B;B|.	0.38616|.	0.143;0.277;0.189;0.189;0.143|.	T|.	0.44452|.	-0.9327|.	10|.	0.24483|.	T|.	0.36|.	.|.	9.0815|9.0815	0.36554|0.36554	0.9137:0.0:0.0863:0.0|0.9137:0.0:0.0863:0.0	.|.	584;623;664;664;659|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	G|E	659;664;623;471|530	ENSP00000341848:V659G;ENSP00000377275:V664G;ENSP00000418231:V623G|.	ENSP00000341848:V659G|.	V|X	-|-	2|1	0|0	GOLGB1|GOLGB1	122900069|122900069	0.002000|0.002000	0.14202|0.14202	0.301000|0.301000	0.25044|0.25044	0.087000|0.087000	0.18053|0.18053	1.588000|1.588000	0.36633|0.36633	1.005000|1.005000	0.39183|0.39183	0.533000|0.533000	0.62120|0.62120	GTA|TAG		0.393	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		3	92	0	0	0	0.001168	0	3	92		
CCDC37	348807	broad.mit.edu	37	3	126142417	126142417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:126142417C>T	ENST00000352312.1	+	13	1315	c.1216C>T	c.(1216-1218)Cag>Tag	p.Q406*	CCDC37_ENST00000393425.1_Nonsense_Mutation_p.Q407*|CCDC37_ENST00000505024.1_Nonsense_Mutation_p.Q407*	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	406										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GTCGCTGATCCAGAACAGCCA	0.597																																						uc003eiu.1		NaN																	0				ovary(1)|skin(1)	2						c.(1216-1218)CAG>TAG		coiled-coil domain containing 37							96.0	81.0	86.0					3																	126142417		2203	4300	6503	SO:0001587	stop_gained	348807							g.chr3:126142417C>T	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1216C>T	3.37:g.126142417C>T	ENSP00000344749:p.Gln406*					CCDC37_uc010hsg.1_Nonsense_Mutation_p.Q407*	p.Q406*	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	13	1315	+			406			Potential.		D3DNA8|Q494V1|Q494V4|Q8N838	Nonsense_Mutation	SNP	ENST00000352312.1	37	c.1216C>T	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	C	37	6.450751	0.97577	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	.	.	.	4.93	4.93	0.64822	.	0.273572	0.37715	N	0.001976	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-41.4056	15.657	0.77144	0.0:1.0:0.0:0.0	.	.	.	.	X	406;407;407	.	ENSP00000344749:Q406X	Q	+	1	0	CCDC37	127625107	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.234000	0.65343	2.284000	0.76573	0.491000	0.48974	CAG		0.597	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4		NM_182628		33	39	0	0	0	0.009718	0	33	39		
PODXL2	50512	broad.mit.edu	37	3	127391916	127391916	+	IGR	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:127391916C>T	ENST00000342480.6	+	0	2186				ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000468137.1_5'Flank|ABTB1_ENST00000232744.8_Silent_p.G16G|ABTB1_ENST00000466612.1_3'UTR	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2						leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GGGATGTGGGCCGAGTGCGGT	0.746																																						uc003ejt.2		NaN																	0					0						c.(46-48)GGC>GGT		ankyrin repeat and BTB (POZ) domain containing 1							18.0	19.0	19.0					3																	127391916		2187	4288	6475	SO:0001628	intergenic_variant	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127391916C>T	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642		3.37:g.127391916C>T						ABTB1_uc003ejr.2_5'UTR|ABTB1_uc003ejs.2_Missense_Mutation_p.A3V|ABTB1_uc003eju.2_5'Flank	p.G16G	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN			1	136	+			16			ANK 1.		Q6UVY4|Q8WUV6	Silent	SNP	ENST00000342480.6	37	c.48C>T	CCDS3044.1																																																																																				0.746	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1		NM_015720		9	19	0	0	0	0.010729	0	9	19		
ATP2C1	27032	broad.mit.edu	37	3	130686221	130686221	+	Missense_Mutation	SNP	G	G	T	rs115441492		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:130686221G>T	ENST00000510168.1	+	16	1816	c.1266G>T	c.(1264-1266)atG>atT	p.M422I	ATP2C1_ENST00000513801.1_Missense_Mutation_p.M406I|ATP2C1_ENST00000507488.2_Missense_Mutation_p.M406I|ATP2C1_ENST00000393221.4_Missense_Mutation_p.M456I|ATP2C1_ENST00000504381.1_Missense_Mutation_p.M367I|ATP2C1_ENST00000428331.2_Missense_Mutation_p.M422I|ATP2C1_ENST00000505330.1_Missense_Mutation_p.M406I|ATP2C1_ENST00000328560.8_Missense_Mutation_p.M422I|ATP2C1_ENST00000508532.1_Missense_Mutation_p.M422I|ATP2C1_ENST00000359644.3_Missense_Mutation_p.M422I|ATP2C1_ENST00000504948.1_Missense_Mutation_p.M406I|ATP2C1_ENST00000533801.2_Missense_Mutation_p.M417I|ATP2C1_ENST00000422190.2_Missense_Mutation_p.M422I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	422					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATACTCTAATGGGGAAGCCAA	0.393									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2		NaN																	0				skin(1)	1						c.(1264-1266)ATG>ATT		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						109.0	109.0	109.0					3																	130686221		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130686221G>T	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1266G>T	3.37:g.130686221G>T	ENSP00000427461:p.Met422Ile					ATP2C1_uc011blg.1_Missense_Mutation_p.M456I|ATP2C1_uc011blh.1_Missense_Mutation_p.M417I|ATP2C1_uc011bli.1_Missense_Mutation_p.M456I|ATP2C1_uc003enk.2_Missense_Mutation_p.M406I|ATP2C1_uc003enm.2_Missense_Mutation_p.M422I|ATP2C1_uc003enn.2_Missense_Mutation_p.M406I|ATP2C1_uc003eno.2_Missense_Mutation_p.M422I|ATP2C1_uc003enp.2_Missense_Mutation_p.M422I|ATP2C1_uc003enq.2_Missense_Mutation_p.M422I|ATP2C1_uc003enr.2_Missense_Mutation_p.M422I|ATP2C1_uc003ens.2_Missense_Mutation_p.M422I|ATP2C1_uc003ent.2_Missense_Mutation_p.M422I|ATP2C1_uc003enu.2_Missense_Mutation_p.M100I	p.M422I	NM_014382	NP_055197	P98194	AT2C1_HUMAN			16	1488	+			422			Cytoplasmic (By similarity).		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.1266G>T	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.44|14.44	2.534992|2.534992	0.45073|0.45073	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421|ENST00000504612	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.91945|.	-2.82;-2.87;-2.82;-2.82;-2.86;-2.82;-2.82;-2.82;-2.82;-2.94;-2.82;-2.81;-2.82|.	5.59|5.59	5.59|5.59	0.84812|0.84812	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.040848|.	0.85682|.	D|.	0.000000|.	T|T	0.22975|0.22975	0.0555|0.0555	N|N	0.00300|0.00300	-1.685|-1.685	0.58432|0.58432	D|D	0.999996|0.999996	B;B;B;B;B;B;B|.	0.10296|.	0.003;0.003;0.001;0.003;0.001;0.001;0.002|.	B;B;B;B;B;B;B|.	0.14023|.	0.006;0.01;0.004;0.004;0.004;0.004;0.006|.	T|T	0.41016|0.41016	-0.9532|-0.9532	10|5	0.13853|.	T|.	0.58|.	.|.	19.5844|19.5844	0.95485|0.95485	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	456;417;456;422;456;422;422|.	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194|.	.;.;.;.;.;.;AT2C1_HUMAN|.	I|L	406;367;406;456;417;422;422;406;406;422;422;422;422;421|376	ENSP00000423774:M406I;ENSP00000425320:M367I;ENSP00000421326:M406I;ENSP00000376914:M456I;ENSP00000432956:M417I;ENSP00000427461:M422I;ENSP00000424783:M422I;ENSP00000423330:M406I;ENSP00000422872:M406I;ENSP00000329664:M422I;ENSP00000395809:M422I;ENSP00000352665:M422I;ENSP00000402677:M422I|.	ENSP00000329664:M422I|.	M|W	+|+	3|2	0|0	ATP2C1|ATP2C1	132168911|132168911	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.151000|6.151000	0.71806|0.71806	2.638000|2.638000	0.89438|0.89438	0.585000|0.585000	0.79938|0.79938	ATG|TGG		0.393	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2		NM_001001486		29	36	1	0	1.06644e-07	0.007835	1.11675e-07	29	36		
EPHB1	2047	broad.mit.edu	37	3	134851706	134851706	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:134851706C>T	ENST00000398015.3	+	5	1482	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	371	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CGGAGCTGCTCCCGCTGTGAC	0.612																																						uc003eqt.2		NaN																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1111-1113)TCC>TTC		ephrin receptor EphB1 precursor							41.0	47.0	45.0					3																	134851706		2195	4296	6491	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134851706C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1112C>T	3.37:g.134851706C>T	ENSP00000381097:p.Ser371Phe					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	p.S371F	NM_004441	NP_004432	P54762	EPHB1_HUMAN			5	1332	+			371			Extracellular (Potential).|Fibronectin type-III 1.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1112C>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028859	0.93518	.	.	ENSG00000154928	ENST00000398015	T	0.74526	-0.85	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.140415	0.48767	D	0.000171	D	0.84009	0.5378	L	0.58428	1.81	0.80722	D	1	D	0.67145	0.996	D	0.65573	0.936	D	0.84363	0.0539	10	0.56958	D	0.05	.	19.4235	0.94732	0.0:1.0:0.0:0.0	.	371	P54762	EPHB1_HUMAN	F	371	ENSP00000381097:S371F	ENSP00000381097:S371F	S	+	2	0	EPHB1	136334396	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.590000	0.87494	0.655000	0.94253	TCC		0.612	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1		NM_004441		29	27	0	0	0	0.007835	0	29	27		
STAG1	10274	broad.mit.edu	37	3	136085925	136085925	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:136085925C>G	ENST00000383202.2	-	25	2802		c.e25-1		STAG1_ENST00000434713.2_Splice_Site|STAG1_ENST00000536929.1_Splice_Site|STAG1_ENST00000236698.5_Splice_Site	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1						chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCATCACCCTCTAAACACAGA	0.299																																						uc003era.1		NaN																	0				ovary(2)	2						c.e25-1		stromal antigen 1							187.0	185.0	185.0					3																	136085925		2202	4299	6501	SO:0001630	splice_region_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136085925C>G	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2546-1G>C	3.37:g.136085925C>G						STAG1_uc003erb.1_Splice_Site_p.E849_splice|STAG1_uc003erc.1_Intron	p.E849_splice	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			25	2838	-								O00539|Q6P275	Splice_Site	SNP	ENST00000383202.2	37	c.2546_splice	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039430	0.75617	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2862	0.87142	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAG1	137568615	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.818000	0.86416	2.576000	0.86940	0.655000	0.94253	.		0.299	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1		NM_005862	Intron	22	119	0	0	0	0.012213	0	22	119		
STAG1	10274	broad.mit.edu	37	3	136196190	136196190	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:136196190T>A	ENST00000383202.2	-	10	1223	c.967A>T	c.(967-969)Agt>Tgt	p.S323C	STAG1_ENST00000434713.2_Missense_Mutation_p.S97C|STAG1_ENST00000236698.5_Missense_Mutation_p.S323C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	323	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAGGCATCACTATACATTTTC	0.343																																						uc003era.1		NaN																	0				ovary(2)	2						c.(967-969)AGT>TGT		stromal antigen 1							148.0	136.0	140.0					3																	136196190		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136196190T>A	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.967A>T	3.37:g.136196190T>A	ENSP00000372689:p.Ser323Cys					STAG1_uc003erb.1_Missense_Mutation_p.S323C|STAG1_uc003erc.1_Missense_Mutation_p.S97C|STAG1_uc010hua.1_Missense_Mutation_p.S186C	p.S323C	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			10	1259	-			323			SCD.		O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.967A>T	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850467	0.71719	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713	T;T;T	0.35048	1.33;1.33;1.33	5.09	5.09	0.68999	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	M	0.70903	2.155	0.80722	D	1	B;D;B	0.89917	0.26;1.0;0.26	B;D;B	0.70935	0.198;0.971;0.198	T	0.63198	-0.6691	10	0.66056	D	0.02	.	15.1528	0.72713	0.0:0.0:0.0:1.0	.	340;323;323	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	C	323;323;97	ENSP00000372689:S323C;ENSP00000236698:S323C;ENSP00000404396:S97C	ENSP00000236698:S323C	S	-	1	0	STAG1	137678880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.031000	0.59945	0.533000	0.62120	AGT		0.343	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1		NM_005862		57	29	0	0	0	0.00361	0	57	29		
PRR23A	729627	broad.mit.edu	37	3	138724664	138724664	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:138724664G>A	ENST00000383163.2	-	1	446	c.447C>T	c.(445-447)atC>atT	p.I149I	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	149										endometrium(3)|kidney(1)|lung(7)	11						CCTGGGCGGCGATCTCTGGGA	0.647																																						uc011bms.1		NaN																	0					0						c.(445-447)ATC>ATT		proline rich 23A							39.0	39.0	39.0					3																	138724664		692	1591	2283	SO:0001819	synonymous_variant	729627							g.chr3:138724664G>A		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.447C>T	3.37:g.138724664G>A							p.I149I	NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN			1	447	-			149						Silent	SNP	ENST00000383163.2	37	c.447C>T	CCDS46923.1																																																																																				0.647	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1		NM_001134659		11	24	0	0	0	0.00499	0	11	24		
GRK7	131890	broad.mit.edu	37	3	141497288	141497288	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:141497288G>A	ENST00000264952.2	+	1	299	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	54					protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AGCTGTCCCTGAACTTCCACA	0.677																																						uc011bnd.1		NaN																	0				lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(160-162)CTG>CTA		G-protein-coupled receptor kinase 7 precursor							22.0	22.0	22.0					3																	141497288		2200	4294	6494	SO:0001819	synonymous_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141497288G>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.162G>A	3.37:g.141497288G>A							p.L54L	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			1	246	+			54						Silent	SNP	ENST00000264952.2	37	c.162G>A	CCDS3120.1																																																																																				0.677	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1		NM_139209		20	1	0	0	0	0.00278	0	20	1		
PAQR9	344838	broad.mit.edu	37	3	142681984	142681984	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:142681984A>T	ENST00000340634.3	-	1	194	c.195T>A	c.(193-195)cgT>cgA	p.R65R	RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	65						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						TGCACGGCAGACGCCGGTAGC	0.667																																						uc003evg.2		NaN																	0					0						c.(193-195)CGT>CGA		progestin and adipoQ receptor family member IX							55.0	55.0	55.0					3																	142681984		2203	4300	6503	SO:0001819	synonymous_variant	344838					integral to membrane	receptor activity	g.chr3:142681984A>T	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.195T>A	3.37:g.142681984A>T						PAQR9_uc003evf.1_5'Flank	p.R65R	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN			1	195	-			65			Cytoplasmic (Potential).		Q147T6	Silent	SNP	ENST00000340634.3	37	c.195T>A	CCDS3128.1																																																																																				0.667	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1		NM_198504		13	4	0	0	0	0.00245	0	13	4		
WDR49	151790	broad.mit.edu	37	3	167196776	167196776	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:167196776C>G	ENST00000308378.3	-	15	2289	c.1984G>C	c.(1984-1986)Gct>Cct	p.A662P	WDR49_ENST00000476376.1_Missense_Mutation_p.A487P|SERPINI2_ENST00000476257.1_5'UTR|WDR49_ENST00000453925.2_Missense_Mutation_p.A627P|WDR49_ENST00000479765.1_3'UTR	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	662										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCAAATACAGCTTTCAAAGCT	0.318																																						uc003fev.1		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1984-1986)GCT>CCT		WD repeat domain 49							56.0	54.0	55.0					3																	167196776		2201	4295	6496	SO:0001583	missense	151790							g.chr3:167196776C>G	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1984G>C	3.37:g.167196776C>G	ENSP00000311343:p.Ala662Pro					WDR49_uc003feu.1_Missense_Mutation_p.A487P|WDR49_uc011bpd.1_Missense_Mutation_p.A627P|WDR49_uc003few.1_3'UTR	p.A662P	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			15	2290	-			662					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1984G>C	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.69|14.69	2.609355|2.609355	0.46527|0.46527	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|T	0.56611|0.59364	0.45;1.72;0.72|0.27	5.6|5.6	3.77|3.77	0.43336|0.43336	.|.	0.178938|.	0.38663|.	N|.	0.001604|.	T|T	0.60353|0.60353	0.2262|0.2262	M|M	0.64997|0.64997	1.995|1.995	0.23632|0.23632	N|N	0.997244|0.997244	D;D|.	0.63880|.	0.993;0.993|.	P;P|.	0.58721|.	0.844;0.844|.	T|T	0.54132|0.54132	-0.8339|-0.8339	10|7	0.56958|0.62326	D|D	0.05|0.03	.|.	7.4587|7.4587	0.27283|0.27283	0.296:0.6267:0.0:0.0773|0.296:0.6267:0.0:0.0773	.|.	627;662|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	P|N	662;487;627|638	ENSP00000311343:A662P;ENSP00000420508:A487P;ENSP00000410863:A627P|ENSP00000419130:K638N	ENSP00000311343:A662P|ENSP00000419130:K638N	A|K	-|-	1|3	0|2	WDR49|WDR49	168679470|168679470	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.412000|0.412000	0.31113|0.31113	1.481000|1.481000	0.35476|0.35476	0.690000|0.690000	0.31570|0.31570	-0.142000|-0.142000	0.14014|0.14014	GCT|AAG		0.318	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3		NM_178824		2	9	0	0	0	0.004672	0	2	9		
PLD1	5337	broad.mit.edu	37	3	171427487	171427487	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:171427487T>C	ENST00000351298.4	-	10	1050	c.924A>G	c.(922-924)ttA>ttG	p.L308L	PLD1_ENST00000340989.4_Silent_p.L308L|PLD1_ENST00000356327.5_Silent_p.L308L|PLD1_ENST00000342215.6_Silent_p.L308L	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	308	PH.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGTTGCATTTTAAAATAAGTG	0.373																																					NSCLC(149;2174 3517 34058)	uc003fhs.2		NaN																	0				ovary(2)|lung(1)	3						c.(922-924)TTA>TTG		phospholipase D1 isoform a	Choline(DB00122)						96.0	95.0	96.0					3																	171427487		2203	4300	6503	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171427487T>C	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.924A>G	3.37:g.171427487T>C						PLD1_uc003fht.2_Silent_p.L308L	p.L308L	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		10	1040	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		308			PH.			Silent	SNP	ENST00000351298.4	37	c.924A>G	CCDS3216.1																																																																																				0.373	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2		NM_002662		39	39	0	0	0	0.00361	0	39	39		
NLGN1	22871	broad.mit.edu	37	3	173998359	173998359	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:173998359C>A	ENST00000457714.1	+	7	2167	c.1738C>A	c.(1738-1740)Cag>Aag	p.Q580K	NLGN1_ENST00000545397.1_Missense_Mutation_p.Q580K|NLGN1_ENST00000361589.4_Missense_Mutation_p.Q580K|NLGN1_ENST00000401917.3_Missense_Mutation_p.Q620K	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	597					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAGATATTCCCAGAAAGACCA	0.403																																						uc003fio.1		NaN																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1738-1740)CAG>AAG		neuroligin 1							106.0	100.0	102.0					3																	173998359		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998359C>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1738C>A	3.37:g.173998359C>A	ENSP00000392500:p.Gln580Lys					NLGN1_uc003fip.1_Missense_Mutation_p.Q580K	p.Q580K	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2161	+	Ovarian(172;0.0025)		597			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1738C>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132103	0.56828	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	N	0.04132	-0.27	0.80722	D	1	B	0.19706	0.038	B	0.15484	0.013	T	0.15896	-1.0421	10	0.46703	T	0.11	.	19.7714	0.96367	0.0:1.0:0.0:0.0	.	580	Q8N2Q7-2	.	K	580;580;580;620	ENSP00000392500:Q580K;ENSP00000354541:Q580K;ENSP00000441108:Q580K;ENSP00000385750:Q620K	ENSP00000354541:Q580K	Q	+	1	0	NLGN1	175481053	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.818000	0.86416	2.666000	0.90696	0.655000	0.94253	CAG		0.403	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3		NM_014932		41	48	1	0	1.30916e-28	0.00361	1.519e-28	41	48		
GAK	2580	broad.mit.edu	37	4	860930	860930	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:860930C>A	ENST00000314167.4	-	21	2796	c.2686G>T	c.(2686-2688)Gta>Tta	p.V896L	GAK_ENST00000511163.1_Missense_Mutation_p.V817L|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	896					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TGCGGGGGTACAGCTGGCCCT	0.701																																						uc003gbm.3		NaN																	0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(2686-2688)GTA>TTA		cyclin G associated kinase							18.0	21.0	20.0					4																	860930		2199	4295	6494	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:860930C>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2686G>T	4.37:g.860930C>A	ENSP00000314499:p.Val896Leu					GAK_uc003gbn.3_Missense_Mutation_p.V817L|GAK_uc010ibk.1_Missense_Mutation_p.V790L|GAK_uc010ibi.2_Missense_Mutation_p.V77L|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.V760L	p.V896L	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	21	2885	-			896					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.2686G>T	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.533|7.533	0.659066|0.659066	0.14645|0.14645	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000510799|ENST00000398567;ENST00000314167;ENST00000511163	.|T;T	.|0.77620	.|-0.61;-1.11	4.66|4.66	-9.33|-9.33	0.00639|0.00639	.|.	.|3.887600	.|0.00789	.|N	.|0.001334	T|T	0.46425|0.46425	0.1392|0.1392	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.04013	.|0.001;0.001;0.0;0.001;0.0	T|T	0.48864|0.48864	-0.8997|-0.8997	5|10	.|0.13470	.|T	.|0.59	0.257|0.257	3.2001|3.2001	0.06646|0.06646	0.2141:0.4513:0.1659:0.1688|0.2141:0.4513:0.1659:0.1688	.|.	.|817;798;817;896;792	.|Q5U4P5;B4DS37;E9PGR2;O14976;Q59HA5	.|.;.;.;GAK_HUMAN;.	F|L	26|172;896;817	.|ENSP00000314499:V896L;ENSP00000421361:V817L	.|ENSP00000314499:V896L	C|V	-|-	2|1	0|0	GAK|GAK	850930|850930	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.026000|0.026000	0.13599|0.13599	-2.358000|-2.358000	0.00611|0.00611	-1.224000|-1.224000	0.01588|0.01588	TGT|GTA		0.701	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1		NM_005255		16	6	1	0	5.35267e-07	0.007413	5.57884e-07	16	6		
RGS12	6002	broad.mit.edu	37	4	3424264	3424264	+	Silent	SNP	G	G	A	rs139780010		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:3424264G>A	ENST00000344733.5	+	11	3904	c.3000G>A	c.(2998-3000)gcG>gcA	p.A1000A	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Silent_p.A398A|RGS12_ENST00000382788.3_Silent_p.A1000A|RGS12_ENST00000338806.4_Silent_p.A352A|RGS12_ENST00000538395.1_Silent_p.A342A|RGS12_ENST00000336727.3_Silent_p.A1000A	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1000	RBD 1. {ECO:0000255|PROSITE- ProRule:PRU00262}.				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)		TCAACGGGGCGGCCGCGGACC	0.672																																						uc003ggw.2		NaN																	0				skin(1)	1						c.(2998-3000)GCG>GCA		regulator of G-protein signalling 12 isoform 1		G	,,	2,4400	4.2+/-10.8	0,2,2199	42.0	45.0	44.0		3000,1056,3000	-7.5	0.9	4	dbSNP_134	44	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	RGS12	NM_002926.3,NM_198227.1,NM_198229.2	,,	0,2,6499	AA,AG,GG		0.0,0.0454,0.0154	,,	1000/1377,352/800,1000/1448	3424264	2,13000	2201	4300	6501	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3424264G>A	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.3000G>A	4.37:g.3424264G>A						RGS12_uc003ggv.2_Silent_p.A1000A|RGS12_uc003ggy.1_Silent_p.A398A|RGS12_uc003ggz.2_Silent_p.A352A|RGS12_uc010icu.1_Silent_p.A199A|RGS12_uc011bvs.1_Silent_p.A342A|RGS12_uc003gha.2_Silent_p.A342A|RGS12_uc010icv.2_Silent_p.A199A|RGS12_uc003ghb.2_Silent_p.A199A	p.A1000A	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	11	3904	+			1000			RBD 1.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.3000G>A	CCDS3366.1																																																																																				0.672	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1		NM_002926		13	44	0	0	0	0.006122	0	13	44		
HGFAC	3083	broad.mit.edu	37	4	3449273	3449273	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:3449273G>A	ENST00000382774.3	+	11	1525	c.1410G>A	c.(1408-1410)acG>acA	p.T470T	HGFAC_ENST00000511533.1_Silent_p.T477T	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	470	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCAACCGCACGACGGACGTGA	0.662																																						uc003ghc.2		NaN																	0				central_nervous_system(2)	2						c.(1408-1410)ACG>ACA		HGF activator preproprotein							180.0	158.0	165.0					4																	3449273		2203	4300	6503	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3449273G>A	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1410G>A	4.37:g.3449273G>A						HGFAC_uc010icw.2_Silent_p.T477T	p.T470T	NM_001528	NP_001519	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	11	1413	+			470			Peptidase S1.		Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.1410G>A	CCDS3369.1																																																																																				0.662	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3				218	127	0	0	0	0.00361	0	218	127		
STK32B	55351	broad.mit.edu	37	4	5468533	5468533	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:5468533G>A	ENST00000282908.5	+	10	1435	c.1013G>A	c.(1012-1014)aGg>aAg	p.R338K	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.R261K|STK32B_ENST00000510398.1_Missense_Mutation_p.R291K	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AACAGATCCAGGGATGGCACA	0.517																																						uc003gih.1		NaN																	0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1012-1014)AGG>AAG		serine/threonine kinase 32B							85.0	82.0	83.0					4																	5468533		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5468533G>A	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.1013G>A	4.37:g.5468533G>A	ENSP00000282908:p.Arg338Lys					STK32B_uc010ida.1_Missense_Mutation_p.R291K	p.R338K	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN			10	1077	+			338						Missense_Mutation	SNP	ENST00000282908.5	37	c.1013G>A	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.286652	0.01387	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.65732	-0.1;0.22;-0.17	4.95	0.824	0.18818	.	0.324362	0.21082	N	0.080465	T	0.27663	0.0680	N	0.03071	-0.42	0.28370	N	0.920034	B	0.02656	0.0	B	0.04013	0.001	T	0.32241	-0.9914	10	0.02654	T	1	.	7.7956	0.29146	0.6976:0.0:0.3024:0.0	.	338	Q9NY57	ST32B_HUMAN	K	338;261;291	ENSP00000282908:R338K;ENSP00000423209:R261K;ENSP00000420984:R291K	ENSP00000282908:R338K	R	+	2	0	STK32B	5519434	0.373000	0.25073	0.625000	0.29200	0.096000	0.18686	0.110000	0.15437	-0.088000	0.12506	-0.234000	0.12200	AGG		0.517	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4		NM_018401		24	15	0	0	0	0.009535	0	24	15		
HTRA3	94031	broad.mit.edu	37	4	8288388	8288388	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:8288388A>C	ENST00000307358.2	+	3	790	c.586A>C	c.(586-588)Aac>Cac	p.N196H	HTRA3_ENST00000382512.3_Missense_Mutation_p.N196H	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	196	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGTGTCCAGCAACAGTGCTGC	0.592																																						uc003gla.2		NaN																	0				ovary(1)	1						c.(586-588)AAC>CAC		HtrA serine peptidase 3 precursor							99.0	93.0	95.0					4																	8288388		2203	4300	6503	SO:0001583	missense	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8288388A>C	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.586A>C	4.37:g.8288388A>C	ENSP00000303766:p.Asn196His					HTRA3_uc003gkz.2_Missense_Mutation_p.N196H	p.N196H	NM_053044	NP_444272	P83110	HTRA3_HUMAN			3	790	+			196			Serine protease.		Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	c.586A>C	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	A	6.398	0.441534	0.12164	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	D;D	0.88124	-2.34;-2.34	4.08	-2.48	0.06423	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.311135	0.29473	N	0.012053	T	0.72534	0.3472	L	0.27053	0.805	0.20307	N	0.999916	B;B	0.25850	0.136;0.052	B;B	0.18871	0.023;0.014	T	0.61676	-0.7014	10	0.72032	D	0.01	-16.2338	4.8759	0.13656	0.4874:0.0:0.0827:0.4299	.	196;196	P83110;P83110-2	HTRA3_HUMAN;.	H	196	ENSP00000303766:N196H;ENSP00000371952:N196H	ENSP00000303766:N196H	N	+	1	0	HTRA3	8339288	0.960000	0.32886	0.080000	0.20451	0.111000	0.19643	2.312000	0.43726	-0.309000	0.08779	0.379000	0.24179	AAC		0.592	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1		NM_053044		5	121	0	0	0	0.001168	0	5	121		
TRMT44	152992	broad.mit.edu	37	4	8469757	8469757	+	Missense_Mutation	SNP	G	G	C	rs35357682	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:8469757G>C	ENST00000389737.4	+	9	1611	c.1611G>C	c.(1609-1611)tgG>tgC	p.W537C	TRMT44_ENST00000513449.2_Missense_Mutation_p.W296C	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	537					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										CACCTGGCTGGGAGCTTTCCC	0.587													G|||	4	0.000798722	0.0	0.0014	5008	,	,		15849	0.0		0.003	False		,,,				2504	0.0					uc003glg.1		NaN																	0					0						c.(922-924)TGG>TGC		hypothetical protein LOC152992 isoform 2		G	CYS/TRP	11,4395	19.1+/-41.9	0,11,2192	43.0	46.0	45.0		1611	1.7	0.0	4	dbSNP_126	45	69,8531	42.2+/-99.7	0,69,4231	yes	missense	METTL19	NM_152544.2	215	0,80,6423	CC,CG,GG		0.8023,0.2497,0.6151	benign	537/758	8469757	80,12926	2203	4300	6503	SO:0001583	missense	152992				tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:8469757G>C	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1611G>C	4.37:g.8469757G>C	ENSP00000374387:p.Trp537Cys					C4orf23_uc003glf.1_Missense_Mutation_p.W296C|C4orf23_uc003glh.1_Missense_Mutation_p.W145C	p.W308C	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN			9	1112	+			537					Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	37	c.924G>C	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	G	7.446	0.641618	0.14451	0.002497	0.008023	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	T;T	0.16897	2.31;2.32	4.49	1.7	0.24286	.	1.232250	0.05370	N	0.535291	T	0.06735	0.0172	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.31024	-0.9958	10	0.56958	D	0.05	1.0191	6.141	0.20259	0.2339:0.1362:0.6298:0.0	rs35357682	537;296	Q8IYL2;Q8IYL2-2	TRM44_HUMAN;.	C	296;537;145	ENSP00000424643:W296C;ENSP00000374387:W537C	ENSP00000285635:W145C	W	+	3	0	METTL19	8520657	.	.	0.000000	0.03702	0.000000	0.00434	.	.	0.502000	0.28037	-0.137000	0.14449	TGG		0.587	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2		NM_152544		15	10	0	0	0	0.008871	0	15	10		
LDB2	9079	broad.mit.edu	37	4	16900017	16900017	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:16900017C>T	ENST00000304523.5	-	1	415	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	LDB2_ENST00000515064.1_Missense_Mutation_p.R31Q|LDB2_ENST00000502640.1_Missense_Mutation_p.R31Q|LDB2_ENST00000441778.2_Missense_Mutation_p.R31Q	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	31					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTCATAGATTCGGTACTCTGG	0.453																																						uc003goz.2		NaN																	0					0						c.(91-93)CGA>CAA		LIM domain binding 2 isoform a							201.0	177.0	185.0					4																	16900017		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16900017C>T	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.92G>A	4.37:g.16900017C>T	ENSP00000306772:p.Arg31Gln					LDB2_uc003gpa.2_Missense_Mutation_p.R31Q|LDB2_uc003gpb.2_Missense_Mutation_p.R31Q|LDB2_uc011bxh.1_Missense_Mutation_p.R31Q|LDB2_uc010iee.2_Missense_Mutation_p.R31Q	p.R31Q	NM_001290	NP_001281	O43679	LDB2_HUMAN			1	408	-			31					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.92G>A	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.841727	0.91197	.	.	ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000506732	.	.	.	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000010	D	0.82884	0.5134	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;0.999	D;D;D;D	0.87578	0.984;0.922;0.981;0.998	D	0.85685	0.1303	9	0.87932	D	0	-4.8897	17.3952	0.87443	0.0:1.0:0.0:0.0	.	31;31;31;31	E9PFI4;G5E9Y7;O43679-2;O43679	.;.;.;LDB2_HUMAN	Q	31;31;31;31;7	.	ENSP00000306772:R31Q	R	-	2	0	LDB2	16509115	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.349000	0.79376	2.325000	0.78763	0.460000	0.39030	CGA		0.453	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2				17	49	0	0	0	0.00499	0	17	49		
FRYL	285527	broad.mit.edu	37	4	48592691	48592691	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:48592691C>G	ENST00000503238.1	-	14	1491	c.1492G>C	c.(1492-1494)Gaa>Caa	p.E498Q	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.E498Q|FRYL_ENST00000507711.1_Missense_Mutation_p.E498Q|FRYL_ENST00000506685.1_Missense_Mutation_p.E204Q|FRYL_ENST00000537810.1_Missense_Mutation_p.E498Q			O94915	FRYL_HUMAN	FRY-like	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACTTTTGCTTCTTCATCTGTC	0.299																																						uc003gyh.1		NaN																	0				skin(1)	1						c.(1492-1494)GAA>CAA		furry-like							79.0	75.0	76.0					4																	48592691		1797	4076	5873	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48592691C>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1492G>C	4.37:g.48592691C>G	ENSP00000426064:p.Glu498Gln					FRYL_uc003gyk.2_Missense_Mutation_p.E498Q	p.E498Q	NM_015030	NP_055845	O94915	FRYL_HUMAN			17	2097	-			498					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.1492G>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653383	0.47362	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T	0.45668	1.88;1.88;1.88;0.89	5.6	5.6	0.85130	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	T	0.54191	0.1843	L	0.38175	1.15	0.80722	D	1	D;P	0.62365	0.991;0.858	D;P	0.74023	0.982;0.704	T	0.37314	-0.9711	10	0.14252	T	0.57	.	19.6103	0.95602	0.0:1.0:0.0:0.0	.	498;498	F2Z2S2;O94915	.;FRYL_HUMAN	Q	498;498;498;498;204	ENSP00000426064:E498Q;ENSP00000351113:E498Q;ENSP00000441114:E498Q;ENSP00000421584:E498Q	ENSP00000351113:E498Q	E	-	1	0	FRYL	48287448	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.755000	0.85180	2.629000	0.89072	0.655000	0.94253	GAA		0.299	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2				13	22	0	0	0	0.004007	0	13	22		
PDGFRA	5156	broad.mit.edu	37	4	55144549	55144549	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:55144549G>C	ENST00000257290.5	+	15	2354	c.2023G>C	c.(2023-2025)Gag>Cag	p.E675Q	FIP1L1_ENST00000507166.1_Missense_Mutation_p.E435Q	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	675	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CATCATCACAGAGTATTGCTT	0.433			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NaN		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(2023-2025)GAG>CAG		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						102.0	102.0	102.0					4																	55144549		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55144549G>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2023G>C	4.37:g.55144549G>C	ENSP00000257290:p.Glu675Gln	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Missense_Mutation_p.E435Q|PDGFRA_uc010igq.1_Missense_Mutation_p.E569Q|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_Missense_Mutation_p.E54Q	p.E675Q	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		15	2354	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		675			Protein kinase.|Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2023G>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241706	0.95272	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.95035	-3.59;-3.59	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32244	U	0.006371	D	0.97508	0.9184	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97414	1.0004	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	675;675	P16234-3;P16234	.;PGFRA_HUMAN	Q	435;675	ENSP00000423325:E435Q;ENSP00000257290:E675Q	ENSP00000423325:E435Q	E	+	1	0	FIP1L1;PDGFRA	54839306	1.000000	0.71417	0.971000	0.41717	0.895000	0.52256	9.790000	0.99075	2.882000	0.98803	0.655000	0.94253	GAG		0.433	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2		NM_006206		17	26	0	0	0	0.00333	0	17	26		
LPHN3	23284	broad.mit.edu	37	4	62800644	62800644	+	Silent	SNP	G	G	T	rs199658315	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:62800644G>T	ENST00000514591.1	+	13	2324	c.1995G>T	c.(1993-1995)gcG>gcT	p.A665A	LPHN3_ENST00000507625.1_Silent_p.A733A|LPHN3_ENST00000508946.1_Silent_p.A665A|LPHN3_ENST00000506746.1_Silent_p.A733A|LPHN3_ENST00000507164.1_Silent_p.A733A|LPHN3_ENST00000508693.1_Silent_p.A733A|LPHN3_ENST00000506700.1_Silent_p.A665A|LPHN3_ENST00000545650.1_Silent_p.A665A|LPHN3_ENST00000504896.1_Silent_p.A665A|LPHN3_ENST00000509896.1_Silent_p.A733A|LPHN3_ENST00000511324.1_Silent_p.A733A|LPHN3_ENST00000512091.2_Silent_p.A665A|LPHN3_ENST00000514996.1_Silent_p.A665A|LPHN3_ENST00000514157.1_Silent_p.A665A|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000506720.1_Silent_p.A733A			Q9HAR2	LPHN3_HUMAN	latrophilin 3	652					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGCTGCGTGCGGCCACCATGT	0.463																																						uc010ihh.2		NaN																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1993-1995)GCG>GCT		latrophilin 3 precursor							100.0	104.0	103.0					4																	62800644		2091	4216	6307	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62800644G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1995G>T	4.37:g.62800644G>T						LPHN3_uc003hcq.3_Silent_p.A665A|LPHN3_uc003hct.2_Silent_p.A58A|LPHN3_uc003hcs.1_Silent_p.A481A	p.A665A	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			11	2168	+			652			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.1995G>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	0.871	-0.732142	0.03135	.	.	ENSG00000150471	ENST00000502815	.	.	.	5.43	-3.72	0.04411	.	.	.	.	.	T	0.39036	0.1063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32375	-0.9909	4	.	.	.	.	2.5135	0.04662	0.3704:0.2095:0.3182:0.1019	.	.	.	.	C	123	.	.	G	+	1	0	LPHN3	62483239	0.115000	0.22152	0.904000	0.35570	0.275000	0.26752	-0.344000	0.07780	-0.763000	0.04658	-1.283000	0.01379	GGC		0.463	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1				7	27	1	0	5.4927e-09	0.004482	5.8158e-09	7	27		
CABS1	85438	broad.mit.edu	37	4	71201390	71201390	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:71201390A>G	ENST00000273936.5	+	1	708	c.634A>G	c.(634-636)Att>Gtt	p.I212V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	212					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGATTCCACTATTCCTGAGGC	0.428																																						uc003hff.2		NaN																	0					0						c.(634-636)ATT>GTT		testis development protein NYD-SP26							73.0	78.0	76.0					4																	71201390		2203	4299	6502	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201390A>G	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.634A>G	4.37:g.71201390A>G	ENSP00000273936:p.Ile212Val						p.I212V	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			1	720	+		all_hematologic(202;0.196)	212					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.634A>G	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	A	0.097	-1.157389	0.01686	.	.	ENSG00000145309	ENST00000273936	T	0.23348	1.91	4.57	-0.843	0.10744	.	0.719055	0.11988	N	0.510145	T	0.09905	0.0243	N	0.17082	0.46	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.36163	-0.9759	10	0.02654	T	1	-26.2099	3.251	0.06814	0.5314:0.0:0.2954:0.1732	.	212	Q96KC9	CABS1_HUMAN	V	212	ENSP00000273936:I212V	ENSP00000273936:I212V	I	+	1	0	CABS1	71235979	0.000000	0.05858	0.041000	0.18516	0.007000	0.05969	0.117000	0.15583	-0.190000	0.10465	-0.290000	0.09829	ATT		0.428	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3		NM_033122		18	26	0	0	0	0.00632	0	18	26		
MUC7	4589	broad.mit.edu	37	4	71347138	71347138	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:71347138C>T	ENST00000304887.5	+	3	867	c.677C>T	c.(676-678)cCa>cTa	p.P226L	MUC7_ENST00000413702.1_Missense_Mutation_p.P226L|MUC7_ENST00000456088.1_Missense_Mutation_p.P226L	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	226	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P226L(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCAGCTCCACCATCTTCCTCA	0.582																																						uc011cat.1		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(676-678)CCA>CTA		mucin 7, secreted precursor							433.0	365.0	388.0					4																	71347138		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347138C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.677C>T	4.37:g.71347138C>T	ENSP00000302021:p.Pro226Leu					MUC7_uc011cau.1_Missense_Mutation_p.P226L|MUC7_uc003hfj.2_Missense_Mutation_p.P226L|uc011cav.1_Intron	p.P226L	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	965	+			226			3.|Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.677C>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	9.454	1.091388	0.20471	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.64618	-0.11;-0.11;-0.11	1.94	-3.88	0.04205	.	.	.	.	.	T	0.39462	0.1079	N	0.19112	0.55	0.09310	N	1	P	0.41784	0.762	B	0.39379	0.298	T	0.28364	-1.0046	8	.	.	.	5.0E-4	6.1445	0.20278	0.5267:0.3242:0.1491:0.0	.	226	Q8TAX7	MUC7_HUMAN	L	226	ENSP00000407422:P226L;ENSP00000400585:P226L;ENSP00000302021:P226L	.	P	+	2	0	MUC7	71381727	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.296000	0.19083	-1.606000	0.01591	-1.058000	0.02302	CCA		0.582	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2		NM_152291		5	244	0	0	0	0.000602	0	5	244		
RASGEF1B	153020	broad.mit.edu	37	4	82355883	82355883	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:82355883C>T	ENST00000264400.2	-	11	1261	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V	RASGEF1B_ENST00000335927.7_Silent_p.V328V|RASGEF1B_ENST00000509081.1_Silent_p.V369V	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	370	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						AGAATGGTATCACAATCTAGA	0.358																																						uc003hmi.1		NaN																	0					0						c.(1108-1110)GTG>GTA		RasGEF domain family, member 1B							50.0	48.0	49.0					4																	82355883		2203	4300	6503	SO:0001819	synonymous_variant	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82355883C>T	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.1110G>A	4.37:g.82355883C>T						RASGEF1B_uc003hmj.1_Silent_p.V369V|RASGEF1B_uc010ijq.1_Silent_p.V328V	p.V370V	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN			11	1254	-			370			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Silent	SNP	ENST00000264400.2	37	c.1110G>A	CCDS34022.1																																																																																				0.358	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1		NM_152545		7	5	0	0	0	0.004482	0	7	5		
MRPS18C	51023	broad.mit.edu	37	4	84382165	84382165	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:84382165T>A	ENST00000295491.4	+	5	445	c.332T>A	c.(331-333)aTt>aAt	p.I111N	FAM175A_ENST00000321945.7_3'UTR|MRPS18C_ENST00000507019.1_Missense_Mutation_p.I83N|MRPS18C_ENST00000507349.1_Missense_Mutation_p.L64I	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	111					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				ACAAAAGCAATTAAGAGAGCT	0.279																																						uc003hor.3		NaN																	0					0						c.(331-333)ATT>AAT		mitochondrial ribosomal protein S18C precursor							67.0	74.0	71.0					4																	84382165		2203	4300	6503	SO:0001583	missense	51023				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr4:84382165T>A		CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			ENSG00000163319	ENSG00000163319		"""Mitochondrial ribosomal proteins / small subunits"""	16633	protein-coding gene	gene with protein product		611983				11279123, 10810093	Standard	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	Q9Y3D5	OTTHUMG00000130430	ENST00000295491.4:c.332T>A	4.37:g.84382165T>A	ENSP00000295491:p.Ile111Asn					MRPS18C_uc011ccu.1_Missense_Mutation_p.I111N|FAM175A_uc003hot.2_3'UTR|FAM175A_uc003hou.2_3'UTR|FAM175A_uc003hov.2_3'UTR	p.I111N	NM_016067	NP_057151	Q9Y3D5	RT18C_HUMAN			5	445	+		Hepatocellular(203;0.114)	111						Missense_Mutation	SNP	ENST00000295491.4	37	c.332T>A	CCDS3604.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	20.6|20.6|20.6	4.018246|4.018246|4.018246	0.75275|0.75275|0.75275	.|.|.	.|.|.	ENSG00000163319|ENSG00000163319|ENSG00000163319	ENST00000295491;ENST00000507019|ENST00000507349;ENST00000505719|ENST00000509970	.|.|.	.|.|.	.|.|.	5.03|5.03|5.03	5.03|5.03|5.03	0.67393|0.67393|0.67393	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.89054|0.89054|0.89054	0.6606|0.6606|0.6606	H|H|H	0.99026|0.99026|0.99026	4.405|4.405|4.405	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|.	0.63880|.|.	0.993|.|.	D|.|.	0.67900|.|.	0.954|.|.	D|D|D	0.93363|0.93363|0.93363	0.6728|0.6728|0.6728	9|6|5	0.87932|0.05620|.	D|T|.	0|0.96|.	-17.2267|-17.2267|-17.2267	14.9268|14.9268|14.9268	0.70884|0.70884|0.70884	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	111|.|.	Q9Y3D5|.|.	RT18C_HUMAN|.|.	N|I|K	111;83|64;88|81	.|.|.	ENSP00000295491:I111N|ENSP00000425268:L88I|.	I|L|N	+|+|+	2|1|3	0|2|2	MRPS18C|MRPS18C|MRPS18C	84601189|84601189|84601189	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.905000|0.905000|0.905000	0.53344|0.53344|0.53344	6.393000|6.393000|6.393000	0.73217|0.73217|0.73217	2.108000|2.108000|2.108000	0.64289|0.64289|0.64289	0.482000|0.482000|0.482000	0.46254|0.46254|0.46254	ATT|TTA|AAT		0.279	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252820.2				7	23	0	0	0	0.006214	0	7	23		
MAPK10	5602	broad.mit.edu	37	4	87080492	87080492	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:87080492C>T	ENST00000359221.3	-	4	721	c.195G>A	c.(193-195)caG>caA	p.Q65Q	MAPK10_ENST00000449047.2_5'UTR|RP11-778J15.1_ENST00000511917.1_RNA|MAPK10_ENST00000395161.2_Silent_p.Q65Q|MAPK10_ENST00000395166.1_Silent_p.Q27Q|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000361569.2_Silent_p.Q65Q|MAPK10_ENST00000395169.3_Silent_p.Q27Q			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	65	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GCTTTAGATTCTGGTAGCGCT	0.443																																						uc003hpq.2		NaN																	0				stomach(1)|breast(1)|central_nervous_system(1)	3						c.(193-195)CAG>CAA		mitogen-activated protein kinase 10 isoform 2							137.0	130.0	133.0					4																	87080492		2203	4300	6503	SO:0001819	synonymous_variant	5602				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:87080492C>T	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.195G>A	4.37:g.87080492C>T						MAPK10_uc010ikg.2_Silent_p.Q27Q|MAPK10_uc003hpr.2_Silent_p.Q27Q|MAPK10_uc003hps.2_Silent_p.Q65Q|MAPK10_uc003hpt.2_Silent_p.Q65Q|MAPK10_uc003hpu.2_Silent_p.Q65Q|MAPK10_uc003hpv.2_5'UTR|MAPK10_uc010ikh.1_RNA|uc003hpw.2_Intron	p.Q65Q	NM_138982	NP_620448	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	3	262	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	65			Protein kinase.		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Silent	SNP	ENST00000359221.3	37	c.195G>A	CCDS34026.1																																																																																				0.443	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2				11	45	0	0	0	0.010729	0	11	45		
TRMT10A	93587	broad.mit.edu	37	4	100479265	100479265	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:100479265C>T	ENST00000273962.3	-	3	601	c.289G>A	c.(289-291)Gtt>Att	p.V97I	TRMT10A_ENST00000394877.3_Missense_Mutation_p.V97I|TRMT10A_ENST00000394876.2_Missense_Mutation_p.V97I	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	97	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										GTGCTATGAACAACATCTCTT	0.353																																						uc003huy.2		NaN																	0				ovary(2)|breast(1)	3						c.(289-291)GTT>ATT		RNA (guanine-9-) methyltransferase domain							241.0	195.0	211.0					4																	100479265		2203	4300	6503	SO:0001583	missense	93587						methyltransferase activity	g.chr4:100479265C>T	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.289G>A	4.37:g.100479265C>T	ENSP00000273962:p.Val97Ile					RG9MTD2_uc003huz.3_Missense_Mutation_p.V97I|RG9MTD2_uc003hva.3_Missense_Mutation_p.V97I	p.V97I	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)	3	602	-			97					B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	c.289G>A	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442105	0.43326	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.43294	2.25;2.25;2.25;1.54;0.95	5.71	5.71	0.89125	.	0.540708	0.21075	N	0.080588	T	0.37046	0.0989	L	0.46947	1.48	0.22266	N	0.999246	B	0.24483	0.104	B	0.18871	0.023	T	0.13980	-1.0489	10	0.21540	T	0.41	-9.709	15.6829	0.77385	0.0:0.8637:0.1363:0.0	.	97	Q8TBZ6	RG9D2_HUMAN	I	97	ENSP00000378343:V97I;ENSP00000273962:V97I;ENSP00000378342:V97I;ENSP00000397551:V97I;ENSP00000423628:V97I	ENSP00000273962:V97I	V	-	1	0	RG9MTD2	100698288	1.000000	0.71417	0.594000	0.28785	0.738000	0.42128	3.105000	0.50314	2.860000	0.98153	0.543000	0.68304	GTT		0.353	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1		NM_152292		13	11	0	0	0	0.00245	0	13	11		
ENPEP	2028	broad.mit.edu	37	4	111441503	111441503	+	Missense_Mutation	SNP	C	C	G	rs138043602	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:111441503C>G	ENST00000265162.5	+	10	2050	c.1708C>G	c.(1708-1710)Cag>Gag	p.Q570E	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	570					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TAACCCTTCTCAGCCCCCTTC	0.413																																						uc003iab.3		NaN																	0				skin(3)|ovary(1)|breast(1)	5						c.(1708-1710)CAG>GAG		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						108.0	97.0	101.0					4																	111441503		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111441503C>G	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1708C>G	4.37:g.111441503C>G	ENSP00000265162:p.Gln570Glu						p.Q570E	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	10	2050	+		Hepatocellular(203;0.217)	570			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1708C>G	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	0.316	-0.964974	0.02249	.	.	ENSG00000138792	ENST00000265162	T	0.01215	5.16	5.93	3.24	0.37175	.	0.675639	0.15533	N	0.257369	T	0.00906	0.0030	N	0.05414	-0.055	0.31179	N	0.702317	B	0.06786	0.001	B	0.06405	0.002	T	0.42015	-0.9476	10	0.02654	T	1	.	19.8532	0.96747	0.0:0.3689:0.6311:0.0	.	570	Q07075	AMPE_HUMAN	E	570	ENSP00000265162:Q570E	ENSP00000265162:Q570E	Q	+	1	0	ENPEP	111660952	0.001000	0.12720	0.470000	0.27216	0.859000	0.49053	-0.053000	0.11846	0.357000	0.24183	0.650000	0.86243	CAG		0.413	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2				21	18	0	0	0	0.005443	0	21	18		
ANK2	287	broad.mit.edu	37	4	114179491	114179491	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:114179491T>C	ENST00000357077.4	+	13	1363	c.1310T>C	c.(1309-1311)gTg>gCg	p.V437A	ANK2_ENST00000506722.1_Missense_Mutation_p.V416A|ANK2_ENST00000394537.3_Missense_Mutation_p.V437A|ANK2_ENST00000264366.6_Missense_Mutation_p.V437A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	437					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAATACATGTGGCTGCCTTC	0.488																																						uc003ibe.3		NaN																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(1309-1311)GTG>GCG		ankyrin 2 isoform 1							143.0	131.0	135.0					4																	114179491		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114179491T>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1310T>C	4.37:g.114179491T>C	ENSP00000349588:p.Val437Ala					ANK2_uc003ibd.3_Missense_Mutation_p.V416A|ANK2_uc003ibf.3_Missense_Mutation_p.V437A|ANK2_uc003ibc.2_Missense_Mutation_p.V413A|ANK2_uc011cgb.1_Missense_Mutation_p.V452A	p.V437A	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	13	1410	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	437			ANK 13.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1310T>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.922189	0.92319	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.65916	-0.1;-0.1;-0.1;-0.18;-0.1;-0.1;-0.1	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.000000	0.49916	D	0.000139	T	0.63248	0.2495	N	0.05280	-0.08	0.80722	D	1	B;P;B;P;P	0.47302	0.302;0.893;0.381;0.497;0.875	B;P;B;P;D	0.71656	0.409;0.75;0.375;0.453;0.974	T	0.72054	-0.4406	10	0.62326	D	0.03	.	16.2147	0.82198	0.0:0.0:0.0:1.0	.	437;437;437;416;416	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	A	416;416;416;452;437;437;437;416	ENSP00000423799:V416A;ENSP00000421011:V416A;ENSP00000421067:V416A;ENSP00000424722:V452A;ENSP00000378044:V437A;ENSP00000349588:V437A;ENSP00000264366:V437A	ENSP00000264366:V437A	V	+	2	0	ANK2	114398940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.003000	0.88520	2.231000	0.72958	0.460000	0.39030	GTG		0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		28	96	0	0	0	0.005524	0	28	96		
SYNPO2	171024	broad.mit.edu	37	4	119951885	119951885	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:119951885C>T	ENST00000429713.2	+	4	2137	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L	SYNPO2_ENST00000434046.2_Missense_Mutation_p.P652L|SYNPO2_ENST00000307142.4_Missense_Mutation_p.P652L|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	652	Pro-rich.					actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGGCCCCAGCCTGCCCCGTGG	0.582																																						uc003icm.3		NaN																	0				ovary(2)	2						c.(1954-1956)CCT>CTT		synaptopodin 2 isoform b							53.0	56.0	55.0					4																	119951885		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119951885C>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1955C>T	4.37:g.119951885C>T	ENSP00000395143:p.Pro652Leu					SYNPO2_uc010ina.2_Missense_Mutation_p.P652L|SYNPO2_uc010inb.2_Missense_Mutation_p.P652L|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.P580L	p.P652L	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN			4	2151	+			652			Pro-rich.		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.1955C>T	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567463	0.65651	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.09255	3.0;3.03;3.01	5.42	5.42	0.78866	.	0.280126	0.31358	N	0.007790	T	0.23330	0.0564	M	0.64997	1.995	0.80722	D	1	D;P;D;D	0.76494	0.999;0.908;0.998;0.998	P;P;P;P	0.57425	0.82;0.575;0.82;0.82	T	0.00207	-1.1919	9	.	.	.	-7.3175	11.8133	0.52195	0.0:0.9193:0.0:0.0807	.	652;652;652;652	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	L	652	ENSP00000306015:P652L;ENSP00000395143:P652L;ENSP00000390965:P652L	.	P	+	2	0	SYNPO2	120171333	0.006000	0.16342	0.996000	0.52242	0.807000	0.45602	1.271000	0.33098	2.530000	0.85305	0.655000	0.94253	CCT		0.582	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1				28	24	0	0	0	0.004289	0	28	24		
PDE5A	8654	broad.mit.edu	37	4	120527872	120527872	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:120527872C>A	ENST00000354960.3	-	2	1052	c.733G>T	c.(733-735)Gca>Tca	p.A245S	PDE5A_ENST00000264805.5_Missense_Mutation_p.A203S|PDE5A_ENST00000394439.1_Missense_Mutation_p.A193S	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	245	GAF 1.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	ACCTCATATGCATCTTTGATG	0.507																																						uc003idh.2		NaN																	0					0						c.(733-735)GCA>TCA		phosphodiesterase 5A isoform 1	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						105.0	100.0	102.0					4																	120527872		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120527872C>A	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.733G>T	4.37:g.120527872C>A	ENSP00000347046:p.Ala245Ser					PDE5A_uc003idf.2_Missense_Mutation_p.A203S|PDE5A_uc003idg.2_Missense_Mutation_p.A193S	p.A245S	NM_001083	NP_001074	O76074	PDE5A_HUMAN			2	888	-			245			GAF 1.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.733G>T	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216683	0.95104	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805;ENST00000420633	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.46	5.46	0.80206	GAF (2);	0.372600	0.29522	N	0.011916	D	0.84370	0.5457	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.982	D	0.85473	0.1174	10	0.52906	T	0.07	.	19.3169	0.94218	0.0:1.0:0.0:0.0	.	245;203	O76074;O76074-2	PDE5A_HUMAN;.	S	245;193;203;193	ENSP00000347046:A245S;ENSP00000377957:A193S;ENSP00000264805:A203S;ENSP00000416309:A193S	ENSP00000264805:A203S	A	-	1	0	PDE5A	120747320	1.000000	0.71417	0.919000	0.36401	0.990000	0.78478	7.584000	0.82572	2.557000	0.86248	0.655000	0.94253	GCA		0.507	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1		NM_001083		39	44	1	0	2.29192e-23	0.00361	2.63175e-23	39	44		
ANKRD50	57182	broad.mit.edu	37	4	125593360	125593360	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:125593360G>A	ENST00000504087.1	-	4	2109	c.1072C>T	c.(1072-1074)Ctt>Ttt	p.L358F	ANKRD50_ENST00000515641.1_Missense_Mutation_p.L179F	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	358										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CAGGCTGCAAGAATCACATTC	0.383																																						uc003ifg.3		NaN																	0				central_nervous_system(1)	1						c.(1072-1074)CTT>TTT		ankyrin repeat domain 50							111.0	111.0	111.0					4																	125593360		2202	4300	6502	SO:0001583	missense	57182							g.chr4:125593360G>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1072C>T	4.37:g.125593360G>A	ENSP00000425658:p.Leu358Phe					ANKRD50_uc011cgo.1_Missense_Mutation_p.L179F|ANKRD50_uc010inw.2_Missense_Mutation_p.L358F	p.L358F	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	1338	-			358					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.1072C>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088334	0.76756	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.76709	-0.88;-1.04	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	D	0.87470	0.6185	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.88156	0.2854	10	0.87932	D	0	.	19.1267	0.93388	0.0:0.0:1.0:0.0	.	358	Q9ULJ7	ANR50_HUMAN	F	358;179	ENSP00000425658:L358F;ENSP00000425355:L179F	ENSP00000425658:L358F	L	-	1	0	ANKRD50	125812810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.031000	0.70911	2.753000	0.94483	0.555000	0.69702	CTT		0.383	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1		NM_020337		25	50	0	0	0	0.010818	0	25	50		
INPP4B	8821	broad.mit.edu	37	4	143007320	143007320	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:143007320C>T	ENST00000513000.1	-	25	2897	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	INPP4B_ENST00000262992.4_Missense_Mutation_p.E822K|INPP4B_ENST00000508116.1_Missense_Mutation_p.E822K|INPP4B_ENST00000509777.1_Missense_Mutation_p.E822K|INPP4B_ENST00000308502.4_Missense_Mutation_p.E822K	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	822					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)					CACATAATTTCTACATTCTTT	0.358																																						uc003iix.3		NaN																	0				ovary(1)|lung(1)	2						c.(2464-2466)GAA>AAA		inositol polyphosphate-4-phosphatase, type II,							116.0	117.0	116.0					4																	143007320		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143007320C>T	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.2464G>A	4.37:g.143007320C>T	ENSP00000425487:p.Glu822Lys					INPP4B_uc003iiw.3_Missense_Mutation_p.E822K|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.E637K|INPP4B_uc011cho.1_RNA	p.E822K	NM_003866	NP_003857	O15327	INP4B_HUMAN			25	3059	-	all_hematologic(180;0.158)		822					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2464G>A	CCDS3757.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.095233|5.095233	0.94197|0.94197	.|.	.|.	ENSG00000109452|ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000511838|ENST00000542702	T;T;T;T;T;T|.	0.24723|.	1.85;1.85;1.85;1.85;1.84;1.86|.	5.91|5.91	5.07|5.07	0.68467|0.68467	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68513|0.68513	0.3009|0.3009	L|L	0.53617|0.53617	1.68|1.68	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.73380|.	0.98|.	T|T	0.66728|0.66728	-0.5850|-0.5850	10|5	0.24483|.	T|.	0.36|.	.|.	15.1828|15.1828	0.72972|0.72972	0.0:0.9327:0.0:0.0673|0.0:0.9327:0.0:0.0673	.|.	822|.	O15327|.	INP4B_HUMAN|.	K|K	822;822;822;822;822;637|636	ENSP00000425487:E822K;ENSP00000262992:E822K;ENSP00000308441:E822K;ENSP00000423954:E822K;ENSP00000422793:E822K;ENSP00000426207:E637K|.	ENSP00000262992:E822K|.	E|R	-|-	1|2	0|0	INPP4B|INPP4B	143226770|143226770	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	7.341000|7.341000	0.79300|0.79300	1.503000|1.503000	0.48686|0.48686	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.358	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1		NM_003866		11	8	0	0	0	0.004007	0	11	8		
GUCY1A3	2982	broad.mit.edu	37	4	156634314	156634314	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:156634314C>T	ENST00000296518.7	+	7	1360	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S126L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S384L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S384L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S384L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S384L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S384L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	384					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTTTGGGGTCACCCTGTGTG	0.428																																						uc003iov.2		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1150-1152)TCA>TTA		guanylate cyclase 1, soluble, alpha 3 isoform A							84.0	81.0	82.0					4																	156634314		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156634314C>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1151C>T	4.37:g.156634314C>T	ENSP00000296518:p.Ser384Leu					GUCY1A3_uc010iqc.2_Missense_Mutation_p.S384L|GUCY1A3_uc003iow.2_Missense_Mutation_p.S384L|GUCY1A3_uc010iqd.2_Missense_Mutation_p.S383L|GUCY1A3_uc003iox.2_Missense_Mutation_p.S384L|GUCY1A3_uc003ioz.2_Missense_Mutation_p.S149L|GUCY1A3_uc003ioy.2_Missense_Mutation_p.S384L|GUCY1A3_uc010iqe.2_Missense_Mutation_p.S149L|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.S384L	p.S384L	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	8	1687	+	all_hematologic(180;0.24)	Renal(120;0.0854)	384					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1151C>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191459	0.94923	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	6.03	6.03	0.97812	Haem NO binding associated (1);	0.000000	0.52532	D	0.000068	D	0.96803	0.8956	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.96837	0.9615	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	384;384	B3KU69;Q02108	.;GCYA3_HUMAN	L	384;384;384;384;126;384;384	ENSP00000424361:S384L;ENSP00000421493:S384L;ENSP00000426968:S384L;ENSP00000412201:S384L;ENSP00000377418:S126L;ENSP00000296518:S384L;ENSP00000426040:S384L	ENSP00000296518:S384L	S	+	2	0	GUCY1A3	156853764	1.000000	0.71417	0.786000	0.31890	0.993000	0.82548	7.461000	0.80834	2.861000	0.98227	0.655000	0.94253	TCA		0.428	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2				18	32	0	0	0	0.010504	0	18	32		
TMEM144	55314	broad.mit.edu	37	4	159174635	159174635	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:159174635A>G	ENST00000296529.6	+	13	1514	c.994A>G	c.(994-996)Atc>Gtc	p.I332V	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	332						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TGCATTTTGCATCATCTTGAC	0.378																																						uc003ipx.2		NaN																	0					0						c.(994-996)ATC>GTC		transmembrane protein 144							167.0	159.0	162.0					4																	159174635		2203	4300	6503	SO:0001583	missense	55314					integral to membrane		g.chr4:159174635A>G	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.994A>G	4.37:g.159174635A>G	ENSP00000296529:p.Ile332Val					TMEM144_uc010iqi.2_RNA	p.I332V	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	13	1514	+	all_hematologic(180;0.24)	Renal(120;0.0854)	332			Helical; (Potential).		D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	ENST00000296529.6	37	c.994A>G	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	A	9.944	1.218298	0.22373	.	.	ENSG00000164124	ENST00000296529	T	0.44083	0.93	5.49	4.31	0.51392	.	0.313579	0.36591	N	0.002520	T	0.24044	0.0582	N	0.21194	0.64	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.05616	-1.0874	10	0.07990	T	0.79	-8.3926	8.3264	0.32160	0.9098:0.0:0.0902:0.0	.	332	Q7Z5S9	TM144_HUMAN	V	332	ENSP00000296529:I332V	ENSP00000296529:I332V	I	+	1	0	TMEM144	159394085	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.406000	0.34646	1.021000	0.39600	0.374000	0.22700	ATC		0.378	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1		NM_018342		27	62	0	0	0	0.00623	0	27	62		
ADAM29	11086	broad.mit.edu	37	4	175898028	175898028	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:175898028C>G	ENST00000359240.3	+	5	2022	c.1352C>G	c.(1351-1353)tCa>tGa	p.S451*	ADAM29_ENST00000514159.1_Nonsense_Mutation_p.S451*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.S451*|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.S451*|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	451	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCCTACCATCAGGGAAAGTG	0.443																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NaN																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(1351-1353)TCA>TGA		ADAM metallopeptidase domain 29 preproprotein							131.0	120.0	123.0					4																	175898028		2203	4300	6503	SO:0001587	stop_gained	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898028C>G	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1352C>G	4.37:g.175898028C>G	ENSP00000352177:p.Ser451*					ADAM29_uc003iud.2_Nonsense_Mutation_p.S451*|ADAM29_uc010irr.2_Nonsense_Mutation_p.S451*|ADAM29_uc011cki.1_Nonsense_Mutation_p.S451*	p.S451*	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2022	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	451			Disintegrin.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Nonsense_Mutation	SNP	ENST00000359240.3	37	c.1352C>G	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	37	6.102166	0.97286	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	.	.	.	3.69	3.69	0.42338	.	0.575567	0.12991	U	0.422489	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4393	0.38659	0.0:0.7825:0.2175:0.0	.	.	.	.	X	451	.	.	S	+	2	0	ADAM29	176134603	0.006000	0.16342	0.999000	0.59377	0.100000	0.18952	0.712000	0.25779	2.351000	0.79841	0.643000	0.83706	TCA		0.443	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding					15	29	0	0	0	0.002299	0	15	29		
WDR17	116966	broad.mit.edu	37	4	177089822	177089822	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:177089822G>A	ENST00000280190.4	+	25	3263	c.3107G>A	c.(3106-3108)aGg>aAg	p.R1036K	WDR17_ENST00000508596.1_Splice_Site|WDR17_ENST00000393643.2_Missense_Mutation_p.R1012K|WDR17_ENST00000507824.2_Splice_Site			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1036										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TACGTTAACAGGAATTTGGCA	0.338																																						uc003iuj.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(3106-3108)AGG>AAG		WD repeat domain 17 isoform 1							138.0	131.0	133.0					4																	177089822		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177089822G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3107G>A	4.37:g.177089822G>A	ENSP00000280190:p.Arg1036Lys					WDR17_uc003iuk.2_Missense_Mutation_p.R1012K|WDR17_uc003ium.3_Splice_Site_p.W997_splice|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Splice_Site_p.R247_splice	p.R1036K	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	25	3263	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1036					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.3107G>A	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.78|11.78	1.741874|1.741874	0.30865|0.30865	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000443118|ENST00000393643;ENST00000280190;ENST00000507824	.|T;T	.|0.57752	.|0.44;0.38	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|0.107842	.|0.64402	.|D	.|0.000009	.|T	.|0.46249	.|0.1383	L|L	0.53249|0.53249	1.67|1.67	0.58432|0.58432	D|D	0.999999|0.999999	.|B	.|0.31077	.|0.307	.|B	.|0.27380	.|0.079	.|T	.|0.44467	.|-0.9326	.|10	.|0.07175	.|T	.|0.84	.|-15.2795	18.6954|18.6954	0.91599|0.91599	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1036	.|Q8IZU2	.|WDR17_HUMAN	.|K	-1|1012;1036;1012	.|ENSP00000377258:R1012K;ENSP00000280190:R1036K	.|ENSP00000280190:R1036K	.|R	+|+	.|2	.|0	WDR17|WDR17	177326816|177326816	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.057000|0.057000	0.15508|0.15508	8.926000|8.926000	0.92839|0.92839	2.647000|2.647000	0.89833|0.89833	0.591000|0.591000	0.81541|0.81541	.|AGG		0.338	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2				7	43	0	0	0	0.010729	0	7	43		
CDKN2AIP	55602	broad.mit.edu	37	4	184367945	184367945	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:184367945C>T	ENST00000504169.1	+	3	1315	c.1108C>T	c.(1108-1110)Cta>Tta	p.L370L	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	370	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGCTGCATCACTACTAGCTTC	0.488																																						uc003ivp.1		NaN																	0					0						c.(1108-1110)CTA>TTA		CDKN2A interacting protein							86.0	87.0	87.0					4																	184367945		2203	4300	6503	SO:0001819	synonymous_variant	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367945C>T	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.1108C>T	4.37:g.184367945C>T						CDKN2AIP_uc003ivq.1_Silent_p.L115L	p.L370L	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	1270	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	370			Ser-rich.		Q8TBM5|Q9NYH0	Silent	SNP	ENST00000504169.1	37	c.1108C>T	CCDS34110.1																																																																																				0.488	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1		NM_017632		21	38	0	0	0	0.00632	0	21	38		
SORBS2	8470	broad.mit.edu	37	4	186544731	186544731	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:186544731C>G	ENST00000284776.7	-	13	2349	c.1840G>C	c.(1840-1842)Gag>Cag	p.E614Q	SORBS2_ENST00000355634.5_Missense_Mutation_p.E714Q|SORBS2_ENST00000418609.1_Missense_Mutation_p.E518Q|SORBS2_ENST00000431808.1_Missense_Mutation_p.E614Q|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000393528.3_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	614					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GATGACCCCTCTAGGTGAATG	0.537																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NaN																	0				ovary(1)	1						c.(1840-1842)GAG>CAG		sorbin and SH3 domain containing 2 isoform 2							59.0	55.0	56.0					4																	186544731		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544731C>G		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1840G>C	4.37:g.186544731C>G	ENSP00000284776:p.Glu614Gln					SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.E714Q|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.E518Q|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.E728Q|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.E614Q	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	2698	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	614					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1840G>C	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414159	0.62511	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.46819	0.95;0.95;0.86;0.94	5.88	5.88	0.94601	.	0.090334	0.85682	D	0.000000	T	0.67970	0.2950	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;P	0.77557	0.99;0.986;0.901	T	0.68047	-0.5512	10	0.87932	D	0	-24.3201	20.2405	0.98372	0.0:1.0:0.0:0.0	.	518;714;614	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	Q	614;614;518;714	ENSP00000284776:E614Q;ENSP00000411764:E614Q;ENSP00000397482:E518Q;ENSP00000347852:E714Q	ENSP00000284776:E614Q	E	-	1	0	SORBS2	186781725	1.000000	0.71417	0.738000	0.30950	0.144000	0.21451	7.818000	0.86416	2.797000	0.96272	0.561000	0.74099	GAG		0.537	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3		NM_003603		29	23	0	0	0	0.003271	0	29	23		
DNAH5	1767	broad.mit.edu	37	5	13753590	13753590	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:13753590G>A	ENST00000265104.4	-	63	10728	c.10624C>T	c.(10624-10626)Ctg>Ttg	p.L3542L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3542					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATTTAACAGAAGATCACGA	0.373									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(10624-10626)CTG>TTG		dynein, axonemal, heavy chain 5							98.0	103.0	102.0					5																	13753590		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13753590G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10624C>T	5.37:g.13753590G>A						DNAH5_uc003jfc.2_5'UTR	p.L3542L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			63	10666	-	Lung NSC(4;0.00476)		3542					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.10624C>T	CCDS3882.1																																																																																				0.373	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		33	68	0	0	0	0.007835	0	33	68		
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.Y832Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.587										HNSCC(3;0.000094)																												uc003jgo.2		NaN																	1	Substitution - coding silent(1)		endometrium(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2494-2496)TAT>TAC		PR domain containing 9							48.0	60.0	56.0					5																	23527693		2166	4285	6451	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527693T>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2496T>C	5.37:g.23527693T>C		HNSCC(3;0.000094)					p.Y832Y	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2678	+			832			C2H2-type 13.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2496T>C	CCDS43307.1																																																																																				0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1		NM_020227		6	161	0	0	0	0.006214	0	6	161		
DROSHA	29102	broad.mit.edu	37	5	31431748	31431748	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:31431748C>T	ENST00000511367.2	-	25	3324	c.3080G>A	c.(3079-3081)gGg>gAg	p.G1027E	DROSHA_ENST00000442743.1_Missense_Mutation_p.G990E|DROSHA_ENST00000513349.1_Missense_Mutation_p.G990E|DROSHA_ENST00000344624.3_Missense_Mutation_p.G1027E	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1027	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AAGGTCAGGCCCGTGAGCATA	0.373																																						uc003jhg.2		NaN																	0					0						c.(3079-3081)GGG>GAG		ribonuclease III, nuclear isoform 1							131.0	125.0	127.0					5																	31431748		1915	4124	6039	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31431748C>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3080G>A	5.37:g.31431748C>T	ENSP00000425979:p.Gly1027Glu					RNASEN_uc003jhh.2_Missense_Mutation_p.G990E|RNASEN_uc003jhi.2_Missense_Mutation_p.G990E	p.G1027E	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			25	3439	-			1027			Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.3080G>A	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	35	5.437588	0.96168	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	5.82	5.82	0.92795	Ribonuclease III (5);	0.163924	0.53938	D	0.000054	D	0.94374	0.8191	M	0.88241	2.94	0.80722	D	1	D;P	0.59357	0.985;0.586	P;P	0.61940	0.896;0.665	D	0.94672	0.7857	10	0.87932	D	0	-22.2052	20.1001	0.97870	0.0:1.0:0.0:0.0	.	990;1027	E7EMP9;Q9NRR4	.;RNC_HUMAN	E	1027;1027;990;990;952;983	ENSP00000425979:G1027E;ENSP00000339845:G1027E;ENSP00000409335:G990E;ENSP00000424161:G990E	ENSP00000265075:G952E	G	-	2	0	DROSHA	31467505	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.521000	0.81832	2.760000	0.94817	0.655000	0.94253	GGG		0.373	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3		NM_013235		30	48	0	0	0	0.011902	0	30	48		
C9	735	broad.mit.edu	37	5	39288867	39288867	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:39288867C>G	ENST00000263408.4	-	10	1698	c.1603G>C	c.(1603-1605)Gag>Cag	p.E535Q		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	535	EGF-like.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCAATTCCCTCAAATTTGAAT	0.348																																						uc003jlv.3		NaN																	0					0						c.(1603-1605)GAG>CAG		complement component 9 precursor							138.0	131.0	134.0					5																	39288867		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39288867C>G		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1603G>C	5.37:g.39288867C>G	ENSP00000263408:p.Glu535Gln						p.E535Q	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		10	1692	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	535			EGF-like.			Missense_Mutation	SNP	ENST00000263408.4	37	c.1603G>C	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574579	0.28092	.	.	ENSG00000113600	ENST00000263408	T	0.23552	1.9	5.79	-9.8	0.00490	.	0.746297	0.12928	N	0.427571	T	0.13457	0.0326	L	0.39566	1.225	0.09310	N	1	B	0.22346	0.068	B	0.15870	0.014	T	0.19679	-1.0298	10	0.16896	T	0.51	-1.7845	10.769	0.46310	0.0:0.2955:0.1545:0.55	.	535	P02748	CO9_HUMAN	Q	535	ENSP00000263408:E535Q	ENSP00000263408:E535Q	E	-	1	0	C9	39324624	0.949000	0.32298	0.000000	0.03702	0.019000	0.09904	0.095000	0.15127	-1.630000	0.01545	-0.150000	0.13652	GAG		0.348	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3				50	82	0	0	0	0.00361	0	50	82		
PAIP1	10605	broad.mit.edu	37	5	43547879	43547879	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:43547879A>T	ENST00000306846.3	-	3	804	c.572T>A	c.(571-573)gTt>gAt	p.V191D	PAIP1_ENST00000436644.2_Missense_Mutation_p.V112D|PAIP1_ENST00000338972.4_Missense_Mutation_p.V79D|PAIP1_ENST00000514514.1_Missense_Mutation_p.V112D	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	191	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ATCTGTTGTAACACAACCATT	0.408																																						uc003job.2		NaN																	0				ovary(1)	1						c.(571-573)GTT>GAT		poly(A) binding protein interacting protein 1							99.0	97.0	98.0					5																	43547879		2203	4300	6503	SO:0001583	missense	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43547879A>T	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.572T>A	5.37:g.43547879A>T	ENSP00000302768:p.Val191Asp					PAIP1_uc003joa.2_Missense_Mutation_p.V112D|PAIP1_uc010ivp.2_Missense_Mutation_p.V112D|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.V79D	p.V191D	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN			3	819	-	Lung NSC(6;2.07e-05)		191			MIF4G.		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.572T>A	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.493534	0.84962	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537;ENST00000515338	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.59	5.59	0.84812	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.56523	-0.7965	10	0.72032	D	0.01	-20.1226	15.7651	0.78120	1.0:0.0:0.0:0.0	.	112;191;112	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	D	191;112;79;112;79;79;79	ENSP00000302768:V191D;ENSP00000387729:V112D;ENSP00000339622:V79D;ENSP00000425084:V112D;ENSP00000425675:V79D;ENSP00000425736:V79D	ENSP00000302768:V191D	V	-	2	0	PAIP1	43583636	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.672000	0.83956	2.124000	0.65301	0.533000	0.62120	GTT		0.408	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1		NM_006451		56	63	0	0	0	0.00361	0	56	63		
HCN1	348980	broad.mit.edu	37	5	45303881	45303881	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:45303881C>A	ENST00000303230.4	-	6	1495	c.1438G>T	c.(1438-1440)Gat>Tat	p.D480Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	480					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AAATTAGGATCCGCATTAGCA	0.383																																						uc003jok.2		NaN																	0				ovary(1)	1						c.(1438-1440)GAT>TAT		hyperpolarization activated cyclic							113.0	116.0	115.0					5																	45303881		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303881C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1438G>T	5.37:g.45303881C>A	ENSP00000307342:p.Asp480Tyr						p.D480Y	NM_021072	NP_066550	O60741	HCN1_HUMAN			6	1463	-			480			cAMP.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1438G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805181	0.90623	.	.	ENSG00000164588	ENST00000303230	D	0.97186	-4.28	5.62	5.62	0.85841	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.64402	D	0.000001	D	0.98689	0.9560	M	0.89601	3.045	0.80722	D	1	D	0.71674	0.998	D	0.65233	0.933	D	0.99312	1.0904	10	0.87932	D	0	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	480	O60741	HCN1_HUMAN	Y	480	ENSP00000307342:D480Y	ENSP00000307342:D480Y	D	-	1	0	HCN1	45339638	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.776000	0.85560	2.809000	0.96659	0.655000	0.94253	GAT		0.383	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1		NM_021072		60	88	1	0	1.21826e-31	0.00361	1.42594e-31	60	88		
GPR98	84059	broad.mit.edu	37	5	90101230	90101230	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:90101230G>C	ENST00000405460.2	+	72	14887	c.14791G>C	c.(14791-14793)Gaa>Caa	p.E4931Q	GPR98_ENST00000425867.2_Missense_Mutation_p.E592Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4931					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCTGGGTTAGAAATTCCTGA	0.453																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(14791-14793)GAA>CAA		G protein-coupled receptor 98 precursor							108.0	101.0	103.0					5																	90101230		1863	4103	5966	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90101230G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14791G>C	5.37:g.90101230G>C	ENSP00000384582:p.Glu4931Gln					GPR98_uc003kjt.2_Missense_Mutation_p.E2637Q|GPR98_uc003kjw.2_Missense_Mutation_p.E592Q	p.E4931Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	72	14887	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4931			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.14791G>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348465	0.24426	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.28069	1.68;1.63	5.27	4.41	0.53225	.	0.291985	0.38436	N	0.001700	T	0.25754	0.0627	L	0.45581	1.43	0.23956	N	0.996359	P;B;P	0.37330	0.455;0.261;0.59	B;B;B	0.36244	0.11;0.069;0.22	T	0.12553	-1.0543	9	.	.	.	.	9.9562	0.41668	0.0916:0.0:0.9084:0.0	.	592;4931;592	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	Q	4931;4931;592	ENSP00000384582:E4931Q;ENSP00000392618:E592Q	.	E	+	1	0	GPR98	90136986	0.037000	0.19845	0.097000	0.21041	0.768000	0.43524	1.561000	0.36342	1.449000	0.47699	0.561000	0.74099	GAA		0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		38	2	0	0	0	0.00361	0	38	2		
GPR98	84059	broad.mit.edu	37	5	90106817	90106817	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:90106817G>A	ENST00000405460.2	+	74	15836	c.15740G>A	c.(15739-15741)aGa>aAa	p.R5247K	GPR98_ENST00000425867.2_Missense_Mutation_p.R908K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5247					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTATCCGAAGAACTGGTGGG	0.418																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(15739-15741)AGA>AAA		G protein-coupled receptor 98 precursor							132.0	121.0	125.0					5																	90106817		1905	4124	6029	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106817G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15740G>A	5.37:g.90106817G>A	ENSP00000384582:p.Arg5247Lys					GPR98_uc003kjt.2_Missense_Mutation_p.R2953K|GPR98_uc003kjw.2_Missense_Mutation_p.R908K	p.R5247K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15836	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5247			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.15740G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.243204	0.58995	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.40756	1.02;1.02	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	M	0.63843	1.955	0.51767	D	0.999934	D;D;D	0.89917	1.0;0.976;1.0	D;P;D	0.87578	0.996;0.6;0.998	T	0.60919	-0.7167	9	.	.	.	.	19.389	0.94573	0.0:0.0:1.0:0.0	.	908;5247;908	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	K	5247;5247;908	ENSP00000384582:R5247K;ENSP00000392618:R908K	.	R	+	2	0	GPR98	90142573	1.000000	0.71417	0.991000	0.47740	0.940000	0.58332	7.874000	0.87199	2.593000	0.87608	0.655000	0.94253	AGA		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		31	0	0	0	0	0.012213	0	31	0		
DMXL1	1657	broad.mit.edu	37	5	118440935	118440935	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:118440935A>G	ENST00000311085.8	+	4	426	c.346A>G	c.(346-348)Ata>Gta	p.I116V	DMXL1_ENST00000539542.1_Missense_Mutation_p.I116V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	116										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGCACACAATATAACCTGGGA	0.318																																						uc003ksd.2		NaN																	0				ovary(2)	2						c.(346-348)ATA>GTA		Dmx-like 1							73.0	75.0	74.0					5																	118440935		2202	4297	6499	SO:0001583	missense	1657							g.chr5:118440935A>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.346A>G	5.37:g.118440935A>G	ENSP00000309690:p.Ile116Val					DMXL1_uc010jcl.1_Missense_Mutation_p.I116V|DMXL1_uc003ksc.1_Missense_Mutation_p.I116V	p.I116V	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	4	527	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	116			WD 1.			Missense_Mutation	SNP	ENST00000311085.8	37	c.346A>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.522732	0.44866	.	.	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.64438	2.86;-0.1;2.86	5.88	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.101229	0.64402	D	0.000002	T	0.45677	0.1354	N	0.25647	0.755	0.32593	N	0.526877	B;B	0.30146	0.27;0.177	B;B	0.30316	0.114;0.053	T	0.54846	-0.8232	10	0.48119	T	0.1	-14.7968	6.4811	0.22063	0.5048:0.1294:0.0:0.3658	.	116;116	F5H269;Q9Y485	.;DMXL1_HUMAN	V	116	ENSP00000427692:I116V;ENSP00000309690:I116V;ENSP00000439479:I116V	ENSP00000309690:I116V	I	+	1	0	DMXL1	118468834	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.144000	0.42197	1.024000	0.39682	0.477000	0.44152	ATA		0.318	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1		NM_005509		27	23	0	0	0	0.004289	0	27	23		
FBN2	2201	broad.mit.edu	37	5	127674745	127674745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:127674745C>A	ENST00000508053.1	-	32	4326	c.3352G>T	c.(3352-3354)Gag>Tag	p.E1118*	FBN2_ENST00000508989.1_Nonsense_Mutation_p.E1085*|FBN2_ENST00000262464.4_Nonsense_Mutation_p.E1118*|FBN2_ENST00000507835.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	1118	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCCTGCACTCGTCGATGTCT	0.458																																						uc003kuu.2		NaN																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(3352-3354)GAG>TAG		fibrillin 2 precursor							78.0	71.0	73.0					5																	127674745		2203	4300	6503	SO:0001587	stop_gained	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127674745C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3352G>T	5.37:g.127674745C>A	ENSP00000424571:p.Glu1118*					FBN2_uc003kuv.2_Nonsense_Mutation_p.E1085*	p.E1118*	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	26	3791	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1118			EGF-like 16; calcium-binding.		B4DU01|Q59ES6	Nonsense_Mutation	SNP	ENST00000508053.1	37	c.3352G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	48	13.896764	0.99769	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	.	.	.	5.13	5.13	0.70059	.	0.190428	0.35407	N	0.003238	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7436	0.91784	0.0:1.0:0.0:0.0	.	.	.	.	X	1118;1118;1085	.	ENSP00000262464:E1118X	E	-	1	0	FBN2	127702644	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.606000	0.82863	2.819000	0.97034	0.585000	0.79938	GAG		0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999		26	28	1	0	1.67305e-13	0.00623	1.83567e-13	26	28		
LECT2	3950	broad.mit.edu	37	5	135288607	135288607	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:135288607C>A	ENST00000274507.1	-	2	296	c.96G>T	c.(94-96)gaG>gaT	p.E32D	LECT2_ENST00000514447.2_Missense_Mutation_p.E32D|LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000522943.1_Missense_Mutation_p.E32D|FBXL21_ENST00000467490.1_RNA	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	32					chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)			large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACGTCCGGATCTCATTGGAAG	0.507																																						uc003lbe.1		NaN																	0				ovary(1)	1						c.(94-96)GAG>GAT		leukocyte cell-derived chemotaxin 2 precursor							182.0	170.0	174.0					5																	135288607		2203	4300	6503	SO:0001583	missense	3950				chemotaxis|skeletal system development	cytoplasm|extracellular space		g.chr5:135288607C>A	AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000274507.1:c.96G>T	5.37:g.135288607C>A	ENSP00000274507:p.Glu32Asp						p.E32D	NM_002302	NP_002293	O14960	LECT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	297	-			32					B2RA90|O14565|Q52M49	Missense_Mutation	SNP	ENST00000274507.1	37	c.96G>T	CCDS4190.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514751	0.44763	.	.	ENSG00000145826	ENST00000522943;ENST00000274507;ENST00000514447	T;T;T	0.09538	2.97;2.97;2.97	5.96	3.78	0.43462	.	0.382185	0.30269	N	0.010014	T	0.07954	0.0199	L	0.44542	1.39	0.27575	N	0.949778	B	0.23442	0.085	B	0.21151	0.033	T	0.19582	-1.0301	10	0.32370	T	0.25	-27.6002	2.8472	0.05547	0.2431:0.5057:0.0:0.2511	.	32	O14960	LECT2_HUMAN	D	32	ENSP00000429618:E32D;ENSP00000274507:E32D;ENSP00000421123:E32D	ENSP00000274507:E32D	E	-	3	2	LECT2	135316506	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.261000	0.32980	1.435000	0.47434	0.650000	0.86243	GAG		0.507	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251209.1		NM_002302		8	283	1	0	6.40141e-05	0.010729	6.55898e-05	8	283		
FAM13B	51306	broad.mit.edu	37	5	137347541	137347541	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:137347541C>G	ENST00000033079.3	-	5	915	c.464G>C	c.(463-465)aGa>aCa	p.R155T	FAM13B_ENST00000420893.2_Missense_Mutation_p.R155T|FAM13B_ENST00000425075.2_Missense_Mutation_p.R37T	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	155	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						GGCTAAAAATCTACACAGAAA	0.338																																						uc003lbz.2		NaN																	0					0						c.(463-465)AGA>ACA		hypothetical protein LOC51306 isoform 1							46.0	48.0	48.0					5																	137347541		2203	4300	6503	SO:0001583	missense	51306				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137347541C>G	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.464G>C	5.37:g.137347541C>G	ENSP00000033079:p.Arg155Thr					FAM13B_uc003lcb.2_Missense_Mutation_p.R37T|FAM13B_uc003lca.2_Missense_Mutation_p.R155T	p.R155T	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN			5	998	-			155			Rho-GAP.		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.464G>C	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125588	0.56721	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.19250	2.16;2.16;2.16	5.52	4.65	0.58169	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.106916	0.64402	D	0.000009	T	0.31389	0.0795	L	0.45698	1.435	0.58432	D	0.99999	B;D;B	0.56746	0.145;0.977;0.379	B;P;B	0.55923	0.068;0.787;0.161	T	0.02477	-1.1153	10	0.52906	T	0.07	-6.7607	11.4504	0.50149	0.0:0.8426:0.0:0.1574	.	37;155;155	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	T	155;37;155	ENSP00000033079:R155T;ENSP00000394669:R37T;ENSP00000388521:R155T	ENSP00000033079:R155T	R	-	2	0	FAM13B	137375440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.527000	0.60573	1.325000	0.45301	0.637000	0.83480	AGA		0.338	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1				24	25	0	0	0	0.010818	0	24	25		
PCDHA6	56142	broad.mit.edu	37	5	140209923	140209923	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140209923G>A	ENST00000529310.1	+	1	2361	c.2247G>A	c.(2245-2247)tcG>tcA	p.S749S	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	749					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGTCGTACTCGCAGC	0.657																																						uc003lho.2		NaN																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(2245-2247)TCG>TCA		protocadherin alpha 6 isoform 1 precursor							45.0	46.0	45.0					5																	140209923		2203	4300	6503	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209923G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2247G>A	5.37:g.140209923G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.S749S	p.S749S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2274	+			749			Cytoplasmic (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.2247G>A	CCDS47281.1																																																																																				0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3		NM_018909		3	52	0	0	0	0.001168	0	3	52		
PCDHA8	56140	broad.mit.edu	37	5	140221688	140221688	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140221688T>A	ENST00000531613.1	+	1	782	c.782T>A	c.(781-783)gTt>gAt	p.V261D	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V261D|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	261	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACAACAGTTATCAAACTG	0.408																																						uc003lhs.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(781-783)GTT>GAT		protocadherin alpha 8 isoform 1 precursor							67.0	66.0	66.0					5																	140221688		2203	4299	6502	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140221688T>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.782T>A	5.37:g.140221688T>A	ENSP00000434655:p.Val261Asp					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.V261D	p.V261D	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	782	+			261			Cadherin 3.|Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.782T>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.737401	0.69304	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.69175	-0.38;-0.38	3.73	3.73	0.42828	Cadherin (4);Cadherin-like (1);	0.247558	0.20203	U	0.097059	D	0.89019	0.6596	H	0.99590	4.645	0.21220	N	0.999757	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	T	0.82965	-0.0195	10	0.87932	D	0	.	12.778	0.57459	0.0:0.0:0.0:1.0	.	261;261	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	D	261	ENSP00000434655:V261D;ENSP00000367363:V261D	ENSP00000367363:V261D	V	+	2	0	PCDHA8	140201872	0.988000	0.35896	0.001000	0.08648	0.146000	0.21551	7.938000	0.87678	1.468000	0.48064	0.456000	0.33151	GTT		0.408	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2		NM_018911		27	38	0	0	0	0.008361	0	27	38		
PCDHA12	56137	broad.mit.edu	37	5	140255207	140255207	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140255207G>A	ENST00000398631.2	+	1	150	c.150G>A	c.(148-150)caG>caA	p.Q50Q	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	50	Cadherin 1. {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)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCGCTCAGGACCTGGGGC	0.642																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NaN																	0					0						c.(148-150)CAG>CAA		protocadherin alpha 12 isoform 1 precursor							39.0	47.0	44.0					5																	140255207		2201	4298	6499	SO:0001819	synonymous_variant	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140255207G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.150G>A	5.37:g.140255207G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.Q50Q	p.Q50Q	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	277	+			50			Cadherin 1.|Extracellular (Potential).		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.150G>A	CCDS47285.1																																																																																				0.642	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2		NM_018903		21	35	0	0	0	0.007291	0	21	35		
PCDHB16	57717	broad.mit.edu	37	5	140563833	140563833	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140563833A>G	ENST00000361016.2	+	1	2854	c.1699A>G	c.(1699-1701)Aac>Gac	p.N567D		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	567					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGCTGCAGAACGGCTCCGC	0.711																																						uc003liv.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1699-1701)AAC>GAC		protocadherin beta 16 precursor							14.0	17.0	16.0					5																	140563833		1962	3896	5858	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563833A>G	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1699A>G	5.37:g.140563833A>G	ENSP00000354293:p.Asn567Asp						p.N567D	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2854	+			567			Extracellular (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1699A>G	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	a	18.38	3.611718	0.66558	.	.	ENSG00000196963	ENST00000361016	T	0.60920	0.15	4.12	4.12	0.48240	Cadherin (1);Cadherin-like (1);	0.000000	0.37530	N	0.002055	T	0.58821	0.2149	N	0.20881	0.62	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.49351	-0.8949	10	0.87932	D	0	.	7.8076	0.29211	0.9031:0.0:0.0969:0.0	.	567	Q9NRJ7	PCDBG_HUMAN	D	567	ENSP00000354293:N567D	ENSP00000354293:N567D	N	+	1	0	PCDHB16	140544017	0.005000	0.15991	0.998000	0.56505	0.977000	0.68977	0.909000	0.28558	1.517000	0.48917	0.392000	0.25879	AAC		0.711	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1		NM_020957		20	86	0	0	0	0.004656	0	20	86		
PCDHB10	56126	broad.mit.edu	37	5	140573673	140573673	+	Silent	SNP	C	C	T	rs369832636		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140573673C>T	ENST00000239446.4	+	1	1732	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	516	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L516L(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGCCCTCAGGTCGCTGG	0.706																																						uc003lix.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1546-1548)CTC>CTT		protocadherin beta 10 precursor		C		2,4404	4.2+/-10.8	0,2,2201	102.0	119.0	113.0		1548	-4.9	0.0	5		113	0,8596		0,0,4298	no	coding-synonymous	PCDHB10	NM_018930.3		0,2,6499	TT,TC,CC		0.0,0.0454,0.0154		516/801	140573673	2,13000	2203	4298	6501	SO:0001819	synonymous_variant	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573673C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1548C>T	5.37:g.140573673C>T							p.L516L	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1722	+			516			Cadherin 5.|Extracellular (Potential).		Q96T99	Silent	SNP	ENST00000239446.4	37	c.1548C>T	CCDS4252.1																																																																																				0.706	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1		NM_018930		76	224	0	0	0	0.00361	0	76	224		
PCDHGA11	56105	broad.mit.edu	37	5	140800805	140800805	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140800805G>A	ENST00000398587.2	+	1	44	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R4Q	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	4					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGCGAATCGGCTACAGCGC	0.592																																						uc003lkq.1		NaN																	0					0						c.(10-12)CGG>CAG		protocadherin gamma subfamily A, 11 isoform 1							7.0	9.0	9.0					5																	140800805		1773	3897	5670	SO:0001583	missense	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140800805G>A	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.11G>A	5.37:g.140800805G>A	ENSP00000381589:p.Arg4Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.R4Q|PCDHGA11_uc003lkp.1_Missense_Mutation_p.R4Q	p.R4Q	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	269	+			4					B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.11G>A	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	18.17	3.564740	0.65651	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.52295	0.86;0.67	5.92	-7.6	0.01303	.	.	.	.	.	T	0.17959	0.0431	N	0.14661	0.345	0.09310	N	1	B;B;B	0.18968	0.019;0.032;0.032	B;B;B	0.12837	0.003;0.005;0.008	T	0.27191	-1.0081	9	0.09590	T	0.72	.	1.242	0.01965	0.1778:0.2744:0.2312:0.3166	.	4;4;4	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	Q	4	ENSP00000381589:R4Q;ENSP00000428333:R4Q	ENSP00000381589:R4Q	R	+	2	0	PCDHGA11	140780989	0.000000	0.05858	0.026000	0.17262	0.200000	0.23975	-1.402000	0.02499	-1.000000	0.03438	0.467000	0.42956	CGG		0.592	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1		NM_018914		5	15	0	0	0	0.004482	0	5	15		
ARAP3	64411	broad.mit.edu	37	5	141035204	141035204	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:141035204G>A	ENST00000239440.4	-	31	4159	c.4094C>T	c.(4093-4095)tCt>tTt	p.S1365F	ARAP3_ENST00000508305.1_Missense_Mutation_p.S1196F|ARAP3_ENST00000513878.1_Missense_Mutation_p.S1027F|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1365					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTGATTGGCAGAGAGGAGGGT	0.587																																						uc003llm.2		NaN																	0				breast(5)|ovary(1)|large_intestine(1)	7						c.(4093-4095)TCT>TTT		ArfGAP with RhoGAP domain, ankyrin repeat and PH							87.0	83.0	84.0					5																	141035204		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141035204G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.4094C>T	5.37:g.141035204G>A	ENSP00000239440:p.Ser1365Phe					ARAP3_uc003lll.2_Missense_Mutation_p.S316F|ARAP3_uc011dbe.1_Missense_Mutation_p.S1027F|ARAP3_uc003lln.2_Missense_Mutation_p.S1196F	p.S1365F	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			31	4172	-			1365					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.4094C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527382	0.85706	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.20463	2.07;2.8;2.69	5.53	5.53	0.82687	.	0.061204	0.64402	D	0.000002	T	0.37517	0.1006	L	0.32530	0.975	0.58432	D	0.999993	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.68943	0.896;0.961;0.942	T	0.09530	-1.0670	10	0.66056	D	0.02	.	19.0488	0.93034	0.0:0.0:1.0:0.0	.	1027;1196;1365	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	F	1196;1365;1027	ENSP00000421826:S1196F;ENSP00000239440:S1365F;ENSP00000421468:S1027F	ENSP00000239440:S1365F	S	-	2	0	ARAP3	141015388	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.172000	0.94808	2.606000	0.88127	0.563000	0.77884	TCT		0.587	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1		NM_022481		13	74	0	0	0	0.00499	0	13	74		
PCDH1	5097	broad.mit.edu	37	5	141243228	141243228	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:141243228T>C	ENST00000394536.3	-	3	2807	c.2668A>G	c.(2668-2670)Aag>Gag	p.K890E	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.K868E|PCDH1_ENST00000287008.3_Missense_Mutation_p.K890E|PCDH1_ENST00000456271.1_Missense_Mutation_p.K878E|PCDH1_ENST00000511044.1_5'UTR	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	890					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTCTCCTTCTTACCAGCCTGG	0.587																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llq.2		NaN																	0				ovary(5)	5						c.(2668-2670)AAG>GAG		protocadherin 1 isoform 1 precursor							149.0	151.0	150.0					5																	141243228		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141243228T>C	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2668A>G	5.37:g.141243228T>C	ENSP00000378043:p.Lys890Glu					PCDH1_uc003llp.2_Missense_Mutation_p.K890E|PCDH1_uc011dbf.1_Missense_Mutation_p.K868E	p.K890E	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	2785	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	890			Cytoplasmic (Potential).		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.2668A>G	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	t	17.17	3.322298	0.60634	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	4.75	4.75	0.60458	Protocadherin (1);	0.000000	0.53938	D	0.000048	T	0.68586	0.3017	M	0.81497	2.545	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73515	-0.3958	10	0.87932	D	0	.	12.2391	0.54532	0.0:0.0:0.0:1.0	.	890;890	Q08174;Q08174-2	PCDH1_HUMAN;.	E	890;890;878;901;868	ENSP00000287008:K890E;ENSP00000378043:K890E;ENSP00000403497:K878E;ENSP00000350122:K901E;ENSP00000438825:K868E	ENSP00000287008:K890E	K	-	1	0	PCDH1	141223412	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.832000	0.86757	1.990000	0.58119	0.375000	0.23000	AAG		0.587	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1		NM_032420		92	97	0	0	0	0.00361	0	92	97		
SLC6A7	6534	broad.mit.edu	37	5	149585112	149585112	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:149585112G>A	ENST00000230671.2	+	13	1998	c.1627G>A	c.(1627-1629)Ggc>Agc	p.G543S	SLC6A7_ENST00000524041.1_Missense_Mutation_p.G543S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	543					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CATCCTGATGGGCCTGCTGTC	0.612																																						uc003lrr.2		NaN																	0					0						c.(1627-1629)GGC>AGC		solute carrier family 6, member 7	L-Proline(DB00172)						113.0	86.0	95.0					5																	149585112		2203	4300	6503	SO:0001583	missense	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149585112G>A	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1627G>A	5.37:g.149585112G>A	ENSP00000230671:p.Gly543Ser						p.G543S	NM_014228	NP_055043	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	1998	+		all_hematologic(541;0.224)	543			Helical; Name=12; (Potential).		Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	c.1627G>A	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527379	0.85706	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.73575	-0.76;-0.76	5.65	5.65	0.86999	.	0.049333	0.85682	D	0.000000	T	0.62998	0.2474	N	0.12611	0.24	0.80722	D	1	B	0.25486	0.127	B	0.26094	0.066	T	0.61671	-0.7015	10	0.62326	D	0.03	.	19.7205	0.96142	0.0:0.0:1.0:0.0	.	543	Q99884	SC6A7_HUMAN	S	543	ENSP00000230671:G543S;ENSP00000428200:G543S	ENSP00000230671:G543S	G	+	1	0	SLC6A7	149565305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.131000	0.71670	2.671000	0.90904	0.462000	0.41574	GGC		0.612	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1		NM_014228		60	47	0	0	0	0.00361	0	60	47		
SYNPO	11346	broad.mit.edu	37	5	150029566	150029566	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:150029566A>C	ENST00000394243.1	+	3	2835	c.2461A>C	c.(2461-2463)Atc>Ctc	p.I821L	SYNPO_ENST00000519664.1_Missense_Mutation_p.I577L|SYNPO_ENST00000522122.1_Missense_Mutation_p.I821L|SYNPO_ENST00000307662.4_Missense_Mutation_p.I577L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	821	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCTCACCTATCAAGGAGCC	0.652																																						uc003lsn.2		NaN																	0				large_intestine(1)	1						c.(2461-2463)ATC>CTC		synaptopodin isoform B							73.0	86.0	81.0					5																	150029566		2203	4300	6503	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029566A>C	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2461A>C	5.37:g.150029566A>C	ENSP00000377789:p.Ile821Leu					SYNPO_uc003lso.3_Missense_Mutation_p.I577L|SYNPO_uc003lsp.2_Missense_Mutation_p.I577L	p.I821L	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2835	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	821			Pro-rich.		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.2461A>C	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	A	9.236	1.037034	0.19669	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.22134	1.97;1.97;1.97	5.06	0.12	0.14691	.	0.458938	0.18379	N	0.143016	T	0.11239	0.0274	L	0.36672	1.1	0.21841	N	0.999516	B;B	0.21225	0.002;0.053	B;B	0.15484	0.009;0.013	T	0.19516	-1.0303	10	0.27785	T	0.31	-15.7253	0.8646	0.01201	0.4298:0.1167:0.2521:0.2014	.	577;821	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	L	821;821;577;577	ENSP00000377789:I821L;ENSP00000428378:I821L;ENSP00000429268:I577L	ENSP00000302139:I577L	I	+	1	0	SYNPO	150009759	0.657000	0.27393	0.926000	0.36857	0.596000	0.36781	0.477000	0.22196	0.121000	0.18284	0.379000	0.24179	ATC		0.652	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1		NM_007286		46	52	0	0	0	0.00361	0	46	52		
IL12B	3593	broad.mit.edu	37	5	158750268	158750268	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:158750268G>T	ENST00000231228.2	-	3	613	c.158C>A	c.(157-159)cCt>cAt	p.P53H		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	53	Ig-like C2-type.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTTCTTCAGGGGTGTCACA	0.507																																						uc003lxr.1		NaN																	0					0						c.(157-159)CCT>CAT		interleukin 12B precursor							90.0	81.0	84.0					5																	158750268		2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158750268G>T	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.158C>A	5.37:g.158750268G>T	ENSP00000231228:p.Pro53His						p.P53H	NM_002187	NP_002178	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	200	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	53			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000231228.2	37	c.158C>A	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.355807	0.41700	.	.	ENSG00000113302	ENST00000231228	T	0.21932	1.98	6.17	2.32	0.28847	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.739984	0.14132	N	0.339286	T	0.19846	0.0477	M	0.63428	1.95	0.09310	N	1	P	0.47841	0.901	B	0.42771	0.397	T	0.13683	-1.0500	10	0.17369	T	0.5	-17.4449	6.1456	0.20283	0.1106:0.0:0.6083:0.2811	.	53	P29460	IL12B_HUMAN	H	53	ENSP00000231228:P53H	ENSP00000231228:P53H	P	-	2	0	IL12B	158682846	0.206000	0.23470	0.018000	0.16275	0.996000	0.88848	0.949000	0.29109	0.140000	0.18849	0.655000	0.94253	CCT		0.507	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2		NM_002187		14	17	1	0	3.57192e-18	0.006122	4.03888e-18	14	17		
ZNF354A	6940	broad.mit.edu	37	5	178139071	178139071	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:178139071T>A	ENST00000335815.2	-	5	2005	c.1808A>T	c.(1807-1809)gAg>gTg	p.E603V		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	603					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CTAGGGGTCCTCTTCGATATG	0.348																																						uc003mjj.2		NaN																	0				ovary(2)|skin(1)	3						c.(1807-1809)GAG>GTG		zinc finger protein 354A							61.0	65.0	64.0					5																	178139071		2202	4300	6502	SO:0001583	missense	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178139071T>A	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1808A>T	5.37:g.178139071T>A	ENSP00000337122:p.Glu603Val						p.E603V	NM_005649	NP_005640	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	5	2006	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	603					Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	c.1808A>T	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	T	5.029	0.191095	0.09547	.	.	ENSG00000169131	ENST00000335815	T	0.08008	3.14	4.47	3.31	0.37934	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14098	0.0341	M	0.85373	2.75	0.33964	D	0.64595	P	0.35124	0.485	B	0.34824	0.19	T	0.10086	-1.0645	9	0.87932	D	0	-1.125	8.009	0.30342	0.0:0.0982:0.0:0.9018	.	603	O60765	Z354A_HUMAN	V	603	ENSP00000337122:E603V	ENSP00000337122:E603V	E	-	2	0	ZNF354A	178071677	.	.	0.117000	0.21633	0.056000	0.15407	.	.	0.870000	0.35726	0.533000	0.62120	GAG		0.348	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1		NM_005649		22	15	0	0	0	0.00632	0	22	15		
MAPK9	5601	broad.mit.edu	37	5	179675979	179675979	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:179675979C>T	ENST00000452135.2	-	6	908	c.610G>A	c.(610-612)Gag>Aag	p.E204K	MAPK9_ENST00000343111.6_Missense_Mutation_p.E204K|MAPK9_ENST00000425491.2_Missense_Mutation_p.E204K|MAPK9_ENST00000347470.4_Missense_Mutation_p.E204K|MAPK9_ENST00000393360.3_Missense_Mutation_p.E204K|MAPK9_ENST00000539014.1_Missense_Mutation_p.E204K|MAPK9_ENST00000455781.1_Missense_Mutation_p.E204K|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000397072.3_3'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCACCGTTCTCTTTGTAGCCC	0.527																																						uc003mls.3		NaN																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4						c.(610-612)GAG>AAG		mitogen-activated protein kinase 9 isoform JNK2							251.0	273.0	265.0					5																	179675979		2203	4300	6503	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding	g.chr5:179675979C>T	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.610G>A	5.37:g.179675979C>T	ENSP00000394560:p.Glu204Lys					MAPK9_uc003mlt.3_Missense_Mutation_p.E204K|MAPK9_uc010jlc.2_Missense_Mutation_p.E204K|MAPK9_uc003mlv.3_Missense_Mutation_p.E204K|MAPK9_uc011dgx.1_Missense_Mutation_p.E204K	p.E204K	NM_002752	NP_002743	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	881	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	204			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.610G>A	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871624	0.91587	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	T;T;T;T;D;T;T	0.82526	-0.09;-0.09;-0.09;-0.09;-1.62;-0.09;-0.13	5.59	4.71	0.59529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.133600	0.52532	D	0.000076	T	0.71500	0.3347	N	0.02192	-0.645	0.80722	D	1	P;P;P;D;B	0.53462	0.763;0.643;0.763;0.96;0.016	B;B;P;P;B	0.48425	0.316;0.246;0.496;0.577;0.021	T	0.80329	-0.1428	10	0.62326	D	0.03	-17.0563	16.5236	0.84324	0.0:0.869:0.1309:0.0	.	204;204;204;204;204	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	K	204	ENSP00000394560:E204K;ENSP00000377028:E204K;ENSP00000389338:E204K;ENSP00000345524:E204K;ENSP00000321410:E204K;ENSP00000397422:E204K;ENSP00000443149:E204K	ENSP00000345524:E204K	E	-	1	0	MAPK9	179608585	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	7.711000	0.84669	1.352000	0.45808	-0.181000	0.13052	GAG		0.527	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3				248	343	0	0	0	0.00361	0	248	343		
TBC1D7	51256	broad.mit.edu	37	6	13327121	13327121	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:13327121C>G	ENST00000379300.3	-	2	253	c.10G>C	c.(10-12)Gac>Cac	p.D4H	TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000356436.4_Missense_Mutation_p.D4H|TBC1D7_ENST00000343141.4_Missense_Mutation_p.D4H|TBC1D7_ENST00000607658.1_Missense_Mutation_p.D4H|TBC1D7_ENST00000379307.2_Missense_Mutation_p.D4H	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	4					activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CTCTGAGAGTCCTCAGTCATA	0.383																																						uc003naj.2		NaN																	0				ovary(1)	1						c.(10-12)GAC>CAC		TBC1 domain family, member 7 isoform a							60.0	62.0	61.0					6																	13327121		2203	4300	6503	SO:0001583	missense	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13327121C>G	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.10G>C	6.37:g.13327121C>G	ENSP00000368602:p.Asp4His					TBC1D7_uc011dis.1_RNA|TBC1D7_uc003nan.2_Missense_Mutation_p.D4H|TBC1D7_uc003nal.2_Missense_Mutation_p.D4H|TBC1D7_uc003nam.2_Missense_Mutation_p.D4H|TBC1D7_uc003nao.2_Missense_Mutation_p.D4H|TBC1D7_uc010jpd.2_Missense_Mutation_p.D4H|TBC1D7_uc003nap.2_Missense_Mutation_p.D4H|TBC1D7_uc003naq.2_Missense_Mutation_p.D4H	p.D4H	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		2	101	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	4					E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	c.10G>C	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775138	0.90108	.	.	ENSG00000145979	ENST00000421203;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456;ENST00000428109;ENST00000416436;ENST00000379291	T;T;T;T;T;T;T;T;T;T;T;T;T	0.52295	2.24;2.24;2.24;1.3;1.26;1.32;1.32;2.24;1.34;1.31;2.24;2.24;0.67	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.65616	0.2708	M	0.73962	2.25	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;D	0.97110	1.0;0.999;0.998;0.996;0.99	T	0.67898	-0.5551	10	0.72032	D	0.01	-22.6743	18.757	0.91836	0.0:1.0:0.0:0.0	.	4;4;4;4;4	Q2TU37;Q5JPB9;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;.;TBCD7_HUMAN	H	4	ENSP00000401438:D4H;ENSP00000348813:D4H;ENSP00000368602:D4H;ENSP00000368609:D4H;ENSP00000343100:D4H;ENSP00000414292:D4H;ENSP00000404680:D4H;ENSP00000394425:D4H;ENSP00000417005:D4H;ENSP00000412102:D4H;ENSP00000414101:D4H;ENSP00000401339:D4H;ENSP00000368593:D4H	ENSP00000343100:D4H	D	-	1	0	TBC1D7	13435100	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.301000	0.78850	2.730000	0.93505	0.650000	0.86243	GAC		0.383	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2		NM_016495		4	22	0	0	0	0.001168	0	4	22		
DEK	7913	broad.mit.edu	37	6	18222170	18222170	+	IGR	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:18222170A>G	ENST00000397239.3	-	0	3427				KDM1B_ENST00000388870.2_Missense_Mutation_p.T807A|KDM1B_ENST00000397244.1_Missense_Mutation_p.T575A|KDM1B_ENST00000297792.5_Missense_Mutation_p.T574A|KDM1B_ENST00000546309.2_Missense_Mutation_p.T97A	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene						chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			ACAAACTGTTACAGGGGCATA	0.398			T	NUP214	AML																																	uc003nco.1		NaN		Dom	yes		6	6p23	7913		DEK oncogene (DNA binding)			L					0				skin(1)	1						c.(1807-1809)ACA>GCA		amine oxidase (flavin containing) domain 1							171.0	161.0	165.0					6																	18222170		2203	4300	6503	SO:0001628	intergenic_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18222170A>G	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319		6.37:g.18222170A>G						KDM1B_uc003ncn.1_Missense_Mutation_p.T574A|KDM1B_uc003ncp.1_Missense_Mutation_p.T159A|KDM1B_uc003ncq.1_Missense_Mutation_p.Y157C	p.T603A	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			15	1882	+			806					B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	c.1807A>G	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.496409	0.44352	.	.	ENSG00000165097	ENST00000546309;ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	T;D;D;D	0.91996	2.98;-2.95;-2.95;-2.95	5.94	5.94	0.96194	Amine oxidase (1);	0.050199	0.85682	D	0.000000	D	0.83018	0.5163	N	0.20483	0.58	0.52099	D	0.999943	P;P	0.41710	0.482;0.76	B;P	0.45538	0.208;0.484	D	0.84372	0.0544	10	0.35671	T	0.21	-18.1377	11.4841	0.50344	0.866:0.0:0.0:0.134	.	806;574	Q8NB78;A2A2C6	KDM1B_HUMAN;.	A	97;807;575;574;804	ENSP00000442670:T97A;ENSP00000373522:T807A;ENSP00000380419:T575A;ENSP00000297792:T574A	ENSP00000297792:T574A	T	+	1	0	KDM1B	18330149	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.868000	0.75516	2.275000	0.75901	0.528000	0.53228	ACA		0.398	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4				7	136	0	0	0	0.010729	0	7	136		
RNF39	80352	broad.mit.edu	37	6	30043128	30043128	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:30043128C>T	ENST00000244360.6	-	1	536	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	RNF39_ENST00000376751.3_Missense_Mutation_p.V147M	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	147						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										GCCAGCCGCACATTAGACCTC	0.751																																					NSCLC(8;188 360 1520 20207 31481)	uc003npe.2		NaN																	0					0						c.(439-441)GTG>ATG		ring finger protein 39 isoform 1							5.0	6.0	5.0					6																	30043128		1774	3765	5539	SO:0001583	missense	80352					cytoplasm	zinc ion binding	g.chr6:30043128C>T	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.439G>A	6.37:g.30043128C>T	ENSP00000244360:p.Val147Met					RNF39_uc003npd.2_Missense_Mutation_p.V147M	p.V147M	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN			1	501	-			147					A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	c.439G>A	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	14.96	2.689916	0.48097	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.18016	2.24;2.24	3.5	3.5	0.40072	Zinc finger, RING/FYVE/PHD-type (1);	0.320753	0.16894	U	0.195198	T	0.10035	0.0246	N	0.14661	0.345	0.24428	N	0.994587	D;D	0.64830	0.989;0.994	P;P	0.59889	0.737;0.865	T	0.18903	-1.0322	10	0.34782	T	0.22	-18.1114	12.9403	0.58340	0.0:1.0:0.0:0.0	.	147;147	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	M	147	ENSP00000365942:V147M;ENSP00000244360:V147M	ENSP00000244360:V147M	V	-	1	0	RNF39	30151107	0.000000	0.05858	0.999000	0.59377	0.741000	0.42261	-0.046000	0.11983	1.680000	0.50976	0.436000	0.28706	GTG		0.751	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3		NM_170769		8	0	0	0	0	0.008291	0	8	0		
MUC21	394263	broad.mit.edu	37	6	30954960	30954960	+	Silent	SNP	C	C	T	rs41288683		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:30954960C>T	ENST00000376296.3	+	2	1249	c.1008C>T	c.(1006-1008)agC>agT	p.S336S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	336	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTGAGTCCAGCACGACCTCCA	0.627																																						uc003nsh.2		NaN																	0				ovary(1)|skin(1)	2						c.(1006-1008)AGC>AGT		mucin 21 precursor							135.0	137.0	136.0					6																	30954960		2202	4296	6498	SO:0001819	synonymous_variant	394263					integral to membrane|plasma membrane		g.chr6:30954960C>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1008C>T	6.37:g.30954960C>T						MUC21_uc003nsi.1_RNA	p.S336S	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			2	1259	+			336			Ser-rich.|28 X 15 AA approximate tandem repeats.|21.|Extracellular (Potential).		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	c.1008C>T	CCDS34388.1																																																																																				0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3		NM_001010909		9	376	0	0	0	0.009535	0	9	376		
MICB	4277	broad.mit.edu	37	6	31473433	31473433	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:31473433A>G	ENST00000252229.6	+	2	189	c.110A>G	c.(109-111)cAg>cGg	p.Q37R	MICB_ENST00000399150.3_Missense_Mutation_p.Q37R|MICB_ENST00000538442.1_Missense_Mutation_p.Q5R	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GTGCTGTCCCAGGATGGATCT	0.522																																						uc003ntn.3		NaN																	0					0						c.(109-111)CAG>CGG		MHC class I polypeptide-related sequence B							97.0	98.0	98.0					6																	31473433		1265	2566	3831	SO:0001583	missense	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31473433A>G		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.110A>G	6.37:g.31473433A>G	ENSP00000252229:p.Gln37Arg					MICB_uc011dnm.1_Missense_Mutation_p.Q5R|MICB_uc003nto.3_Missense_Mutation_p.Q37R	p.Q37R	NM_005931	NP_005922	Q29980	MICB_HUMAN			2	226	+			37			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000252229.6	37	c.110A>G	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	N	0.010	-1.763536	0.00651	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.00642	6.02;6.02;6.02	2.68	-3.85	0.04243	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.680900	0.03908	N	0.281439	T	0.00073	0.0002	N	0.00608	-1.33	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.002;0.004;0.001	T	0.41662	-0.9496	10	0.02654	T	1	.	4.8548	0.13554	0.5194:0.1607:0.3199:0.0	.	5;37;37	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	R	5;37;37	ENSP00000442345:Q5R;ENSP00000382103:Q37R;ENSP00000252229:Q37R	ENSP00000252229:Q37R	Q	+	2	0	MICB	31581412	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.706000	0.00388	-0.982000	0.03515	-1.966000	0.00469	CAG		0.522	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3		NM_005931		3	124	0	0	0	0.009096	0	3	124		
COL11A2	1302	broad.mit.edu	37	6	33141522	33141522	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:33141522C>T	ENST00000374708.4	-	33	2584	c.2326G>A	c.(2326-2328)Gga>Aga	p.G776R	COL11A2_ENST00000341947.2_Splice_Site_p.G862R|COL11A2_ENST00000357486.1_Splice_Site_p.G841R|COL11A2_ENST00000374714.1_Splice_Site_p.G836R|COL11A2_ENST00000361917.1_Splice_Site_p.G755R|COL11A2_ENST00000374713.1_Splice_Site_p.G815R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Splice_Site_p.G802R|COL11A2_ENST00000374712.1_Splice_Site_p.G781R	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	862	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAGATGTTCCCTGTGGGGGG	0.642																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NaN																	0				ovary(3)|skin(2)	5						c.(2584-2586)GGA>AGA		collagen, type XI, alpha 2 isoform 1							30.0	36.0	34.0					6																	33141522		1511	2708	4219	SO:0001630	splice_region_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33141522C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2326-1G>A	6.37:g.33141522C>T						COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G776R|COL11A2_uc003ocz.1_Missense_Mutation_p.G755R	p.G862R	NM_080680	NP_542411	P13942	COBA2_HUMAN			35	2812	-			862			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.2584G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584812	0.65992	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.99834	0.9925	H	0.99197	4.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.96566	0.9419	10	0.87932	D	0	.	14.0408	0.64674	0.0:1.0:0.0:0.0	.	755;776;862	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	R	776;862;841;836;815;802;781;755	ENSP00000363840:G776R;ENSP00000339915:G862R;ENSP00000350079:G841R;ENSP00000363846:G836R;ENSP00000363845:G815R;ENSP00000378623:G802R;ENSP00000363844:G781R;ENSP00000355123:G755R	ENSP00000339915:G862R	G	-	1	0	COL11A2	33249500	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	7.373000	0.79623	2.155000	0.67459	0.542000	0.68232	GGA		0.642	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			Missense_Mutation	18	0	0	0	0	0.002299	0	18	0		
GRM4	2914	broad.mit.edu	37	6	34003490	34003490	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:34003490C>A	ENST00000538487.2	-	9	2840	c.2397G>T	c.(2395-2397)ctG>ctT	p.L799L	GRM4_ENST00000609222.1_Silent_p.L666L|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Silent_p.L659L|GRM4_ENST00000544773.2_Silent_p.L630L|GRM4_ENST00000374181.4_Silent_p.L799L|GRM4_ENST00000535756.1_Silent_p.L666L|GRM4_ENST00000374177.3_Silent_p.L683L	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	799					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGATGAAGGCCAGCCAGACGA	0.622																																						uc003oir.3		NaN																	0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(2395-2397)CTG>CTT		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						88.0	66.0	73.0					6																	34003490		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003490C>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2397G>T	6.37:g.34003490C>A						GRM4_uc011dsn.1_Silent_p.L752L|GRM4_uc010jvh.2_Silent_p.L799L|GRM4_uc010jvi.2_Silent_p.L491L|GRM4_uc003oio.2_Silent_p.L491L|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.L659L|GRM4_uc003oiq.2_Silent_p.L666L|GRM4_uc011dsm.1_Silent_p.L630L	p.L799L	NM_000841	NP_000832	Q14833	GRM4_HUMAN			8	2567	-			799			Helical; Name=6; (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.2397G>T	CCDS4787.1																																																																																				0.622	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2				46	2	1	0	4.13886e-29	0.00361	4.81061e-29	46	2		
FKBP5	2289	broad.mit.edu	37	6	35586902	35586902	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:35586902G>C	ENST00000539068.1	-	5	681	c.479C>G	c.(478-480)tCa>tGa	p.S160*	FKBP5_ENST00000357266.4_Nonsense_Mutation_p.S160*|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000536438.1_Nonsense_Mutation_p.S160*|FKBP5_ENST00000542713.1_Nonsense_Mutation_p.S160*	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	160	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GTTTGGATTTGAATATCCCTC	0.383																																						uc011dte.1		NaN																	0				ovary(1)	1						c.(478-480)TCA>TGA		FK506 binding protein 5 isoform 1							182.0	164.0	170.0					6																	35586902		2203	4300	6503	SO:0001587	stop_gained	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35586902G>C	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.479C>G	6.37:g.35586902G>C	ENSP00000441205:p.Ser160*					FKBP5_uc003okx.2_Nonsense_Mutation_p.S160*|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Nonsense_Mutation_p.S160*|FKBP5_uc003okz.2_Nonsense_Mutation_p.S160*	p.S160*	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN			5	682	-			160			PPIase FKBP-type 2.		F5H7R1|Q59EB8|Q5TGM6	Nonsense_Mutation	SNP	ENST00000539068.1	37	c.479C>G	CCDS4808.1	.	.	.	.	.	.	.	.	.	.	G	41	8.757059	0.98941	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000543400;ENST00000542713;ENST00000373875	.	.	.	5.46	4.6	0.57074	.	0.343107	0.27710	N	0.018174	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-4.1029	14.144	0.65339	0.0723:0.0:0.9277:0.0	.	.	.	.	X	160;160;160;160;123;160;158	.	ENSP00000338160:S160X	S	-	2	0	FKBP5	35694880	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	6.228000	0.72288	1.314000	0.45095	0.563000	0.77884	TCA		0.383	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2				47	4	0	0	0	0.00361	0	47	4		
MTCH1	23787	broad.mit.edu	37	6	36937845	36937845	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:36937845C>G	ENST00000373627.5	-	11	1192	c.1068G>C	c.(1066-1068)tgG>tgC	p.W356C	MTCH1_ENST00000538808.1_Missense_Mutation_p.W183C|MTCH1_ENST00000373616.5_Missense_Mutation_p.W339C|MTCH1_ENST00000471737.1_5'UTR	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	356					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGCAGTGAATCCAGGATTTGA	0.552																																						uc003ond.1		NaN																	0					0						c.(1066-1068)TGG>TGC		mitochondrial carrier homolog 1							48.0	44.0	46.0					6																	36937845		2203	4300	6503	SO:0001583	missense	23787				activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr6:36937845C>G	AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"""Solute carriers"""	17586	protein-coding gene	gene with protein product	"""solute carrier family 25, member 49"""	610449	"""mitochondrial carrier homolog 1 (C. elegans)"""			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.1068G>C	6.37:g.36937845C>G	ENSP00000362730:p.Trp356Cys					MTCH1_uc003onc.1_Missense_Mutation_p.W339C|MTCH1_uc010jwo.1_RNA|MTCH1_uc003one.3_Missense_Mutation_p.W356C|MTCH1_uc011dtt.1_Missense_Mutation_p.W171C	p.W356C	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN			11	1068	-			356					A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Missense_Mutation	SNP	ENST00000373627.5	37	c.1068G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.7|20.7|20.7	4.028093|4.028093|4.028093	0.75390|0.75390|0.75390	.|.|.	.|.|.	ENSG00000137409|ENSG00000137409|ENSG00000137409	ENST00000373550|ENST00000418541|ENST00000373616;ENST00000373627;ENST00000337855;ENST00000460219;ENST00000538808	.|.|T;T;T;T	.|.|0.43294	.|.|0.95;0.95;0.95;0.95	5.52|5.52|5.52	5.52|5.52|5.52	0.82312|0.82312|0.82312	.|.|Mitochondrial carrier domain (2);	.|.|0.000000	.|.|0.64402	.|.|D	.|.|0.000003	T|T|T	0.62539|0.62539|0.62539	0.2436|0.2436|0.2436	M|M|M	0.81112|0.81112|0.81112	2.525|2.525|2.525	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;P;D	.|.|0.89917	.|.|1.0;1.0;0.787;1.0	.|.|D;D;P;D	.|.|0.87578	.|.|0.998;0.997;0.584;0.997	T|T|T	0.67241|0.67241|0.67241	-0.5720|-0.5720|-0.5720	6|5|10	0.54805|.|0.87932	T|.|D	0.06|.|0	-9.0113|-9.0113|-9.0113	17.631|17.631|17.631	0.88108|0.88108|0.88108	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|183;338;356;339	.|.|B4E0C5;Q8IW90;Q9NZJ7;Q9NZJ7-2	.|.|.;.;MTCH1_HUMAN;.	H|A|C	277|170|339;356;275;323;183	.|.|ENSP00000362718:W339C;ENSP00000362730:W356C;ENSP00000419739:W323C;ENSP00000437660:W183C	ENSP00000362651:D277H|.|ENSP00000338712:W275C	D|G|W	-|-|-	1|2|3	0|0|0	MTCH1|MTCH1|MTCH1	37045823|37045823|37045823	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.977000|0.977000|0.977000	0.68977|0.68977|0.68977	5.848000|5.848000|5.848000	0.69458|0.69458|0.69458	2.597000|2.597000|2.597000	0.87782|0.87782|0.87782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|GGA|TGG		0.552	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1		NM_014341		54	3	0	0	0	0.00361	0	54	3		
TSPO2	222642	broad.mit.edu	37	6	41010863	41010863	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:41010863T>C	ENST00000373161.1	+	2	384	c.139T>C	c.(139-141)Ttg>Ctg	p.L47L	TSPO2_ENST00000470917.1_Silent_p.L47L|TSPO2_ENST00000373158.2_Silent_p.L47L	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	47					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAAAGTCTTATTGCTTGTACA	0.537																																						uc003opj.2		NaN																	0					0						c.(139-141)TTG>CTG		benzodiazapine receptor (peripheral)-like 1							180.0	161.0	167.0					6																	41010863		2203	4300	6503	SO:0001819	synonymous_variant	222642				transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity	g.chr6:41010863T>C		CCDS34444.1	6p21.1	2009-09-18	2009-09-04	2009-09-04	ENSG00000112212	ENSG00000112212			21256	protein-coding gene	gene with protein product	"""similar to RIKEN cDNA 2510027D20"""		"""benzodiazapine receptor (peripheral)-like 1"""	BZRPL1		19729679	Standard	NM_001010873		Approved	dJ34B21.2	uc003opj.3	Q5TGU0	OTTHUMG00000014666	ENST00000373161.1:c.139T>C	6.37:g.41010863T>C						UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Silent_p.Y56Y|TSPO2_uc011dub.1_Silent_p.L47L	p.L47L	NM_001010873	NP_001010873	Q5TGU0	TSPO2_HUMAN			2	440	+			47			Helical; (Potential).		B2RPR2|B7ZMN8|Q3SX82	Silent	SNP	ENST00000373161.1	37	c.139T>C	CCDS34444.1																																																																																				0.537	TSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040493.1		NM_001010873.2		43	89	0	0	0	0.00361	0	43	89		
GUCA1B	2979	broad.mit.edu	37	6	42156424	42156424	+	Missense_Mutation	SNP	C	C	T	rs137853903	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:42156424C>T	ENST00000230361.3	-	2	348	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	85	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				body fluid secretion (GO:0007589)|cell-cell signaling (GO:0007267)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CCCCTCAGCACGAGATTCAGA	0.547													C|||	28	0.00559105	0.0212	0.0	5008	,	,		19431	0.0		0.0	False		,,,				2504	0.0					uc003orz.2		NaN																	0				skin(2)	2	GRCh37	CM045052	GUCA1B	M	rs147956742	c.(253-255)GTG>ATG		guanylate cyclase activator 1B (retina)		C	MET/VAL	64,4342	59.9+/-96.7	2,60,2141	123.0	81.0	95.0		253	4.9	1.0	6	dbSNP_134	95	0,8600	1.2+/-3.3	0,0,4300	yes	missense	GUCA1B	NM_002098.5	21	2,60,6441	TT,TC,CC		0.0,1.4526,0.4921	benign	85/201	42156424	64,12942	2203	4300	6503	SO:0001583	missense	2979				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr6:42156424C>T	AF173227	CCDS4865.1	6p21.1	2013-02-14			ENSG00000112599	ENSG00000112599		"""EF-hand domain containing"""	4679	protein-coding gene	gene with protein product		602275				9119368	Standard	NM_002098		Approved	GCAP2, RP48	uc003orz.3	Q9UMX6	OTTHUMG00000014697	ENST00000230361.3:c.253G>A	6.37:g.42156424C>T	ENSP00000230361:p.Val85Met						p.V85M	NM_002098	NP_002089	Q9UMX6	GUC1B_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)		2	389	-	Colorectal(47;0.196)		85			EF-hand 2.		Q9NU15	Missense_Mutation	SNP	ENST00000230361.3	37	c.253G>A	CCDS4865.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.05	3.752927	0.69648	0.014526	0.0	ENSG00000112599	ENST00000230361;ENST00000372949	T	0.35789	1.29	4.87	4.87	0.63330	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	L	0.46741	1.465	0.80722	D	1	B	0.29936	0.262	B	0.29440	0.102	T	0.10497	-1.0627	10	0.66056	D	0.02	.	16.3185	0.82936	0.0:1.0:0.0:0.0	.	85	Q9UMX6	GUC1B_HUMAN	M	85	ENSP00000230361:V85M	ENSP00000230361:V85M	V	-	1	0	GUCA1B	42264402	0.999000	0.42202	0.991000	0.47740	0.994000	0.84299	3.987000	0.56944	2.616000	0.88540	0.655000	0.94253	GTG		0.547	GUCA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040550.1		NM_002098		9	22	0	0	0	0.008291	0	9	22		
CENPQ	55166	broad.mit.edu	37	6	49448703	49448703	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:49448703A>T	ENST00000335783.3	+	6	481	c.387A>T	c.(385-387)aaA>aaT	p.K129N		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	129					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					TCCCTCCCAAAAAGATGGAAG	0.303																																						uc003ozh.1		NaN																	0				ovary(2)	2						c.(385-387)AAA>AAT		centromere protein Q							100.0	103.0	102.0					6																	49448703		2203	4300	6503	SO:0001583	missense	55166				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr6:49448703A>T	AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"""chromosome 6 open reading frame 139"""	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.387A>T	6.37:g.49448703A>T	ENSP00000337289:p.Lys129Asn						p.K129N	NM_018132	NP_060602	Q7L2Z9	CENPQ_HUMAN			6	476	+	Lung NSC(77;0.0128)		129					A8KAF1|Q6IN61|Q9NVS5	Missense_Mutation	SNP	ENST00000335783.3	37	c.387A>T	CCDS4925.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675188	0.29783	.	.	ENSG00000031691	ENST00000335783;ENST00000371200	T	0.43688	0.94	5.83	5.83	0.93111	.	1.273770	0.05388	N	0.538540	T	0.31420	0.0796	L	0.57536	1.79	0.23376	N	0.997806	P	0.38677	0.642	B	0.40009	0.316	T	0.35176	-0.9799	10	0.44086	T	0.13	-0.9223	12.925	0.58254	1.0:0.0:0.0:0.0	.	129	Q7L2Z9	CENPQ_HUMAN	N	129	ENSP00000337289:K129N	ENSP00000337289:K129N	K	+	3	2	CENPQ	49556662	0.472000	0.25870	0.508000	0.27688	0.109000	0.19521	2.131000	0.42074	2.364000	0.80123	0.524000	0.50904	AAA		0.303	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040855.2		NM_018132		13	26	0	0	0	0.008871	0	13	26		
MCM3	4172	broad.mit.edu	37	6	52141909	52141909	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:52141909G>A	ENST00000229854.7	-	8	1197	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	MCM3_ENST00000596288.1_Missense_Mutation_p.S419F|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.S328F			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	374	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					ACCCACTCCAGAGGAGCCCCG	0.602																																						uc003pan.1		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(1120-1122)TCT>TTT		minichromosome maintenance complex component 3							61.0	61.0	61.0					6																	52141909		2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52141909G>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1121C>T	6.37:g.52141909G>A	ENSP00000229854:p.Ser374Phe					MCM3_uc011dwu.1_Missense_Mutation_p.S328F	p.S374F	NM_002388	NP_002379	P25205	MCM3_HUMAN			8	1231	-	Lung NSC(77;0.0931)		374			MCM.		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.1121C>T		.	.	.	.	.	.	.	.	.	.	G	25.4	4.632358	0.87660	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.09630	2.96;2.96	5.36	4.5	0.54988	ATPase, AAA+ type, core (1);	0.062960	0.85682	D	0.000000	T	0.44350	0.1289	H	0.99347	4.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.69639	-0.5091	10	0.87932	D	0	-14.4918	14.1428	0.65331	0.0715:0.0:0.9285:0.0	.	328;374	B4DUQ9;P25205	.;MCM3_HUMAN	F	374;328	ENSP00000229854:S374F;ENSP00000388647:S328F	ENSP00000229854:S374F	S	-	2	0	MCM3	52249868	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	9.657000	0.98554	1.499000	0.48617	0.655000	0.94253	TCT		0.602	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1				16	30	0	0	0	0.008871	0	16	30		
B3GAT2	135152	broad.mit.edu	37	6	71665987	71665987	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:71665987C>T	ENST00000230053.6	-	1	754	c.146G>A	c.(145-147)gGc>gAc	p.G49D		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	49					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GAGTCGGGCGCCCCCGCGGCC	0.711																																						uc003pfv.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(145-147)GGC>GAC		beta-1,3-glucuronyltransferase 2							11.0	14.0	13.0					6																	71665987		2127	4099	6226	SO:0001583	missense	135152				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr6:71665987C>T	AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.146G>A	6.37:g.71665987C>T	ENSP00000230053:p.Gly49Asp					B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.G49D	p.G49D	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN			1	802	-			49			Lumenal (Potential).		Q5JS09|Q8TF38|Q96NK4	Missense_Mutation	SNP	ENST00000230053.6	37	c.146G>A	CCDS4974.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244643	0.22796	.	.	ENSG00000112309	ENST00000230053	T	0.63255	-0.03	3.89	2.99	0.34606	.	0.598065	0.16683	N	0.203875	T	0.27063	0.0663	L	0.40543	1.245	0.34611	D	0.717534	B;B	0.26400	0.079;0.148	B;B	0.22152	0.014;0.038	T	0.03630	-1.1018	10	0.17369	T	0.5	-3.9643	6.7443	0.23453	0.2032:0.5994:0.1974:0.0	.	49;49	Q29RV3;Q9NPZ5	.;B3GA2_HUMAN	D	49	ENSP00000230053:G49D	ENSP00000230053:G49D	G	-	2	0	B3GAT2	71722708	.	.	0.724000	0.30704	0.234000	0.25298	.	.	0.917000	0.36895	0.555000	0.69702	GGC		0.711	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2		NM_080742		5	2	0	0	0	0.001168	0	5	2		
OGFRL1	79627	broad.mit.edu	37	6	72011571	72011571	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:72011571G>A	ENST00000370435.4	+	7	1309	c.1175G>A	c.(1174-1176)aGa>aAa	p.R392K	RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	392						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						GCCAAGCCAAGAAATACAGAG	0.448																																						uc003pfx.1		NaN																	0					0						c.(1174-1176)AGA>AAA		opioid growth factor receptor-like 1							62.0	69.0	67.0					6																	72011571		2203	4300	6503	SO:0001583	missense	79627					membrane	receptor activity	g.chr6:72011571G>A		CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.1175G>A	6.37:g.72011571G>A	ENSP00000359464:p.Arg392Lys						p.R392K	NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN			7	1338	+			392					Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	ENST00000370435.4	37	c.1175G>A	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	G	5.759	0.324468	0.10900	.	.	ENSG00000119900	ENST00000370435	T	0.41400	1.0	5.75	2.92	0.33932	.	0.542064	0.18675	N	0.134336	T	0.06735	0.0172	N	0.22421	0.69	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.34477	-0.9827	10	0.06625	T	0.88	-3.4256	2.8314	0.05501	0.1347:0.1574:0.5456:0.1623	.	392	Q5TC84	OGRL1_HUMAN	K	392	ENSP00000359464:R392K	ENSP00000359464:R392K	R	+	2	0	OGFRL1	72068292	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	0.098000	0.15189	1.390000	0.46547	0.563000	0.77884	AGA		0.448	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2		NM_024576		9	14	0	0	0	0.010729	0	9	14		
DOPEY1	23033	broad.mit.edu	37	6	83835289	83835289	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:83835289G>A	ENST00000349129.2	+	15	1816	c.1556G>A	c.(1555-1557)aGc>aAc	p.S519N	DOPEY1_ENST00000237163.5_Missense_Mutation_p.S500N|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S510N	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	519					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCCTTGACAAGCCATCTCCAG	0.418																																						uc003pjs.1		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1555-1557)AGC>AAC		dopey family member 1							106.0	98.0	101.0					6																	83835289		2203	4299	6502	SO:0001583	missense	23033				protein transport			g.chr6:83835289G>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1556G>A	6.37:g.83835289G>A	ENSP00000195654:p.Ser519Asn					DOPEY1_uc011dyy.1_Missense_Mutation_p.S510N|DOPEY1_uc010kbl.1_Missense_Mutation_p.S510N	p.S519N	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	15	1816	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	519					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.1556G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235931	0.39498	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.23754	1.89;1.91	5.53	5.53	0.82687	.	0.150474	0.64402	D	0.000011	T	0.14743	0.0356	L	0.56769	1.78	0.80722	D	1	P;P;P	0.42735	0.788;0.514;0.514	B;B;B	0.36464	0.225;0.14;0.151	T	0.04268	-1.0964	10	0.18710	T	0.47	.	17.6383	0.88129	0.0:0.0:1.0:0.0	.	406;510;519	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	N	519;500;500	ENSP00000195654:S519N;ENSP00000237163:S500N	ENSP00000237163:S500N	S	+	2	0	DOPEY1	83892008	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.251000	0.72441	2.608000	0.88229	0.455000	0.32223	AGC		0.418	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2		NM_015018		43	82	0	0	0	0.00361	0	43	82		
SPACA1	81833	broad.mit.edu	37	6	88775899	88775899	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:88775899G>T	ENST00000237201.1	+	7	848		c.e7-1		SPACA1_ENST00000462690.1_Splice_Site	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1						acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TTTTCTTCCAGGGCAGCAGTC	0.368																																						uc003pmn.2		NaN																	0					0						c.e7-1		sperm acrosome associated 1 precursor							69.0	76.0	74.0					6																	88775899		2203	4300	6503	SO:0001630	splice_region_variant	81833					integral to membrane		g.chr6:88775899G>T	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.732-1G>T	6.37:g.88775899G>T							p.W244_splice	NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	7	849	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)							Splice_Site	SNP	ENST00000237201.1	37	c.732_splice	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	8.624	0.892158	0.17613	.	.	ENSG00000118434	ENST00000237201	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.254	0.60068	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPACA1	88832618	1.000000	0.71417	0.983000	0.44433	0.091000	0.18340	4.499000	0.60380	2.507000	0.84556	0.467000	0.42956	.		0.368	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			Intron	10	31	1	0	5.16669e-11	0.010729	5.57701e-11	10	31		
CNR1	1268	broad.mit.edu	37	6	88854586	88854586	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:88854586C>A	ENST00000537554.1	-	2	3970	c.408G>T	c.(406-408)ctG>ctT	p.L136L	CNR1_ENST00000468898.1_Silent_p.L103L|CNR1_ENST00000549716.1_Silent_p.L75L|CNR1_ENST00000428600.2_Silent_p.L136L|CNR1_ENST00000549890.1_Silent_p.L136L|CNR1_ENST00000369499.2_Silent_p.L136L|CNR1_ENST00000535130.1_Silent_p.L136L|CNR1_ENST00000369501.2_Silent_p.L136L|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	136					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CGCACAGCACCAGGAGGTTCT	0.617																																						uc011dzq.1		NaN																	0				skin(2)	2						c.(406-408)CTG>CTT		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						54.0	47.0	49.0					6																	88854586		2203	4300	6503	SO:0001819	synonymous_variant	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854586C>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.408G>T	6.37:g.88854586C>A						CNR1_uc010kbz.2_Silent_p.L136L|CNR1_uc011dzr.1_Silent_p.L136L|CNR1_uc011dzs.1_Silent_p.L136L|CNR1_uc003pmq.3_Silent_p.L136L|CNR1_uc011dzt.1_Silent_p.L136L|CNR1_uc010kca.2_Silent_p.L103L	p.L136L	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	3971	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	136			Helical; Name=1; (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	c.408G>T	CCDS5015.1																																																																																				0.617	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2				12	7	1	0	5.3912e-06	0.006122	5.55811e-06	12	7		
UFL1	23376	broad.mit.edu	37	6	97000455	97000455	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:97000455C>A	ENST00000369278.4	+	18	2149	c.2083C>A	c.(2083-2085)Cag>Aag	p.Q695K		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	695					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										CCTGTTGTTTCAGTTTTCAAC	0.423																																						uc003por.2		NaN																	0				ovary(1)	1						c.(2083-2085)CAG>AAG		hypothetical protein LOC23376							162.0	124.0	137.0					6																	97000455		2203	4300	6503	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:97000455C>A	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.2083C>A	6.37:g.97000455C>A	ENSP00000358283:p.Gln695Lys					KIAA0776_uc010kck.2_RNA	p.Q695K	NM_015323	NP_056138	O94874	UFL1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0934)	18	2131	+		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)	695					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.2083C>A	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995685	0.93167	.	.	ENSG00000014123	ENST00000369278	T	0.49720	0.77	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.78049	2.395	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.59085	-0.7520	10	0.31617	T	0.26	-12.0723	19.9093	0.97021	0.0:1.0:0.0:0.0	.	695	O94874	UFL1_HUMAN	K	695	ENSP00000358283:Q695K	ENSP00000358283:Q695K	Q	+	1	0	KIAA0776	97107176	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.226000	0.78060	2.785000	0.95823	0.655000	0.94253	CAG		0.423	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1		NM_015323		22	20	1	0	9.39395e-14	0.00632	1.0324e-13	22	20		
TRDN	10345	broad.mit.edu	37	6	123759226	123759226	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:123759226T>C	ENST00000398178.3	-	12	1054	c.1033A>G	c.(1033-1035)Att>Gtt	p.I345V	RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000334268.4_Missense_Mutation_p.I345V|RP11-532N4.2_ENST00000587049.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000434768.1_RNA	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	345					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCCACATCAATGGCAGTTTCC	0.338																																						uc003pzj.1		NaN																	0				ovary(1)	1						c.(1033-1035)ATT>GTT		triadin							137.0	131.0	133.0					6																	123759226		1856	4085	5941	SO:0001583	missense	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123759226T>C	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1033A>G	6.37:g.123759226T>C	ENSP00000381240:p.Ile345Val					TRDN_uc003pzk.1_Missense_Mutation_p.I346V|TRDN_uc003pzl.1_Missense_Mutation_p.I346V|uc003pzm.1_5'Flank	p.I345V	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	12	1055	-			345			Lumenal.		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.1033A>G	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	T	0.131	-1.114023	0.01799	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.63417	-0.04;-0.04	5.49	-8.2	0.01045	.	1.401140	0.04403	N	0.364570	T	0.26195	0.0639	L	0.27053	0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.06625	-1.0816	10	0.28530	T	0.3	10.7025	16.5968	0.84798	0.0:0.6568:0.0:0.3432	.	345;346;345	Q5SWK9;Q8IVK2;Q13061	.;.;TRDN_HUMAN	V	345	ENSP00000381240:I345V;ENSP00000333984:I345V	ENSP00000333984:I345V	I	-	1	0	TRDN	123800925	0.000000	0.05858	0.000000	0.03702	0.749000	0.42624	-2.030000	0.01429	-1.459000	0.01914	-1.140000	0.01884	ATT		0.338	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					5	0	0	0	0	0.001984	0	5	0		
EYA4	2070	broad.mit.edu	37	6	133769307	133769307	+	Silent	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:133769307T>A	ENST00000367895.5	+	5	731	c.267T>A	c.(265-267)tcT>tcA	p.S89S	EYA4_ENST00000531901.1_Silent_p.S89S|EYA4_ENST00000431403.2_Silent_p.S89S|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000355167.3_Silent_p.S89S	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	89					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACACCCCCTCTTCTGCAACAA	0.448																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3		NaN																	0				large_intestine(2)	2						c.(265-267)TCT>TCA		eyes absent 4 isoform a							132.0	108.0	116.0					6																	133769307		2203	4300	6503	SO:0001819	synonymous_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133769307T>A	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.267T>A	6.37:g.133769307T>A						EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Silent_p.S89S|EYA4_uc003qee.3_Intron|EYA4_uc011ecs.1_Silent_p.S89S|uc003qef.1_Intron	p.S89S	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	5	725	+	Colorectal(23;0.221)		89					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	c.267T>A	CCDS5165.1																																																																																				0.448	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2		NM_004100		28	23	0	0	0	0.005524	0	28	23		
CNKSR3	154043	broad.mit.edu	37	6	154727695	154727695	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:154727695G>A	ENST00000607772.1	-	13	2005	c.1461C>T	c.(1459-1461)ccC>ccT	p.P487P	CNKSR3_ENST00000479339.1_Silent_p.P407P|CNKSR3_ENST00000433165.2_Silent_p.P312P	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	487	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GCTCGGTCGTGGGTCTGGAGA	0.577																																						uc003qpy.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(1459-1461)CCC>CCT		CNKSR family member 3							81.0	78.0	79.0					6																	154727695		2203	4300	6503	SO:0001819	synonymous_variant	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154727695G>A	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1461C>T	6.37:g.154727695G>A							p.P487P	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	13	1966	-		Ovarian(120;0.196)	487			DUF1170.		Q5SGD5|Q96N65	Silent	SNP	ENST00000607772.1	37	c.1461C>T	CCDS5246.1																																																																																				0.577	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2		NM_173515		31	23	0	0	0	0.002836	0	31	23		
ARID1B	57492	broad.mit.edu	37	6	157222596	157222596	+	Silent	SNP	G	G	T	rs370068335		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:157222596G>T	ENST00000350026.5	+	3	1825	c.1824G>T	c.(1822-1824)ccG>ccT	p.P608P	ARID1B_ENST00000275248.4_Silent_p.P550P|ARID1B_ENST00000346085.5_Silent_p.P621P|ARID1B_ENST00000367148.1_Silent_p.P608P	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	608	Gln-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGCAGCCCCCGCACCTCCCAC	0.617																																						uc003qqn.2		NaN																	0				ovary(1)|breast(1)	2						c.(1648-1650)CCG>CCT		AT rich interactive domain 1B (SWI1-like)							36.0	36.0	36.0					6																	157222596		2203	4299	6502	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157222596G>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1824G>T	6.37:g.157222596G>T						ARID1B_uc003qqo.2_Silent_p.P563P|ARID1B_uc003qqp.2_Silent_p.P550P	p.P550P	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	3	1802	+		Breast(66;0.000162)|Ovarian(120;0.0265)	608			Gln-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.1650G>T	CCDS5251.2																																																																																				0.617	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1		NM_020732		12	25	1	0	3.52763e-06	0.00499	3.64248e-06	12	25		
RSPH3	83861	broad.mit.edu	37	6	159404769	159404769	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:159404769C>T	ENST00000252655.1	-	4	1032	c.843G>A	c.(841-843)ttG>ttA	p.L281L	RSPH3_ENST00000367069.2_Silent_p.L139L|RSPH3_ENST00000297262.3_Intron|RSPH3_ENST00000449822.1_Intron	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	281										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GTGGTCTGTCCAAAAATGCAT	0.393																																						uc003qrx.2		NaN																	0				ovary(1)|skin(1)	2						c.(841-843)TTG>TTA		radial spoke 3 homolog							187.0	173.0	178.0					6																	159404769		2203	4300	6503	SO:0001819	synonymous_variant	83861							g.chr6:159404769C>T	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.843G>A	6.37:g.159404769C>T						RSPH3_uc010kju.2_Intron|RSPH3_uc003qry.1_Silent_p.L281L	p.L281L	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	4	1033	-		Breast(66;0.00519)|Ovarian(120;0.123)	281					Q96LQ5|Q96LX2|Q9BX75	Silent	SNP	ENST00000252655.1	37	c.843G>A	CCDS5260.1																																																																																				0.393	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_031924		21	30	0	0	0	0.005443	0	21	30		
LPA	4018	broad.mit.edu	37	6	161022029	161022029	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:161022029C>A	ENST00000316300.5	-	19	3091	c.3047G>T	c.(3046-3048)cGa>cTa	p.R1016L	LPA_ENST00000447678.1_Missense_Mutation_p.R1016L			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3524	Kringle 9. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATCTGAGCATCGTGTCAGGTT	0.498																																						uc003qtl.2		NaN																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(3046-3048)CGA>CTA		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						83.0	87.0	85.0					6																	161022029		2199	4300	6499	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161022029C>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3047G>T	6.37:g.161022029C>A	ENSP00000321334:p.Arg1016Leu						p.R1016L	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	20	3167	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3524			Kringle 31.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3047G>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	13.66	2.303627	0.40795	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.67171	-0.25;-0.25	2.4	-3.95	0.04118	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.50718	0.1632	L	0.41027	1.25	0.09310	N	1	D	0.55800	0.973	D	0.65773	0.938	T	0.46062	-0.9218	9	0.51188	T	0.08	.	4.317	0.10998	0.0:0.2736:0.186:0.5404	.	3524	P08519	APOA_HUMAN	L	1016	ENSP00000321334:R1016L;ENSP00000395608:R1016L	ENSP00000321334:R1016L	R	-	2	0	LPA	160942019	0.000000	0.05858	0.000000	0.03702	0.513000	0.34164	-0.741000	0.04855	-1.001000	0.03434	0.205000	0.17691	CGA		0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1		NM_005577		16	16	1	0	1.10513e-12	0.002299	1.20461e-12	16	16		
T	6862	broad.mit.edu	37	6	166571949	166571949	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:166571949G>A	ENST00000296946.2	-	9	1630	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y	T_ENST00000366871.3_Missense_Mutation_p.H330Y	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	388					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GAGACCGGATGGGTGAGGGGT	0.716									Chordoma, Familial Clustering of																													uc003quu.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(1162-1164)CAT>TAT		transcription factor T							42.0	51.0	48.0					6																	166571949		2202	4298	6500	SO:0001583	missense	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166571949G>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1162C>T	6.37:g.166571949G>A	ENSP00000296946:p.His388Tyr					T_uc003qut.1_Missense_Mutation_p.H389Y|T_uc003quv.1_Missense_Mutation_p.H330Y	p.H388Y	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1655	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	388					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.1162C>T	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.449310	0.01080	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.83419	-1.72;-1.66	4.71	4.71	0.59529	.	0.571691	0.16763	N	0.200548	T	0.62011	0.2393	L	0.51422	1.61	0.28111	N	0.931014	B;B;B	0.11235	0.002;0.002;0.004	B;B;B	0.08055	0.002;0.003;0.002	T	0.51434	-0.8706	10	0.02654	T	1	.	17.0162	0.86420	0.0:0.0:1.0:0.0	.	330;388;330	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	Y	388;388;330	ENSP00000296946:H388Y;ENSP00000355836:H330Y	ENSP00000296946:H388Y	H	-	1	0	T	166491939	1.000000	0.71417	0.011000	0.14972	0.007000	0.05969	6.795000	0.75140	2.295000	0.77249	0.655000	0.94253	CAT		0.716	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2		NM_003181		14	12	0	0	0	0.008871	0	14	12		
ICA1	3382	broad.mit.edu	37	7	8196838	8196838	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:8196838G>C	ENST00000402384.3	-	8	978	c.712C>G	c.(712-714)Ctg>Gtg	p.L238V	AC007009.2_ENST00000577980.1_RNA|ICA1_ENST00000396675.3_Missense_Mutation_p.L238V|ICA1_ENST00000406470.2_Missense_Mutation_p.L238V|ICA1_ENST00000407906.1_Missense_Mutation_p.L238V|ICA1_ENST00000401396.1_Missense_Mutation_p.L226V|ICA1_ENST00000265577.7_Missense_Mutation_p.L237V|ICA1_ENST00000422063.2_Missense_Mutation_p.L238V			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	238	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AAATGAAGCAGAGTGGTCTGC	0.393																																						uc003srm.2		NaN																	0				central_nervous_system(1)	1						c.(712-714)CTG>GTG		islet cell autoantigen 1							79.0	78.0	79.0					7																	8196838		2203	4300	6503	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8196838G>C		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.712C>G	7.37:g.8196838G>C	ENSP00000385570:p.Leu238Val					ICA1_uc010ktr.2_Missense_Mutation_p.L238V|ICA1_uc003srl.2_Missense_Mutation_p.L226V|ICA1_uc003srn.3_Missense_Mutation_p.L164V|ICA1_uc003srp.3_Missense_Mutation_p.L237V|ICA1_uc010kts.2_Intron|ICA1_uc003srq.2_Missense_Mutation_p.L238V|ICA1_uc003srr.2_Missense_Mutation_p.L237V|ICA1_uc003sro.3_Missense_Mutation_p.L238V|ICA1_uc011jxg.1_Missense_Mutation_p.L238V|ICA1_uc003srs.1_Missense_Mutation_p.L238V	p.L238V	NM_022307	NP_071682	Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	8	779	-		Ovarian(82;0.0612)	238			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.712C>G	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329083	0.60743	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063;ENST00000407906;ENST00000317367	D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	4.71	2.89	0.33648	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.89972	0.6870	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D;D	0.76494	0.995;0.997;0.995;0.999;0.995;0.999	D;D;D;D;D;D	0.87578	0.955;0.936;0.91;0.998;0.971;0.998	D	0.90529	0.4494	10	0.62326	D	0.03	-7.4361	11.8253	0.52263	0.1529:0.0:0.8471:0.0	.	238;238;237;226;238;226	B3FTQ2;E7ENI6;Q96HG3;B9ZVM7;Q05084;E9PDL4	.;.;.;.;ICA69_HUMAN;.	V	238;238;237;238;226;238;238;226	ENSP00000385570:L238V;ENSP00000385651:L238V;ENSP00000265577:L237V;ENSP00000379908:L238V;ENSP00000385305:L226V;ENSP00000403982:L238V;ENSP00000386021:L238V;ENSP00000316074:L226V	ENSP00000265577:L237V	L	-	1	2	ICA1	8163363	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.179000	0.65043	1.354000	0.45846	0.462000	0.41574	CTG		0.393	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1		NM_004968		8	40	0	0	0	0.010729	0	8	40		
ETV1	2115	broad.mit.edu	37	7	14026281	14026281	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:14026281C>G	ENST00000430479.1	-	5	830	c.163G>C	c.(163-165)Gaa>Caa	p.E55Q	ETV1_ENST00000405218.2_Missense_Mutation_p.E55Q|ETV1_ENST00000343495.5_Missense_Mutation_p.E55Q|ETV1_ENST00000405192.2_Missense_Mutation_p.E55Q|ETV1_ENST00000403685.1_Missense_Mutation_p.E55Q|ETV1_ENST00000476720.2_5'Flank|ETV1_ENST00000405358.4_Missense_Mutation_p.E69Q|ETV1_ENST00000399357.3_5'Flank|ETV1_ENST00000242066.5_Missense_Mutation_p.E55Q|ETV1_ENST00000403527.1_5'Flank|ETV1_ENST00000420159.2_5'Flank	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	55					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGCCATGTTTCCTGTAATTGA	0.323			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	uc011jxq.1		NaN		Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3		Ewing sarcoma|prostate	TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	0				prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						c.(163-165)GAA>CAA		ets variant gene 1 isoform a							94.0	81.0	85.0					7																	14026281		1817	4076	5893	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:14026281C>G		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.163G>C	7.37:g.14026281C>G	ENSP00000405327:p.Glu55Gln					ETV1_uc011jxn.1_5'Flank|ETV1_uc011jxo.1_5'Flank|ETV1_uc011jxp.1_5'Flank|ETV1_uc003ssw.3_Missense_Mutation_p.E55Q|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.E55Q|ETV1_uc011jxs.1_Missense_Mutation_p.E55Q|ETV1_uc010ktv.2_5'Flank	p.E55Q	NM_004956	NP_004947	P50549	ETV1_HUMAN			5	902	-			55					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.163G>C	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675251	0.67928	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000405192;ENST00000405358;ENST00000405218;ENST00000403685;ENST00000421381;ENST00000431887	T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.81	5.81	0.92471	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.150569	0.64402	D	0.000016	T	0.71341	0.3328	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.998;0.999;0.996;1.0	T	0.72934	-0.4141	10	0.87932	D	0	.	20.081	0.97775	0.0:1.0:0.0:0.0	.	66;55;69;55	Q59GA7;P50549-2;B5MCT2;P50549	.;.;.;ETV1_HUMAN	Q	55;55;55;55;69;55;55;55;55	ENSP00000405327:E55Q;ENSP00000242066:E55Q;ENSP00000340853:E55Q;ENSP00000385381:E55Q;ENSP00000384085:E69Q;ENSP00000385551:E55Q;ENSP00000385686:E55Q;ENSP00000391043:E55Q;ENSP00000410819:E55Q	ENSP00000242066:E55Q	E	-	1	0	ETV1	13992806	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.260000	0.78391	2.753000	0.94483	0.555000	0.69702	GAA		0.323	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1		NM_004956		6	30	0	0	0	0.004482	0	6	30		
ABCB5	340273	broad.mit.edu	37	7	20785059	20785059	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:20785059G>A	ENST00000404938.2	+	26	4079	c.3427G>A	c.(3427-3429)Gag>Aag	p.E1143K	ABCB5_ENST00000258738.6_Missense_Mutation_p.E698K	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1143	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGGTCTCCCTGAGGTAAGAAA	0.398																																						uc003suw.3		NaN																	0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(2092-2094)GAG>AAG		ATP-binding cassette, sub-family B, member 5							45.0	42.0	43.0					7																	20785059		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20785059G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3427G>A	7.37:g.20785059G>A	ENSP00000384881:p.Glu1143Lys					ABCB5_uc010kuh.2_Missense_Mutation_p.E1143K	p.E698K	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			17	2638	+			698			Cytoplasmic (Potential).|ABC transporter 2.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.2092G>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767284	0.31320	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.90504	-2.68;-2.68	5.08	0.996	0.19844	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.201055	0.31909	N	0.006879	T	0.75155	0.3811	N	0.05177	-0.1	0.22737	N	0.998796	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.61778	-0.6993	10	0.25106	T	0.35	.	6.2516	0.20850	0.2286:0.2484:0.523:0.0	.	1143;698	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	K	1143;698	ENSP00000384881:E1143K;ENSP00000258738:E698K	ENSP00000258738:E698K	E	+	1	0	ABCB5	20751584	0.022000	0.18835	0.984000	0.44739	0.997000	0.91878	0.144000	0.16135	0.211000	0.20683	0.655000	0.94253	GAG		0.398	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2		NM_178559		9	13	0	0	0	0.008291	0	9	13		
DNAH11	8701	broad.mit.edu	37	7	21826250	21826250	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:21826250C>T	ENST00000409508.3	+	59	9637	c.9606C>T	c.(9604-9606)ctC>ctT	p.L3202L	DNAH11_ENST00000328843.6_Silent_p.L3209L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3209	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGTCAACCTCAGTGAGCTGA	0.517									Kartagener syndrome																													uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(9625-9627)CTC>CTT		dynein, axonemal, heavy chain 11							132.0	132.0	132.0					7																	21826250		1962	4145	6107	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21826250C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9606C>T	7.37:g.21826250C>T							p.L3209L	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			60	9658	+			3209			Stalk (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.9627C>T																																																																																					0.517	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		20	42	0	0	0	0.005443	0	20	42		
DFNA5	1687	broad.mit.edu	37	7	24756952	24756952	+	Silent	SNP	G	G	A	rs142033677		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:24756952G>A	ENST00000342947.3	-	5	1043	c.618C>T	c.(616-618)aaC>aaT	p.N206N	DFNA5_ENST00000419307.1_Silent_p.N42N|DFNA5_ENST00000545231.1_Silent_p.N42N|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.N206N|DFNA5_ENST00000409970.1_Silent_p.N42N	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	206					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CCAGCACCACGTTGGAGTCCT	0.582																																					GBM(78;184 1250 20134 20900 23600)	uc010kus.1		NaN																	0				ovary(1)	1						c.(616-618)AAC>AAT		deafness, autosomal dominant 5 protein isoform		G	,,	2,4404	4.2+/-10.8	0,2,2201	151.0	106.0	121.0		618,126,618	-4.1	0.2	7	dbSNP_134	121	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DFNA5	NM_001127453.1,NM_001127454.1,NM_004403.2	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	206/497,42/333,206/497	24756952	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1687				sensory perception of sound			g.chr7:24756952G>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.618C>T	7.37:g.24756952G>A						DFNA5_uc003swz.2_Silent_p.N42N|DFNA5_uc003sxa.1_Silent_p.N206N|DFNA5_uc010kut.1_Silent_p.N42N|DFNA5_uc003sxb.2_Silent_p.N206N	p.N206N	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN			5	706	-			206					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	c.618C>T	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	G	5.683	0.310609	0.10733	4.54E-4	0.0	ENSG00000105928	ENST00000446822	.	.	.	5.7	-4.12	0.03916	.	.	.	.	.	T	0.56877	0.2015	.	.	.	0.35298	D	0.782776	.	.	.	.	.	.	T	0.62534	-0.6834	4	.	.	.	-8.3502	14.1482	0.65364	0.6094:0.0:0.3906:0.0	.	.	.	.	M	31	.	.	T	-	2	0	DFNA5	24723477	0.001000	0.12720	0.172000	0.22920	0.660000	0.38997	-1.551000	0.02178	-0.674000	0.05253	-0.119000	0.15052	ACG		0.582	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2		NM_004403		32	17	0	0	0	0.006999	0	32	17		
CREB5	9586	broad.mit.edu	37	7	28763907	28763907	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:28763907T>A	ENST00000357727.2	+	7	1050	c.660T>A	c.(658-660)tgT>tgA	p.C220*	CREB5_ENST00000396300.2_Nonsense_Mutation_p.C213*|CREB5_ENST00000409603.1_Nonsense_Mutation_p.C187*|CREB5_ENST00000396299.2_Nonsense_Mutation_p.C187*|CREB5_ENST00000396298.2_Nonsense_Mutation_p.C81*	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	220					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GCAACCCCTGTGCTTCTCCCC	0.408																																						uc003szq.2		NaN																	0				skin(2)	2						c.(658-660)TGT>TGA		cAMP responsive element binding protein 5							87.0	77.0	80.0					7																	28763907		2203	4300	6503	SO:0001587	stop_gained	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28763907T>A	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.660T>A	7.37:g.28763907T>A	ENSP00000350359:p.Cys220*					CREB5_uc003szo.2_Nonsense_Mutation_p.C187*|CREB5_uc003szr.2_Nonsense_Mutation_p.C213*|CREB5_uc003szs.2_Nonsense_Mutation_p.C81*|CREB5_uc011jzr.1_Nonsense_Mutation_p.C69*	p.C220*	NM_182898	NP_878901	Q02930	CREB5_HUMAN			7	1050	+			220					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Nonsense_Mutation	SNP	ENST00000357727.2	37	c.660T>A	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	T	37	6.556298	0.97663	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	.	.	.	5.82	2.18	0.27775	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-4.2527	9.6431	0.39850	0.0:0.199:0.0:0.801	.	.	.	.	X	187;220;213;187;46;81	.	ENSP00000350359:C220X	C	+	3	2	CREB5	28730432	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.213000	0.17521	0.493000	0.27837	0.533000	0.62120	TGT		0.408	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4		NM_004904		12	27	0	0	0	0.006122	0	12	27		
FAM188B	84182	broad.mit.edu	37	7	30831104	30831104	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:30831104C>G	ENST00000265299.6	+	5	1064	c.987C>G	c.(985-987)ctC>ctG	p.L329L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	329										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTTGAAGCTCTACTTGCCTG	0.627																																						uc003tbt.2		NaN																	0					0						c.(985-987)CTC>CTG		hypothetical protein LOC84182							45.0	58.0	54.0					7																	30831104		2062	4198	6260	SO:0001819	synonymous_variant	84182							g.chr7:30831104C>G	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.987C>G	7.37:g.30831104C>G						FAM188B_uc010kwe.2_Silent_p.L300L	p.L329L	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			5	1064	+			329					Q71AZ7|Q9H6D2	Silent	SNP	ENST00000265299.6	37	c.987C>G	CCDS43565.1																																																																																				0.627	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1		NM_032222		10	35	0	0	0	0.001368	0	10	35		
GHRHR	2692	broad.mit.edu	37	7	31014105	31014105	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:31014105G>A	ENST00000326139.2	+	8	858		c.e8+1		GHRHR_ENST00000409904.3_Splice_Site|GHRHR_ENST00000461424.1_Splice_Site|GHRHR_ENST00000409316.1_Splice_Site	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor						activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	AGGACATCGCGTGAGTCGGAG	0.617																																						uc003tbx.2		NaN																	0				ovary(2)|lung(1)|breast(1)|large_intestine(1)	5						c.e8+1		growth hormone releasing hormone receptor	Sermorelin(DB00010)						107.0	86.0	93.0					7																	31014105		2203	4300	6503	SO:0001630	splice_region_variant	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31014105G>A		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.812+1G>A	7.37:g.31014105G>A						GHRHR_uc003tbw.1_Splice_Site_p.A271_splice|GHRHR_uc003tby.2_Splice_Site_p.A207_splice|GHRHR_uc003tbz.2_Splice_Site_p.R37_splice	p.A271_splice	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			8	860	+								Q99863	Splice_Site	SNP	ENST00000326139.2	37	c.812_splice	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	g	9.806	1.181812	0.21787	.	.	ENSG00000106128	ENST00000326139;ENST00000409904;ENST00000409316	.	.	.	5.09	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8561	0.41086	0.0955:0.0:0.9045:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GHRHR	30980630	1.000000	0.71417	0.944000	0.38274	0.008000	0.06430	4.871000	0.63042	1.278000	0.44430	-0.366000	0.07423	.		0.617	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			Intron	25	71	0	0	0	0.010818	0	25	71		
POU6F2	11281	broad.mit.edu	37	7	39247149	39247149	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:39247149C>A	ENST00000403058.1	+	5	595	c.441C>A	c.(439-441)acC>acA	p.T147T	POU6F2_ENST00000518318.2_Silent_p.T147T|POU6F2_ENST00000559001.1_Silent_p.T139T|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	147					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CGAATCTCACCAACATCCAAG	0.552																																						uc003thb.1		NaN																	0				central_nervous_system(1)	1						c.(439-441)ACC>ACA		POU class 6 homeobox 2 isoform 1							50.0	48.0	48.0					7																	39247149		2203	4300	6503	SO:0001819	synonymous_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39247149C>A	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.441C>A	7.37:g.39247149C>A						POU6F2_uc010kxo.2_Silent_p.T139T	p.T147T	NM_007252	NP_009183	P78424	PO6F2_HUMAN			4	483	+			147					A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	ENST00000403058.1	37	c.441C>A	CCDS34620.2																																																																																				0.552	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3		NM_007252		17	26	1	0	3.52763e-06	0.00499	3.64248e-06	17	26		
TNS3	64759	broad.mit.edu	37	7	47408849	47408849	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:47408849T>A	ENST00000398879.1	-	17	1760	c.1394A>T	c.(1393-1395)aAt>aTt	p.N465I	TNS3_ENST00000311160.9_Missense_Mutation_p.N465I|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	465					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AGCGTCTCCATTCACGTGAAC	0.582																																						uc003tnv.2		NaN																	0				ovary(4)	4						c.(1393-1395)AAT>ATT		tensin 3							63.0	69.0	67.0					7																	47408849		2164	4255	6419	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47408849T>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1394A>T	7.37:g.47408849T>A	ENSP00000381854:p.Asn465Ile					TNS3_uc003tnw.2_Missense_Mutation_p.N465I	p.N465I	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			17	1761	-			465					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.1394A>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	16.55	3.153920	0.57259	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718	D;D;D	0.96365	-3.85;-3.85;-3.99	5.45	5.45	0.79879	.	0.150017	0.43260	D	0.000600	D	0.97773	0.9269	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98012	1.0366	10	0.51188	T	0.08	-41.314	13.4354	0.61082	0.0:0.0:0.0:1.0	.	465	Q68CZ2	TENS3_HUMAN	I	465;575;465;568	ENSP00000312143:N465I;ENSP00000381854:N465I;ENSP00000414358:N568I	ENSP00000312143:N465I	N	-	2	0	TNS3	47375374	1.000000	0.71417	0.997000	0.53966	0.226000	0.24999	6.157000	0.71846	2.056000	0.61249	0.533000	0.62120	AAT		0.582	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1		NM_022748		18	24	0	0	0	0.00333	0	18	24		
C7orf57	136288	broad.mit.edu	37	7	48081010	48081010	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:48081010C>T	ENST00000348904.3	+	3	347	c.135C>T	c.(133-135)agC>agT	p.S45S	C7orf57_ENST00000420324.1_Silent_p.S90S|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000539619.1_Silent_p.S45S|C7orf57_ENST00000430738.1_Silent_p.S90S	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	45										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CAGGTCTCAGCAATTTGGGAG	0.537																																						uc003toh.3		NaN																	0				ovary(1)	1						c.(133-135)AGC>AGT		hypothetical protein LOC136288							51.0	54.0	53.0					7																	48081010		1923	4140	6063	SO:0001819	synonymous_variant	136288							g.chr7:48081010C>T	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.135C>T	7.37:g.48081010C>T						C7orf57_uc003toi.3_5'UTR	p.S45S	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN			3	347	+			45					C9JBJ8	Silent	SNP	ENST00000348904.3	37	c.135C>T	CCDS47583.1																																																																																				0.537	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1		NM_001100159		13	23	0	0	0	0.004007	0	13	23		
ABCA13	154664	broad.mit.edu	37	7	48316091	48316091	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:48316091A>G	ENST00000435803.1	+	17	6852	c.6828A>G	c.(6826-6828)ctA>ctG	p.L2276L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2276					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCTTTTTCTAAAGGAAGATT	0.343																																						uc003toq.2		NaN																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(6826-6828)CTA>CTG		ATP binding cassette, sub-family A (ABC1),							25.0	27.0	26.0					7																	48316091		1800	4038	5838	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48316091A>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6828A>G	7.37:g.48316091A>G						ABCA13_uc010kyr.2_Silent_p.L1779L	p.L2276L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	6853	+			2276					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.6828A>G	CCDS47584.1																																																																																				0.343	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		12	8	0	0	0	0.001855	0	12	8		
IKZF1	10320	broad.mit.edu	37	7	50468169	50468169	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:50468169G>T	ENST00000331340.3	+	8	1559	c.1404G>T	c.(1402-1404)cgG>cgT	p.R468R	IKZF1_ENST00000357364.4_Silent_p.R381R|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Silent_p.R238R|IKZF1_ENST00000439701.1_Silent_p.R426R|IKZF1_ENST00000359197.5_Silent_p.R426R|IKZF1_ENST00000343574.5_Silent_p.R381R|IKZF1_ENST00000438033.1_Silent_p.R381R|IKZF1_ENST00000349824.4_Silent_p.R325R	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	468	Required for binding PP1CC. {ECO:0000250}.				B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AACACTGCCGGGTGCTCTTCC	0.622			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	uc003tow.3		NaN		"""Rec,Dom"""	yes		7	7p12.2	10320	D	IKAROS family zinc finger 1			L			ALL		28	Unknown(28)		haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(147)|lung(1)	148						c.(1402-1404)CGG>CGT		zinc finger protein, subfamily 1A, 1 (Ikaros)							47.0	52.0	50.0					7																	50468169		2183	4290	6473	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50468169G>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1404G>T	7.37:g.50468169G>T						IKZF1_uc003tox.3_Silent_p.R426R|IKZF1_uc003toy.3_Silent_p.R426R|IKZF1_uc011kck.1_Silent_p.R381R|IKZF1_uc003toz.3_Silent_p.R438R|IKZF1_uc010kyx.2_Silent_p.R208R|IKZF1_uc003tpa.3_Silent_p.R210R	p.R468R	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			9	1572	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	468			C2H2-type 5.|Required for binding PP1CC (By similarity).		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.1404G>T																																																																																					0.622	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1		NM_006060		22	14	1	0	3.11337e-16	0.002836	3.47904e-16	22	14		
POM121L12	285877	broad.mit.edu	37	7	53103682	53103682	+	Silent	SNP	C	C	G	rs371068983	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:53103682C>G	ENST00000408890.4	+	1	334	c.318C>G	c.(316-318)acC>acG	p.T106T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	106										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCGGGGAGACCGCTCTGGGGC	0.711																																						uc003tpz.2		NaN																	0					0						c.(316-318)ACC>ACG		POM121 membrane glycoprotein-like 12							22.0	26.0	24.0					7																	53103682		1968	4128	6096	SO:0001819	synonymous_variant	285877							g.chr7:53103682C>G		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.318C>G	7.37:g.53103682C>G							p.T106T	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	334	+			106					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.318C>G	CCDS43584.1																																																																																				0.711	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1		NM_182595		8	15	0	0	0	0.004482	0	8	15		
ZNF713	349075	broad.mit.edu	37	7	56006860	56006860	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:56006860G>A	ENST00000429591.2	+	4	492	c.454G>A	c.(454-456)Gga>Aga	p.G152R	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	152					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(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGATATTTAGGACAAGTAAC	0.413																																						uc003trc.1		NaN																	0				ovary(2)	2						c.(454-456)GGA>AGA		zinc finger protein 713							72.0	72.0	72.0					7																	56006860		2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56006860G>A	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.454G>A	7.37:g.56006860G>A	ENSP00000416662:p.Gly152Arg					ZNF713_uc003tra.1_Missense_Mutation_p.G165R|MRPS17_uc003trb.2_Intron	p.G152R	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	492	+	Breast(14;0.214)		152						Missense_Mutation	SNP	ENST00000429591.2	37	c.454G>A	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.408527	0.01155	.	.	ENSG00000178665	ENST00000429591	T	0.05081	3.5	3.57	3.57	0.40892	.	0.700022	0.11789	N	0.529383	T	0.02571	0.0078	N	0.04880	-0.145	0.24165	N	0.995642	B	0.13594	0.008	B	0.09377	0.004	T	0.43376	-0.9395	10	0.02654	T	1	.	7.0352	0.24989	0.1218:0.0:0.8782:0.0	.	152	Q8N859	ZN713_HUMAN	R	152	ENSP00000416662:G152R	ENSP00000416662:G152R	G	+	1	0	ZNF713	55974354	0.135000	0.22499	0.996000	0.52242	0.684000	0.39900	1.837000	0.39201	2.281000	0.76405	0.591000	0.81541	GGA		0.413	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1		NM_182633		12	11	0	0	0	0.004007	0	12	11		
ZNF679	168417	broad.mit.edu	37	7	63721301	63721301	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:63721301C>T	ENST00000421025.1	+	4	525	c.256C>T	c.(256-258)Cac>Tac	p.H86Y	ZNF679_ENST00000255746.4_Missense_Mutation_p.H86Y	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	86	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GGTAACCAAACACCCAGGTAA	0.428																																						uc003tsx.2		NaN																	0				skin(1)	1						c.(256-258)CAC>TAC		zinc finger protein 679							163.0	146.0	151.0					7																	63721301		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63721301C>T	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.256C>T	7.37:g.63721301C>T	ENSP00000416809:p.His86Tyr						p.H86Y	NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN			4	525	+			86			KRAB.			Missense_Mutation	SNP	ENST00000421025.1	37	c.256C>T	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.197245	0.00299	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.06142	3.34;3.34	0.521	0.521	0.17046	Krueppel-associated box (1);	.	.	.	.	T	0.02119	0.0066	N	0.16201	0.385	0.09310	N	1	P	0.43826	0.818	B	0.29353	0.101	T	0.26224	-1.0109	8	0.02654	T	1	.	.	.	.	.	86	Q8IYX0	ZN679_HUMAN	Y	86	ENSP00000416809:H86Y;ENSP00000255746:H86Y	ENSP00000255746:H86Y	H	+	1	0	ZNF679	63358736	0.000000	0.05858	0.014000	0.15608	0.027000	0.11550	0.311000	0.19380	0.522000	0.28464	0.313000	0.20887	CAC		0.428	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2		NM_153363		3	21	0	0	0	0.004672	0	3	21		
SRRM3	222183	broad.mit.edu	37	7	75890733	75890733	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:75890733G>A	ENST00000326382.8	+	7	845		c.e7+1		SRRM3_ENST00000388802.4_Splice_Site	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GCCGAGACAGGTACCCTTGCT	0.667																																						uc010ldi.2		NaN																	0					0						c.e7+1		serine/arginine repetitive matrix 3							47.0	49.0	48.0					7																	75890733		1568	3582	5150	SO:0001630	splice_region_variant	222183							g.chr7:75890733G>A	AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.638+1G>A	7.37:g.75890733G>A							p.R213_splice	NM_001110199	NP_001103669					7	847	+								A6ND75	Splice_Site	SNP	ENST00000326382.8	37	c.638_splice		.	.	.	.	.	.	.	.	.	.	G	22.8	4.331511	0.81690	.	.	ENSG00000177679	ENST00000388802;ENST00000326382	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9514	0.79843	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRRM3	75728669	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.063000	0.64332	2.622000	0.88805	0.655000	0.94253	.		0.667	SRRM3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000252889.2		NM_001110199	Intron	16	1	0	0	0	0.002299	0	16	1		
GSAP	54103	broad.mit.edu	37	7	76950709	76950709	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:76950709A>G	ENST00000257626.7	-	25	2013	c.1935T>C	c.(1933-1935)atT>atC	p.I645I	GSAP_ENST00000441833.2_Intron|GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	645					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										CGATGTGGCAAATGAGATCCA	0.453																																						uc003ugf.2		NaN																	0				central_nervous_system(1)	1						c.(1933-1935)ATT>ATC		pigeon homolog							117.0	115.0	116.0					7																	76950709		1988	4174	6162	SO:0001819	synonymous_variant	54103				beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding	g.chr7:76950709A>G		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1935T>C	7.37:g.76950709A>G						PION_uc011kgo.1_Intron|PION_uc003ugd.2_Silent_p.I39I	p.I645I	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN			25	2014	-			645					A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	ENST00000257626.7	37	c.1935T>C	CCDS34672.2																																																																																				0.453	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2		NM_017439		4	86	0	0	0	0.00308	0	4	86		
MTERF1	7978	broad.mit.edu	37	7	91503775	91503775	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:91503775A>T	ENST00000351870.3	-	3	426	c.333T>A	c.(331-333)ctT>ctA	p.L111L	MTERF_ENST00000406735.2_Silent_p.L91L|MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000419292.1_Silent_p.L91L	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		111					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			CTTTGGAAAGAAGGAACATCT	0.428																																						uc003ulb.1		NaN																	0					0						c.(331-333)CTT>CTA		mitochondrial transcription termination factor							161.0	145.0	150.0					7																	91503775		2203	4300	6503	SO:0001819	synonymous_variant	7978				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding	g.chr7:91503775A>T																												ENST00000351870.3:c.333T>A	7.37:g.91503775A>T						MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Silent_p.L111L|MTERF_uc011khm.1_Silent_p.L91L|MTERF_uc010leu.1_Silent_p.L91L	p.L111L	NM_006980	NP_008911	Q99551	MTERF_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)		2	377	-	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		111					A4D1E3|Q32NF8|Q53H51|Q9BVR7	Silent	SNP	ENST00000351870.3	37	c.333T>A	CCDS5621.1																																																																																				0.428	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1				93	40	0	0	0	0.00361	0	93	40		
NPTX2	4885	broad.mit.edu	37	7	98256632	98256632	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:98256632C>T	ENST00000265634.3	+	4	1209	c.1044C>T	c.(1042-1044)ggC>ggT	p.G348G		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	348	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCCGGGGGCGTGCTGATCC	0.677																																						uc003upl.2		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(1042-1044)GGC>GGT		neuronal pentraxin II precursor							54.0	45.0	48.0					7																	98256632		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256632C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1044C>T	7.37:g.98256632C>T							p.G348G	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1221	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		348			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.1044C>T	CCDS5657.1																																																																																				0.677	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1		NM_002523		53	11	0	0	0	0.00361	0	53	11		
ZNF394	84124	broad.mit.edu	37	7	99097527	99097527	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:99097527G>A	ENST00000337673.6	-	1	393	c.190C>T	c.(190-192)Cga>Tga	p.R64*	ZNF394_ENST00000426306.2_Nonsense_Mutation_p.R64*|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	64	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGTGCAGTCGAGAAGTTTCG	0.627																																					Ovarian(24;589 697 9939 12704 40742)	uc003uqs.2		NaN																	0					0						c.(190-192)CGA>TGA		zinc finger protein 394							46.0	49.0	48.0					7																	99097527		2203	4300	6503	SO:0001587	stop_gained	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99097527G>A	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.190C>T	7.37:g.99097527G>A	ENSP00000337363:p.Arg64*					ZNF394_uc003uqt.2_5'UTR|ZNF394_uc003uqu.1_Nonsense_Mutation_p.R64*	p.R64*	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN			1	351	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		64			SCAN box.		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Nonsense_Mutation	SNP	ENST00000337673.6	37	c.190C>T	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	G	36	5.747545	0.96882	.	.	ENSG00000160908	ENST00000337673;ENST00000426306	.	.	.	4.04	3.14	0.36123	.	0.194370	0.25827	N	0.028049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1164	0.25418	0.1252:0.0:0.8748:0.0	.	.	.	.	X	64	.	ENSP00000337363:R64X	R	-	1	2	ZNF394	98935463	0.017000	0.18338	0.016000	0.15963	0.488000	0.33401	1.651000	0.37302	1.256000	0.44068	0.561000	0.74099	CGA		0.627	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1		NM_032164		7	46	0	0	0	0.001984	0	7	46		
GIGYF1	64599	broad.mit.edu	37	7	100280767	100280767	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:100280767G>C	ENST00000275732.5	-	19	3489	c.2280C>G	c.(2278-2280)ctC>ctG	p.L760L	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	760					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGCCAGCCCAGAGTGGGGGCG	0.677																																						uc003uwg.1		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2278-2280)CTC>CTG		PERQ amino acid rich, with GYF domain 1							6.0	8.0	7.0					7																	100280767		2093	4165	6258	SO:0001819	synonymous_variant	64599							g.chr7:100280767G>C	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2280C>G	7.37:g.100280767G>C							p.L760L	NM_022574	NP_072096	O75420	PERQ1_HUMAN			19	3289	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		760					Q6Y7W7|Q8WZ38	Silent	SNP	ENST00000275732.5	37	c.2280C>G	CCDS34708.1																																																																																				0.677	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2		NM_022574		8	1	0	0	0	0.006214	0	8	1		
MUC17	140453	broad.mit.edu	37	7	100684490	100684490	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:100684490A>G	ENST00000306151.4	+	3	9857	c.9793A>G	c.(9793-9795)Act>Gct	p.T3265A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3265	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATCTCCTCCCACTGCTGAAGG	0.517																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9793-9795)ACT>GCT		mucin 17 precursor							309.0	314.0	312.0					7																	100684490		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684490A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9793A>G	7.37:g.100684490A>G	ENSP00000302716:p.Thr3265Ala					MUC17_uc010lho.1_RNA	p.T3265A	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9846	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3265			Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9793A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	4.123	0.021007	0.08006	.	.	ENSG00000169876	ENST00000306151	T	0.02067	4.47	1.34	-2.67	0.06059	.	.	.	.	.	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	P	0.46578	0.88	P	0.62184	0.899	T	0.26643	-1.0097	9	0.15066	T	0.55	.	4.8398	0.13485	0.2505:0.5461:0.0:0.2033	.	3265	Q685J3	MUC17_HUMAN	A	3265	ENSP00000302716:T3265A	ENSP00000302716:T3265A	T	+	1	0	MUC17	100471210	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.776000	0.04674	-1.596000	0.01611	-1.626000	0.00786	ACT		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		516	155	0	0	0	0.00361	0	516	155		
NAPEPLD	222236	broad.mit.edu	37	7	102743924	102743924	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:102743924C>G	ENST00000417955.1	-	5	1288	c.1134G>C	c.(1132-1134)ttG>ttC	p.L378F	NAPEPLD_ENST00000465647.1_Missense_Mutation_p.L378F|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.L451F|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.L378F|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.L378F			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	378					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTCCATGCTTCAAGACAAAAA	0.348																																						uc003vbc.2		NaN																	0				skin(1)	1						c.(1132-1134)TTG>TTC		N-acyl phosphatidylethanolamine phospholipase D							67.0	62.0	64.0					7																	102743924		2203	4299	6502	SO:0001583	missense	222236				phospholipid catabolic process	membrane	metal ion binding	g.chr7:102743924C>G	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.1134G>C	7.37:g.102743924C>G	ENSP00000407112:p.Leu378Phe					NAPEPLD_uc003vbd.2_Missense_Mutation_p.L378F|NAPEPLD_uc011klj.1_Missense_Mutation_p.L451F|NAPEPLD_uc003vbe.2_RNA	p.L378F	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN			5	1462	-			378					Q5CZ87|Q769K1	Missense_Mutation	SNP	ENST00000417955.1	37	c.1134G>C	CCDS5729.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639818	0.67244	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523	T;T;T;T;T	0.37752	1.24;1.24;1.24;1.24;1.18	5.56	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	M	0.85299	2.745	0.48762	D	0.9997	P;P	0.51933	0.949;0.884	P;B	0.46362	0.514;0.41	T	0.48937	-0.8990	10	0.09843	T	0.71	-31.5817	8.7335	0.34514	0.0:0.7026:0.0:0.2974	.	451;378	B4E3B0;Q6IQ20	.;NAPEP_HUMAN	F	378;378;378;378;451	ENSP00000340093:L378F;ENSP00000407112:L378F;ENSP00000419188:L378F;ENSP00000392775:L378F;ENSP00000414364:L451F	ENSP00000340093:L378F	L	-	3	2	NAPEPLD	102531160	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.375000	0.20518	0.810000	0.34279	0.655000	0.94253	TTG		0.348	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1		NM_198990		14	7	0	0	0	0.003163	0	14	7		
KMT2E	55904	broad.mit.edu	37	7	104731675	104731675	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:104731675A>G	ENST00000311117.3	+	15	2181	c.1636A>G	c.(1636-1638)Att>Gtt	p.I546V	KMT2E_ENST00000334877.4_Missense_Mutation_p.I546V|KMT2E_ENST00000476671.1_Missense_Mutation_p.I546V|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.I546V	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	546					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ACCAGATTTTATTGATGATAT	0.318																																						uc003vcm.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1636-1638)ATT>GTT		myeloid/lymphoid or mixed-lineage leukemia 5							51.0	56.0	55.0					7																	104731675		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104731675A>G	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1636A>G	7.37:g.104731675A>G	ENSP00000312379:p.Ile546Val					MLL5_uc003vcl.2_Missense_Mutation_p.I546V|MLL5_uc010ljc.2_Missense_Mutation_p.I546V	p.I546V	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			15	2170	+			546					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.1636A>G	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711982	0.30322	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000257745;ENST00000476671	D;D;D;D	0.93366	-2.82;-2.43;-2.82;-3.21	5.46	4.31	0.51392	.	0.123185	0.52532	D	0.000079	D	0.85461	0.5702	L	0.34521	1.04	0.80722	D	1	P;B	0.39131	0.661;0.051	B;B	0.32533	0.147;0.052	T	0.82141	-0.0604	10	0.07175	T	0.84	.	11.4606	0.50208	0.9291:0.0:0.0709:0.0	.	546;546	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	V	546	ENSP00000312379:I546V;ENSP00000335599:I546V;ENSP00000257745:I546V;ENSP00000417888:I546V	ENSP00000257745:I546V	I	+	1	0	MLL5	104518911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.572000	0.74005	1.013000	0.39391	0.533000	0.62120	ATT		0.318	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1				3	10	0	0	0	0.004672	0	3	10		
CADPS2	93664	broad.mit.edu	37	7	122377026	122377026	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:122377026C>T	ENST00000449022.2	-	2	455	c.436G>A	c.(436-438)Gtt>Att	p.V146I	CADPS2_ENST00000334010.7_Missense_Mutation_p.V146I|CADPS2_ENST00000313070.7_Missense_Mutation_p.V146I|CADPS2_ENST00000412584.2_Missense_Mutation_p.V146I	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	146					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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TAACTCCGAACTGCGTTGCAA	0.378																																						uc010lkp.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(436-438)GTT>ATT		Ca2+-dependent activator protein for secretion 2							88.0	82.0	84.0					7																	122377026		1855	4118	5973	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122377026C>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.436G>A	7.37:g.122377026C>T	ENSP00000398481:p.Val146Ile					CADPS2_uc010lkq.2_Missense_Mutation_p.V146I	p.V146I	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			2	599	-			146					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.436G>A	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.037285	0.54896	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.81	5.81	0.92471	.	0.064020	0.64402	D	0.000009	T	0.80834	0.4699	L	0.49640	1.575	0.80722	D	1	B;B	0.26318	0.058;0.146	B;B	0.25405	0.06;0.038	T	0.75777	-0.3198	10	0.36615	T	0.2	-14.4939	19.067	0.93116	0.0:1.0:0.0:0.0	.	146;146	Q86UW7-2;Q86UW7	.;CAPS2_HUMAN	I	146;146;146;113;146;146	ENSP00000325581:V146I;ENSP00000333940:V146I;ENSP00000400401:V146I;ENSP00000398481:V146I	ENSP00000325581:V146I	V	-	1	0	CADPS2	122164262	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	4.847000	0.62867	2.739000	0.93911	0.585000	0.79938	GTT		0.378	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2		NM_017954		10	16	0	0	0	0.001855	0	10	16		
AHCYL2	23382	broad.mit.edu	37	7	129040163	129040163	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:129040163G>C	ENST00000325006.3	+	6	910	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q	AHCYL2_ENST00000490911.1_Missense_Mutation_p.E183Q|AHCYL2_ENST00000446212.1_Missense_Mutation_p.E184Q|AHCYL2_ENST00000531335.2_Missense_Mutation_p.E205Q|AHCYL2_ENST00000446544.2_Missense_Mutation_p.E285Q|AHCYL2_ENST00000474594.1_Missense_Mutation_p.E183Q	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	286					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGGAGAGTCAGAAGATGACTT	0.448																																					Pancreas(160;1736 1964 29875 40941 45605)	uc011kov.1		NaN																	0				ovary(2)	2						c.(856-858)GAA>CAA		S-adenosylhomocysteine hydrolase-like 2 isoform							187.0	184.0	185.0					7																	129040163		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129040163G>C	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.856G>C	7.37:g.129040163G>C	ENSP00000315931:p.Glu286Gln					AHCYL2_uc003vot.2_Missense_Mutation_p.E285Q|AHCYL2_uc003vov.2_Missense_Mutation_p.E183Q|AHCYL2_uc011kow.1_Missense_Mutation_p.E184Q|AHCYL2_uc011kox.1_Missense_Mutation_p.E183Q	p.E286Q	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN			6	910	+			286					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.856G>C	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.146130|5.146130	0.94603|0.94603	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911|ENST00000466924	T;T;T;T;T;T|.	0.77750|.	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84170|0.84170	0.5413|0.5413	M|M	0.89658|0.89658	3.05|3.05	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.999;0.998|.	D|D	0.87319|0.87319	0.2317|0.2317	10|5	0.66056|.	D|.	0.02|.	-9.4774|-9.4774	17.128|17.128	0.86719|0.86719	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	183;184;286;183;285|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	Q|H	286;285;205;183;184;183|192	ENSP00000315931:E286Q;ENSP00000413639:E285Q;ENSP00000431787:E205Q;ENSP00000420459:E183Q;ENSP00000405267:E184Q;ENSP00000420801:E183Q|.	ENSP00000315931:E286Q|.	E|Q	+|+	1|3	0|2	AHCYL2|AHCYL2	128827399|128827399	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.384000|9.384000	0.97219|0.97219	2.446000|2.446000	0.82766|0.82766	0.563000|0.563000	0.77884|0.77884	GAA|CAG		0.448	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1				19	43	0	0	0	0.002299	0	19	43		
LRGUK	136332	broad.mit.edu	37	7	133812382	133812382	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:133812382G>A	ENST00000285928.2	+	1	331	c.262G>A	c.(262-264)Gag>Aag	p.E88K	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	88						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.E88Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGCGGGATCCGAGGAGTCCTC	0.617																																						uc003vrm.1		NaN																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|kidney(1)	5						c.(262-264)GAG>AAG		leucine-rich repeats and guanylate kinase domain							89.0	85.0	87.0					7																	133812382		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133812382G>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.262G>A	7.37:g.133812382G>A	ENSP00000285928:p.Glu88Lys						p.E88K	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			1	278	+			88					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.262G>A	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892876	0.33442	.	.	ENSG00000155530	ENST00000285928	T	0.38401	1.14	3.95	2.04	0.26737	.	0.684834	0.13209	N	0.405352	T	0.32436	0.0829	M	0.63428	1.95	0.09310	N	1	D	0.54964	0.969	B	0.40636	0.335	T	0.13764	-1.0497	10	0.35671	T	0.21	-3.6927	8.771	0.34733	0.0:0.0:0.5891:0.4109	.	88	Q96M69	LRGUK_HUMAN	K	88	ENSP00000285928:E88K	ENSP00000285928:E88K	E	+	1	0	LRGUK	133462922	0.606000	0.26949	0.154000	0.22540	0.171000	0.22731	0.581000	0.23819	0.563000	0.29222	0.655000	0.94253	GAG		0.617	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1		NM_144648		22	39	0	0	0	0.012213	0	22	39		
SMARCD3	6604	broad.mit.edu	37	7	150939810	150939810	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:150939810C>T	ENST00000262188.8	-	4	863	c.453G>A	c.(451-453)atG>atA	p.M151I	RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000356800.2_Missense_Mutation_p.M138I|SMARCD3_ENST00000477169.1_5'UTR|SMARCD3_ENST00000392811.2_Missense_Mutation_p.M138I	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	151					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGGCACCTTCATGGGCCTCT	0.577																																						uc003wjs.2		NaN																	0				ovary(1)|lung(1)	2						c.(451-453)ATG>ATA		SWI/SNF related, matrix associated, actin							155.0	166.0	162.0					7																	150939810		2203	4300	6503	SO:0001583	missense	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150939810C>T	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.453G>A	7.37:g.150939810C>T	ENSP00000262188:p.Met151Ile					SMARCD3_uc003wjt.2_Missense_Mutation_p.M138I|SMARCD3_uc003wju.2_Missense_Mutation_p.M138I|SMARCD3_uc011kvh.1_Missense_Mutation_p.M151I|SMARCD3_uc010lqa.1_Missense_Mutation_p.M151I	p.M151I	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	554	-			151					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	37	c.453G>A	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491526	0.64074	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683;ENST00000491651	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	L	0.41236	1.265	0.80722	D	1	P;B;P;B	0.45126	0.851;0.011;0.656;0.0	P;B;P;B	0.58391	0.838;0.041;0.584;0.001	T	0.26608	-1.0098	10	0.11485	T	0.65	-26.4109	16.0597	0.80832	0.0:1.0:0.0:0.0	.	151;151;138;151	B7Z4U8;B7ZA58;Q6STE5-2;Q6STE5	.;.;.;SMRD3_HUMAN	I	151;138;138;103;138	ENSP00000262188:M151I;ENSP00000376558:M138I;ENSP00000349254:M138I;ENSP00000419886:M138I	ENSP00000262188:M151I	M	-	3	0	SMARCD3	150570743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.566000	0.36396	2.370000	0.80446	0.563000	0.77884	ATG		0.577	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1		NM_001003801		54	127	0	0	0	0.00361	0	54	127		
DPP6	1804	broad.mit.edu	37	7	154598703	154598703	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:154598703G>T	ENST00000377770.3	+	16	1688		c.e16-1		DPP6_ENST00000332007.3_Splice_Site|DPP6_ENST00000427557.1_Splice_Site|DPP6_ENST00000404039.1_Splice_Site			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						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)			TGCTCTTCCAGTGCCAACACG	0.597																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NaN																	0				pancreas(3)|breast(1)	4						c.e16-1		dipeptidyl-peptidase 6 isoform 1							101.0	105.0	103.0					7																	154598703		2134	4244	6378	SO:0001630	splice_region_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154598703G>T	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.1548-1G>T	7.37:g.154598703G>T						DPP6_uc003wli.2_Splice_Site_p.S452_splice|DPP6_uc003wlm.2_Splice_Site_p.S454_splice|DPP6_uc011kvq.1_Splice_Site_p.S409_splice	p.S516_splice	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		16	1677	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)							Splice_Site	SNP	ENST00000377770.3	37	c.1548_splice		.	.	.	.	.	.	.	.	.	.	G	15.68	2.904660	0.52333	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3668	0.83335	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPP6	154229636	1.000000	0.71417	0.453000	0.27007	0.525000	0.34531	8.288000	0.89921	2.107000	0.64212	0.561000	0.74099	.		0.597	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1		NM_130797	Intron	33	54	1	0	2.04263e-09	0.004289	2.16969e-09	33	54		
VIPR2	7434	broad.mit.edu	37	7	158851235	158851235	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:158851235G>T	ENST00000262178.2	-	5	577	c.392C>A	c.(391-393)aCa>aAa	p.T131K	VIPR2_ENST00000377633.3_Missense_Mutation_p.T115K|VIPR2_ENST00000402066.1_Missense_Mutation_p.T272K	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	131					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GTAGCCCAGTGTATAAATGGC	0.413																																					Pancreas(154;1876 1931 2329 17914 20079)	uc003woh.2		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(391-393)ACC>AAC		vasoactive intestinal peptide receptor 2							153.0	145.0	148.0					7																	158851235		2203	4300	6503	SO:0001583	missense	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158851235G>T	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.392C>A	7.37:g.158851235G>T	ENSP00000262178:p.Thr131Lys					VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	p.T131N	NM_003382	NP_003373	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	5	578	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	131			Helical; Name=1; (Potential).		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	c.392C>A	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	g	22.6	4.308404	0.81247	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.38077	1.16;1.16;1.16	5.7	5.7	0.88788	GPCR, family 2-like (1);	0.000000	0.53938	D	0.000044	T	0.68915	0.3053	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.76189	-0.3050	9	.	.	.	.	15.3398	0.74287	0.0:0.0:1.0:0.0	.	131	P41587	VIPR2_HUMAN	K	131;115;272	ENSP00000262178:T131K;ENSP00000366860:T115K;ENSP00000384497:T272K	.	T	-	2	0	VIPR2	158543996	1.000000	0.71417	0.999000	0.59377	0.836000	0.47400	5.018000	0.64054	2.694000	0.91930	0.651000	0.88453	ACA		0.413	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1		NM_003382		27	58	1	0	2.19489e-29	0.00623	2.55559e-29	27	58		
PTK2B	2185	broad.mit.edu	37	8	27277583	27277583	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:27277583G>A	ENST00000397501.1	+	8	1184	c.376G>A	c.(376-378)Gag>Aag	p.E126K	PTK2B_ENST00000517339.1_Missense_Mutation_p.E126K|PTK2B_ENST00000544172.1_Missense_Mutation_p.E126K|PTK2B_ENST00000346049.5_Missense_Mutation_p.E126K|PTK2B_ENST00000338238.4_Missense_Mutation_p.E126K|PTK2B_ENST00000420218.2_Missense_Mutation_p.E126K	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	126	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CGTGGAAGCCGAGTGGAGGTA	0.582																																						uc003xfn.1		NaN																	0				lung(3)|ovary(1)|skin(1)	5						c.(376-378)GAG>AAG		PTK2B protein tyrosine kinase 2 beta isoform a							88.0	78.0	81.0					8																	27277583		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27277583G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.376G>A	8.37:g.27277583G>A	ENSP00000380638:p.Glu126Lys					PTK2B_uc003xfo.1_Missense_Mutation_p.E126K|PTK2B_uc003xfp.1_Missense_Mutation_p.E126K|PTK2B_uc003xfq.1_Missense_Mutation_p.E126K	p.E126K	NM_173174	NP_775266	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	8	1184	+		Ovarian(32;2.72e-05)	126			FERM.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.376G>A	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	35	5.443927	0.96187	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000522517;ENST00000412793;ENST00000517339	T;T;T;T;T;T	0.75154	-0.91;-0.87;-0.91;-0.91;-0.87;-0.87	5.02	5.02	0.67125	Band 4.1 domain (1);FERM domain (1);	0.115936	0.64402	D	0.000019	T	0.69441	0.3111	L	0.51422	1.61	0.80722	D	1	P;P	0.42456	0.583;0.78	B;B	0.40256	0.164;0.324	T	0.72398	-0.4306	10	0.49607	T	0.09	.	13.7114	0.62670	0.0:0.0:1.0:0.0	.	126;126	Q14289-2;Q14289	.;FAK2_HUMAN	K	126;131;126;126;126;126;126;126;126	ENSP00000380638:E126K;ENSP00000342242:E126K;ENSP00000440926:E126K;ENSP00000332816:E126K;ENSP00000391995:E126K;ENSP00000427931:E126K	ENSP00000342242:E126K	E	+	1	0	PTK2B	27333500	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	9.031000	0.93731	2.608000	0.88229	0.462000	0.41574	GAG		0.582	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1		NM_004103		29	26	0	0	0	0.00623	0	29	26		
ANK1	286	broad.mit.edu	37	8	41525865	41525865	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:41525865G>T	ENST00000347528.4	-	39	5397	c.5314C>A	c.(5314-5316)Cag>Aag	p.Q1772K	ANK1_ENST00000396942.1_Missense_Mutation_p.Q1772K|ANK1_ENST00000289734.7_Missense_Mutation_p.Q1772K|ANK1_ENST00000352337.4_Missense_Mutation_p.Q1772K|ANK1_ENST00000396945.1_Missense_Mutation_p.Q1772K|ANK1_ENST00000379758.2_Missense_Mutation_p.Q1772K|ANK1_ENST00000265709.8_Missense_Mutation_p.Q1813K|RP11-930P14.1_ENST00000522388.1_RNA	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1772	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGTCGGCCTGGGAGCTCTCA	0.617																																						uc003xok.2		NaN																	0				ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(5314-5316)CAG>AAG		ankyrin 1 isoform 1							113.0	90.0	98.0					8																	41525865		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41525865G>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5314C>A	8.37:g.41525865G>T	ENSP00000339620:p.Gln1772Lys					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.Q926K|ANK1_uc003xoi.2_Missense_Mutation_p.Q1772K|ANK1_uc003xoj.2_Missense_Mutation_p.Q1772K|ANK1_uc003xol.2_Missense_Mutation_p.Q1610K|ANK1_uc003xom.2_Missense_Mutation_p.Q1813K	p.Q1772K	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		39	5398	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1772			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5314C>A	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.156|0.156	-1.085808|-1.085808	0.01873|0.01873	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	.|T;T;T;T;T;T;T	.|0.62788	.|0.0;0.0;0.02;0.05;0.03;0.06;-0.0	3.32|3.32	2.38|2.38	0.29361|0.29361	.|.	.|0.837748	.|0.10416	.|N	.|0.677304	T|T	0.36331|0.36331	0.0963|0.0963	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.04013	.|0.001;0.0;0.0;0.0;0.0;0.0	T|T	0.29579|0.29579	-1.0007|-1.0007	5|10	.|0.02654	.|T	.|1	.|.	5.8228|5.8228	0.18536|0.18536	0.0:0.1808:0.4197:0.3995|0.0:0.1808:0.4197:0.3995	.|.	.|1813;1610;1772;1772;1772;926	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	Q|K	931|1772;1772;1772;1772;1772;1772;1813	.|ENSP00000339620:Q1772K;ENSP00000289734:Q1772K;ENSP00000369082:Q1772K;ENSP00000380149:Q1772K;ENSP00000380147:Q1772K;ENSP00000309131:Q1772K;ENSP00000265709:Q1813K	.|ENSP00000265709:Q1813K	P|Q	-|-	2|1	0|0	ANK1|ANK1	41645022|41645022	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.009000|0.009000	0.06853|0.06853	0.264000|0.264000	0.18497|0.18497	0.699000|0.699000	0.31761|0.31761	0.462000|0.462000	0.41574|0.41574	CCA|CAG		0.617	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1		NM_020475		29	22	1	0	1.61788e-16	0.012213	1.81094e-16	29	22		
PRKDC	5591	broad.mit.edu	37	8	48694764	48694764	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:48694764A>G	ENST00000314191.2	-	81	11501	c.11445T>C	c.(11443-11445)ctT>ctC	p.L3815L	PRKDC_ENST00000338368.3_Intron|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3816	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGGTGTTCAAAAGAAGGTCCT	0.502								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NaN																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(11446-11448)CTT>CTC	NHEJ	protein kinase, DNA-activated, catalytic							74.0	76.0	76.0					8																	48694764		1947	4121	6068	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48694764A>G		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11445T>C	8.37:g.48694764A>G						PRKDC_uc003xqj.2_Intron|PRKDC_uc011ldh.1_Intron	p.L3816L	NM_006904	NP_008835	P78527	PRKDC_HUMAN			81	11505	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3816			PI3K/PI4K.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.11448T>C																																																																																					0.502	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640		8	50	0	0	0	0.004482	0	8	50		
SLCO5A1	81796	broad.mit.edu	37	8	70744123	70744123	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:70744123G>T	ENST00000260126.4	-	2	1492	c.786C>A	c.(784-786)gtC>gtA	p.V262V	SLCO5A1_ENST00000530307.1_Silent_p.V262V|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.V262V|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000533300.1_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAGCCACGTAGACCCAGTGAT	0.542																																						uc003xyl.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(784-786)GTC>GTA		solute carrier organic anion transporter family,							87.0	90.0	89.0					8																	70744123		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744123G>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.786C>A	8.37:g.70744123G>T						SLCO5A1_uc010lzb.2_Silent_p.V262V|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.V262V|SLCO5A1_uc010lzc.2_Silent_p.V262V	p.V262V	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1493	-	Breast(64;0.0654)		262			Helical; Name=4; (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.786C>A	CCDS6205.1																																																																																				0.542	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3		NM_030958		40	16	1	0	1.05386e-31	0.00361	1.23568e-31	40	16		
TRPA1	8989	broad.mit.edu	37	8	72981302	72981302	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:72981302G>A	ENST00000262209.4	-	3	607	c.400C>T	c.(400-402)Cct>Tct	p.P134S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	134					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)	ATGTGGAGAGGAGCCATCATG	0.512																																						uc003xza.2		NaN																	0				ovary(4)|lung(1)|kidney(1)	6						c.(400-402)CCT>TCT		ankyrin-like protein 1	Menthol(DB00825)						232.0	245.0	240.0					8																	72981302		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72981302G>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.400C>T	8.37:g.72981302G>A	ENSP00000262209:p.Pro134Ser						p.P134S	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		3	575	-			134			Cytoplasmic (Potential).|ANK 3.		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.400C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581897	0.65992	.	.	ENSG00000104321	ENST00000262209	T	0.70986	-0.53	5.74	4.87	0.63330	Ankyrin repeat-containing domain (4);	0.047806	0.85682	D	0.000000	D	0.84361	0.5455	M	0.77820	2.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.86538	0.1826	10	0.66056	D	0.02	-12.1154	16.5902	0.84763	0.0:0.1403:0.8597:0.0	.	134	O75762	TRPA1_HUMAN	S	134	ENSP00000262209:P134S	ENSP00000262209:P134S	P	-	1	0	TRPA1	73143856	1.000000	0.71417	0.079000	0.20413	0.011000	0.07611	5.804000	0.69135	1.413000	0.46997	-0.211000	0.12701	CCT		0.512	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2		NM_007332		110	190	0	0	0	0.00361	0	110	190		
ZFHX4	79776	broad.mit.edu	37	8	77765656	77765656	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:77765656G>T	ENST00000521891.2	+	10	6947	c.6499G>T	c.(6499-6501)Ggc>Tgc	p.G2167C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2141C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2122C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2122C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAGAAATCTGGCCTCTCCCA	0.368										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(6364-6366)GGC>TGC		zinc finger homeodomain 4							73.0	71.0	72.0					8																	77765656		1835	4080	5915	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765656G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6499G>T	8.37:g.77765656G>T	ENSP00000430497:p.Gly2167Cys	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.G2167C|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2122C	p.G2122C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6751	+			2122			Homeobox 1.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.6364G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493645	0.44352	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	3.92	3.92	0.45320	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.45361	U	0.000367	D	0.94341	0.8181	M	0.78456	2.415	0.80722	D	1	P;P;P	0.37985	0.613;0.559;0.559	P;B;B	0.44696	0.458;0.329;0.329	D	0.94975	0.8120	10	0.52906	T	0.07	.	16.4682	0.84092	0.0:0.0:1.0:0.0	.	2122;2122;2167	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	2167;2151;2122;2122;2141	ENSP00000430497:G2167C;ENSP00000399605:G2122C;ENSP00000050961:G2122C;ENSP00000430848:G2141C	ENSP00000050961:G2122C	G	+	1	0	ZFHX4	77928211	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.531000	0.81973	2.200000	0.70718	0.455000	0.32223	GGC		0.368	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		19	17	1	0	4.96729e-08	0.008871	5.20979e-08	19	17		
RUNX1T1	862	broad.mit.edu	37	8	93004034	93004034	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:93004034C>A	ENST00000523629.1	-	7	1278	c.824G>T	c.(823-825)cGg>cTg	p.R275L	RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R238L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R238L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R248L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R286L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R248L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R238L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R275L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	275					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R275L(1)|p.R238L(1)|p.R286L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGGACTGTACCGCTGGCCTGG	0.512																																						uc003yfd.2		NaN																	3	Substitution - Missense(3)		lung(3)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(823-825)CGG>CTG		acute myelogenous leukemia 1 translocation 1							196.0	160.0	172.0					8																	93004034		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93004034C>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.824G>T	8.37:g.93004034C>A	ENSP00000428543:p.Arg275Leu					RUNX1T1_uc003yfc.1_Missense_Mutation_p.R248L|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R238L|RUNX1T1_uc010mao.2_Missense_Mutation_p.R248L|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R286L|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R238L	p.R275L	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		6	908	-			275					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.824G>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233693	0.79688	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.35789	1.29;1.32;1.29;1.32;1.32;1.32;1.29;1.32	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.80183	2.485	0.80722	D	1	P;D;B	0.56968	0.458;0.978;0.211	B;P;B	0.60117	0.119;0.869;0.155	T	0.57213	-0.7850	10	0.39692	T	0.17	-17.1956	20.4745	0.99168	0.0:1.0:0.0:0.0	.	286;275;248	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	L	275;248;275;238;238;238;286;248	ENSP00000428543:R275L;ENSP00000379520:R248L;ENSP00000265814:R275L;ENSP00000353504:R238L;ENSP00000390137:R238L;ENSP00000428742:R238L;ENSP00000402257:R286L;ENSP00000430728:R248L	ENSP00000265814:R275L	R	-	2	0	RUNX1T1	93073210	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGG		0.512	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3		NM_004349, NM_175635		22	23	1	0	4.87955e-14	0.005443	5.37154e-14	22	23		
PKHD1L1	93035	broad.mit.edu	37	8	110410761	110410761	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:110410761C>G	ENST00000378402.5	+	12	1100	c.996C>G	c.(994-996)ctC>ctG	p.L332L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	332	IPT/TIG 3.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCATATTCTCAAAACTGTAT	0.303										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(994-996)CTC>CTG		fibrocystin L precursor							66.0	59.0	61.0					8																	110410761		1811	4069	5880	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110410761C>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.996C>G	8.37:g.110410761C>G		HNSCC(38;0.096)					p.L332L	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		12	1100	+			332			Extracellular (Potential).|IPT/TIG 3.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.996C>G	CCDS47911.1																																																																																				0.303	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		5	12	0	0	0	0.00308	0	5	12		
CSMD3	114788	broad.mit.edu	37	8	113299303	113299303	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:113299303T>C	ENST00000297405.5	-	58	9565	c.9321A>G	c.(9319-9321)ccA>ccG	p.P3107P	CSMD3_ENST00000343508.3_Silent_p.P3067P|CSMD3_ENST00000455883.2_Silent_p.P2938P|CSMD3_ENST00000352409.3_Silent_p.P3037P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3107	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTGCACTCTGGCTGCCTTC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9319-9321)CCA>CCG		CUB and Sushi multiple domains 3 isoform 1							147.0	131.0	136.0					8																	113299303		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113299303T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9321A>G	8.37:g.113299303T>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.P2309P|CSMD3_uc003ynt.2_Silent_p.P3067P|CSMD3_uc011lhx.1_Silent_p.P2938P	p.P3107P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			58	9480	-			3107			Extracellular (Potential).|Sushi 22.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9321A>G	CCDS6315.1																																																																																				0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		6	133	0	0	0	0.00308	0	6	133		
KCNK9	51305	broad.mit.edu	37	8	140715046	140715046	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:140715046G>A	ENST00000520439.1	-	1	253	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L	KCNK9_ENST00000303015.1_Silent_p.L64L	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	64					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	AGGATCACCAGCTCCAGCTGC	0.597																																						uc003yvf.1		NaN																	0				ovary(2)|lung(1)	3						c.(190-192)CTG>TTG		potassium channel, subfamily K, member 9							83.0	75.0	77.0					8																	140715046		2203	4300	6503	SO:0001819	synonymous_variant	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140715046G>A	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.190C>T	8.37:g.140715046G>A						KCNK9_uc003yvg.1_Silent_p.L64L	p.L64L	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		1	254	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	64			Extracellular (Potential).		Q2M290|Q540F2	Silent	SNP	ENST00000520439.1	37	c.190C>T	CCDS6377.1																																																																																				0.597	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1		NM_016601		21	27	0	0	0	0.00333	0	21	27		
CHRAC1	54108	broad.mit.edu	37	8	141524510	141524510	+	Missense_Mutation	SNP	G	G	T	rs143839289	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:141524510G>T	ENST00000220913.5	+	2	392	c.190G>T	c.(190-192)Ggc>Tgc	p.G64C	CHRAC1_ENST00000519533.1_Intron	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	64					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			CTACAGACACGGCAGTGGAAA	0.383													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18382	0.0		0.0	False		,,,				2504	0.0					uc003yvl.2		NaN																	0				ovary(1)	1						c.(190-192)GGC>TGC		chromatin accessibility complex 1		G	CYS/GLY	1,4405	2.1+/-5.4	0,1,2202	67.0	60.0	63.0		190	4.8	0.4	8	dbSNP_134	63	0,8600		0,0,4300	no	missense	CHRAC1	NM_017444.5	159	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	64/132	141524510	1,13005	2203	4300	6503	SO:0001583	missense	54108				chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding	g.chr8:141524510G>T	AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"""histone-fold protein CHRAC15"""	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.190G>T	8.37:g.141524510G>T	ENSP00000220913:p.Gly64Cys					CHRAC1_uc010mem.1_Intron	p.G64C	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.107)		2	388	+	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		64						Missense_Mutation	SNP	ENST00000220913.5	37	c.190G>T	CCDS6379.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078700	0.76528	2.27E-4	0.0	ENSG00000104472	ENST00000220913;ENST00000518971	T;T	0.43688	1.23;0.94	5.63	4.76	0.60689	Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66555	-0.5894	10	0.59425	D	0.04	-14.5919	14.1693	0.65497	0.073:0.0:0.927:0.0	.	64	Q9NRG0	CHRC1_HUMAN	C	64;51	ENSP00000220913:G64C;ENSP00000430484:G51C	ENSP00000220913:G64C	G	+	1	0	CHRAC1	141593692	1.000000	0.71417	0.434000	0.26772	0.991000	0.79684	6.683000	0.74533	1.377000	0.46286	0.655000	0.94253	GGC		0.383	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1		NM_017444		19	11	1	0	7.41945e-09	0.005443	7.8186e-09	19	11		
PTP4A3	11156	broad.mit.edu	37	8	142441037	142441037	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:142441037G>T	ENST00000521578.1	+	6	1360	c.415G>T	c.(415-417)Gga>Tga	p.G139*	PTP4A3_ENST00000520105.1_Nonsense_Mutation_p.G114*|PTP4A3_ENST00000524028.1_Nonsense_Mutation_p.G53*|MROH5_ENST00000430863.1_RNA|PTP4A3_ENST00000349124.1_Nonsense_Mutation_p.G114*|PTP4A3_ENST00000329397.1_Nonsense_Mutation_p.G139*			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	139	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GAAGCGCCGCGGAGCCATCAA	0.597																																						uc003ywg.1		NaN																	0					0						c.(415-417)GGA>TGA		protein tyrosine phosphatase type IVA, member 3							105.0	89.0	94.0					8																	142441037		2201	4299	6500	SO:0001587	stop_gained	11156					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:142441037G>T	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.415G>T	8.37:g.142441037G>T	ENSP00000428976:p.Gly139*					PTP4A3_uc003ywh.1_Nonsense_Mutation_p.G114*|PTP4A3_uc010met.1_Silent_p.A52A	p.G139*	NM_032611	NP_116000	O75365	TP4A3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0474)		5	749	+	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		139			Tyrosine-protein phosphatase.		Q8IVN5|Q99849|Q9BTW5	Nonsense_Mutation	SNP	ENST00000521578.1	37	c.415G>T	CCDS6383.1	.	.	.	.	.	.	.	.	.	.	G	38	7.036892	0.98017	.	.	ENSG00000184489	ENST00000521578;ENST00000520105;ENST00000329397;ENST00000349124;ENST00000524028	.	.	.	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.2394	16.2738	0.82634	0.0:0.0:1.0:0.0	.	.	.	.	X	139;114;139;114;53	.	ENSP00000332274:G139X	G	+	1	0	PTP4A3	142510219	1.000000	0.71417	0.838000	0.33150	0.745000	0.42441	9.383000	0.97214	2.506000	0.84524	0.555000	0.69702	GGA		0.597	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1		NM_032611		17	23	1	0	1.96292e-10	0.010504	2.10516e-10	17	23		
PPP1R16A	84988	broad.mit.edu	37	8	145727093	145727093	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:145727093C>T	ENST00000292539.4	+	11	2311	c.1394C>T	c.(1393-1395)gCt>gTt	p.A465V	GPT_ENST00000394955.2_5'Flank|GPT_ENST00000528431.1_5'Flank|CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.A465V|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	465						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGCGAGCTGCTGCCAAGCTG	0.692																																						uc003zdd.2		NaN																	0					0						c.(1393-1395)GCT>GTT		protein phosphatase 1, regulatory (inhibitor)							36.0	30.0	32.0					8																	145727093		2186	4288	6474	SO:0001583	missense	84988					plasma membrane	protein binding	g.chr8:145727093C>T		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1394C>T	8.37:g.145727093C>T	ENSP00000292539:p.Ala465Val					uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.A465V|GPT_uc011lli.1_5'Flank|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.3_5'Flank	p.A465V	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		11	2307	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		465					D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	c.1394C>T	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945088	0.73672	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.80304	-1.36;-1.36	4.48	3.59	0.41128	.	0.000000	0.85682	D	0.000000	D	0.85767	0.5773	M	0.74647	2.275	0.58432	D	0.999992	D	0.63880	0.993	P	0.57468	0.821	D	0.86142	0.1582	10	0.66056	D	0.02	.	11.4385	0.50083	0.1822:0.8178:0.0:0.0	.	465	Q96I34	PP16A_HUMAN	V	465	ENSP00000292539:A465V;ENSP00000391126:A465V	ENSP00000292539:A465V	A	+	2	0	PPP1R16A	145697901	0.978000	0.34361	0.189000	0.23252	0.602000	0.36980	2.587000	0.46128	0.837000	0.34925	0.462000	0.41574	GCT		0.692	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1		NM_032902		5	7	0	0	0	0.001984	0	5	7		
MPDZ	8777	broad.mit.edu	37	9	13107098	13107098	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:13107098C>T	ENST00000319217.7	-	47	6326	c.6079G>A	c.(6079-6081)Gaa>Aaa	p.E2027K	MPDZ_ENST00000541093.1_Missense_Mutation_p.E261K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E2027K|MPDZ_ENST00000381022.2_Missense_Mutation_p.E1998K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E2041K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E1998K|MPDZ_ENST00000447879.1_Missense_Mutation_p.E1994K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1965K|MPDZ_ENST00000538841.1_Missense_Mutation_p.E886K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2027	PDZ 13. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CGTCCGTCTTCAGAGGCTGCT	0.433																																						uc010mhy.2		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(5992-5994)GAA>AAA		multiple PDZ domain protein							141.0	136.0	138.0					9																	13107098		1906	4103	6009	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13107098C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.6079G>A	9.37:g.13107098C>T	ENSP00000320006:p.Glu2027Lys					MPDZ_uc003zkx.3_Missense_Mutation_p.E222K|MPDZ_uc003zky.3_Missense_Mutation_p.E561K|MPDZ_uc010mib.2_Missense_Mutation_p.E732K|MPDZ_uc010mhx.2_Missense_Mutation_p.E849K|MPDZ_uc011lmm.1_Missense_Mutation_p.E886K|MPDZ_uc003zkz.3_Missense_Mutation_p.E720K|MPDZ_uc010mhz.2_Missense_Mutation_p.E1994K|MPDZ_uc011lmn.1_Missense_Mutation_p.E1965K|MPDZ_uc003zlb.3_Missense_Mutation_p.E1998K	p.E1998K	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	45	6043	-			2027			PDZ 13.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.5992G>A		.	.	.	.	.	.	.	.	.	.	C	24.0	4.477254	0.84640	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82	5.52	5.52	0.82312	PDZ/DHR/GLGF (4);	0.000000	0.43110	D	0.000614	T	0.29652	0.0740	N	0.04959	-0.14	0.58432	D	0.999999	D;D;P;D;D;D;D;P	0.89917	1.0;0.974;0.87;0.999;0.999;0.999;0.989;0.952	D;P;P;D;D;D;D;D	0.91635	0.999;0.879;0.673;0.995;0.996;0.995;0.95;0.909	T	0.23833	-1.0177	10	0.12103	T	0.63	.	19.0483	0.93030	0.0:1.0:0.0:0.0	.	1965;886;732;1994;1907;1998;2027;720	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	K	2027;1998;1998;568;261;963;886;1965;1994;2027;1907;2041	ENSP00000320006:E2027K;ENSP00000439807:E1998K;ENSP00000370410:E1998K;ENSP00000415964:E568K;ENSP00000445259:E261K;ENSP00000444230:E963K;ENSP00000444717:E886K;ENSP00000444151:E1965K;ENSP00000415208:E1994K;ENSP00000370403:E2027K;ENSP00000446358:E2041K	ENSP00000320006:E2027K	E	-	1	0	MPDZ	13097098	1.000000	0.71417	0.954000	0.39281	0.821000	0.46438	7.463000	0.80869	2.606000	0.88127	0.563000	0.77884	GAA		0.433	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2		NM_003829		21	90	0	0	0	0.003954	0	21	90		
CER1	9350	broad.mit.edu	37	9	14720287	14720287	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:14720287G>T	ENST00000380911.3	-	2	649	c.605C>A	c.(604-606)tCc>tAc	p.S202Y		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	202	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GGAGGTATGGGAGTGCTGCGC	0.502																																						uc003zlj.2		NaN																	0					0						c.(604-606)TCC>TAC		cerberus 1 precursor							122.0	99.0	107.0					9																	14720287		2203	4300	6503	SO:0001583	missense	9350				BMP signaling pathway	extracellular space	cytokine activity	g.chr9:14720287G>T	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.605C>A	9.37:g.14720287G>T	ENSP00000370297:p.Ser202Tyr						p.S202Y	NM_005454	NP_005445	O95813	CER1_HUMAN		GBM - Glioblastoma multiforme(50;3.16e-06)	2	650	-			202			CTCK.		Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Missense_Mutation	SNP	ENST00000380911.3	37	c.605C>A	CCDS6476.1	.	.	.	.	.	.	.	.	.	.	G	4.009	-0.000959	0.07819	.	.	ENSG00000147869	ENST00000380911	T	0.33654	1.4	5.52	-0.134	0.13481	DAN (1);Cystine knot, C-terminal (2);	1.476590	0.03670	N	0.243768	T	0.24547	0.0595	L	0.34521	1.04	0.09310	N	1	B	0.32245	0.361	B	0.31016	0.123	T	0.26950	-1.0088	10	0.54805	T	0.06	1.0E-4	0.0898	0.00038	0.2984:0.2428:0.2015:0.2573	.	202	O95813	CER1_HUMAN	Y	202	ENSP00000370297:S202Y	ENSP00000370297:S202Y	S	-	2	0	CER1	14710287	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.485000	0.22324	0.309000	0.22966	0.655000	0.94253	TCC		0.502	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1		NM_005454		25	98	1	0	1.80694e-10	0.009535	1.94101e-10	25	98		
TOPORS	10210	broad.mit.edu	37	9	32544067	32544067	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:32544067C>T	ENST00000360538.2	-	3	572	c.456G>A	c.(454-456)gtG>gtA	p.V152V	TOPORS_ENST00000379858.1_Silent_p.V87V	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	152	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CTTCTGCCCTCACAGAATGGA	0.428																																						uc003zrb.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(454-456)GTG>GTA		topoisomerase I binding, arginine/serine-rich							147.0	128.0	135.0					9																	32544067		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32544067C>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.456G>A	9.37:g.32544067C>T						TOPORS_uc003zrc.2_Silent_p.V85V	p.V152V	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	623	-			152			E3 ubiquitin-protein ligase activity.|Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.456G>A	CCDS6527.1																																																																																				0.428	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1		NM_005802		22	72	0	0	0	0.00333	0	22	72		
DNAI1	27019	broad.mit.edu	37	9	34514538	34514538	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:34514538C>G	ENST00000242317.4	+	17	1887	c.1716C>G	c.(1714-1716)atC>atG	p.I572M		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	572					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		ACCACACCATCAAGTGAGGGG	0.597									Kartagener syndrome																													uc003zum.2		NaN																	0					0						c.(1714-1716)ATC>ATG		dynein, axonemal, intermediate chain 1							109.0	105.0	106.0					9																	34514538		2203	4300	6503	SO:0001583	missense	27019	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34514538C>G	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1716C>G	9.37:g.34514538C>G	ENSP00000242317:p.Ile572Met						p.I572M	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	17	1909	+	all_epithelial(49;0.244)		572			WD 3.		B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.1716C>G	CCDS6557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.79|11.79	1.744942|1.744942	0.30865|0.30865	.|.	.|.	ENSG00000122735|ENSG00000122735	ENST00000379040;ENST00000242317|ENST00000442556	T|.	0.70045|.	-0.45|.	5.57|5.57	4.62|4.62	0.57501|0.57501	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.170964|.	0.49305|.	D|.	0.000145|.	T|.	0.56140|.	0.1965|.	L|L	0.38838|0.38838	1.175|1.175	0.80722|0.80722	D|D	1|1	B|.	0.14805|.	0.011|.	B|.	0.23275|.	0.045|.	T|.	0.50792|.	-0.8786|.	10|.	0.33940|.	T|.	0.23|.	.|.	12.9304|12.9304	0.58284|0.58284	0.1628:0.8371:0.0:0.0|0.1628:0.8371:0.0:0.0	.|.	572|.	Q9UI46|.	DNAI1_HUMAN|.	M|X	128;572|76	ENSP00000242317:I572M|.	ENSP00000242317:I572M|.	I|S	+|+	3|2	3|0	DNAI1|DNAI1	34504538|34504538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	1.725000|1.725000	0.38074|0.38074	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	ATC|TCA		0.597	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1				56	42	0	0	0	0.00361	0	56	42		
PIGO	84720	broad.mit.edu	37	9	35090170	35090170	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:35090170C>G	ENST00000378617.3	-	9	3356	c.2962G>C	c.(2962-2964)Gag>Cag	p.E988Q	PIGO_ENST00000298004.5_Missense_Mutation_p.E571Q|PIGO_ENST00000341666.3_Missense_Mutation_p.E988Q|PIGO_ENST00000361778.2_Missense_Mutation_p.E571Q	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	988					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)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCTCTTCCTCCTCGGGTCTG	0.597																																						uc003zwd.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(2962-2964)GAG>CAG		phosphatidylinositol glycan anchor biosynthesis,							78.0	71.0	73.0					9																	35090170		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35090170C>G	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2962G>C	9.37:g.35090170C>G	ENSP00000367880:p.Glu988Gln					PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Missense_Mutation_p.E571Q|PIGO_uc003zwf.2_Missense_Mutation_p.E571Q|PIGO_uc003zwg.1_3'UTR	p.E988Q	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		9	3358	-			988					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.2962G>C	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	9.520	1.107997	0.20714	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.26	4.28	0.50868	.	0.169050	0.42294	D	0.000731	T	0.68054	0.2959	L	0.51422	1.61	0.20403	N	0.999907	P;B	0.46142	0.873;0.22	B;B	0.42282	0.382;0.094	T	0.58814	-0.7570	10	0.14656	T	0.56	-15.1759	8.2296	0.31590	0.0:0.8266:0.0:0.1734	.	571;988	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	Q	571;988;988;571	ENSP00000298004:E571Q;ENSP00000367880:E988Q;ENSP00000339382:E988Q;ENSP00000354678:E571Q	ENSP00000298004:E571Q	E	-	1	0	PIGO	35080170	0.999000	0.42202	1.000000	0.80357	0.412000	0.31113	2.568000	0.45965	2.731000	0.93534	0.655000	0.94253	GAG		0.597	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1		NM_032634		13	53	0	0	0	0.001368	0	13	53		
NPR2	4882	broad.mit.edu	37	9	35792645	35792645	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:35792645A>G	ENST00000342694.2	+	1	495	c.240A>G	c.(238-240)gcA>gcG	p.A80A		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	80					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGTACCTGGCACCGCTGAGCG	0.657																																						uc003zyd.2		NaN																	0				ovary(2)|stomach(1)	3						c.(238-240)GCA>GCG		natriuretic peptide receptor B precursor	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						98.0	90.0	93.0					9																	35792645		2203	4300	6503	SO:0001819	synonymous_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35792645A>G	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.240A>G	9.37:g.35792645A>G						NPR2_uc010mlb.2_Silent_p.A80A	p.A80A	NM_003995	NP_003986	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		1	240	+	all_epithelial(49;0.161)		80			Extracellular (Potential).		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	c.240A>G	CCDS6590.1																																																																																				0.657	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1				16	105	0	0	0	0.008871	0	16	105		
FRMPD1	22844	broad.mit.edu	37	9	37745551	37745551	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:37745551A>T	ENST00000539465.1	+	16	4115	c.3522A>T	c.(3520-3522)ccA>ccT	p.P1174P	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.P1174P			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1174						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGCAGATCCCACCACATCCCC	0.478																																						uc004aag.1		NaN																	0				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(3520-3522)CCA>CCT		FERM and PDZ domain containing 1							50.0	52.0	51.0					9																	37745551		2203	4300	6503	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745551A>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3522A>T	9.37:g.37745551A>T						FRMPD1_uc004aah.1_Silent_p.P1174P	p.P1174P	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	3566	+			1174					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.3522A>T	CCDS6612.1																																																																																				0.478	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1		NM_014907		6	25	0	0	0	0.001168	0	6	25		
SPATA31A6	389730	broad.mit.edu	37	9	43627203	43627203	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:43627203G>T	ENST00000332857.6	-	4	1512	c.1484C>A	c.(1483-1485)gCt>gAt	p.A495D	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	495					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATGGGCCTGAGCCTCGGCCTG	0.542																																						uc011lrb.1		NaN																	0					0						c.(1483-1485)GCT>GAT		hypothetical protein LOC389730							68.0	74.0	73.0					9																	43627203		612	1534	2146	SO:0001583	missense	389730					integral to membrane		g.chr9:43627203G>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1484C>A	9.37:g.43627203G>T	ENSP00000329825:p.Ala495Asp						p.A495D	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	1513	-			495						Missense_Mutation	SNP	ENST00000332857.6	37	c.1484C>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	4.553	0.102736	0.08731	.	.	ENSG00000185775	ENST00000332857	T	0.06933	3.24	2.33	-0.689	0.11313	.	1.116930	0.06803	N	0.788990	T	0.06050	0.0157	L	0.40543	1.245	0.09310	N	1	B	0.18310	0.027	B	0.15052	0.012	T	0.45934	-0.9227	10	0.13108	T	0.6	-0.8241	2.8843	0.05657	0.3104:0.244:0.4456:0.0	.	495	Q5VVP1	F75A6_HUMAN	D	495	ENSP00000329825:A495D	ENSP00000329825:A495D	A	-	2	0	FAM75A6	43567199	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.552000	0.23376	-0.172000	0.10779	-0.554000	0.04202	GCT		0.542	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1		NM_001145196		277	449	1	0	1.06012e-137	0.00361	1.27214e-137	277	449		
PTAR1	375743	broad.mit.edu	37	9	72333393	72333393	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:72333393C>A	ENST00000340434.4	-	8	1077	c.1074G>T	c.(1072-1074)cgG>cgT	p.R358R	PTAR1_ENST00000377200.5_Silent_p.R306R	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	358					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GAACTGGCGTCCGCTTCAGGC	0.522																																						uc004ahj.3		NaN																	0				central_nervous_system(1)	1						c.(1072-1074)CGG>CGT		protein prenyltransferase alpha subunit repeat							116.0	116.0	116.0					9																	72333393		1950	4153	6103	SO:0001819	synonymous_variant	375743				protein prenylation		protein prenyltransferase activity	g.chr9:72333393C>A	BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.1074G>T	9.37:g.72333393C>A						PTAR1_uc004ahi.2_Silent_p.R306R	p.R358R	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN			8	1096	-			358					Q5T7V5|Q5T7V6	Silent	SNP	ENST00000340434.4	37	c.1074G>T	CCDS47978.1	.	.	.	.	.	.	.	.	.	.	C	8.684	0.905779	0.17760	.	.	ENSG00000188647	ENST00000415701	.	.	.	6.02	5.13	0.70059	.	.	.	.	.	T	0.59514	0.2199	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58301	-0.7660	4	.	.	.	-9.3309	8.3808	0.32470	0.2497:0.6741:0.0:0.0762	.	.	.	.	Y	124	.	.	D	-	1	0	PTAR1	71523213	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.533000	0.36040	1.562000	0.49601	0.655000	0.94253	GAC		0.522	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4		NM_001099666		19	20	1	0	2.39556e-15	0.00278	2.65908e-15	19	20		
GNA14	9630	broad.mit.edu	37	9	80043925	80043925	+	Silent	SNP	C	C	T	rs371304229		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:80043925C>T	ENST00000341700.6	-	5	1134	c.621G>A	c.(619-621)tcG>tcA	p.S207S	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	207					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TCCGTCTTTCCGATCGTTGGC	0.453													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20098	0.0		0.0	False		,,,				2504	0.0					uc004aku.2		NaN																	0				ovary(2)	2						c.(619-621)TCG>TCA		G alpha 14		T		1,4405	4.2+/-10.8	0,1,2202	191.0	180.0	184.0		621	-7.8	0.9	9		184	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GNA14	NM_004297.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		207/356	80043925	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80043925C>T	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.621G>A	9.37:g.80043925C>T							p.S207S	NM_004297	NP_004288	O95837	GNA14_HUMAN			5	1144	-			207					B1ALW3	Silent	SNP	ENST00000341700.6	37	c.621G>A	CCDS6657.1																																																																																				0.453	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1				112	71	0	0	0	0.00361	0	112	71		
TLE1	7088	broad.mit.edu	37	9	84230944	84230944	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:84230944C>T	ENST00000376499.3	-	11	1935	c.871G>A	c.(871-873)Gcc>Acc	p.A291T	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376484.1_5'Flank|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	291	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCGAGGAGGCCGTGGAAGCT	0.488																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	uc004aly.2		NaN																	0				ovary(1)|skin(1)	2						c.(871-873)GCC>ACC		transducin-like enhancer protein 1							101.0	99.0	99.0					9																	84230944		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84230944C>T		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.871G>A	9.37:g.84230944C>T	ENSP00000365682:p.Ala291Thr					TLE1_uc004alz.2_Missense_Mutation_p.A301T|TLE1_uc011lsr.1_Missense_Mutation_p.A291T|TLE1_uc004ama.1_Missense_Mutation_p.A291T|TLE1_uc011lss.1_Missense_Mutation_p.A217T	p.A291T	NM_005077	NP_005068	Q04724	TLE1_HUMAN			11	1312	-			291			Pro/Ser-rich.		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.871G>A	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497608	0.44455	.	.	ENSG00000196781	ENST00000376499	T	0.42900	0.96	5.41	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	L	0.51914	1.62	0.80722	D	1	P;B;P;P	0.49559	0.924;0.435;0.925;0.621	P;B;P;B	0.60682	0.878;0.211;0.793;0.271	T	0.61836	-0.6981	10	0.87932	D	0	-17.3982	16.4589	0.84030	0.0:0.8691:0.1309:0.0	.	217;291;318;291	B4E345;B4DEF9;Q59EF7;Q04724	.;.;.;TLE1_HUMAN	T	291	ENSP00000365682:A291T	ENSP00000365682:A291T	A	-	1	0	TLE1	83420764	1.000000	0.71417	0.887000	0.34795	0.390000	0.30446	5.904000	0.69886	1.498000	0.48600	0.655000	0.94253	GCC		0.488	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1		NM_005077		32	16	0	0	0	0.004289	0	32	16		
KIF27	55582	broad.mit.edu	37	9	86518142	86518142	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:86518142G>A	ENST00000297814.2	-	4	1434	c.1291C>T	c.(1291-1293)Cta>Tta	p.L431L	KIF27_ENST00000413982.1_Silent_p.L431L|KIF27_ENST00000334204.2_Silent_p.L431L	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	431					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTTTCGTTTAGTCTGACAGTA	0.473																																						uc004ana.2		NaN																	0				lung(4)|skin(1)	5						c.(1291-1293)CTA>TTA		kinesin family member 27							187.0	167.0	174.0					9																	86518142		2203	4300	6503	SO:0001819	synonymous_variant	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518142G>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1291C>T	9.37:g.86518142G>A						KIF27_uc010mpw.2_Silent_p.L431L|KIF27_uc010mpx.2_Silent_p.L431L	p.L431L	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			4	1435	-			431					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	ENST00000297814.2	37	c.1291C>T	CCDS6665.1																																																																																				0.473	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1		NM_017576		10	21	0	0	0	0.001368	0	10	21		
DAPK1	1612	broad.mit.edu	37	9	90266558	90266558	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:90266558C>T	ENST00000408954.3	+	17	2078	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	DAPK1_ENST00000469640.2_Silent_p.L581L|DAPK1_ENST00000358077.5_Silent_p.L581L|DAPK1_ENST00000491893.1_Silent_p.L581L|DAPK1_ENST00000472284.1_Silent_p.L581L	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	581					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ATACTCCCCTCCATGTGGCAT	0.493									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2		NaN																	0				ovary(1)|breast(1)	2						c.(1741-1743)CTC>CTT		death-associated protein kinase 1							155.0	155.0	155.0					9																	90266558		2072	4212	6284	SO:0001819	synonymous_variant	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90266558C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1743C>T	9.37:g.90266558C>T						DAPK1_uc004apd.2_Silent_p.L581L|DAPK1_uc011ltg.1_Silent_p.L581L|DAPK1_uc011lth.1_Silent_p.L318L|DAPK1_uc004apf.1_Silent_p.L135L	p.L581L	NM_004938	NP_004929	P53355	DAPK1_HUMAN			17	1881	+			581			ANK 7.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.1743C>T	CCDS43842.1																																																																																				0.493	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1		NM_004938		4	66	0	0	0	0.000602	0	4	66		
SPATA31C1	441452	broad.mit.edu	37	9	90536698	90536698	+	RNA	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:90536698G>A	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGCAATCTAGCAGCCCCGAA	0.537																																						uc010mqi.2		NaN																	0					0						c.(1876-1878)GCA>ACA		family with sequence similarity 75, member C1							59.0	50.0	53.0					9																	90536698		692	1591	2283			441452							g.chr9:90536698G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536698G>A						FAM75C1_uc004apq.3_Missense_Mutation_p.A609T	p.A626T	NM_001145124	NP_001138596					4	1905	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.1876G>A																																																																																					0.537	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1		NM_001145124		29	62	0	0	0	0.002836	0	29	62		
NCBP1	4686	broad.mit.edu	37	9	100433475	100433475	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:100433475G>A	ENST00000375147.3	+	23	2623	c.2367G>A	c.(2365-2367)caG>caA	p.Q789Q		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	789					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				GTGCCCTGCAGGCCTAAGGGT	0.393																																					Ovarian(36;879 898 2893 44212 50307)	uc004axq.2		NaN																	0				central_nervous_system(1)	1						c.(2365-2367)CAG>CAA		nuclear cap binding protein subunit 1, 80kDa							117.0	103.0	108.0					9																	100433475		2203	4300	6503	SO:0001819	synonymous_variant	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100433475G>A	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.2367G>A	9.37:g.100433475G>A							p.Q789Q	NM_002486	NP_002477	Q09161	NCBP1_HUMAN			23	2826	+		Acute lymphoblastic leukemia(62;0.158)	789					B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	c.2367G>A	CCDS6728.1																																																																																				0.393	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1		NM_002486		10	26	0	0	0	0.010729	0	10	26		
FKBP15	23307	broad.mit.edu	37	9	115931551	115931551	+	Silent	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:115931551T>A	ENST00000238256.3	-	26	3555	c.3438A>T	c.(3436-3438)acA>acT	p.T1146T		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1146					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTCCTGCAACTGTGGAACCTG	0.562																																						uc004bgs.2		NaN																	0				ovary(3)	3						c.(3436-3438)ACA>ACT		FK506 binding protein 15, 133kDa							66.0	72.0	70.0					9																	115931551		2128	4239	6367	SO:0001819	synonymous_variant	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115931551T>A	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3438A>T	9.37:g.115931551T>A						FKBP15_uc004bgr.2_Silent_p.T583T|FKBP15_uc011lxc.1_Silent_p.T727T|FKBP15_uc011lxd.1_Silent_p.T1078T	p.T1146T	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN			26	3556	-			1146					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	37	c.3438A>T	CCDS48007.1																																																																																				0.562	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_015258		11	32	0	0	0	0.003163	0	11	32		
RPL35	11224	broad.mit.edu	37	9	127623766	127623766	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:127623766C>T	ENST00000348462.3	-	2	120	c.72G>A	c.(70-72)ctG>ctA	p.L24L	RPL35_ENST00000373570.4_Silent_p.L24L|ARPC5L_ENST00000353214.2_5'Flank	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	24					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GCTCCACCTTCAGGTCGTCCA	0.612																																						uc004boy.1		NaN																	0				ovary(1)	1						c.(70-72)CTG>CTA		ribosomal protein L35							59.0	57.0	57.0					9																	127623766		2203	4300	6503	SO:0001819	synonymous_variant	11224				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome	g.chr9:127623766C>T	U12465	CCDS6858.1	9q34.1	2011-04-06			ENSG00000136942	ENSG00000136942		"""L ribosomal proteins"""	10344	protein-coding gene	gene with protein product	"""60S ribosomal protein L35"""					11401437	Standard	NM_007209		Approved	L35	uc004boy.1	P42766	OTTHUMG00000020659	ENST00000348462.3:c.72G>A	9.37:g.127623766C>T						ARPC5L_uc004boz.1_5'Flank	p.L24L	NM_007209	NP_009140	P42766	RL35_HUMAN		GBM - Glioblastoma multiforme(294;0.182)	2	121	-			24					A8K4V7|Q4VBY5|Q5JTN5|Q6IBC7|Q96QJ7|Q9BYF4	Silent	SNP	ENST00000348462.3	37	c.72G>A	CCDS6858.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.847085	0.32606	.	.	ENSG00000136942	ENST00000373570	.	.	.	5.41	2.42	0.29668	.	.	.	.	.	T	0.60051	0.2239	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56001	-0.8051	4	.	.	.	.	11.0471	0.47865	0.0:0.4288:0.4947:0.0765	.	.	.	.	K	24	.	.	E	-	1	0	RPL35	126663587	0.990000	0.36364	1.000000	0.80357	0.917000	0.54804	0.318000	0.19504	0.706000	0.31912	-0.176000	0.13171	GAA		0.612	RPL35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054035.1		NM_007209		44	10	0	0	0	0.00361	0	44	10		
BARHL1	56751	broad.mit.edu	37	9	135458598	135458598	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:135458598A>G	ENST00000263610.2	+	1	1027	c.414A>G	c.(412-414)agA>agG	p.R138R	BARHL1_ENST00000542090.1_Silent_p.R138R	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	138					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	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)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		AGGACTTTAGAGACAAGCTGG	0.582																																						uc004cbp.1		NaN																	0					0						c.(412-414)AGA>AGG		BarH-like homeobox 1							24.0	30.0	28.0					9																	135458598		2179	4288	6467	SO:0001819	synonymous_variant	56751					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:135458598A>G	AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"""Homeoboxes / ANTP class : NKL subclass"""	953	protein-coding gene	gene with protein product		605211	"""BarH (Drosophila)-like 1"""				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.414A>G	9.37:g.135458598A>G							p.R138R	NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)	1	606	+			138					Q5T6V2|Q9NY88	Silent	SNP	ENST00000263610.2	37	c.414A>G	CCDS6950.1																																																																																				0.582	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2				15	2	0	0	0	0.004007	0	15	2		
COL5A1	1289	broad.mit.edu	37	9	137687131	137687131	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:137687131C>G	ENST00000371817.3	+	34	3183	c.2769C>G	c.(2767-2769)ccC>ccG	p.P923P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	923	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)			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)		AAAGAGGCCCCCGGGGCATCA	0.632																																						uc004cfe.2		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(2767-2769)CCC>CCG		alpha 1 type V collagen preproprotein							72.0	78.0	76.0					9																	137687131		2203	4300	6503	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.chr9:137687131C>G	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.2769C>G	9.37:g.137687131C>G							p.P923P	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)	34	3151	+		Myeloproliferative disorder(178;0.0341)	923			Triple-helical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.2769C>G	CCDS6982.1																																																																																				0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		NM_000093		12	63	0	0	0	0.003163	0	12	63		
KCNT1	57582	broad.mit.edu	37	9	138675901	138675901	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:138675901T>A	ENST00000263604.3	+	25	2816	c.2816T>A	c.(2815-2817)tTc>tAc	p.F939Y	KCNT1_ENST00000371757.2_Missense_Mutation_p.F958Y|KCNT1_ENST00000487664.1_Missense_Mutation_p.F913Y|KCNT1_ENST00000298480.5_Missense_Mutation_p.F958Y|KCNT1_ENST00000486577.2_Missense_Mutation_p.F917Y|KCNT1_ENST00000488444.2_Missense_Mutation_p.F939Y|KCNT1_ENST00000490355.2_Missense_Mutation_p.F937Y|KCNT1_ENST00000491806.2_Missense_Mutation_p.F925Y			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	939					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AACCTGGCCTTCATGTTCCGC	0.662																																						uc011mdq.1		NaN																	0				large_intestine(2)|ovary(1)|pancreas(1)	4						c.(2872-2874)TTC>TAC		potassium channel, subfamily T, member 1							74.0	59.0	64.0					9																	138675901		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138675901T>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2816T>A	9.37:g.138675901T>A	ENSP00000263604:p.Phe939Tyr					KCNT1_uc011mdr.1_Missense_Mutation_p.F785Y|KCNT1_uc010nbf.2_Missense_Mutation_p.F913Y|KCNT1_uc004cgo.1_Missense_Mutation_p.F707Y	p.F958Y	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	25	2947	+		Myeloproliferative disorder(178;0.0821)	958					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.2873T>A		.	.	.	.	.	.	.	.	.	.	T	11.87	1.766520	0.31228	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	4.46	4.46	0.54185	.	0.120340	0.56097	U	0.000031	T	0.47432	0.1445	N	0.04387	-0.21	0.50039	D	0.999842	B;B;B;B	0.21520	0.005;0.009;0.057;0.012	B;B;B;B	0.24701	0.015;0.016;0.055;0.015	T	0.41963	-0.9479	10	0.15499	T	0.54	-24.5288	12.9945	0.58638	0.0:0.0:0.0:1.0	.	925;958;913;939	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	Y	913;958;958;917;925;939;937;939	ENSP00000417851:F913Y;ENSP00000298480:F958Y;ENSP00000360822:F958Y;ENSP00000263604:F939Y	ENSP00000263604:F939Y	F	+	2	0	KCNT1	137815722	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.920000	0.70017	1.773000	0.52216	0.459000	0.35465	TTC		0.662	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_020822		67	23	0	0	0	0.00361	0	67	23		
AKAP17A	8227	broad.mit.edu	37	X	1719725	1719725	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:1719725G>T	ENST00000313871.3	+	5	1522	c.1326G>T	c.(1324-1326)ctG>ctT	p.L442L		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	442	PKA-RI-alpha subunit binding domain.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGAGCATCCTGCTGAGCAAGA	0.692																																						uc004cqa.2		NaN																	0					0						c.(1324-1326)CTG>CTT		DNA segment on chromosome X and Y (unique) 155							18.0	19.0	19.0					X																	1719725		2153	4216	6369	SO:0001819	synonymous_variant	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1719725G>T	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1326G>T	X.37:g.1719725G>T						SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	p.L442L	NM_005088	NP_005079	Q02040	AK17A_HUMAN			5	1522	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	442			PKA-RI-alpha subunit binding domain.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP	ENST00000313871.3	37	c.1326G>T	CCDS14116.1																																																																																				0.692	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2		NM_005088		5	8	1	0	3.86212e-05	0.008291	3.96328e-05	5	8		
ZBED1	9189	broad.mit.edu	37	X	2407722	2407722	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:2407722C>T	ENST00000381223.4	-	2	1242	c.1039G>A	c.(1039-1041)Gtg>Atg	p.V347M	ZBED1_ENST00000381218.3_Missense_Mutation_p.V347M|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.V347M|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	347					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGTTGCTCACCAGCATGCAG	0.617																																						uc004cqg.2		NaN																	0					0						c.(1039-1041)GTG>ATG		zinc finger, BED-type containing 1							65.0	50.0	55.0					X																	2407722		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407722C>T	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1039G>A	X.37:g.2407722C>T	ENSP00000370621:p.Val347Met					DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.V347M	p.V347M	NM_004729	NP_004720	O96006	ZBED1_HUMAN			2	1240	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	347					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.1039G>A	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263132	0.23051	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.22945	1.93;1.93;1.93	3.06	3.06	0.35304	Ribonuclease H-like (1);	0.295570	0.26334	N	0.024977	T	0.22820	0.0551	.	.	.	0.09310	N	1	P	0.48162	0.906	P	0.46585	0.521	T	0.05402	-1.0887	9	0.32370	T	0.25	-40.5321	8.0089	0.30342	0.0:0.8755:0.0:0.1245	.	347	O96006	ZBED1_HUMAN	M	347	ENSP00000370621:V347M;ENSP00000370620:V347M;ENSP00000370616:V347M	ENSP00000370616:V347M	V	-	1	0	ZBED1	2417722	0.788000	0.28762	0.583000	0.28640	0.392000	0.30506	0.277000	0.18734	1.155000	0.42497	0.519000	0.50382	GTG		0.617	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3		NM_004729		20	13	0	0	0	0.012319	0	20	13		
CLCN4	1183	broad.mit.edu	37	X	10155598	10155598	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:10155598G>T	ENST00000380833.4	+	4	579	c.188G>T	c.(187-189)aGc>aTc	p.S63I	CLCN4_ENST00000421085.2_Intron|CLCN4_ENST00000380829.1_Missense_Mutation_p.S63I	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	63					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCATCAAGAGCCTGCTGGAT	0.542																																					Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.3		NaN																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(187-189)AGC>ATC		chloride channel 4							191.0	163.0	173.0					X																	10155598		2203	4300	6503	SO:0001583	missense	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10155598G>T	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.188G>T	X.37:g.10155598G>T	ENSP00000370213:p.Ser63Ile					CLCN4_uc011mid.1_Intron	p.S63I	NM_001830	NP_001821	P51793	CLCN4_HUMAN			4	618	+			63			Cytoplasmic (By similarity).		A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.188G>T	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872766	0.51695	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000454850	D;D;D	0.91124	-2.79;-2.79;-2.79	4.66	3.78	0.43462	Chloride channel, core (2);	0.219434	0.53938	D	0.000043	D	0.90875	0.7133	M	0.80982	2.52	0.80722	D	1	B	0.14438	0.01	B	0.24848	0.056	D	0.88241	0.2910	10	0.72032	D	0.01	-8.7878	13.7785	0.63069	0.0:0.1517:0.8483:0.0	.	63	P51793	CLCN4_HUMAN	I	63	ENSP00000370213:S63I;ENSP00000370209:S63I;ENSP00000403064:S63I	ENSP00000370209:S63I	S	+	2	0	CLCN4	10115598	1.000000	0.71417	0.468000	0.27192	0.778000	0.44026	9.566000	0.98157	0.851000	0.35264	0.513000	0.50165	AGC		0.542	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1				184	8	1	0	8.60899e-122	0.00361	1.03122e-121	184	8		
NHS	4810	broad.mit.edu	37	X	17739625	17739625	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:17739625A>G	ENST00000380060.3	+	4	1255	c.917A>G	c.(916-918)cAc>cGc	p.H306R	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Missense_Mutation_p.H150R	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	327					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AACCCAATACACAATATCCCT	0.483																																						uc004cxx.2		NaN																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(916-918)CAC>CGC		Nance-Horan syndrome protein isoform 1							198.0	160.0	173.0					X																	17739625		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17739625A>G		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.917A>G	X.37:g.17739625A>G	ENSP00000369400:p.His306Arg					NHS_uc011mix.1_Missense_Mutation_p.H327R|NHS_uc004cxy.2_Missense_Mutation_p.H150R|NHS_uc004cxz.2_Missense_Mutation_p.H129R|NHS_uc004cya.2_Missense_Mutation_p.H29R	p.H306R	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			4	1255	+	Hepatocellular(33;0.183)		306					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.917A>G	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313673	0.60414	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.42131	0.98;0.98	5.97	4.8	0.61643	.	0.107189	0.64402	D	0.000003	T	0.51312	0.1667	L	0.54323	1.7	0.41590	D	0.988791	P;P;P;D	0.62365	0.763;0.763;0.763;0.991	B;B;B;P	0.57009	0.361;0.361;0.361;0.811	T	0.47142	-0.9140	10	0.38643	T	0.18	-20.4598	11.3574	0.49623	0.7156:0.2844:0.0:0.0	.	327;148;150;306	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	R	306;150;148	ENSP00000369400:H306R;ENSP00000381170:H150R	ENSP00000369397:H148R	H	+	2	0	NHS	17649546	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.617000	0.74210	0.847000	0.35167	0.486000	0.48141	CAC		0.483	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1		NM_198270		67	2	0	0	0	0.00361	0	67	2		
PTCHD1	139411	broad.mit.edu	37	X	23411277	23411277	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:23411277T>A	ENST00000379361.4	+	3	2502	c.1642T>A	c.(1642-1644)Tac>Aac	p.Y548N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	548					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CCAGCAAAAGTACTTCAGCAA	0.433																																						uc004dal.3		NaN																	0				ovary(4)|kidney(1)|skin(1)	6						c.(1642-1644)TAC>AAC		patched domain containing 1							108.0	95.0	100.0					X																	23411277		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23411277T>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1642T>A	X.37:g.23411277T>A	ENSP00000368666:p.Tyr548Asn						p.Y548N	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			3	1650	+			548					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.1642T>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412582	0.62511	.	.	ENSG00000165186	ENST00000379361	D	0.85339	-1.97	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90868	0.7131	M	0.66297	2.02	0.80722	D	1	D	0.60160	0.987	D	0.67900	0.954	D	0.91544	0.5252	10	0.62326	D	0.03	.	14.916	0.70798	0.0:0.0:0.0:1.0	.	548	Q96NR3	PTHD1_HUMAN	N	548	ENSP00000368666:Y548N	ENSP00000368666:Y548N	Y	+	1	0	PTCHD1	23321198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.975000	0.70475	1.904000	0.55121	0.486000	0.48141	TAC		0.433	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2		NM_173495		18	59	0	0	0	0.00278	0	18	59		
MAGEB2	4113	broad.mit.edu	37	X	30237164	30237164	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:30237164C>G	ENST00000378988.4	+	2	568	c.467C>G	c.(466-468)gCc>gGc	p.A156G		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	156	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CTCAAGAAAGCCTCTGAGGGC	0.448																																						uc004dbz.2		NaN																	0				ovary(1)	1						c.(466-468)GCC>GGC		melanoma antigen family B, 2							54.0	50.0	51.0					X																	30237164		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30237164C>G	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.467C>G	X.37:g.30237164C>G	ENSP00000368273:p.Ala156Gly						p.A156G	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	570	+			156			MAGE.		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.467C>G	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734255	0.48939	.	.	ENSG00000099399	ENST00000378988	T	0.11385	2.78	3.27	1.44	0.22558	.	0.186246	0.45361	D	0.000366	T	0.36524	0.0970	H	0.96805	3.885	0.09310	N	1	D	0.76494	0.999	D	0.66351	0.943	T	0.28332	-1.0047	10	0.87932	D	0	.	3.4174	0.07381	0.251:0.607:0.0:0.142	.	156	O15479	MAGB2_HUMAN	G	156	ENSP00000368273:A156G	ENSP00000368273:A156G	A	+	2	0	MAGEB2	30147085	0.002000	0.14202	0.042000	0.18584	0.267000	0.26476	0.557000	0.23454	0.257000	0.21650	0.436000	0.28706	GCC		0.448	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1		NM_002364		8	0	0	0	0	0.006214	0	8	0		
CASK	8573	broad.mit.edu	37	X	41437603	41437603	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:41437603T>C	ENST00000378163.1	-	15	1967	c.1493A>G	c.(1492-1494)gAt>gGt	p.D498G	CASK_ENST00000378158.1_Missense_Mutation_p.D498G|CASK_ENST00000421587.2_Missense_Mutation_p.D492G|CASK_ENST00000472704.1_5'UTR|CASK_ENST00000378154.1_Missense_Mutation_p.D498G|CASK_ENST00000361962.4_Missense_Mutation_p.D498G|CASK_ENST00000442742.2_Missense_Mutation_p.D498G|CASK_ENST00000378166.4_Missense_Mutation_p.D498G|CASK_ENST00000318588.9_Missense_Mutation_p.D498G			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	498	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CATTGGTTCATCTGTGTTCTT	0.413																																					NSCLC(42;104 1086 3090 27189 35040)	uc004dfl.3		NaN																	0				ovary(3)|lung(2)|stomach(1)	6						c.(1492-1494)GAT>GGT		calcium/calmodulin-dependent serine protein							123.0	95.0	104.0					X																	41437603		2203	4300	6503	SO:0001583	missense	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41437603T>C	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1493A>G	X.37:g.41437603T>C	ENSP00000367405:p.Asp498Gly					CASK_uc004dfj.3_Missense_Mutation_p.D61G|CASK_uc004dfk.3_Missense_Mutation_p.D313G|CASK_uc004dfm.3_Missense_Mutation_p.D498G|CASK_uc004dfn.3_Missense_Mutation_p.D492G	p.D498G	NM_003688	NP_003679	O14936	CSKP_HUMAN			15	1539	-			498			PDZ.		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37	c.1493A>G		.	.	.	.	.	.	.	.	.	.	T	11.44	1.638390	0.29157	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.51	5.51	0.81932	PDZ/DHR/GLGF (3);	0.000000	0.56097	D	0.000036	T	0.56731	0.2005	L	0.35288	1.05	0.80722	D	1	D;P;B;D;D	0.89917	1.0;0.954;0.175;0.999;0.975	D;D;B;D;P	0.91635	0.999;0.932;0.155;0.981;0.685	T	0.52426	-0.8577	10	0.25106	T	0.35	.	14.7991	0.69900	0.0:0.0:0.0:1.0	.	492;498;498;498;113	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	G	492;498;498;498;113;498;498;498;498	ENSP00000400526:D492G;ENSP00000322727:D498G;ENSP00000354641:D498G;ENSP00000367405:D498G;ENSP00000367421:D113G;ENSP00000367400:D498G;ENSP00000367408:D498G;ENSP00000398007:D498G;ENSP00000367396:D498G	ENSP00000322727:D498G	D	-	2	0	CASK	41322547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.635000	0.83286	1.944000	0.56390	0.486000	0.48141	GAT		0.413	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1		NM_003688		36	0	0	0	0	0.009718	0	36	0		
RRAGB	10325	broad.mit.edu	37	X	55777615	55777615	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:55777615G>T	ENST00000262850.7	+	7	1125	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	RRAGB_ENST00000374941.4_Nonsense_Mutation_p.E200*|RRAGB_ENST00000474757.1_3'UTR	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						TATCTGGGATGAAACCCTCTA	0.363																																						uc004dup.2		NaN																	0					0						c.(682-684)GAA>TAA		Ras-related GTP binding B long isoform							81.0	68.0	73.0					X																	55777615		2202	4300	6502	SO:0001587	stop_gained	10325				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	g.chrX:55777615G>T	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.682G>T	X.37:g.55777615G>T	ENSP00000262850:p.Glu228*					RRAGB_uc004duq.2_Nonsense_Mutation_p.E200*	p.E228*	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN			7	1333	+			228						Nonsense_Mutation	SNP	ENST00000262850.7	37	c.682G>T	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878572	0.91740	.	.	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	.	.	.	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-11.5914	14.2118	0.65769	0.0:0.0:1.0:0.0	.	.	.	.	X	200;162;228	.	ENSP00000262850:E228X	E	+	1	0	RRAGB	55794340	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.008000	0.93601	2.016000	0.59253	0.600000	0.82982	GAA		0.363	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1		NM_016656		14	0	1	0	2.54575e-18	0.010504	2.88345e-18	14	0		
OPHN1	4983	broad.mit.edu	37	X	67431998	67431998	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:67431998T>C	ENST00000355520.5	-	8	1295	c.654A>G	c.(652-654)acA>acG	p.T218T	OPHN1_ENST00000540071.1_Silent_p.T218T	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	218					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GGAAATCCTGTGTGAGCTCCA	0.403																																						uc004dww.3		NaN																	0				ovary(2)	2						c.(652-654)ACA>ACG		oligophrenin 1							95.0	77.0	83.0					X																	67431998		2203	4300	6503	SO:0001819	synonymous_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67431998T>C	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.654A>G	X.37:g.67431998T>C						OPHN1_uc011mpg.1_Silent_p.T218T|OPHN1_uc004dwx.2_Silent_p.T218T	p.T218T	NM_002547	NP_002538	O60890	OPHN1_HUMAN			8	948	-			218					B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Silent	SNP	ENST00000355520.5	37	c.654A>G	CCDS14388.1																																																																																				0.403	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1		NM_002547		13	1	0	0	0	0.007413	0	13	1		
ACRC	93953	broad.mit.edu	37	X	70823918	70823918	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:70823918C>T	ENST00000373695.1	+	7	1328	c.791C>T	c.(790-792)gCt>gTt	p.A264V	ACRC_ENST00000373696.3_Missense_Mutation_p.A264V			Q96QF7	ACRC_HUMAN	acidic repeat containing	264	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GATTCGGAAGCTCCCGACGAC	0.557																																						uc004eae.2		NaN																	0				ovary(3)	3						c.(790-792)GCT>GTT		ACRC protein							23.0	24.0	24.0					X																	70823918		2143	4156	6299	SO:0001583	missense	93953					nucleus		g.chrX:70823918C>T	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.791C>T	X.37:g.70823918C>T	ENSP00000362799:p.Ala264Val					BCYRN1_uc011mpt.1_Intron	p.A264V	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			8	1292	+	Renal(35;0.156)		264			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.791C>T	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	c	3.203	-0.163335	0.06502	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.33654	1.4;1.4	0.14	0.14	0.14804	.	.	.	.	.	T	0.13500	0.0327	N	0.03608	-0.345	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.22906	-1.0203	9	0.30078	T	0.28	.	3.6887	0.08338	2.0E-4:0.509:0.4907:1.0E-4	.	264	Q96QF7	ACRC_HUMAN	V	264	ENSP00000362800:A264V;ENSP00000362799:A264V	ENSP00000362799:A264V	A	+	2	0	ACRC	70740643	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-5.140000	0.00147	0.168000	0.19655	0.169000	0.16792	GCT		0.557	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1				3	39	0	0	0	0.008291	0	3	39		
ZMAT1	84460	broad.mit.edu	37	X	101153125	101153125	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:101153125A>T	ENST00000372782.3	-	4	344	c.297T>A	c.(295-297)ggT>ggA	p.G99G	ZMAT1_ENST00000540921.1_Silent_p.G99G|ZMAT1_ENST00000458570.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	99						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCATTTTCTTACCAGGCACTT	0.313																																						uc011mrl.1		NaN																	0				ovary(1)	1						c.(295-297)GGT>GGA		zinc finger, matrin type 1 isoform 1							130.0	99.0	109.0					X																	101153125		2203	4299	6502	SO:0001819	synonymous_variant	84460					nucleus	zinc ion binding	g.chrX:101153125A>T	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.297T>A	X.37:g.101153125A>T						ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR	p.G99G	NM_001011657	NP_001011657	Q5H9K5	ZMAT1_HUMAN			4	608	-			Error:Variant_position_missing_in_A7MD47_after_alignment					Q8NDS3|Q96JN6	Silent	SNP	ENST00000372782.3	37	c.297T>A	CCDS35348.1																																																																																				0.313	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1				22	0	0	0	0	0.008361	0	22	0		
PLS3	5358	broad.mit.edu	37	X	114871237	114871237	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:114871237C>G	ENST00000420625.2	+	8	972	c.838C>G	c.(838-840)Cat>Gat	p.H280D	PLS3_ENST00000539310.1_Missense_Mutation_p.H235D|PLS3_ENST00000537301.1_Missense_Mutation_p.H258D|PLS3_ENST00000289290.3_Missense_Mutation_p.H235D|PLS3_ENST00000355899.3_Missense_Mutation_p.H280D	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	280	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GGCAAACTTTCATTTGGAAAA	0.408																																					Colon(160;1047 1864 8490 12969 29601)	uc004eqd.2		NaN																	0				lung(1)|breast(1)	2						c.(838-840)CAT>GAT		plastin 3							123.0	125.0	124.0					X																	114871237		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114871237C>G	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.838C>G	X.37:g.114871237C>G	ENSP00000398945:p.His280Asp					PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Missense_Mutation_p.H258D|PLS3_uc004eqe.2_Missense_Mutation_p.H280D|PLS3_uc011mtg.1_Missense_Mutation_p.H253D|PLS3_uc011mth.1_Missense_Mutation_p.H235D	p.H280D	NM_005032	NP_005023	P13797	PLST_HUMAN			8	1228	+			280			CH 2.|Actin-binding 1.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.838C>G	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324874	0.81580	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67	5.66	5.66	0.87406	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98074	0.9365	H	0.94698	3.57	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.80764	0.988;0.994;0.992	D	0.99289	1.0898	10	0.87932	D	0	-16.9277	17.1434	0.86760	0.0:1.0:0.0:0.0	.	253;258;280	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	D	280;258;235;280;235	ENSP00000348163:H280D;ENSP00000445105:H258D;ENSP00000289290:H235D;ENSP00000398945:H280D;ENSP00000445339:H235D	ENSP00000289290:H235D	H	+	1	0	PLS3	114777493	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.487000	0.81328	2.363000	0.80096	0.538000	0.68166	CAT		0.408	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2				17	43	0	0	0	0.002299	0	17	43		
UBE2A	7319	broad.mit.edu	37	X	118708895	118708895	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:118708895G>A	ENST00000371558.2	+	2	250	c.76G>A	c.(76-78)Ggg>Agg	p.G26R	UBE2A_ENST00000346330.3_Missense_Mutation_p.G26R|UBE2A_ENST00000469205.1_3'UTR	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	26					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						CGGAGTCAGCGGGGCTCCGTC	0.657								Rad6 pathway																														uc004erl.2		NaN																	0					0						c.(76-78)GGG>AGG	Direct_reversal_of_damage|Rad6_pathway	ubiquitin-conjugating enzyme E2A isoform 1							160.0	126.0	138.0					X																	118708895		2203	4300	6503	SO:0001583	missense	7319				histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chrX:118708895G>A	AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"""Ubiquitin-conjugating enzymes E2"""	12472	protein-coding gene	gene with protein product		312180	"""ubiquitin-conjugating enzyme E2A (RAD6 homolog)"""			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.76G>A	X.37:g.118708895G>A	ENSP00000360613:p.Gly26Arg					UBE2A_uc004erm.2_Missense_Mutation_p.G26R|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA	p.G26R	NM_003336	NP_003327	P49459	UBE2A_HUMAN			2	252	+			26					A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Missense_Mutation	SNP	ENST00000371558.2	37	c.76G>A	CCDS14580.1	.	.	.	.	.	.	.	.	.	.	G	35	5.479544	0.96307	.	.	ENSG00000077721	ENST00000371558;ENST00000346330	T;T	0.71461	-0.57;-0.57	4.87	4.87	0.63330	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.80336	0.4604	L	0.49455	1.56	0.80722	D	1	D;D	0.76494	0.993;0.999	P;D	0.78314	0.883;0.991	T	0.82538	-0.0407	10	0.87932	D	0	-7.9938	15.6499	0.77084	0.0:0.0:1.0:0.0	.	26;26	A6NGR2;P49459	.;UBE2A_HUMAN	R	26	ENSP00000360613:G26R;ENSP00000335027:G26R	ENSP00000335027:G26R	G	+	1	0	UBE2A	118592923	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	8.995000	0.93534	2.253000	0.74438	0.600000	0.82982	GGG		0.657	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1		NM_003336		61	3	0	0	0	0.00361	0	61	3		
ENOX2	10495	broad.mit.edu	37	X	129801714	129801714	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:129801714C>A	ENST00000370927.1	-	6	805	c.784G>T	c.(784-786)Gat>Tat	p.D262Y	ENOX2_ENST00000394363.1_Missense_Mutation_p.D233Y|ENOX2_ENST00000370935.1_Missense_Mutation_p.D233Y|ENOX2_ENST00000338144.3_Missense_Mutation_p.D262Y			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	262					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						AATTTGGAATCATCTGAAAAA	0.403																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2		NaN																	0				ovary(1)	1						c.(784-786)GAT>TAT		ecto-NOX disulfide-thiol exchanger 2 isoform b							67.0	56.0	60.0					X																	129801714		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129801714C>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.784G>T	X.37:g.129801714C>A	ENSP00000359965:p.Asp262Tyr					ENOX2_uc004evx.2_Missense_Mutation_p.D233Y|ENOX2_uc004evy.2_Missense_Mutation_p.D233Y|ENOX2_uc004evv.2_Missense_Mutation_p.D89Y	p.D262Y	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			9	1202	-			262					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.784G>T	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018384	0.54576	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	5.03	5.03	0.67393	.	0.060634	0.64402	D	0.000004	T	0.63510	0.2517	M	0.74258	2.255	0.80722	D	1	P;P	0.35923	0.528;0.528	B;B	0.37198	0.149;0.243	T	0.64943	-0.6288	8	.	.	.	-19.1789	14.5964	0.68410	0.0:1.0:0.0:0.0	.	262;290	Q16206;A4QPE1	ENOX2_HUMAN;.	Y	233;233;262;233;290;262;233	.	.	D	-	1	0	ENOX2	129629395	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.320000	0.79064	2.322000	0.78497	0.594000	0.82650	GAT		0.403	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1		NM_182314		5	10	1	0	5.9392e-07	0.001168	6.18048e-07	5	10		
IGSF1	3547	broad.mit.edu	37	X	130409559	130409559	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:130409559G>A	ENST00000361420.3	-	16	3156	c.3077C>T	c.(3076-3078)aCc>aTc	p.T1026I	IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Missense_Mutation_p.T1031I|IGSF1_ENST00000370910.1_Missense_Mutation_p.T1017I|IGSF1_ENST00000370904.1_Missense_Mutation_p.T1017I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1026	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGATATATTGGTGATGGGGAA	0.517																																						uc004ewd.2		NaN																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(3076-3078)ACC>ATC		immunoglobulin superfamily, member 1 isoform 1							137.0	114.0	122.0					X																	130409559		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409559G>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3077C>T	X.37:g.130409559G>A	ENSP00000355010:p.Thr1026Ile					IGSF1_uc004ewe.3_Missense_Mutation_p.T1020I|IGSF1_uc004ewf.2_Missense_Mutation_p.T1006I	p.T1026I	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			16	3315	-			1026			Extracellular (Potential).|Ig-like C2-type 10.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3077C>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	1.834	-0.469041	0.04445	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.32	2.53	0.30540	Immunoglobulin-like fold (1);	0.437402	0.19667	N	0.108842	T	0.08802	0.0218	L	0.31294	0.92	0.21933	N	0.999467	B;B;B	0.13594	0.001;0.001;0.008	B;B;B	0.13407	0.003;0.005;0.009	T	0.28396	-1.0045	10	0.45353	T	0.12	.	4.314	0.10984	0.2035:0.0:0.6148:0.1817	.	1017;470;1026	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	I	1017;1026;1017;1031	ENSP00000359947:T1017I;ENSP00000355010:T1026I;ENSP00000359941:T1017I;ENSP00000359940:T1031I	ENSP00000355010:T1026I	T	-	2	0	IGSF1	130237240	0.995000	0.38212	0.986000	0.45419	0.085000	0.17905	1.097000	0.30988	0.267000	0.21916	-0.222000	0.12452	ACC		0.517	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1				89	2	0	0	0	0.00361	0	89	2		
MAGEC1	9947	broad.mit.edu	37	X	140994913	140994913	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:140994913C>A	ENST00000285879.4	+	4	2009	c.1723C>A	c.(1723-1725)Ctg>Atg	p.L575M	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	575										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGACTCCCTGTCTCCTCA	0.597										HNSCC(15;0.026)																												uc004fbt.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1723-1725)CTG>ATG		melanoma antigen family C, 1							239.0	258.0	251.0					X																	140994913		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140994913C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1723C>A	X.37:g.140994913C>A	ENSP00000285879:p.Leu575Met	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.L575M	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2009	+	Acute lymphoblastic leukemia(192;6.56e-05)		575					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1723C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	12.49	1.952705	0.34471	.	.	ENSG00000155495	ENST00000285879	T	0.02236	4.38	0.92	0.92	0.19397	.	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.80722	D	1	D	0.54964	0.969	P	0.61397	0.888	T	0.62530	-0.6835	9	0.46703	T	0.11	.	7.6329	0.28249	0.0:0.9999:0.0:1.0E-4	.	575	O60732	MAGC1_HUMAN	M	575	ENSP00000285879:L575M	ENSP00000285879:L575M	L	+	1	2	MAGEC1	140822579	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	-0.593000	0.05740	0.179000	0.19938	0.181000	0.17075	CTG		0.597	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462		6	301	1	0	3.09899e-07	0.004482	3.23499e-07	6	301		
ATP2B3	492	broad.mit.edu	37	X	152807362	152807362	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:152807362G>A	ENST00000349466.2	+	4	968	c.642G>A	c.(640-642)ggG>ggA	p.G214G	ATP2B3_ENST00000359149.3_Silent_p.G214G|ATP2B3_ENST00000263519.4_Silent_p.G214G|ATP2B3_ENST00000370186.1_Silent_p.G214G|ATP2B3_ENST00000370181.2_Silent_p.G214G|ATP2B3_ENST00000393842.1_Silent_p.G214G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	214					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGTGGGGGACATTGCCC	0.637																																						uc004fht.1		NaN																	0				pancreas(1)	1						c.(640-642)GGG>GGA		plasma membrane calcium ATPase 3 isoform 3b							74.0	70.0	72.0					X																	152807362		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152807362G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.642G>A	X.37:g.152807362G>A						ATP2B3_uc004fhs.1_Silent_p.G214G	p.G214G	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			3	768	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		214			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.642G>A	CCDS35440.1																																																																																				0.637	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1		NM_021949		59	9	0	0	0	0.00361	0	59	9		
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-	rs587765256		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:145457040_145457042delTCT	ENST00000369314.1	-	7	625_627	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E	POLR3GL_ENST00000369313.3_In_Frame_Del_p.150_151EE>E	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	173	Glu-rich.				gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448																																						uc001enp.1		NaN																	0					0						c.(517-522)GAAGAG>GAG		polymerase (RNA) III (DNA directed) polypeptide																																				SO:0001651	inframe_deletion	84265							g.chr1:145457040_145457042delTCT	BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.519_521delAGA	1.37:g.145457049_145457051delTCT	ENSP00000358320:p.Glu174del					NBPF10_uc001emp.3_Intron	p.173_174EE>E	NM_032305	NP_115681	Q9BT43	RPC7L_HUMAN			7	626_628	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		173_174			Glu-rich.		B1MVG5	In_Frame_Del	DEL	ENST00000369314.1	37	c.519_521delAGA	CCDS914.1																																																																																				0.448	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038510.1		NM_032305		5	9	NaN	NaN	NaN	NaN	NaN	5	9	---	---
CEP350	9857	broad.mit.edu	37	1	180053254	180053254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:180053254delA	ENST00000367607.3	+	31	6644	c.6226delA	c.(6226-6228)aaafs	p.K2077fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2077					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R2078fs*6(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAAGGAACAGAAAAAAAGGCA	0.423																																						uc001gnt.2		NaN																	2	Deletion - Frameshift(2)		large_intestine(2)	ovary(4)	4						c.(6226-6228)AAAfs		centrosome-associated protein 350							76.0	72.0	73.0					1																	180053254		2203	4300	6503	SO:0001589	frameshift_variant	9857					centrosome|nucleus|spindle		g.chr1:180053254delA	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6226delA	1.37:g.180053254delA	ENSP00000356579:p.Lys2077fs					CEP350_uc009wxl.2_Frame_Shift_Del_p.K2075fs|CEP350_uc001gnv.2_Frame_Shift_Del_p.K211fs|CEP350_uc001gnw.1_5'Flank	p.K2076fs	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			31	6609	+			2076			Potential.		O75068|Q8TDK3|Q8WY20	Frame_Shift_Del	DEL	ENST00000367607.3	37	c.6226delA	CCDS1336.1																																																																																				0.423	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2		NM_014810		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
OR6F1	343169	broad.mit.edu	37	1	247875413	247875414	+	Frame_Shift_Del	DEL	AA	AA	-	rs147403383		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:247875413_247875414delAA	ENST00000302084.2	-	1	691_692	c.644_645delTT	c.(643-645)tttfs	p.F215fs	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	215			F -> L (in dbSNP:rs2282316).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CATAGGAGACAAAGGTGATGAG	0.559																																						uc001idj.1		NaN																	0					0						c.(643-645)TTTfs		olfactory receptor, family 6, subfamily F,																																				SO:0001589	frameshift_variant	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875413_247875414delAA	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.644_645delTT	1.37:g.247875413_247875414delAA	ENSP00000305640:p.Phe215fs						p.F215fs	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	644_645	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		215			Helical; Name=5; (Potential).		B2RNV6|Q6IF02|Q96R39	Frame_Shift_Del	DEL	ENST00000302084.2	37	c.644_645delTT	CCDS31095.1																																																																																				0.559	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1		NM_001005286		136	96	NaN	NaN	NaN	NaN	NaN	136	96	---	---
ATG2A	23130	broad.mit.edu	37	11	64679559	64679560	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:64679559_64679560delGT	ENST00000377264.3	-	8	1196_1197	c.1084_1085delAC	c.(1084-1086)actfs	p.T362fs	ATG2A_ENST00000421419.2_Frame_Shift_Del_p.T362fs	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	362					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ACACCCACCAGTGTTATCCAGG	0.639																																						uc001obx.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1084-1086)ACTfs		autophagy related 2A																																				SO:0001589	frameshift_variant	23130						protein binding	g.chr11:64679559_64679560delGT		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1084_1085delAC	11.37:g.64679561_64679562delGT	ENSP00000366475:p.Thr362fs						p.T362fs	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			8	1199_1200	-			362					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Frame_Shift_Del	DEL	ENST00000377264.3	37	c.1084_1085delAC	CCDS31602.1																																																																																				0.639	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1		NM_015104		17	99	NaN	NaN	NaN	NaN	NaN	17	99	---	---
USP28	57646	broad.mit.edu	37	11	113694349	113694350	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:113694349_113694350delTT	ENST00000003302.4	-	12	1328_1329	c.1260_1261delAA	c.(1258-1263)aaaattfs	p.KI420fs	RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000537706.1_Frame_Shift_Del_p.KI420fs|USP28_ENST00000544967.1_Frame_Shift_Del_p.KI128fs|USP28_ENST00000545540.1_Frame_Shift_Del_p.KI295fs|USP28_ENST00000260188.5_Frame_Shift_Del_p.KI420fs	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	420	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TGCTGCAGAATTTTTATTTCCT	0.302																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2		NaN																	0				lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(1258-1263)AAAATTfs		ubiquitin specific protease 28																																				SO:0001589	frameshift_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113694349_113694350delTT	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1260_1261delAA	11.37:g.113694351_113694352delTT	ENSP00000003302:p.Lys420fs					USP28_uc001pog.2_Frame_Shift_Del_p.K128fs|USP28_uc010rwy.1_Frame_Shift_Del_p.K295fs|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Frame_Shift_Del_p.K420fs	p.K420fs	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	12	1293_1294	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	420_421					B0YJC0|B0YJC1|Q9P213	Frame_Shift_Del	DEL	ENST00000003302.4	37	c.1260_1261delAA	CCDS31680.1																																																																																				0.302	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1				25	29	NaN	NaN	NaN	NaN	NaN	25	29	---	---
KRT2	3849	broad.mit.edu	37	12	53045603	53045604	+	In_Frame_Ins	INS	-	-	AAGCCGCTGCCACCTCCA	rs369691469		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA	ENST00000309680.3	-	1	344_345	c.323_324insTGGAGGTGGCAGCGGCTT	c.(322-324)ttc>ttTGGAGGTGGCAGCGGCTTc	p.108_108F>FGGGSGF		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	108	Head.			F -> FGGGSGF (in Ref. 1; AAC83410 and 2; AAB81946). {ECO:0000305}.	epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		caccaccactgaagccgctgcc	0.629																																						uc001sat.2		NaN																	0				ovary(2)	2						c.(322-324)TTC>TTTGGAGGTGGCAGCGGCTTC		keratin 2				94,555,3563		2,3,87,30,492,1492						-7.4	0.2		dbSNP_126	33	1,1614,6567		0,0,1,206,1202,2682	no	codingComplex	KRT2	NM_000423.2		2,3,88,236,1694,4174	A1A1,A1A2,A1R,A2A2,A2R,RR		19.7385,15.4084,18.2669				95,2169,10130				SO:0001652	inframe_insertion	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.306_323dupTGGAGGTGGCAGCGGCTT	12.37:g.53045603_53045604insAAGCCGCTGCCACCTCCA	ENSP00000310861:p.GlyGlyGlySerGlyPhe108dup						p.108_108F>FGGGSGF	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	356_357	-			108	F -> FGGGSGF (in Ref. 1; AAC83410 and 2; AAB81946).		Head.		Q4VAQ2	In_Frame_Ins	INS	ENST00000309680.3	37	c.323_324insTGGAGGTGGCAGCGGCTT	CCDS8835.1																																																																																				0.629	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1		NM_000423		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
BAZ1A	11177	broad.mit.edu	37	14	35240754	35240755	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:35240754_35240755delCT	ENST00000382422.2	-	20	3590_3591	c.3263_3264delAG	c.(3262-3264)gagfs	p.E1088fs	BAZ1A_ENST00000358716.4_Frame_Shift_Del_p.E1056fs|BAZ1A_ENST00000360310.1_Frame_Shift_Del_p.E1088fs			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1088					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CAATGCCCTGCTCTATTTGAAA	0.366																																						uc001wsk.2		NaN																	0				lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(3262-3264)GAGfs		bromodomain adjacent to zinc finger domain, 1A																																				SO:0001589	frameshift_variant	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35240754_35240755delCT	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.3263_3264delAG	14.37:g.35240756_35240757delCT	ENSP00000371859:p.Glu1088fs					BAZ1A_uc001wsl.2_Frame_Shift_Del_p.E1056fs	p.E1088fs	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	21	3831_3832	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		1088					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Frame_Shift_Del	DEL	ENST00000382422.2	37	c.3263_3264delAG	CCDS9651.1																																																																																				0.366	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1				49	166	NaN	NaN	NaN	NaN	NaN	49	166	---	---
CSPG4	1464	broad.mit.edu	37	15	75981450	75981450	+	Frame_Shift_Del	DEL	G	G	-	rs141434179	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:75981450delG	ENST00000308508.5	-	3	2048	c.1956delC	c.(1954-1956)gccfs	p.A652fs		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	652	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCTTCAGCGTGGCCGGGGGGC	0.672																																						uc002baw.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1954-1956)GCCfs		chondroitin sulfate proteoglycan 4 precursor							33.0	35.0	34.0					15																	75981450		2196	4289	6485	SO:0001589	frameshift_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981450delG	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1956delC	15.37:g.75981450delG	ENSP00000312506:p.Ala652fs						p.A652fs	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	2049	-			652			Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Frame_Shift_Del	DEL	ENST00000308508.5	37	c.1956delC	CCDS10284.1																																																																																				0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1		NM_001897		63	27	NaN	NaN	NaN	NaN	NaN	63	27	---	---
IL32	9235	broad.mit.edu	37	16	3117416	3117416	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:3117416delG	ENST00000534507.1	+	3	265	c.54delG	c.(52-54)atgfs	p.M18fs	IL32_ENST00000531965.1_Splice_Site_p.M8fs|IL32_ENST00000530890.1_Splice_Site_p.M18fs|IL32_ENST00000008180.9_Splice_Site_p.M18fs|IL32_ENST00000548246.1_Splice_Site_p.M18fs|IL32_ENST00000444393.3_Splice_Site_p.M18fs|IL32_ENST00000529699.1_Splice_Site_p.M18fs|IL32_ENST00000396887.3_Splice_Site_p.M18fs|IL32_ENST00000530538.2_Splice_Site_p.M18fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000549213.1_Splice_Site_p.M18fs|IL32_ENST00000529550.1_Splice_Site_p.M18fs|IL32_ENST00000548476.1_Frame_Shift_Del_p.M18fs|IL32_ENST00000526464.2_Splice_Site_p.M18fs|IL32_ENST00000552664.1_Splice_Site_p.M18fs|IL32_ENST00000551513.1_Frame_Shift_Del_p.M18fs|IL32_ENST00000325568.5_Splice_Site_p.M18fs|IL32_ENST00000533097.2_Splice_Site_p.M18fs|IL32_ENST00000548652.1_Splice_Site_p.M18fs|IL32_ENST00000551122.1_Splice_Site_p.M18fs|IL32_ENST00000525643.2_Splice_Site_p.M18fs|IL32_ENST00000396890.2_Frame_Shift_Del_p.M18fs|IL32_ENST00000440815.3_Splice_Site_p.M18fs|IL32_ENST00000552936.1_Intron|IL32_ENST00000528163.2_Splice_Site_p.M18fs|IL32_ENST00000382213.3_Splice_Site_p.M18fs|IL32_ENST00000552356.1_Splice_Site_p.M18fs			P24001	IL32_HUMAN	interleukin 32	18					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						AGGCCCGAATGGTAATGCTCC	0.552																																						uc002cto.2		NaN																	0				pancreas(1)	1						c.(52-54)ATGfs		interleukin 32 isoform B							141.0	126.0	131.0					16																	3117416		2197	4300	6497	SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3117416delG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.54delG	16.37:g.3117416delG	ENSP00000431775:p.Met18fs					IL32_uc002ctk.2_Frame_Shift_Del_p.M18fs|IL32_uc010uwp.1_Frame_Shift_Del_p.M18fs|IL32_uc010btb.2_Frame_Shift_Del_p.M8fs|IL32_uc002ctl.2_Frame_Shift_Del_p.M18fs|IL32_uc002ctm.2_Frame_Shift_Del_p.M18fs|IL32_uc002ctn.2_Frame_Shift_Del_p.M18fs|IL32_uc010btc.1_Frame_Shift_Del_p.M18fs|IL32_uc002cts.3_Frame_Shift_Del_p.M18fs|IL32_uc002ctp.2_Frame_Shift_Del_p.M18fs|IL32_uc010uwq.1_Frame_Shift_Del_p.M18fs|IL32_uc002ctq.2_Frame_Shift_Del_p.M18fs|IL32_uc002ctr.2_Frame_Shift_Del_p.M18fs|IL32_uc002ctt.2_Frame_Shift_Del_p.M18fs|IL32_uc010uwr.1_Frame_Shift_Del_p.M18fs|IL32_uc002ctu.2_Frame_Shift_Del_p.M18fs	p.M18fs	NM_004221	NP_004212	P24001	IL32_HUMAN			3	265	+			18					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Del	DEL	ENST00000534507.1	37	c.54delG																																																																																					0.552	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2		NM_004221		31	61	NaN	NaN	NaN	NaN	NaN	31	61	---	---
KAT2A	2648	broad.mit.edu	37	17	40269467	40269468	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:40269467_40269468insA	ENST00000225916.5	-	10	1628_1629	c.1575_1576insT	c.(1573-1578)aatgtcfs	p.V526fs		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	526	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGGGAAAAGACATTCTGCAGCC	0.644																																						uc002hyx.2		NaN																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.(1573-1578)AATGTCfs		general control of amino acid synthesis 5-like																																				SO:0001589	frameshift_variant	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40269467_40269468insA	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1576dupT	17.37:g.40269468_40269468dupA	ENSP00000225916:p.Val526fs						p.N525fs	NM_021078	NP_066564	Q92830	KAT2A_HUMAN			10	1635_1636	-			525_526			N-acetyltransferase.		Q8N1A2|Q9UCW1	Frame_Shift_Ins	INS	ENST00000225916.5	37	c.1575_1576insT	CCDS11417.1																																																																																				0.644	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1		NM_021078		13	58	NaN	NaN	NaN	NaN	NaN	13	58	---	---
ZNF260	339324	broad.mit.edu	37	19	37005871	37005871	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:37005871delT	ENST00000523638.1	-	3	1391	c.270delA	c.(268-270)aaafs	p.K90fs	ZNF260_ENST00000592282.1_Frame_Shift_Del_p.K90fs|ZNF260_ENST00000588993.1_Frame_Shift_Del_p.K90fs|ZNF260_ENST00000593142.1_Frame_Shift_Del_p.K90fs	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	90					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GGCTGAAGGCTTTTCCACATT	0.393																																						uc002oee.1		NaN																	0					0						c.(268-270)AAAfs		zinc finger protein 260							123.0	114.0	117.0					19																	37005871		2203	4300	6503	SO:0001589	frameshift_variant	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005871delT	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.270delA	19.37:g.37005871delT	ENSP00000429803:p.Lys90fs					ZNF260_uc002oed.1_Frame_Shift_Del_p.K87fs|ZNF260_uc010eey.1_Frame_Shift_Del_p.K87fs|ZNF260_uc002oef.1_Frame_Shift_Del_p.K87fs	p.K90fs	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN			4	1114	-	Esophageal squamous(110;0.162)		90			C2H2-type 3.		Q0VF43	Frame_Shift_Del	DEL	ENST00000523638.1	37	c.270delA	CCDS33003.1																																																																																				0.393	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2		NM_001012756		34	7	NaN	NaN	NaN	NaN	NaN	34	7	---	---
PDE9A	5152	broad.mit.edu	37	21	44108087	44108088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:44108087_44108088insC	ENST00000291539.6	+	3	261_262	c.201_202insC	c.(202-204)cccfs	p.P68fs	PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.A44fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.P27fs|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.P27fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.P33fs|PDE9A_ENST00000398232.3_Intron|PDE9A_ENST00000328862.6_Intron|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.P27fs|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.P68fs|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.P68fs|PDE9A_ENST00000470987.1_3'UTR	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	68					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	ACCCCACCATGCCCGCGAATTC	0.574																																						uc002zbm.2		NaN																	0				ovary(1)|skin(1)	2						c.(199-204)ATGCCCfs		phosphodiesterase 9A isoform a																																				SO:0001589	frameshift_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44108087_44108088insC	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.204dupC	21.37:g.44108090_44108090dupC	ENSP00000291539:p.Pro68fs					PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Frame_Shift_Ins_p.M67fs|PDE9A_uc002zbp.2_Intron|PDE9A_uc002zbq.2_Frame_Shift_Ins_p.A44fs|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Frame_Shift_Ins_p.M26fs|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Frame_Shift_Ins_p.M67fs|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Translation_Start_Site|PDE9A_uc002zca.2_Frame_Shift_Ins_p.M26fs|PDE9A_uc002zcb.2_Intron|PDE9A_uc002zcc.2_Frame_Shift_Ins_p.M26fs|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Intron|PDE9A_uc002zcf.2_Translation_Start_Site|PDE9A_uc002zcg.2_Intron	p.M67fs	NM_002606	NP_002597	O76083	PDE9A_HUMAN			3	264_265	+			67_68					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Frame_Shift_Ins	INS	ENST00000291539.6	37	c.201_202insC	CCDS13690.1																																																																																				0.574	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1				50	7	NaN	NaN	NaN	NaN	NaN	50	7	---	---
FAT1	2195	broad.mit.edu	37	4	187541806	187541807	+	Frame_Shift_Ins	INS	-	-	TTTAGGTGACT			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:187541806_187541807insTTTAGGTGACT	ENST00000441802.2	-	10	6142_6143	c.5933_5934insAGTCACCTAAA	c.(5932-5934)aagfs	p.-1978fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCTGGGTAAACTTTAGGTGACT	0.45										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(5932-5934)AAGfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541806_187541807insTTTAGGTGACT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5923_5933dupAGTCACCTAAA	4.37:g.187541807_187541817dupTTTAGGTGACT	ENSP00000406229:p.Lys1978fs	HNSCC(5;0.00058)					p.K1978fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	6121_6122	-			1978			Extracellular (Potential).|Cadherin 17.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.5933_5934insAGTCACCTAAA	CCDS47177.1																																																																																				0.450	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		10	231	NaN	NaN	NaN	NaN	NaN	10	231	---	---
TRDN	10345	broad.mit.edu	37	6	123892184	123892185	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:123892184_123892185delTC	ENST00000398178.3	-	2	136_137	c.115_116delGA	c.(115-117)gacfs	p.D39fs	TRDN_ENST00000542443.1_Frame_Shift_Del_p.D39fs|TRDN_ENST00000546248.1_Frame_Shift_Del_p.D39fs|TRDN_ENST00000334268.4_Frame_Shift_Del_p.D39fs	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	39					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.D39Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CGTCACTATGTCTTCTGTGACT	0.47																																						uc003pzj.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(115-117)GACfs		triadin																																				SO:0001589	frameshift_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123892184_123892185delTC	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.115_116delGA	6.37:g.123892184_123892185delTC	ENSP00000381240:p.Asp39fs					TRDN_uc003pzk.1_Frame_Shift_Del_p.D39fs|TRDN_uc003pzl.1_Frame_Shift_Del_p.D39fs|TRDN_uc010ken.2_Frame_Shift_Del_p.D39fs|TRDN_uc010keo.1_Frame_Shift_Del_p.D39fs	p.D39fs	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	2	137_138	-			39			Cytoplasmic.		A5D6W5|F5H2W7|Q6NSB8	Frame_Shift_Del	DEL	ENST00000398178.3	37	c.115_116delGA	CCDS55053.1																																																																																				0.470	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					29	27	NaN	NaN	NaN	NaN	NaN	29	27	---	---
TENM1	10178	broad.mit.edu	37	X	123518470	123518496	+	In_Frame_Del	DEL	TTCATCACTGTAGTAGTTATGACCTGA	TTCATCACTGTAGTAGTTATGACCTGA	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:123518470_123518496delTTCATCACTGTAGTAGTTATGACCTGA	ENST00000371130.3	-	29	6327_6353	c.6264_6290delTCAGGTCATAACTACTACAGTGATGAA	c.(6262-6291)aatcaggtcataactactacagtgatgaaa>aaa	p.NQVITTTVM2088del	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_In_Frame_Del_p.NQVITTTVM2095del	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2088					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTTGGTGTGTTTCATCACTGTAGTAGTTATGACCTGATTTAAATCGT	0.366																																						uc004euj.2		NaN																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(6262-6291)AATCAGGTCATAACTACTACAGTGATGAAA>AAA		odz, odd Oz/ten-m homolog 1 isoform 3																																				SO:0001651	inframe_deletion	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123518470_123518496delTTCATCACTGTAGTAGTTATGACCTGA	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6264_6290delTCAGGTCATAACTACTACAGTGATGAA	X.37:g.123518470_123518496delTTCATCACTGTAGTAGTTATGACCTGA	ENSP00000360171:p.Asn2088_Met2096del					ODZ1_uc011muj.1_In_Frame_Del_p.NQVITTTVM2094del|ODZ1_uc010nqy.2_In_Frame_Del_p.NQVITTTVM2095del	p.NQVITTTVM2088del	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			29	6328_6354	-			2088_2096			YD 15.|Extracellular (Potential).		B2RTR5|Q5JZ17	In_Frame_Del	DEL	ENST00000371130.3	37	c.6264_6290delTCAGGTCATAACTACTACAGTGATGAA	CCDS14609.1																																																																																				0.366	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1		NM_014253		8	76	NaN	NaN	NaN	NaN	NaN	8	76	---	---
