#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
ACAP3	116983	broad.mit.edu	37	1	1235416	1235416	+	Missense_Mutation	SNP	G	G	T	rs147197474	byFrequency	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:1235416G>T	ENST00000354700.5	-	8	802	c.600C>A	c.(598-600)ttC>ttA	p.F200L	ACAP3_ENST00000379037.2_5'Flank|ACAP3_ENST00000353662.3_Missense_Mutation_p.F158L	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	200					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGCTGGAAGAAGCTGGACT	0.657																																						uc001aeb.2		NaN																	0					0						c.(598-600)TTC>TTA		ArfGAP with coiled-coil, ankyrin repeat and PH							34.0	36.0	35.0					1																	1235416		2199	4295	6494	SO:0001583	missense	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1235416G>T	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.600C>A	1.37:g.1235416G>T	ENSP00000346733:p.Phe200Leu					ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Missense_Mutation_p.F158L|ACAP3_uc001aec.1_Missense_Mutation_p.F158L	p.F200L	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN			8	674	-			200					B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	c.600C>A	CCDS19.2	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336915	0.24253	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.07114	3.22;3.22	4.1	4.1	0.47936	.	0.131066	0.53938	D	0.000055	T	0.08268	0.0206	N	0.16266	0.395	0.37343	D	0.910488	B;B;B	0.27559	0.181;0.0;0.0	B;B;B	0.39706	0.307;0.001;0.001	T	0.39121	-0.9629	10	0.36615	T	0.2	.	11.8535	0.52425	0.0887:0.0:0.9113:0.0	.	240;200;158	Q5TA40;Q96P50;Q96P50-1	.;ACAP3_HUMAN;.	L	200;158	ENSP00000346733:F200L;ENSP00000321139:F158L	ENSP00000321139:F158L	F	-	3	2	ACAP3	1225279	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	1.612000	0.36889	2.231000	0.72958	0.491000	0.48974	TTC		0.657	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2		NM_030649		49	64	1	0	6.17242e-35	0.01441	6.65509e-35	49	64		
MEGF6	1953	broad.mit.edu	37	1	3425647	3425647	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:3425647T>C	ENST00000356575.4	-	12	1746	c.1520A>G	c.(1519-1521)gAg>gGg	p.E507G	MEGF6_ENST00000294599.4_Missense_Mutation_p.E402G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	507						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ACCAAACTTCTCTGTGAGCGT	0.672																																					Ovarian(73;978 3658)	uc001akl.2		NaN																	0				large_intestine(1)	1						c.(1519-1521)GAG>GGG		EGF-like-domain, multiple 3 precursor							13.0	17.0	16.0					1																	3425647		1936	4112	6048	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3425647T>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1520A>G	1.37:g.3425647T>C	ENSP00000348982:p.Glu507Gly					MEGF6_uc001akk.2_Missense_Mutation_p.E402G	p.E507G	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	12	1747	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	507					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.1520A>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.183297	0.38511	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.22945	1.93;1.93	4.26	4.26	0.50523	.	0.148946	0.49916	D	0.000125	T	0.24928	0.0605	N	0.11560	0.145	0.42943	D	0.994358	P;D	0.54601	0.64;0.967	B;P	0.59487	0.406;0.858	T	0.07195	-1.0785	10	0.26408	T	0.33	-17.293	11.9273	0.52827	0.0:0.0:0.0:1.0	.	507;402	O75095;O75095-2	MEGF6_HUMAN;.	G	402;507	ENSP00000294599:E402G;ENSP00000348982:E507G	ENSP00000294599:E402G	E	-	2	0	MEGF6	3415507	1.000000	0.71417	0.965000	0.40720	0.111000	0.19643	4.614000	0.61183	1.551000	0.49450	0.379000	0.24179	GAG		0.672	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1		NM_001409		11	29	0	0	0	0.010729	0	11	29		
CASZ1	54897	broad.mit.edu	37	1	10720282	10720282	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:10720282G>A	ENST00000377022.3	-	6	1134	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Silent_p.L273L	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	273				L -> P (in Ref. 2; ABB29845). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGGCCGGGCAGGGTGCCCACC	0.687																																						uc001aro.2		NaN																	0				skin(1)	1						c.(817-819)CTG>TTG		castor homolog 1, zinc finger isoform a							30.0	35.0	34.0					1																	10720282		2201	4298	6499	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10720282G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.817C>T	1.37:g.10720282G>A						CASZ1_uc001arp.1_Silent_p.L273L|CASZ1_uc009vmx.2_Silent_p.L297L|CASZ1_uc001arq.1_Silent_p.L132L	p.L273L	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	6	1137	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	273	L -> P (in Ref. 2; ABB29845).				Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.817C>T	CCDS41246.1																																																																																				0.687	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2		NM_017766		110	106	0	0	0	0.01441	0	110	106		
ARHGEF19	128272	broad.mit.edu	37	1	16532689	16532689	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:16532689C>G	ENST00000270747.3	-	7	1420	c.1284G>C	c.(1282-1284)aaG>aaC	p.K428N	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	428	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTGGTGCTCTTGACCTCGG	0.637																																						uc001ayc.1		NaN																	0				skin(2)|ovary(1)	3						c.(1282-1284)AAG>AAC		Rho guanine nucleotide exchange factor (GEF) 19							45.0	38.0	40.0					1																	16532689		2203	4300	6503	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16532689C>G	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1284G>C	1.37:g.16532689C>G	ENSP00000270747:p.Lys428Asn					ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_5'UTR	p.K428N	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	7	1421	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	428			DH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.1284G>C	CCDS170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.69|18.69	3.677682|3.677682	0.68042|0.68042	.|.	.|.	ENSG00000142632|ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607;ENST00000441785|ENST00000449495	T;T;T|.	0.63255|.	-0.03;-0.03;-0.03|.	4.85|4.85	2.95|2.95	0.34219|0.34219	Dbl homology (DH) domain (5);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.59569|0.59569	0.2203|0.2203	M|M	0.63843|0.63843	1.955|1.955	0.37142|0.37142	D|D	0.901745|0.901745	D|.	0.56521|.	0.976|.	D|.	0.64506|.	0.926|.	T|T	0.59542|0.59542	-0.7435|-0.7435	10|5	0.46703|.	T|.	0.11|.	.|.	7.034|7.034	0.24983|0.24983	0.0:0.7152:0.0:0.2848|0.0:0.7152:0.0:0.2848	.|.	428|.	Q8IW93|.	ARHGJ_HUMAN|.	N|T	428;428;428;111|117	ENSP00000270747:K428N;ENSP00000396001:K428N;ENSP00000414370:K111N|.	ENSP00000270747:K428N|.	K|R	-|-	3|2	2|0	ARHGEF19|ARHGEF19	16405276|16405276	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.177000|1.177000	0.31969|0.31969	0.474000|0.474000	0.27392|0.27392	0.555000|0.555000	0.69702|0.69702	AAG|AGA		0.637	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1		NM_153213		17	9	0	0	0	0.006122	0	17	9		
DHDDS	79947	broad.mit.edu	37	1	26772806	26772806	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:26772806G>A	ENST00000236342.7	+	5	416		c.e5-1		DHDDS_ENST00000427245.2_Splice_Site|DHDDS_ENST00000374185.3_Splice_Site|DHDDS_ENST00000525682.2_Splice_Site|DHDDS_ENST00000526219.1_Intron|DHDDS_ENST00000360009.2_Splice_Site			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCCCTGATCAGGGAGAAACTG	0.542																																						uc001bml.2		NaN																	0				breast(3)	3						c.e5-1		dehydrodolichyl diphosphate synthase isoform b							94.0	81.0	86.0					1																	26772806		2203	4300	6503	SO:0001630	splice_region_variant	79947						protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr1:26772806G>A	AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.324-1G>A	1.37:g.26772806G>A						DHDDS_uc001bmk.2_Splice_Site_p.K108_splice|DHDDS_uc001bmm.2_Splice_Site_p.K15_splice|DHDDS_uc001bmn.2_Intron|DHDDS_uc010ofd.1_Splice_Site_p.K108_splice	p.K108_splice	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)	5	445	+		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)						B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Splice_Site	SNP	ENST00000236342.7	37	c.324_splice	CCDS282.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438531	0.83885	.	.	ENSG00000117682	ENST00000374190;ENST00000374187;ENST00000374192;ENST00000427245;ENST00000525682;ENST00000236342;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000531312;ENST00000525165;ENST00000436153;ENST00000431933	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.583	0.95478	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHDDS	26645393	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.516000	0.98017	2.873000	0.98535	0.563000	0.77884	.		0.542	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1		NM_024887	Intron	13	61	0	0	0	0.001855	0	13	61		
EPB41	2035	broad.mit.edu	37	1	29438879	29438879	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:29438879G>C	ENST00000343067.4	+	19	2542		c.e19-1		EPB41_ENST00000356093.2_Splice_Site|EPB41_ENST00000347529.3_Splice_Site|EPB41_ENST00000373798.1_Splice_Site|EPB41_ENST00000373800.3_Splice_Site|EPB41_ENST00000460378.1_Splice_Site|EPB41_ENST00000349460.4_Splice_Site|EPB41_ENST00000398863.2_Splice_Site	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1						actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TTTGGTTCCAGACTGTAAAAG	0.373																																						uc001brm.1		NaN																	0				ovary(1)	1						c.e18-1		erythrocyte membrane protein band 4.1							124.0	114.0	117.0					1																	29438879		2203	4300	6503	SO:0001630	splice_region_variant	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29438879G>C	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.2416-1G>C	1.37:g.29438879G>C						EPB41_uc001brg.1_Splice_Site_p.T583_splice|EPB41_uc001brh.1_Splice_Site_p.T530_splice|EPB41_uc001bri.1_Splice_Site_p.T717_splice|EPB41_uc001brj.1_Splice_Site_p.T543_splice|EPB41_uc001brl.1_Splice_Site_p.T773_splice|EPB41_uc009vtl.1_Splice_Site_p.T500_splice|EPB41_uc009vtm.1_Splice_Site_p.T385_splice|EPB41_uc009vtn.1_Splice_Site	p.T806_splice	NM_203342	NP_976217	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	18	2423	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)						B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Splice_Site	SNP	ENST00000343067.4	37	c.2416_splice	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447411	0.84101	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4669	0.90758	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPB41	29311466	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.595000	0.98260	2.710000	0.92621	0.561000	0.74099	.		0.373	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1		NM_203342	Intron	35	95	0	0	0	0.005524	0	35	95		
SFPQ	6421	broad.mit.edu	37	1	35656103	35656103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:35656103G>A	ENST00000357214.5	-	4	1509	c.1411C>T	c.(1411-1413)Caa>Taa	p.Q471*		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	471					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCTTACTTTTGATACATTGGA	0.308			T	TFE3	papillary renal cell																																	uc001bys.2		NaN		Dom	yes		1	1p34.3	6421	T	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)			E	TFE3		papillary renal cell	SFPQ/TFE3(6)	0				kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8						c.(1411-1413)CAA>TAA		splicing factor proline/glutamine rich							69.0	69.0	69.0					1																	35656103		2203	4300	6503	SO:0001587	stop_gained	6421				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|protein binding|RNA binding	g.chr1:35656103G>A	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1411C>T	1.37:g.35656103G>A	ENSP00000349748:p.Gln471*					SFPQ_uc001byr.2_RNA	p.Q471*	NM_005066	NP_005057	P23246	SFPQ_HUMAN			4	1504	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	471					P30808|Q5SZ71	Nonsense_Mutation	SNP	ENST00000357214.5	37	c.1411C>T	CCDS388.1	.	.	.	.	.	.	.	.	.	.	G	40	8.225820	0.98714	.	.	ENSG00000116560	ENST00000357214	.	.	.	5.39	5.39	0.77823	.	0.207171	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.149	0.93481	0.0:0.0:1.0:0.0	.	.	.	.	X	471	.	ENSP00000349748:Q471X	Q	-	1	0	SFPQ	35428690	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.882000	0.87258	2.526000	0.85167	0.460000	0.39030	CAA		0.308	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4		NM_005066		14	12	0	0	0	0.00245	0	14	12		
KIAA0319L	79932	broad.mit.edu	37	1	35915495	35915495	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:35915495C>G	ENST00000325722.3	-	15	2560	c.2326G>C	c.(2326-2328)Gac>Cac	p.D776H	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.D213H|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	776	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D776N(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGGTCCGGTCTGTGTCACTC	0.483																																						uc001byx.2		NaN																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(2326-2328)GAC>CAC		dyslexia susceptibility 2-like							160.0	119.0	133.0					1																	35915495		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35915495C>G	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2326G>C	1.37:g.35915495C>G	ENSP00000318406:p.Asp776His					KIAA0319L_uc001byw.2_Missense_Mutation_p.D218H|KIAA0319L_uc010ohv.1_Missense_Mutation_p.D418H	p.D776H	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN			15	2584	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	776			PKD 5.|Extracellular (Potential).		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.2326G>C	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112628	0.77210	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	T;T;T	0.69685	2.53;-0.42;2.53	5.82	5.82	0.92795	PKD/Chitinase domain (1);PKD/REJ-like protein (1);PKD domain (2);	0.125722	0.64402	D	0.000001	D	0.82866	0.5130	M	0.80746	2.51	0.80722	D	1	D;D;D	0.71674	0.995;0.998;0.982	P;D;P	0.66847	0.874;0.947;0.74	D	0.84426	0.0574	10	0.87932	D	0	-15.9428	19.0872	0.93209	0.0:1.0:0.0:0.0	.	776;776;218	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	H	776;213;776	ENSP00000318406:D776H;ENSP00000362363:D213H;ENSP00000395883:D776H	ENSP00000318406:D776H	D	-	1	0	KIAA0319L	35688082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.744000	0.62118	2.752000	0.94435	0.655000	0.94253	GAC		0.483	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2		NM_024874		31	49	0	0	0	0.009535	0	31	49		
SLC2A1	6513	broad.mit.edu	37	1	43394663	43394663	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:43394663G>A	ENST00000426263.3	-	8	1192	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	338					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CGAGGCCTATGAGGTGCAGGG	0.622																																						uc001cik.2		NaN																	0				central_nervous_system(2)|pancreas(2)|ovary(1)	5						c.(1012-1014)CTC>CTT		solute carrier family 2 (facilitated glucose	Etomidate(DB00292)						111.0	106.0	108.0					1																	43394663		2203	4300	6503	SO:0001819	synonymous_variant	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43394663G>A	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.1014C>T	1.37:g.43394663G>A							p.L338L	NM_006516	NP_006507	P11166	GTR1_HUMAN			8	1539	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	338			Helical; Name=9; (Potential).		A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Silent	SNP	ENST00000426263.3	37	c.1014C>T	CCDS477.1																																																																																				0.622	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2		NM_006516		50	120	0	0	0	0.01441	0	50	120		
ELAVL4	1996	broad.mit.edu	37	1	50642818	50642818	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:50642818C>T	ENST00000371823.4	+	3	532	c.308C>T	c.(307-309)gCc>gTc	p.A103V	RP11-567C20.2_ENST00000442477.1_RNA|ELAVL4_ENST00000371827.1_Missense_Mutation_p.A103V|ELAVL4_ENST00000371819.1_Missense_Mutation_p.A108V|ELAVL4_ENST00000371824.1_Missense_Mutation_p.A103V|ELAVL4_ENST00000448907.2_Missense_Mutation_p.A106V|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000357083.4_Missense_Mutation_p.A120V|ELAVL4_ENST00000371821.1_Missense_Mutation_p.A108V	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	103	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCAGAGAAAGCCATCAACACT	0.408																																						uc001csb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(307-309)GCC>GTC		ELAV-like 4 isoform 1							105.0	97.0	100.0					1																	50642818		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50642818C>T	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.308C>T	1.37:g.50642818C>T	ENSP00000360888:p.Ala103Val					ELAVL4_uc001cry.3_Missense_Mutation_p.A106V|ELAVL4_uc001crz.3_Missense_Mutation_p.A103V|ELAVL4_uc001csa.3_Missense_Mutation_p.A120V|ELAVL4_uc001csc.3_Missense_Mutation_p.A103V|ELAVL4_uc009vyu.2_Missense_Mutation_p.A108V|ELAVL4_uc010omz.1_Missense_Mutation_p.A108V	p.A103V	NM_021952	NP_068771	P26378	ELAV4_HUMAN			3	576	+			103			RRM 1.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.308C>T	CCDS553.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685237	0.88639	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.82273	0.5001	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.996;1.0;0.999;0.993;0.998;0.992;0.996	P;D;D;P;P;P;P	0.77557	0.9;0.99;0.94;0.719;0.849;0.839;0.9	D	0.84223	0.0462	10	0.87932	D	0	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	108;108;103;103;120;103;106	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	V	106;103;120;103;103;108;108	ENSP00000399939:A106V;ENSP00000360892:A103V;ENSP00000349594:A120V;ENSP00000360889:A103V;ENSP00000360888:A103V;ENSP00000360886:A108V;ENSP00000360884:A108V	ENSP00000349594:A120V	A	+	2	0	ELAVL4	50415405	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.861000	0.98227	0.655000	0.94253	GCC		0.408	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1		NM_021952		19	47	0	0	0	0.010504	0	19	47		
C1orf177	163747	broad.mit.edu	37	1	55277826	55277826	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:55277826G>C	ENST00000371273.3	+	6	741	c.726G>C	c.(724-726)cgG>cgC	p.R242R	C1orf177_ENST00000358193.3_Silent_p.R242R	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	242										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CTGGTGATCGGAGCAAGCCAC	0.577																																						uc001cyb.3		NaN																	0					0						c.(724-726)CGG>CGC		hypothetical protein LOC163747 isoform 2							78.0	66.0	70.0					1																	55277826		2203	4300	6503	SO:0001819	synonymous_variant	163747							g.chr1:55277826G>C	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.726G>C	1.37:g.55277826G>C						C1orf177_uc001cya.3_Silent_p.R242R	p.R242R	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN			6	780	+			242					B7WPL2|Q8N7Y9	Silent	SNP	ENST00000371273.3	37	c.726G>C	CCDS44153.1																																																																																				0.577	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1		NM_152607		24	49	0	0	0	0.004656	0	24	49		
TYW3	127253	broad.mit.edu	37	1	75229767	75229767	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:75229767C>G	ENST00000370867.3	+	6	839	c.750C>G	c.(748-750)atC>atG	p.I250M	TYW3_ENST00000479111.1_Missense_Mutation_p.I130M|TYW3_ENST00000457880.2_Missense_Mutation_p.I217M|TYW3_ENST00000421739.2_Missense_Mutation_p.I166M|TYW3_ENST00000467646.1_3'UTR	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	250					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						ATCTAGGAATCAATGTTACCA	0.348																																						uc001dgn.2		NaN																	0				ovary(2)	2						c.(748-750)ATC>ATG		tRNA-yW synthesizing protein 3 homolog isoform							117.0	123.0	121.0					1																	75229767		2203	4300	6503	SO:0001583	missense	127253				tRNA processing		methyltransferase activity	g.chr1:75229767C>G	BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.750C>G	1.37:g.75229767C>G	ENSP00000359904:p.Ile250Met					TYW3_uc010oqw.1_Missense_Mutation_p.I217M|TYW3_uc010oqx.1_Missense_Mutation_p.I166M|TYW3_uc010oqy.1_RNA	p.I250M	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN			6	839	+			250					B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	ENST00000370867.3	37	c.750C>G	CCDS666.1	.	.	.	.	.	.	.	.	.	.	C	9.839	1.190425	0.21954	.	.	ENSG00000162623	ENST00000457880;ENST00000370867;ENST00000421739	T;T	0.49432	0.78;1.39	5.3	2.31	0.28768	.	0.657590	0.16085	N	0.230315	T	0.18173	0.0436	L	0.43152	1.355	0.09310	N	1	B;B;B	0.25667	0.131;0.034;0.034	B;B;B	0.21546	0.035;0.01;0.01	T	0.14476	-1.0471	10	0.44086	T	0.13	-0.7365	7.608	0.28113	0.0:0.5981:0.3153:0.0867	.	166;217;250	B4DFU6;E9PGR7;Q6IPR3	.;.;TYW3_HUMAN	M	217;250;166	ENSP00000407025:I217M;ENSP00000359904:I250M	ENSP00000359904:I250M	I	+	3	3	TYW3	75002355	0.299000	0.24426	0.023000	0.16930	0.003000	0.03518	0.888000	0.28268	0.765000	0.33221	0.655000	0.94253	ATC		0.348	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1		NM_138467		16	178	0	0	0	0.007413	0	16	178		
AGL	178	broad.mit.edu	37	1	100349714	100349714	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:100349714G>C	ENST00000294724.4	+	18	2825	c.2347G>C	c.(2347-2349)Gag>Cag	p.E783Q	AGL_ENST00000361915.3_Missense_Mutation_p.E783Q|AGL_ENST00000370163.3_Missense_Mutation_p.E783Q|AGL_ENST00000361302.3_Missense_Mutation_p.E767Q|AGL_ENST00000361522.4_Missense_Mutation_p.E766Q|AGL_ENST00000370161.2_Missense_Mutation_p.E767Q|AGL_ENST00000370165.3_Missense_Mutation_p.E783Q	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	783					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAGAACTATTGAGAGAAACAC	0.328																																						uc001dsi.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2347-2349)GAG>CAG		amylo-1,6-glucosidase,							102.0	108.0	106.0					1																	100349714		2203	4298	6501	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100349714G>C	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2347G>C	1.37:g.100349714G>C	ENSP00000294724:p.Glu783Gln					AGL_uc001dsj.1_Missense_Mutation_p.E783Q|AGL_uc001dsk.1_Missense_Mutation_p.E783Q|AGL_uc001dsl.1_Missense_Mutation_p.E783Q|AGL_uc001dsm.1_Missense_Mutation_p.E767Q|AGL_uc001dsn.1_Missense_Mutation_p.E766Q	p.E783Q	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	18	2747	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	783			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.2347G>C	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864488	0.51482	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.19604	0.0471	L	0.40543	1.245	0.80722	D	1	B;B;B	0.24483	0.104;0.104;0.063	B;B;B	0.33846	0.171;0.171;0.05	T	0.07481	-1.0770	10	0.18276	T	0.48	.	20.0425	0.97596	0.0:0.0:1.0:0.0	.	766;767;783	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	Q	783;783;783;783;767;767;766	ENSP00000355106:E783Q;ENSP00000359184:E783Q;ENSP00000359182:E783Q;ENSP00000294724:E783Q;ENSP00000354971:E767Q;ENSP00000359180:E767Q;ENSP00000354635:E766Q	ENSP00000294724:E783Q	E	+	1	0	AGL	100122302	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.135000	0.94478	2.745000	0.94114	0.650000	0.86243	GAG		0.328	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1		NM_000028		41	36	0	0	0	0.007835	0	41	36		
TRMT13	54482	broad.mit.edu	37	1	100613733	100613733	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:100613733G>C	ENST00000370141.2	+	10	1107	c.1101G>C	c.(1099-1101)atG>atC	p.M367I		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	367					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										TCCAGCGAATGAGTAGTTGGG	0.433																																						uc001dsv.2		NaN																	0				ovary(1)	1						c.(1099-1101)ATG>ATC		coiled-coil domain containing 76							112.0	104.0	107.0					1																	100613733		2203	4300	6503	SO:0001583	missense	54482				tRNA processing		metal ion binding|methyltransferase activity	g.chr1:100613733G>C	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.1101G>C	1.37:g.100613733G>C	ENSP00000359160:p.Met367Ile					CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Intron	p.M367I	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)	10	1120	+		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	367					Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.1101G>C	CCDS765.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315933	0.81469	.	.	ENSG00000122435	ENST00000370141	T	0.42131	0.98	5.75	5.75	0.90469	Methyltransferase TRM13 (1);	0.036747	0.85682	D	0.000000	T	0.36303	0.0962	L	0.48260	1.515	0.80722	D	1	P	0.46859	0.885	P	0.48770	0.589	T	0.02533	-1.1145	10	0.20519	T	0.43	-22.3638	19.9525	0.97208	0.0:0.0:1.0:0.0	.	367	Q9NUP7	TRM13_HUMAN	I	367	ENSP00000359160:M367I	ENSP00000359160:M367I	M	+	3	0	CCDC76	100386321	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.721000	0.91446	2.719000	0.93026	0.655000	0.94253	ATG		0.433	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1		NM_019083		44	48	0	0	0	0.011902	0	44	48		
AMY2A	279	broad.mit.edu	37	1	104160108	104160108	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:104160108C>T	ENST00000414303.2	+	1	110	c.46C>T	c.(46-48)Cag>Tag	p.Q16*		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	16					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	CTGCTGGGCTCAGTATTCCCC	0.398																																						uc001dut.2		NaN																	0				ovary(1)|skin(1)	2						c.(46-48)CAG>TAG		pancreatic amylase alpha 2A precursor	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)						94.0	79.0	84.0					1																	104160108		2200	4258	6458	SO:0001587	stop_gained	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160108C>T	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.46C>T	1.37:g.104160108C>T	ENSP00000397582:p.Gln16*					AMY2A_uc010ouq.1_Nonsense_Mutation_p.Q16*	p.Q16*	NM_000699	NP_000690	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	1	110	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	16					B9EJG1|Q9UBH3	Nonsense_Mutation	SNP	ENST00000414303.2	37	c.46C>T	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.89|16.89	3.247055|3.247055	0.59103|0.59103	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000414303;ENST00000393932|ENST00000423678	.|.	.|.	.|.	3.22|3.22	3.22|3.22	0.36961|0.36961	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.52008	.|0.1708	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54728	.|-0.8250	.|3	0.87932|.	D|.	0|.	.|.	14.5293|14.5293	0.67912|0.67912	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	16|14	.|.	ENSP00000377509:Q16X|.	Q|S	+|+	1|2	0|0	AMY2A|AMY2A	103961631|103961631	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.209000|0.209000	0.24338|0.24338	7.061000|7.061000	0.76699|0.76699	1.784000|1.784000	0.52394|0.52394	0.455000|0.455000	0.32223|0.32223	CAG|TCA		0.398	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1		NM_000699		40	160	0	0	0	0.01441	0	40	160		
OVGP1	5016	broad.mit.edu	37	1	111966266	111966266	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:111966266G>A	ENST00000369732.3	-	5	437	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	OVGP1_ENST00000481495.1_5'Flank|OVGP1_ENST00000540696.1_Silent_p.L68L	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	128					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TGTGTCCTCAGAAGGGATATA	0.433																																						uc001eba.2		NaN																	0				ovary(4)|large_intestine(1)	5						c.(382-384)CTG>TTG		oviductal glycoprotein 1 precursor							124.0	108.0	113.0					1																	111966266		2203	4300	6503	SO:0001819	synonymous_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111966266G>A	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.382C>T	1.37:g.111966266G>A						OVGP1_uc001eaz.2_Silent_p.L90L|OVGP1_uc010owb.1_5'UTR|OVGP1_uc010owc.1_Silent_p.L118L	p.L128L	NM_002557	NP_002548	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	5	438	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	128					A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	c.382C>T	CCDS834.1																																																																																				0.433	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1		NM_002557		47	48	0	0	0	0.013114	0	47	48		
ADAM30	11085	broad.mit.edu	37	1	120437228	120437228	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:120437228G>C	ENST00000369400.1	-	1	1890	c.1732C>G	c.(1732-1734)Cat>Gat	p.H578D		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	578	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCCTGTAAATGAGTAGAAATT	0.408																																						uc001eij.2		NaN																	0				ovary(2)|lung(1)	3						c.(1732-1734)CAT>GAT		ADAM metallopeptidase domain 30 preproprotein							112.0	111.0	111.0					1																	120437228		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437228G>C	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1732C>G	1.37:g.120437228G>C	ENSP00000358407:p.His578Asp						p.H578D	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	1886	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	578			Cys-rich.|Extracellular (Potential).		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.1732C>G	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496311	0.26861	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.21031	2.03	5.38	1.28	0.21552	ADAM, cysteine-rich (2);	0.287848	0.24597	N	0.037173	T	0.13798	0.0334	M	0.82823	2.61	0.09310	N	1	P	0.43701	0.815	B	0.43194	0.411	T	0.07177	-1.0786	10	0.72032	D	0.01	.	7.2206	0.25985	0.3821:0.0:0.6179:0.0	.	578	Q9UKF2	ADA30_HUMAN	D	578	ENSP00000358407:H578D	ENSP00000358407:H578D	H	-	1	0	ADAM30	120238751	0.007000	0.16637	0.001000	0.08648	0.009000	0.06853	0.175000	0.16762	0.074000	0.16767	-0.136000	0.14681	CAT		0.408	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1		NM_021794		76	79	0	0	0	0.01441	0	76	79		
GPR89A	653519	broad.mit.edu	37	1	145771670	145771670	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:145771670C>T	ENST00000313835.9	-	11	1113	c.970G>A	c.(970-972)Gag>Aag	p.E324K	GPR89A_ENST00000478703.1_5'UTR|GPR89A_ENST00000462900.2_Missense_Mutation_p.E299K|GPR89A_ENST00000454423.3_Missense_Mutation_p.E204K|GPR89A_ENST00000534502.1_Missense_Mutation_p.E299K			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	324					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			ACAGTGATCTCAATGCCTCTT	0.363																																						uc001eot.2		NaN																	0					0						c.(970-972)GAG>AAG		G protein-coupled receptor 89A isoform 1							86.0	92.0	90.0					1																	145771670		2202	4279	6481	SO:0001583	missense	653519				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity	g.chr1:145771670C>T	AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.970G>A	1.37:g.145771670C>T	ENSP00000319673:p.Glu324Lys					NBPF10_uc001emp.3_Intron|GPR89A_uc001eop.2_Missense_Mutation_p.E22K|GPR89A_uc001eoq.2_RNA|GPR89A_uc001eor.2_Missense_Mutation_p.E248K|GPR89A_uc010ozb.1_Missense_Mutation_p.E299K|GPR89A_uc001eos.2_Missense_Mutation_p.E204K|GPR89A_uc010ozc.1_Missense_Mutation_p.E299K|GPR89A_uc010ozd.1_Missense_Mutation_p.E271K|GPR89A_uc010oze.1_Missense_Mutation_p.E324K	p.E324K	NM_001097612	NP_001091081	B7ZAQ6	GPHRA_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		11	1144	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		324					A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Missense_Mutation	SNP	ENST00000313835.9	37	c.970G>A	CCDS41377.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986505	0.93044	.	.	ENSG00000117262	ENST00000313835;ENST00000454423;ENST00000534502;ENST00000462900	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	M	0.85197	2.74	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67103	0.949;0.949	T	0.71358	-0.4617	9	0.16420	T	0.52	-17.6869	16.1462	0.81575	0.0:1.0:0.0:0.0	.	324;324	P0CG08;B7ZAQ6	GPHRB_HUMAN;GPHRA_HUMAN	K	324;204;299;299	.	ENSP00000319673:E324K	E	-	1	0	GPR89A	144483027	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.715000	0.84713	2.495000	0.84180	0.305000	0.20034	GAG		0.363	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038507.2		NM_001097612		24	72	0	0	0	0.003755	0	24	72		
GPR89A	653519	broad.mit.edu	37	1	145771715	145771715	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:145771715C>G	ENST00000313835.9	-	11	1068	c.925G>C	c.(925-927)Gtt>Ctt	p.V309L	GPR89A_ENST00000478703.1_5'UTR|GPR89A_ENST00000462900.2_Missense_Mutation_p.V284L|GPR89A_ENST00000454423.3_Missense_Mutation_p.V189L|GPR89A_ENST00000534502.1_Missense_Mutation_p.V284L			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	309					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CGATCAAAAACAATATTGATG	0.353																																						uc001eot.2		NaN																	0					0						c.(925-927)GTT>CTT		G protein-coupled receptor 89A isoform 1							53.0	55.0	54.0					1																	145771715		2184	4271	6455	SO:0001583	missense	653519				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity	g.chr1:145771715C>G	AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.925G>C	1.37:g.145771715C>G	ENSP00000319673:p.Val309Leu					NBPF10_uc001emp.3_Intron|GPR89A_uc001eop.2_Missense_Mutation_p.V7L|GPR89A_uc001eoq.2_RNA|GPR89A_uc001eor.2_Missense_Mutation_p.V233L|GPR89A_uc010ozb.1_Missense_Mutation_p.V284L|GPR89A_uc001eos.2_Missense_Mutation_p.V189L|GPR89A_uc010ozc.1_Missense_Mutation_p.V284L|GPR89A_uc010ozd.1_Missense_Mutation_p.V256L|GPR89A_uc010oze.1_Missense_Mutation_p.V309L	p.V309L	NM_001097612	NP_001091081	B7ZAQ6	GPHRA_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		11	1099	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		309			Helical; (Potential).		A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Missense_Mutation	SNP	ENST00000313835.9	37	c.925G>C	CCDS41377.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099327	0.56183	.	.	ENSG00000117262	ENST00000313835;ENST00000454423;ENST00000534502;ENST00000462900	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.34861	0.0912	L	0.43598	1.365	0.80722	D	1	B;B	0.33345	0.409;0.409	B;B	0.33620	0.167;0.167	T	0.21621	-1.0240	9	0.15499	T	0.54	-21.9544	16.1462	0.81575	0.0:1.0:0.0:0.0	.	309;309	P0CG08;B7ZAQ6	GPHRB_HUMAN;GPHRA_HUMAN	L	309;189;284;284	.	ENSP00000319673:V309L	V	-	1	0	GPR89A	144483072	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	5.987000	0.70571	2.495000	0.84180	0.305000	0.20034	GTT		0.353	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038507.2		NM_001097612		21	60	0	0	0	0.005443	0	21	60		
ARNT	405	broad.mit.edu	37	1	150795814	150795814	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:150795814T>C	ENST00000358595.5	-	14	1450	c.1250A>G	c.(1249-1251)aAa>aGa	p.K417R	ARNT_ENST00000505755.1_Missense_Mutation_p.K402R|ARNT_ENST00000354396.2_Missense_Mutation_p.K417R|ARNT_ENST00000515192.1_Missense_Mutation_p.K403R	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	417	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCTTTTAATTTCACTACCTG	0.368			T	ETV6	AML																																	uc001evr.1		NaN		Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				skin(4)|lung(3)|central_nervous_system(1)|kidney(1)	9						c.(1249-1251)AAA>AGA		aryl hydrocarbon receptor nuclear translocator							113.0	114.0	114.0					1																	150795814		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150795814T>C	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1250A>G	1.37:g.150795814T>C	ENSP00000351407:p.Lys417Arg					ARNT_uc001evs.1_Missense_Mutation_p.K402R|ARNT_uc009wmb.1_Missense_Mutation_p.K403R|ARNT_uc009wmc.1_Missense_Mutation_p.K417R|ARNT_uc009wmd.1_Missense_Mutation_p.K402R|ARNT_uc009wme.1_Intron|ARNT_uc010pcl.1_Missense_Mutation_p.K401R	p.K417R	NM_001668	NP_001659	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		14	1393	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		417			PAS 2.		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.1250A>G	CCDS970.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.988380	0.93106	.	.	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.93	5.93	0.95920	PAS fold-3 (1);PAS (3);	0.044040	0.85682	D	0.000000	T	0.30541	0.0768	L	0.58354	1.805	0.80722	D	1	D;D;D;D;D;D	0.89917	0.989;0.998;0.994;0.987;1.0;0.989	D;D;D;D;D;D	0.91635	0.997;0.999;0.982;0.984;0.995;0.997	T	0.02391	-1.1166	10	0.56958	D	0.05	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	401;402;417;403;402;417	B4E3L5;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;ARNT_HUMAN	R	417;417;403;401;402	ENSP00000351407:K417R;ENSP00000346372:K417R;ENSP00000423851:K403R;ENSP00000427571:K402R	ENSP00000346372:K417R	K	-	2	0	ARNT	149062438	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.270000	0.75569	0.482000	0.46254	AAA		0.368	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2				69	61	0	0	0	0.01441	0	69	61		
C1orf56	54964	broad.mit.edu	37	1	151022921	151022921	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:151022921G>A	ENST00000368926.5	+	2	1121	c.1013G>A	c.(1012-1014)aGa>aAa	p.R338K	CDC42SE1_ENST00000492796.1_5'Flank|C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	338						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|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)			CAGATAGACAGAAACCAGAGG	0.413																																					GBM(146;891 3320 6873)	uc001ewn.2		NaN																	0					0						c.(1012-1014)AGA>AAA		hypothetical protein LOC54964 precursor							184.0	191.0	189.0					1																	151022921		2203	4300	6503	SO:0001583	missense	54964					extracellular region		g.chr1:151022921G>A	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.1013G>A	1.37:g.151022921G>A	ENSP00000357922:p.Arg338Lys						p.R338K	NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	1078	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		338					B2RDU8|Q9NWZ4	Missense_Mutation	SNP	ENST00000368926.5	37	c.1013G>A	CCDS980.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298468	0.23650	.	.	ENSG00000143443	ENST00000368926	.	.	.	5.29	-0.163	0.13363	.	.	.	.	.	T	0.10423	0.0255	L	0.29908	0.895	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.30327	-0.9982	8	0.41790	T	0.15	-6.1779	3.8304	0.08871	0.3869:0.0:0.4509:0.1622	.	338	Q9BUN1	CA056_HUMAN	K	338	.	ENSP00000357922:R338K	R	+	2	0	C1orf56	149289545	0.699000	0.27786	0.016000	0.15963	0.993000	0.82548	0.480000	0.22244	0.049000	0.15920	0.561000	0.74099	AGA		0.413	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1		NM_017860		34	133	0	0	0	0.004878	0	34	133		
FLG	2312	broad.mit.edu	37	1	152276031	152276031	+	Silent	SNP	C	C	T	rs147295587	byFrequency	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:152276031C>T	ENST00000368799.1	-	3	11366	c.11331G>A	c.(11329-11331)tcG>tcA	p.S3777S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3777	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTATCTACCGATTGCTCGT	0.587									Ichthyosis				T|||	2	0.000399361	0.0	0.0	5008	,	,		20646	0.002		0.0	False		,,,				2504	0.0					uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11329-11331)TCG>TCA		filaggrin							369.0	355.0	360.0					1																	152276031		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276031C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11331G>A	1.37:g.152276031C>T							p.S3777S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11367	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3777			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11331G>A	CCDS30860.1																																																																																				0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		140	467	0	0	0	0.01441	0	140	467		
FLG	2312	broad.mit.edu	37	1	152277865	152277865	+	Missense_Mutation	SNP	C	C	T	rs145566935	byFrequency	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:152277865C>T	ENST00000368799.1	-	3	9532	c.9497G>A	c.(9496-9498)cGt>cAt	p.R3166H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3166	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCATTACGTGTTGTTCT	0.552									Ichthyosis				C|||	3	0.000599042	0.0023	0.0	5008	,	,		19222	0.0		0.0	False		,,,				2504	0.0					uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(9496-9498)CGT>CAT		filaggrin							259.0	260.0	259.0					1																	152277865		2201	4300	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277865C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9497G>A	1.37:g.152277865C>T	ENSP00000357789:p.Arg3166His						p.R3166H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9533	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3166			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9497G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.167	0.790751	0.16258	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.22	-2.89	0.05665	.	.	.	.	.	T	0.00666	0.0022	L	0.49350	1.555	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.39781	-0.9597	9	0.44086	T	0.13	.	7.0931	0.25295	0.0:0.5636:0.2617:0.1747	.	3166	P20930	FILA_HUMAN	H	3166	ENSP00000357789:R3166H	ENSP00000357789:R3166H	R	-	2	0	FLG	150544489	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.537000	0.06128	-0.706000	0.05028	-1.644000	0.00765	CGT		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		103	360	0	0	0	0.01441	0	103	360		
CRTC2	200186	broad.mit.edu	37	1	153920995	153920995	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:153920995G>A	ENST00000368633.1	-	13	1927	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	DENND4B_ENST00000361217.4_5'Flank|CRTC2_ENST00000368630.3_Silent_p.F280F	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	600					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)			TCTGGTGGTTGAAGGTGTGGG	0.592																																						uc010ped.1		NaN																	0				ovary(2)	2						c.(1798-1800)TTC>TTT		CREB regulated transcription coactivator 2							134.0	122.0	126.0					1																	153920995		2203	4300	6503	SO:0001819	synonymous_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153920995G>A	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.1800C>T	1.37:g.153920995G>A						DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Silent_p.F136F	p.F600F	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		13	1870	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		600					Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP	ENST00000368633.1	37	c.1800C>T	CCDS30875.1																																																																																				0.592	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3		NM_181715		116	109	0	0	0	0.01441	0	116	109		
INSRR	3645	broad.mit.edu	37	1	156823546	156823546	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:156823546C>G	ENST00000368195.3	-	2	1031	c.635G>C	c.(634-636)aGa>aCa	p.R212T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	212					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGCCCACCTCTCTGGCAGTG	0.607																																						uc010pht.1		NaN																	0				lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(634-636)AGA>ACA		insulin receptor-related receptor precursor							47.0	46.0	47.0					1																	156823546		2203	4293	6496	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156823546C>G	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.635G>C	1.37:g.156823546C>G	ENSP00000357178:p.Arg212Thr					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.R212T	p.R212T	NM_014215	NP_055030	P14616	INSRR_HUMAN			2	889	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		212					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.635G>C	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864698	0.32977	.	.	ENSG00000027644	ENST00000368195	T	0.28255	1.62	5.3	2.37	0.29283	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.257224	0.27491	N	0.019139	T	0.08223	0.0205	.	.	.	0.28316	N	0.922454	B	0.12013	0.005	B	0.12837	0.008	T	0.27806	-1.0063	9	0.41790	T	0.15	.	7.588	0.28004	0.0:0.6545:0.0:0.3455	.	212	P14616	INSRR_HUMAN	T	212	ENSP00000357178:R212T	ENSP00000357178:R212T	R	-	2	0	INSRR	155090170	0.139000	0.22563	0.997000	0.53966	0.992000	0.81027	-0.537000	0.06128	0.226000	0.20979	0.557000	0.71058	AGA		0.607	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1		NM_014215		35	132	0	0	0	0.00874	0	35	132		
CRP	1401	broad.mit.edu	37	1	159683510	159683510	+	Silent	SNP	G	G	A	rs374947007		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:159683510G>A	ENST00000255030.5	-	2	583	c.480C>T	c.(478-480)ttC>ttT	p.F160F	CRP_ENST00000473196.1_5'UTR|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000368111.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000368112.1_Intron|CRP_ENST00000343919.2_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	160	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)	AGTTCCCACCGAAGGAATCCT	0.517																																						uc001ftw.2		NaN																	0				ovary(1)	1						c.(478-480)TTC>TTT		C-reactive protein, pentraxin-related precursor	Atorvastatin(DB01076)|Bezafibrate(DB01393)						223.0	222.0	222.0					1																	159683510		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.chr1:159683510G>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.480C>T	1.37:g.159683510G>A						CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA	p.F160F	NM_000567	NP_000558	P02741	CRP_HUMAN			2	584	-	all_hematologic(112;0.0429)		160			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Silent	SNP	ENST00000255030.5	37	c.480C>T	CCDS30911.1																																																																																				0.517	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1		NM_000567		116	250	0	0	0	0.01441	0	116	250		
CCDC181	57821	broad.mit.edu	37	1	169394120	169394120	+	Missense_Mutation	SNP	C	C	T	rs375735868		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:169394120C>T	ENST00000367806.3	-	2	198	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	CCDC181_ENST00000367805.3_Missense_Mutation_p.E16K|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Missense_Mutation_p.E16K	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	16						nucleus (GO:0005634)											AAGTCATCTTCGTATTCTTCA	0.289													C|||	1	0.000199681	0.0	0.0	5008	,	,		16359	0.0		0.001	False		,,,				2504	0.0					uc001gga.1		NaN																	0					0						c.(46-48)GAA>AAA		hypothetical protein LOC57821		C	LYS/GLU	0,4404		0,0,2202	152.0	145.0	147.0		46	5.7	1.0	1		147	1,8593	1.2+/-3.3	0,1,4296	no	missense	C1orf114	NM_021179.1	56	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	16/509	169394120	1,12997	2202	4297	6499	SO:0001583	missense	57821							g.chr1:169394120C>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.46G>A	1.37:g.169394120C>T	ENSP00000356780:p.Glu16Lys					C1orf114_uc001gfz.1_Missense_Mutation_p.E16K|C1orf114_uc009wvq.1_Missense_Mutation_p.E16K|C1orf114_uc001ggb.2_Missense_Mutation_p.E16K|C1orf114_uc001ggc.1_Missense_Mutation_p.E16K	p.E16K	NM_021179	NP_067002	Q5TID7	CA114_HUMAN			2	214	-	all_hematologic(923;0.208)		16					O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.46G>A		.	.	.	.	.	.	.	.	.	.	C	29.6	5.022841	0.93462	0.0	1.16E-4	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.38887	1.5;1.5;1.5;1.11	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	M	0.73598	2.24	0.43010	D	0.994540	D;D;D	0.89917	1.0;0.99;0.99	D;P;P	0.87578	0.998;0.867;0.867	T	0.64841	-0.6312	9	0.87932	D	0	-23.4675	19.3348	0.94312	0.0:1.0:0.0:0.0	.	16;16;16	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	K	16	ENSP00000356779:E16K;ENSP00000356780:E16K;ENSP00000442297:E16K;ENSP00000411000:E16K	ENSP00000356779:E16K	E	-	1	0	C1orf114	167660744	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.085000	0.71343	2.665000	0.90641	0.561000	0.74099	GAA		0.289	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1		NM_021179		17	43	0	0	0	0.008871	0	17	43		
F5	2153	broad.mit.edu	37	1	169511937	169511937	+	Silent	SNP	G	G	C	rs139113111		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:169511937G>C	ENST00000367797.3	-	13	2592	c.2391C>G	c.(2389-2391)gcC>gcG	p.A797A	F5_ENST00000367796.3_Silent_p.A802A	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	797	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGTGAGAAGGGGCTTTCTGAG	0.433																																						uc001ggg.1		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2389-2391)GCC>GCG		coagulation factor V precursor	Drotrecogin alfa(DB00055)						173.0	171.0	172.0					1																	169511937		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511937G>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2391C>G	1.37:g.169511937G>C							p.A797A	NM_000130	NP_000121	P12259	FA5_HUMAN			13	2536	-	all_hematologic(923;0.208)		797			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.2391C>G	CCDS1281.1																																																																																				0.433	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		NM_000130		41	114	0	0	0	0.00874	0	41	114		
LAMC1	3915	broad.mit.edu	37	1	183096378	183096378	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:183096378G>A	ENST00000258341.4	+	17	3219	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	988	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CTGTCATCCTGAGGGATCTCT	0.393																																						uc001gpy.3		NaN																	0				ovary(3)|large_intestine(1)|kidney(1)	5						c.(2962-2964)GAG>AAG		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						95.0	82.0	87.0					1																	183096378		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183096378G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2962G>A	1.37:g.183096378G>A	ENSP00000258341:p.Glu988Lys						p.E988K	NM_002293	NP_002284	P11047	LAMC1_HUMAN			17	3219	+			988			Laminin EGF-like 11.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.2962G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149425	0.57151	.	.	ENSG00000135862	ENST00000258341	T	0.34667	1.35	5.5	5.5	0.81552	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.43211	0.1237	L	0.49513	1.565	0.80722	D	1	D	0.54964	0.969	P	0.52309	0.695	T	0.20405	-1.0276	10	0.06494	T	0.89	.	19.3932	0.94594	0.0:0.0:1.0:0.0	.	988	P11047	LAMC1_HUMAN	K	988	ENSP00000258341:E988K	ENSP00000258341:E988K	E	+	1	0	LAMC1	181363001	1.000000	0.71417	0.994000	0.49952	0.935000	0.57460	7.076000	0.76806	2.582000	0.87167	0.561000	0.74099	GAG		0.393	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2		NM_002293		13	36	0	0	0	0.001855	0	13	36		
CNTN2	6900	broad.mit.edu	37	1	205042279	205042279	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:205042279C>T	ENST00000331830.4	+	22	3212	c.2928C>T	c.(2926-2928)gaC>gaT	p.D976D		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	976	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCCTGAAGACATTGGCCATG	0.567																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.2		NaN																	0				ovary(1)	1						c.(2926-2928)GAC>GAT		contactin 2 precursor							86.0	78.0	80.0					1																	205042279		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205042279C>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2928C>T	1.37:g.205042279C>T						CNTN2_uc001hbs.2_Silent_p.D764D	p.D976D	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		22	3197	+	all_cancers(21;0.144)|Breast(84;0.0437)		976			Fibronectin type-III 4.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.2928C>T	CCDS1449.1																																																																																				0.567	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3		NM_005076		30	40	0	0	0	0.008361	0	30	40		
RAB3GAP2	25782	broad.mit.edu	37	1	220364531	220364531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:220364531G>A	ENST00000358951.2	-	14	1482	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	456					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTTGGACCCTGAGAATTTCCA	0.478																																						uc010puk.1		NaN																	0				central_nervous_system(1)	1						c.(1366-1368)CAG>TAG		rab3 GTPase-activating protein, non-catalytic							94.0	93.0	93.0					1																	220364531		2203	4300	6503	SO:0001587	stop_gained	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220364531G>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1366C>T	1.37:g.220364531G>A	ENSP00000351832:p.Gln456*					RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Nonsense_Mutation_p.Q36*	p.Q456*	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	14	1530	-			456					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Nonsense_Mutation	SNP	ENST00000358951.2	37	c.1366C>T	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	G	37	6.469545	0.97594	.	.	ENSG00000118873	ENST00000358951	.	.	.	5.65	5.65	0.86999	.	0.234008	0.45361	D	0.000378	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	14.5469	0.68038	0.0:0.0:0.8536:0.1464	.	.	.	.	X	456	.	ENSP00000351832:Q456X	Q	-	1	0	RAB3GAP2	218431154	1.000000	0.71417	0.961000	0.40146	0.962000	0.63368	4.851000	0.62896	2.670000	0.90874	0.563000	0.77884	CAG		0.478	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2		NM_012414		28	51	0	0	0	0.00632	0	28	51		
KIAA1804	84451	broad.mit.edu	37	1	233489599	233489599	+	Missense_Mutation	SNP	C	C	T	rs145103476		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:233489599C>T	ENST00000366624.3	+	3	1294	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	MLK4_ENST00000366623.3_Missense_Mutation_p.R345W	NM_032435.2	NP_115811.2																					AGTCCCCTATCGGGGCATTGA	0.507																																						uc001hvt.3		NaN																	0				lung(5)|central_nervous_system(2)|skin(1)	8						c.(1033-1035)CGG>TGG		mixed lineage kinase 4		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	103.0	98.0	100.0		1033	4.9	0.8	1	dbSNP_134	100	0,8600		0,0,4300	no	missense	KIAA1804	NM_032435.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	345/1037	233489599	1,13005	2203	4300	6503	SO:0001583	missense	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233489599C>T																												ENST00000366624.3:c.1033C>T	1.37:g.233489599C>T	ENSP00000355583:p.Arg345Trp					KIAA1804_uc001hvs.1_Missense_Mutation_p.R345W	p.R345W	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			3	1294	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	345			Protein kinase.			Missense_Mutation	SNP	ENST00000366624.3	37	c.1033C>T	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035511	0.93630	2.27E-4	0.0	ENSG00000143674	ENST00000366623;ENST00000366624	D;D	0.82984	-1.67;-1.67	4.91	4.91	0.64330	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88306	0.6401	L	0.42581	1.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.978	D	0.89487	0.3754	10	0.87932	D	0	.	18.301	0.90163	0.0:1.0:0.0:0.0	.	345;345	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	W	345	ENSP00000355582:R345W;ENSP00000355583:R345W	ENSP00000355582:R345W	R	+	1	2	RP5-862P8.2	231556222	1.000000	0.71417	0.752000	0.31206	0.985000	0.73830	7.645000	0.83430	2.538000	0.85594	0.563000	0.77884	CGG		0.507	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1				19	77	0	0	0	0.006122	0	19	77		
RYR2	6262	broad.mit.edu	37	1	237813229	237813229	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:237813229C>T	ENST00000366574.2	+	50	7882	c.7565C>T	c.(7564-7566)aCa>aTa	p.T2522I	RYR2_ENST00000542537.1_Missense_Mutation_p.T2506I|RYR2_ENST00000360064.6_Missense_Mutation_p.T2520I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2522	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACCTTTGCACAGCCGTCTTG	0.463																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7564-7566)ACA>ATA		cardiac muscle ryanodine receptor							164.0	159.0	160.0					1																	237813229		2016	4183	6199	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237813229C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7565C>T	1.37:g.237813229C>T	ENSP00000355533:p.Thr2522Ile						p.T2522I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		50	7685	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2522			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7565C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016224	0.75161	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96396	-4.0;-4.0;-4.0	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000008	D	0.89884	0.6844	N	0.08118	0	0.80722	D	1	P	0.40970	0.734	B	0.36134	0.218	D	0.90963	0.4814	10	0.56958	D	0.05	-11.4933	12.9922	0.58625	0.0:0.9258:0.0:0.0742	.	2522	Q92736	RYR2_HUMAN	I	2522;2520;2506	ENSP00000355533:T2522I;ENSP00000353174:T2520I;ENSP00000443798:T2506I	ENSP00000353174:T2520I	T	+	2	0	RYR2	235879852	1.000000	0.71417	0.996000	0.52242	0.878000	0.50629	6.042000	0.70996	2.713000	0.92767	0.655000	0.94253	ACA		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		43	133	0	0	0	0.010771	0	43	133		
ZP4	57829	broad.mit.edu	37	1	238053778	238053778	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:238053778G>A	ENST00000366570.4	-	1	316	c.158C>T	c.(157-159)cCt>cTt	p.P53L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	53					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TATTAGTACAGGAGGAGACGT	0.488																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NaN																	0				ovary(2)|skin(1)	3						c.(157-159)CCT>CTT		zona pellucida glycoprotein 4 preproprotein							69.0	67.0	68.0					1																	238053778		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053778G>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.158C>T	1.37:g.238053778G>A	ENSP00000355529:p.Pro53Leu					LOC100130331_uc010pyc.1_Intron	p.P53L	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		1	158	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	53			Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.158C>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	0.074	-1.196996	0.01594	.	.	ENSG00000116996	ENST00000366570	T	0.73681	-0.77	4.38	3.44	0.39384	.	0.311141	0.23235	N	0.050406	T	0.69584	0.3127	M	0.80982	2.52	0.09310	N	0.999999	P	0.34662	0.462	B	0.29663	0.105	T	0.57780	-0.7752	10	0.20519	T	0.43	-13.4503	9.9805	0.41811	0.0:0.2061:0.7939:0.0	.	53	Q12836	ZP4_HUMAN	L	53	ENSP00000355529:P53L	ENSP00000355529:P53L	P	-	2	0	ZP4	236120401	0.037000	0.19845	0.024000	0.17045	0.018000	0.09664	1.081000	0.30791	1.025000	0.39708	0.655000	0.94253	CCT		0.488	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1				10	48	0	0	0	0.013537	0	10	48		
ADSS	159	broad.mit.edu	37	1	244582145	244582145	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:244582145G>C	ENST00000366535.3	-	9	1178	c.862C>G	c.(862-864)Caa>Gaa	p.Q288E	ADSS_ENST00000462358.1_5'Flank	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			CCAACATTTTGAGGTGGCATA	0.378																																						uc001iaj.2		NaN																	0				ovary(2)|kidney(1)	3						c.(862-864)CAA>GAA		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						93.0	85.0	88.0					1																	244582145		2203	4300	6503	SO:0001583	missense	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244582145G>C	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.862C>G	1.37:g.244582145G>C	ENSP00000355493:p.Gln288Glu						p.Q288E	NM_001126	NP_001117	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		9	1156	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	288						Missense_Mutation	SNP	ENST00000366535.3	37	c.862C>G	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480063	0.44044	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.43688	0.94	5.98	5.07	0.68467	.	0.098710	0.64402	D	0.000001	T	0.44973	0.1319	M	0.78456	2.415	0.34561	D	0.71241	B	0.33883	0.43	B	0.28385	0.089	T	0.61628	-0.7024	10	0.49607	T	0.09	-1.1631	15.2012	0.73139	0.0673:0.0:0.9327:0.0	.	288	P30520	PURA2_HUMAN	E	288;267	ENSP00000355493:Q288E	ENSP00000355493:Q288E	Q	-	1	0	ADSS	242648768	1.000000	0.71417	0.500000	0.27589	0.959000	0.62525	5.656000	0.67988	1.543000	0.49345	0.591000	0.81541	CAA		0.378	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1		NM_001126		9	31	0	0	0	0.006214	0	9	31		
TUBB8	347688	broad.mit.edu	37	10	93965	93965	+	Missense_Mutation	SNP	C	C	G	rs562343372		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:93965C>G	ENST00000309812.4	-	4	429	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.E51Q|TUBB8_ENST00000332708.5_3'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	123					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CTCTCAGCCTCCTTTCTGACA	0.597													c|||	1	0.000199681	0.0	0.0	5008	,	,		24056	0.0		0.0	False		,,,				2504	0.001				Pancreas(192;2041 3010 9013 18103)	uc001ifi.2		NaN																	0				ovary(1)	1						c.(367-369)GAG>CAG		tubulin, beta 8 isoform 1							39.0	36.0	37.0					10																	93965		2201	4293	6494	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93965C>G	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.367G>C	10.37:g.93965C>G	ENSP00000311042:p.Glu123Gln					TUBB8_uc009xhe.2_Missense_Mutation_p.E86Q|TUBB8_uc010pzs.1_Missense_Mutation_p.E51Q	p.E123Q	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	367	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	123					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.367G>C	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151959	0.38021	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.71817	-0.6	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	U	0.000008	T	0.73621	0.3610	M	0.76170	2.325	0.33331	D	0.568521	P;P	0.52463	0.807;0.953	P;B	0.53518	0.728;0.365	T	0.76873	-0.2798	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	86;123	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	Q	51;89;86;123	ENSP00000403895:E51Q	ENSP00000272035:E89Q	E	-	1	0	RP11-631M21.2	83965	1.000000	0.71417	0.259000	0.24435	0.262000	0.26303	5.268000	0.65536	0.119000	0.18210	0.121000	0.15741	GAG		0.597	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1		NM_177987		12	167	0	0	0	0.004007	0	12	167		
FRMD4A	55691	broad.mit.edu	37	10	13698803	13698803	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:13698803C>T	ENST00000357447.2	-	22	3154	c.2786G>A	c.(2785-2787)cGc>cAc	p.R929H	FRMD4A_ENST00000378503.1_Missense_Mutation_p.R929H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.R914H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	929					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GTACCACTGGCGCAGCTCGTC	0.711																																						uc001ims.2		NaN																	0				ovary(1)|skin(1)|pancreas(1)	3						c.(2785-2787)CGC>CAC		FERM domain containing 4A							52.0	45.0	47.0					10																	13698803		2202	4298	6500	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13698803C>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2786G>A	10.37:g.13698803C>T	ENSP00000350032:p.Arg929His					FRMD4A_uc009xjf.1_Missense_Mutation_p.R929H	p.R929H	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN			22	3138	-			929					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.2786G>A	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032488	0.75504	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.89810	-2.56;-2.57;-2.57	4.65	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.89942	0.6861	L	0.34521	1.04	0.58432	D	0.999998	D	0.76494	0.999	P	0.61592	0.891	D	0.90713	0.4629	10	0.87932	D	0	-14.2419	14.7797	0.69756	0.0:0.8548:0.1452:0.0	.	929	Q9P2Q2	FRM4A_HUMAN	H	914;929;929	ENSP00000351438:R914H;ENSP00000350032:R929H;ENSP00000367764:R929H	ENSP00000350032:R929H	R	-	2	0	FRMD4A	13738809	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.266000	0.78452	0.922000	0.37019	0.185000	0.17295	CGC		0.711	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1		NM_018027		10	72	0	0	0	0.010729	0	10	72		
ZNF33B	7582	broad.mit.edu	37	10	43088106	43088106	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:43088106G>A	ENST00000359467.3	-	5	2406	c.2292C>T	c.(2290-2292)ctC>ctT	p.L764L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	764					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(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GATGTACAATGAGATTTGACT	0.393																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1		NaN																	0					0						c.(2290-2292)CTC>CTT		zinc finger protein 33B							140.0	134.0	136.0					10																	43088106		2203	4300	6503	SO:0001819	synonymous_variant	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088106G>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2292C>T	10.37:g.43088106G>A						ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.L652L|ZNF33B_uc001jad.2_Intron	p.L764L	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	2407	-			764			C2H2-type 16.		Q06731|Q32MA2|Q86XY8|Q8NDW3	Silent	SNP	ENST00000359467.3	37	c.2292C>T	CCDS7198.1																																																																																				0.393	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_006955		30	229	0	0	0	0.009535	0	30	229		
MYPN	84665	broad.mit.edu	37	10	69925571	69925571	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:69925571G>C	ENST00000358913.5	+	9	2084	c.1596G>C	c.(1594-1596)gtG>gtC	p.V532V	MYPN_ENST00000354393.2_Silent_p.V257V|MYPN_ENST00000540630.1_Silent_p.V532V	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	532					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGCTGCACGTGAGAGGTAAGG	0.428																																						uc001jnm.3		NaN																	0				ovary(3)|skin(2)	5						c.(1594-1596)GTG>GTC		myopalladin							151.0	124.0	133.0					10																	69925571		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69925571G>C	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1596G>C	10.37:g.69925571G>C						MYPN_uc001jnl.1_Silent_p.V532V|MYPN_uc001jnn.3_Silent_p.V257V|MYPN_uc001jno.3_Silent_p.V532V|MYPN_uc009xps.2_Silent_p.V532V|MYPN_uc009xpt.2_Silent_p.V532V|MYPN_uc010qit.1_Silent_p.V238V|MYPN_uc010qiu.1_RNA	p.V532V	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			10	1781	+			532					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.1596G>C	CCDS7275.1																																																																																				0.428	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1		NM_032578		18	117	0	0	0	0.014323	0	18	117		
DDX21	9188	broad.mit.edu	37	10	70738718	70738718	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:70738718C>G	ENST00000354185.4	+	13	2121	c.2023C>G	c.(2023-2025)Ctc>Gtc	p.L675V		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	675					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AATGGTTTTTCTCAAAGGAAA	0.458																																						uc001jov.1		NaN																	0				ovary(2)|kidney(1)	3						c.(2023-2025)CTC>GTC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 21							133.0	138.0	136.0					10																	70738718		2203	4300	6503	SO:0001583	missense	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70738718C>G	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.2023C>G	10.37:g.70738718C>G	ENSP00000346120:p.Leu675Val					DDX21_uc001jow.1_Missense_Mutation_p.L607V	p.L675V	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN			13	2113	+			675					B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	c.2023C>G	CCDS31211.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292957	0.40594	.	.	ENSG00000165732	ENST00000354185	T	0.18174	2.23	5.69	4.79	0.61399	GUCT (1);	0.270973	0.37906	N	0.001898	T	0.21881	0.0527	L	0.59436	1.845	0.48288	D	0.999624	P	0.42123	0.771	B	0.41135	0.348	T	0.01853	-1.1260	10	0.45353	T	0.12	-29.3254	15.0204	0.71627	0.0:0.9317:0.0:0.0683	.	675	Q9NR30	DDX21_HUMAN	V	675	ENSP00000346120:L675V	ENSP00000346120:L675V	L	+	1	0	DDX21	70408724	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	3.460000	0.53028	1.545000	0.49373	-0.140000	0.14226	CTC		0.458	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1		NM_004728		32	150	0	0	0	0.003755	0	32	150		
USP54	159195	broad.mit.edu	37	10	75279710	75279710	+	Silent	SNP	C	C	A	rs369618128		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:75279710C>A	ENST00000339859.4	-	18	2623	c.2523G>T	c.(2521-2523)acG>acT	p.T841T	RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000422491.2_Silent_p.T23T|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000408019.1_Silent_p.T841T|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Silent_p.T691T|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_Intron			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	841					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.T841T(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CTCTGCTGTGCGTGCTACAGC	0.443																																					Colon(195;880 2046 8854 25025 38456)	uc001juo.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	breast(3)|lung(2)|kidney(1)	6						c.(2521-2523)ACG>ACT		ubiquitin specific peptidase 54							35.0	37.0	36.0					10																	75279710		2055	4217	6272	SO:0001819	synonymous_variant	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75279710C>A	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2523G>T	10.37:g.75279710C>A						USP54_uc010qkk.1_Silent_p.T23T|USP54_uc001juk.2_Intron|USP54_uc001jul.2_Intron|USP54_uc001jum.2_Intron|USP54_uc001jun.2_Intron|USP54_uc001jup.2_Silent_p.T841T	p.T841T	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			17	2540	-	Prostate(51;0.0112)		841					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	ENST00000339859.4	37	c.2523G>T	CCDS7329.2																																																																																				0.443	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2		NM_152586		4	45	1	0	2.56e-06	0.009096	2.61753e-06	4	45		
ZSWIM8	23053	broad.mit.edu	37	10	75548903	75548903	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:75548903G>A	ENST00000605216.1	+	3	629	c.412G>A	c.(412-414)Gat>Aat	p.D138N	ZSWIM8_ENST00000398706.2_Missense_Mutation_p.D138N|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.D138N|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.D138N|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.D138N	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	138							zinc ion binding (GO:0008270)										TCAGCGAGGGGATCAGCTCTT	0.567																																						uc009xrl.2		NaN																	0				breast(1)	1						c.(412-414)GAT>AAT		hypothetical protein LOC23053							109.0	113.0	111.0					10																	75548903		2102	4226	6328	SO:0001583	missense	23053						zinc ion binding	g.chr10:75548903G>A	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.412G>A	10.37:g.75548903G>A	ENSP00000474748:p.Asp138Asn					KIAA0913_uc001jve.2_Missense_Mutation_p.D138N|KIAA0913_uc001jvf.2_Missense_Mutation_p.D138N|KIAA0913_uc001jvh.2_5'Flank|KIAA0913_uc001jvi.2_5'Flank|KIAA0913_uc010qkr.1_5'Flank|KIAA0913_uc001jvj.2_5'Flank	p.D138N	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			3	444	+	Prostate(51;0.0112)		138					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.412G>A		.	.	.	.	.	.	.	.	.	.	G	20.5	3.996408	0.74818	.	.	ENSG00000214655	ENST00000398706	T	0.41065	1.01	5.09	5.09	0.68999	.	.	.	.	.	T	0.35128	0.0921	L	0.27053	0.805	0.54753	D	0.999987	B;B;B	0.25609	0.13;0.13;0.13	B;B;B	0.21546	0.035;0.035;0.035	T	0.21075	-1.0256	9	0.72032	D	0.01	.	18.6824	0.91551	0.0:0.0:1.0:0.0	.	138;138;138	A7E2V4;A7E2V4-5;A7E2V4-4	K0913_HUMAN;.;.	N	138	ENSP00000381693:D138N	ENSP00000381693:D138N	D	+	1	0	KIAA0913	75218909	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.781000	0.99029	2.647000	0.89833	0.655000	0.94253	GAT		0.567	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1		NM_001242487		65	67	0	0	0	0.01441	0	65	67		
LRIT1	26103	broad.mit.edu	37	10	85992365	85992365	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:85992365G>C	ENST00000372105.3	-	4	1211	c.1190C>G	c.(1189-1191)tCt>tGt	p.S397C		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	397						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCTGGGCACAGAGGGTCCAGT	0.617																																						uc001kcz.1		NaN																	0					0						c.(1189-1191)TCT>TGT		retina specific protein PAL							61.0	52.0	55.0					10																	85992365		2203	4300	6503	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85992365G>C	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1190C>G	10.37:g.85992365G>C	ENSP00000361177:p.Ser397Cys						p.S397C	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			4	1212	-			397			Lumenal (Potential).		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.1190C>G	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701596	0.30142	.	.	ENSG00000148602	ENST00000372105	T	0.37411	1.2	5.76	4.79	0.61399	.	1.016100	0.07830	N	0.961238	T	0.27349	0.0671	N	0.14661	0.345	0.31258	N	0.693219	D	0.55800	0.973	B	0.43754	0.43	T	0.11817	-1.0572	10	0.56958	D	0.05	.	9.6024	0.39612	0.1841:0.0:0.8159:0.0	.	397	Q9P2V4	LRIT1_HUMAN	C	397	ENSP00000361177:S397C	ENSP00000361177:S397C	S	-	2	0	LRIT1	85982345	0.000000	0.05858	0.043000	0.18650	0.308000	0.27856	0.383000	0.20651	1.283000	0.44513	0.655000	0.94253	TCT		0.617	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1		NM_015613		36	109	0	0	0	0.004878	0	36	109		
GRID1	2894	broad.mit.edu	37	10	87373287	87373287	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:87373287G>C	ENST00000327946.7	-	15	2563	c.2478C>G	c.(2476-2478)ctC>ctG	p.L826L	GRID1_ENST00000552278.2_5'Flank|GRID1_ENST00000536331.1_Silent_p.L397L	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	826					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.L826L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TGTGCAGCTTGAGGGATTTGC	0.647										Multiple Myeloma(13;0.14)																												uc001kdl.1		NaN																	1	Substitution - coding silent(1)		NS(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(2476-2478)CTC>CTG		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						67.0	72.0	70.0					10																	87373287		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87373287G>C	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2478C>G	10.37:g.87373287G>C		Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.L397L	p.L826L	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			15	2579	-			826			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.2478C>G	CCDS31236.1																																																																																				0.647	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3		XM_043613		19	100	0	0	0	0.010504	0	19	100		
CH25H	9023	broad.mit.edu	37	10	90966884	90966884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:90966884C>T	ENST00000371852.2	-	1	187	c.166G>A	c.(166-168)Gtg>Atg	p.V56M		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	56					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol 25-hydroxylase activity (GO:0001567)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		TCCAGGACCACGAAGGGCAGG	0.632																																						uc001kfz.2		NaN																	0					0						c.(166-168)GTG>ATG		cholesterol 25-hydroxylase							36.0	38.0	37.0					10																	90966884		2203	4300	6503	SO:0001583	missense	9023				bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding	g.chr10:90966884C>T	AF059212	CCDS7400.1	10q23	2013-03-04			ENSG00000138135	ENSG00000138135	1.14.99.38	"""Fatty acid hydroxylase domain containing"""	1907	protein-coding gene	gene with protein product		604551				9852097	Standard	NM_003956		Approved		uc001kfz.3	O95992	OTTHUMG00000018705	ENST00000371852.2:c.166G>A	10.37:g.90966884C>T	ENSP00000360918:p.Val56Met						p.V56M	NM_003956	NP_003947	O95992	CH25H_HUMAN		GBM - Glioblastoma multiforme(2;0.000133)	1	188	-		Colorectal(252;0.0161)	56			Helical; (Potential).		B2RBY3	Missense_Mutation	SNP	ENST00000371852.2	37	c.166G>A	CCDS7400.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574074	0.28092	.	.	ENSG00000138135	ENST00000371852	T	0.70986	-0.53	5.1	2.16	0.27623	.	0.159618	0.41500	D	0.000866	T	0.54935	0.1889	L	0.58669	1.825	0.28933	N	0.891421	B	0.34329	0.449	B	0.28465	0.09	T	0.47045	-0.9147	10	0.29301	T	0.29	-34.6275	1.9336	0.03332	0.155:0.4748:0.1514:0.2188	.	56	O95992	CH25H_HUMAN	M	56	ENSP00000360918:V56M	ENSP00000360918:V56M	V	-	1	0	CH25H	90956864	0.087000	0.21565	0.995000	0.50966	0.706000	0.40770	0.205000	0.17356	0.652000	0.30806	0.650000	0.86243	GTG		0.632	CH25H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049291.1		NM_003956		15	53	0	0	0	0.004007	0	15	53		
SLIT1	6585	broad.mit.edu	37	10	98762697	98762697	+	Silent	SNP	G	G	A	rs148583876		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:98762697G>A	ENST00000266058.4	-	35	4163	c.3918C>T	c.(3916-3918)aaC>aaT	p.N1306N	SLIT1_ENST00000371070.4_Silent_p.N1306N|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1306	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGCCGGTGCCGTTGAGGATCT	0.607																																						uc001kmw.2		NaN																	0				ovary(4)	4						c.(3916-3918)AAC>AAT		slit homolog 1 precursor		G		1,4405	2.1+/-5.4	0,1,2202	144.0	145.0	145.0		3918	-9.3	0.5	10	dbSNP_134	145	0,8600		0,0,4300	no	coding-synonymous	SLIT1	NM_003061.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1306/1535	98762697	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98762697G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3918C>T	10.37:g.98762697G>A							p.N1306N	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	35	4170	-		Colorectal(252;0.162)	1306			Laminin G-like.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.3918C>T	CCDS7453.1																																																																																				0.607	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1		NM_003061		69	331	0	0	0	0.01441	0	69	331		
SLIT1	6585	broad.mit.edu	37	10	98823297	98823297	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:98823297G>A	ENST00000266058.4	-	8	953	c.708C>T	c.(706-708)atC>atT	p.I236I	SLIT1_ENST00000371070.4_Silent_p.I236I|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.I236I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	236	LRRCT 1.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGAAGAGCCCGATGGTTGGCC	0.647																																						uc001kmw.2		NaN																	0				ovary(4)	4						c.(706-708)ATC>ATT		slit homolog 1 precursor							23.0	24.0	24.0					10																	98823297		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98823297G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.708C>T	10.37:g.98823297G>A						SLIT1_uc009xvh.1_Silent_p.I236I	p.I236I	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	8	960	-		Colorectal(252;0.162)	236			LRRCT 1.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.708C>T	CCDS7453.1																																																																																				0.647	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1		NM_003061		28	21	0	0	0	0.009535	0	28	21		
PNLIPRP3	119548	broad.mit.edu	37	10	118236220	118236220	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:118236220T>C	ENST00000369230.3	+	11	1375	c.1229T>C	c.(1228-1230)gTt>gCt	p.V410A		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	410	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GATGTTAACGTTGGAAACATT	0.358																																						uc001lcl.3		NaN																	0				ovary(1)	1						c.(1228-1230)GTT>GCT		pancreatic lipase-related protein 3 precursor							122.0	119.0	120.0					10																	118236220		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118236220T>C	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1229T>C	10.37:g.118236220T>C	ENSP00000358232:p.Val410Ala						p.V410A	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	11	1330	+			410			PLAT.			Missense_Mutation	SNP	ENST00000369230.3	37	c.1229T>C	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	T	6.515	0.463313	0.12402	.	.	ENSG00000203837	ENST00000369230	T	0.68181	-0.31	4.13	2.96	0.34315	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.799351	0.10337	N	0.686791	T	0.71230	0.3315	M	0.79805	2.47	0.19575	N	0.999963	B	0.33739	0.422	B	0.43360	0.417	T	0.63337	-0.6660	10	0.48119	T	0.1	.	4.6269	0.12482	0.0:0.1052:0.1987:0.6961	.	410	Q17RR3	LIPR3_HUMAN	A	410	ENSP00000358232:V410A	ENSP00000358232:V410A	V	+	2	0	PNLIPRP3	118226210	0.853000	0.29707	0.538000	0.28064	0.033000	0.12548	1.423000	0.34837	0.685000	0.31468	-0.313000	0.08912	GTT		0.358	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1		XM_058404		59	60	0	0	0	0.01441	0	59	60		
PNLIPRP3	119548	broad.mit.edu	37	10	118236306	118236306	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:118236306A>C	ENST00000369230.3	+	11	1461	c.1315A>C	c.(1315-1317)Aat>Cat	p.N439H		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	439	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AATGGTGATAAATACATCTGG	0.308																																						uc001lcl.3		NaN																	0				ovary(1)	1						c.(1315-1317)AAT>CAT		pancreatic lipase-related protein 3 precursor							90.0	96.0	94.0					10																	118236306		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118236306A>C	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1315A>C	10.37:g.118236306A>C	ENSP00000358232:p.Asn439His						p.N439H	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	11	1416	+			439			PLAT.			Missense_Mutation	SNP	ENST00000369230.3	37	c.1315A>C	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	A	6.864	0.528851	0.13127	.	.	ENSG00000203837	ENST00000369230	T	0.63744	-0.06	4.07	2.05	0.26809	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.643694	0.13604	N	0.375675	T	0.35941	0.0949	N	0.08118	0	0.09310	N	1	B	0.32338	0.365	B	0.28784	0.094	T	0.24977	-1.0145	10	0.87932	D	0	.	4.7799	0.13197	0.2152:0.1791:0.6057:0.0	.	439	Q17RR3	LIPR3_HUMAN	H	439	ENSP00000358232:N439H	ENSP00000358232:N439H	N	+	1	0	PNLIPRP3	118226296	0.075000	0.21258	0.053000	0.19242	0.511000	0.34104	0.797000	0.26999	0.428000	0.26173	-0.177000	0.13119	AAT		0.308	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1		XM_058404		41	46	0	0	0	0.010771	0	41	46		
LMNTD2	256329	broad.mit.edu	37	11	558000	558000	+	Missense_Mutation	SNP	G	G	A	rs374391484		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:558000G>A	ENST00000329451.3	-	5	501	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397582.3_5'Flank|RASSF7_ENST00000344375.4_5'Flank|RASSF7_ENST00000431809.1_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		147										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGAGCGTGCGGGTGGTCTGC	0.672																																						uc001lpx.2		NaN																	0				pancreas(1)	1						c.(439-441)CGC>TGC		hypothetical protein LOC256329		G	CYS/ARG	0,4404		0,0,2202	27.0	31.0	29.0		439	-7.3	0.0	11		29	1,8593	1.2+/-3.3	0,1,4296	no	missense	C11orf35	NM_173573.2	180	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	147/635	558000	1,12997	2202	4297	6499	SO:0001583	missense	256329							g.chr11:558000G>A																												ENST00000329451.3:c.439C>T	11.37:g.558000G>A	ENSP00000331167:p.Arg147Cys					uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank|RASSF7_uc001lqb.2_5'Flank	p.R147C	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	502	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	147			Potential.			Missense_Mutation	SNP	ENST00000329451.3	37	c.439C>T	CCDS7701.1	.	.	.	.	.	.	.	.	.	.	G	9.582	1.123875	0.20959	0.0	1.16E-4	ENSG00000185522	ENST00000329451;ENST00000441853;ENST00000486629	T;T;T	0.30714	1.52;1.52;1.52	3.66	-7.33	0.01431	.	2.683750	0.01486	U	0.016890	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.10965	-1.0607	10	0.37606	T	0.19	-9.1959	1.9755	0.03415	0.2347:0.2763:0.3571:0.1319	.	147	Q8IXW0	CK035_HUMAN	C	147;154;157	ENSP00000331167:R147C;ENSP00000393529:R154C;ENSP00000435529:R157C	ENSP00000331167:R147C	R	-	1	0	C11orf35	548000	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.035000	0.00309	-1.670000	0.01468	-0.538000	0.04264	CGC		0.672	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2				60	63	0	0	0	0.01441	0	60	63		
OR52N4	390072	broad.mit.edu	37	11	5776753	5776753	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:5776753C>G	ENST00000317254.3	+	1	831	c.783C>G	c.(781-783)ttC>ttG	p.F261L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	261						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)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TCTTCTCCTTCTTTTCCCACC	0.478																																						uc001mbu.2		NaN																	0				ovary(1)|skin(1)	2						c.(781-783)TTC>TTG		olfactory receptor, family 52, subfamily N,							211.0	199.0	203.0					11																	5776753		1996	4203	6199	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776753C>G	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.783C>G	11.37:g.5776753C>G	ENSP00000323224:p.Phe261Leu					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.F261L	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	831	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	261			Extracellular (Potential).		B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.783C>G	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247627	0.39697	.	.	ENSG00000181074	ENST00000317254	T	0.00063	8.78	5.76	-2.64	0.06114	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40222	N	0.001144	T	0.00210	0.0006	M	0.91090	3.175	0.09310	N	1	B	0.14805	0.011	B	0.26969	0.075	T	0.51934	-0.8642	10	0.54805	T	0.06	.	2.8532	0.05564	0.0958:0.3875:0.1889:0.3278	.	261	Q8NGI2	O52N4_HUMAN	L	261	ENSP00000323224:F261L	ENSP00000323224:F261L	F	+	3	2	OR52N4	5733329	0.000000	0.05858	0.713000	0.30519	0.973000	0.67179	-0.665000	0.05286	-0.363000	0.08101	-0.142000	0.14014	TTC		0.478	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1		NM_001005175		29	72	0	0	0	0.007291	0	29	72		
STK33	65975	broad.mit.edu	37	11	8457652	8457652	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:8457652C>T	ENST00000447869.1	-	9	1900	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	STK33_ENST00000358872.3_Missense_Mutation_p.E141K|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000534493.1_Missense_Mutation_p.E287K|STK33_ENST00000315204.1_Missense_Mutation_p.E328K|STK33_ENST00000396673.1_Missense_Mutation_p.E328K|STK33_ENST00000396672.1_Missense_Mutation_p.E328K			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	328	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AGCTTCTCTTCTGAGCTTGCC	0.313																																						uc001mgi.1		NaN																	0				ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(982-984)GAA>AAA		serine/threonine kinase 33							47.0	44.0	45.0					11																	8457652		2201	4296	6497	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8457652C>T	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.982G>A	11.37:g.8457652C>T	ENSP00000416750:p.Glu328Lys					STK33_uc001mgj.1_Missense_Mutation_p.E328K|STK33_uc001mgk.1_Missense_Mutation_p.E328K|STK33_uc010rbn.1_Missense_Mutation_p.E287K|STK33_uc001mgl.3_Missense_Mutation_p.E141K|STK33_uc009yfp.2_Missense_Mutation_p.E50K	p.E328K	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	9	1901	-			328			Protein kinase.		Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.982G>A	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750561	0.89753	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.099830	0.64402	D	0.000002	T	0.65790	0.2725	L	0.43152	1.355	0.48901	D	0.999723	P;P	0.46277	0.875;0.623	P;P	0.47891	0.56;0.53	T	0.66110	-0.6005	10	0.59425	D	0.04	.	20.1581	0.98126	0.0:1.0:0.0:0.0	.	287;328	B4DDH2;Q9BYT3	.;STK33_HUMAN	K	328;328;328;141;328;83;287	ENSP00000416750:E328K;ENSP00000320754:E328K;ENSP00000379905:E328K;ENSP00000351743:E141K;ENSP00000379906:E328K;ENSP00000415688:E83K;ENSP00000436418:E287K	ENSP00000320754:E328K	E	-	1	0	STK33	8414228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.431000	0.59915	2.937000	0.99478	0.650000	0.86243	GAA		0.313	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2		NM_030906		19	31	0	0	0	0.008871	0	19	31		
STK33	65975	broad.mit.edu	37	11	8496434	8496434	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:8496434C>G	ENST00000447869.1	-	1	937	c.19G>C	c.(19-21)Gat>Cat	p.D7H	STK33_ENST00000358872.3_Intron|STK33_ENST00000534493.1_Intron|STK33_ENST00000315204.1_Missense_Mutation_p.D7H|STK33_ENST00000396673.1_Missense_Mutation_p.D7H|STK33_ENST00000396672.1_Missense_Mutation_p.D7H			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	7					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GATTTTTTATCTAAGCCACTA	0.393																																						uc001mgi.1		NaN																	0				ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(19-21)GAT>CAT		serine/threonine kinase 33							118.0	119.0	118.0					11																	8496434		2201	4296	6497	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8496434C>G	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.19G>C	11.37:g.8496434C>G	ENSP00000416750:p.Asp7His					STK33_uc001mgj.1_Missense_Mutation_p.D7H|STK33_uc001mgk.1_Missense_Mutation_p.D7H|STK33_uc010rbn.1_Intron|STK33_uc001mgl.3_Intron|STK33_uc009yfp.2_Intron	p.D7H	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	1	938	-			7					Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.19G>C	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	C	7.754	0.703960	0.15172	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000396673;ENST00000457885;ENST00000431279;ENST00000454443;ENST00000526360	T;T;T;T;T;T	0.71222	-0.52;-0.52;-0.52;-0.55;1.31;0.65	4.39	-3.9	0.04181	.	1.186530	0.06348	N	0.709264	T	0.50973	0.1647	N	0.19112	0.55	0.09310	N	1	P	0.36438	0.553	B	0.36186	0.219	T	0.43048	-0.9415	10	0.48119	T	0.1	.	5.1269	0.14890	0.2173:0.4264:0.0:0.3563	.	7	Q9BYT3	STK33_HUMAN	H	7	ENSP00000416750:D7H;ENSP00000320754:D7H;ENSP00000379905:D7H;ENSP00000379906:D7H;ENSP00000403599:D7H;ENSP00000397569:D7H	ENSP00000320754:D7H	D	-	1	0	STK33	8453010	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.163000	0.09997	-1.430000	0.01985	-2.596000	0.00163	GAT		0.393	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2		NM_030906		24	57	0	0	0	0.003954	0	24	57		
KCNJ11	3767	broad.mit.edu	37	11	17409306	17409306	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:17409306G>A	ENST00000339994.4	-	1	900	c.333C>T	c.(331-333)gtC>gtT	p.V111V	KCNJ11_ENST00000528731.1_Silent_p.V24V|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	111					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GGATGCTGGTGACACAGGGCT	0.622																																						uc001mna.2		NaN																	0				ovary(1)	1						c.(331-333)GTC>GTT		potassium inwardly-rectifying channel J11							114.0	92.0	100.0					11																	17409306		2200	4293	6493	SO:0001819	synonymous_variant	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17409306G>A	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.333C>T	11.37:g.17409306G>A						KCNJ11_uc001mnb.3_Silent_p.V24V	p.V111V	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	901	-			111					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Silent	SNP	ENST00000339994.4	37	c.333C>T	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	G	0.350	-0.945173	0.02304	.	.	ENSG00000187486	ENST00000528992	.	.	.	4.94	2.93	0.34026	.	.	.	.	.	T	0.52964	0.1767	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47195	-0.9136	4	.	.	.	.	5.5083	0.16866	0.1912:0.2818:0.527:0.0	.	.	.	.	L	117	.	.	S	-	2	0	KCNJ11	17365882	1.000000	0.71417	1.000000	0.80357	0.352000	0.29268	0.697000	0.25556	1.083000	0.41159	0.462000	0.41574	TCA		0.622	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1		NM_000525		32	51	0	0	0	0.013726	0	32	51		
QSER1	79832	broad.mit.edu	37	11	32997931	32997931	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:32997931C>T	ENST00000399302.2	+	13	5454	c.5119C>T	c.(5119-5121)Caa>Taa	p.Q1707*	QSER1_ENST00000527788.1_Nonsense_Mutation_p.Q1468*	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1707										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GGAAATTGTTCAACTTTGTAT	0.318																																						uc001mty.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(5119-5121)CAA>TAA		glutamine and serine rich 1							77.0	75.0	75.0					11																	32997931		1806	4062	5868	SO:0001587	stop_gained	79832							g.chr11:32997931C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.5119C>T	11.37:g.32997931C>T	ENSP00000382241:p.Gln1707*					QSER1_uc001mtz.1_Nonsense_Mutation_p.Q1468*	p.Q1707*	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			13	5386	+	Breast(20;0.158)		1707					Q6ZU30|Q6ZUR5	Nonsense_Mutation	SNP	ENST00000399302.2	37	c.5119C>T	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	44	10.769699	0.99464	.	.	ENSG00000060749	ENST00000399302;ENST00000527788	.	.	.	5.78	5.78	0.91487	.	0.609345	0.11506	U	0.557219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	14.808	0.69971	0.1441:0.8559:0.0:0.0	.	.	.	.	X	1707;1468	.	ENSP00000382241:Q1707X	Q	+	1	0	QSER1	32954507	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.965000	0.63708	2.744000	0.94065	0.563000	0.77884	CAA		0.318	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1		NM_024774		19	32	0	0	0	0.007413	0	19	32		
ACCS	84680	broad.mit.edu	37	11	44089398	44089398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:44089398G>A	ENST00000263776.8	+	2	655	c.221G>A	c.(220-222)tGg>tAg	p.W74*	ACCS_ENST00000432284.2_Nonsense_Mutation_p.W74*|ACCS_ENST00000533208.1_Intron	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	74					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						AAATGGTTCTGGGATTCAGCT	0.537																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	uc009yks.1		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(220-222)TGG>TAG		1-aminocyclopropane-1-carboxylate synthase							78.0	67.0	71.0					11																	44089398		2203	4300	6503	SO:0001587	stop_gained	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44089398G>A	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.221G>A	11.37:g.44089398G>A	ENSP00000263776:p.Trp74*					ACCS_uc010rfm.1_Intron|ACCS_uc010rfn.1_Nonsense_Mutation_p.W74*|ACCS_uc001mxx.2_Nonsense_Mutation_p.W74*	p.W74*	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN			2	365	+			74					B4E219|Q8WUL4|Q96LX5	Nonsense_Mutation	SNP	ENST00000263776.8	37	c.221G>A	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131639	0.94473	.	.	ENSG00000110455	ENST00000524990;ENST00000263776;ENST00000432284;ENST00000533404	.	.	.	5.57	5.57	0.84162	.	0.201022	0.44285	D	0.000470	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4023	18.3285	0.90261	0.0:0.0:1.0:0.0	.	.	.	.	X	74	.	.	W	+	2	0	ACCS	44045974	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.083000	0.57643	2.630000	0.89119	0.655000	0.94253	TGG		0.537	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1		NM_032592		28	37	0	0	0	0.004656	0	28	37		
MAPK8IP1	9479	broad.mit.edu	37	11	45924153	45924153	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:45924153G>A	ENST00000241014.2	+	5	1005	c.835G>A	c.(835-837)Gag>Aag	p.E279K	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.E269K	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	279	JNK-binding domain (JBD).				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		AGAGGCCACTGAGGAGATCTA	0.682																																						uc001nbr.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(835-837)GAG>AAG		mitogen-activated protein kinase 8 interacting							22.0	27.0	25.0					11																	45924153		2202	4299	6501	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45924153G>A		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.835G>A	11.37:g.45924153G>A	ENSP00000241014:p.Glu279Lys						p.E279K	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	5	1005	+			279			JNK-binding domain (JBD).		D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.835G>A	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	G	34	5.327849	0.95733	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.46819	0.86;0.88	4.69	4.69	0.59074	.	0.052963	0.64402	D	0.000001	T	0.52645	0.1747	L	0.32530	0.975	0.58432	D	0.999999	D	0.67145	0.996	P	0.54759	0.76	T	0.57568	-0.7789	10	0.72032	D	0.01	-31.0133	18.1729	0.89752	0.0:0.0:1.0:0.0	.	279	Q9UQF2	JIP1_HUMAN	K	279;269	ENSP00000241014:E279K;ENSP00000378991:E269K	ENSP00000241014:E279K	E	+	1	0	MAPK8IP1	45880729	1.000000	0.71417	0.973000	0.42090	0.991000	0.79684	8.781000	0.91805	2.606000	0.88127	0.561000	0.74099	GAG		0.682	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1		NM_005456		37	70	0	0	0	0.004289	0	37	70		
HARBI1	283254	broad.mit.edu	37	11	46637415	46637415	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:46637415C>T	ENST00000326737.3	-	2	620	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000312040.4_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	125						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ATGGAGGCTTCATCAGCTGGA	0.522																																						uc001ncy.2		NaN																	0					0						c.(373-375)GAA>AAA		harbinger transposase derived 1							169.0	164.0	166.0					11																	46637415		2201	4299	6500	SO:0001583	missense	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46637415C>T	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.373G>A	11.37:g.46637415C>T	ENSP00000317743:p.Glu125Lys					KIAA0652_uc009yld.2_5'Flank|KIAA0652_uc001nda.2_5'Flank|KIAA0652_uc001ndb.2_5'Flank|KIAA0652_uc001ncz.2_5'Flank|KIAA0652_uc001ndc.2_5'Flank|KIAA0652_uc010rgv.1_5'Flank	p.E125K	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN			2	621	-			125					D3DQP9	Missense_Mutation	SNP	ENST00000326737.3	37	c.373G>A	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019455	0.35606	.	.	ENSG00000180423	ENST00000326737	.	.	.	5.26	5.26	0.73747	.	0.148612	0.64402	D	0.000015	T	0.57504	0.2058	L	0.49640	1.575	0.58432	D	0.999996	B	0.14012	0.009	B	0.12156	0.007	T	0.53913	-0.8371	9	0.15499	T	0.54	-9.2962	18.8631	0.92281	0.0:1.0:0.0:0.0	.	125	Q96MB7	HARB1_HUMAN	K	125	.	ENSP00000317743:E125K	E	-	1	0	HARBI1	46593991	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.956000	0.49129	2.462000	0.83206	0.655000	0.94253	GAA		0.522	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1		NM_173811		134	230	0	0	0	0.01441	0	134	230		
P2RX3	5024	broad.mit.edu	37	11	57106039	57106039	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:57106039C>T	ENST00000263314.2	+	1	49	c.15C>T	c.(13-15)tcC>tcT	p.S5S	P2RX3_ENST00000533436.1_3'UTR|SSRP1_ENST00000278412.2_5'Flank	NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	5					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						ACTGCATATCCGACTTCTTCA	0.542																																						uc001nju.2		NaN																	0					0						c.(13-15)TCC>TCT		purinergic receptor P2X3							235.0	221.0	226.0					11																	57106039		2201	4296	6497	SO:0001819	synonymous_variant	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57106039C>T	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.15C>T	11.37:g.57106039C>T						SSRP1_uc001njt.2_5'Flank	p.S5S	NM_002559	NP_002550	P56373	P2RX3_HUMAN			1	91	+			5			Cytoplasmic (Potential).		Q6DK37|Q9UQB6	Silent	SNP	ENST00000263314.2	37	c.15C>T	CCDS7953.1																																																																																				0.542	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1		NM_002559		129	273	0	0	0	0.01441	0	129	273		
DAGLA	747	broad.mit.edu	37	11	61487650	61487650	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:61487650G>A	ENST00000257215.5	+	2	139	c.23G>A	c.(22-24)cGg>cAg	p.R8Q		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	8					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTGGTGTTCCGGCGGCGCTGG	0.632																																						uc001nsa.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(22-24)CGG>CAG		neural stem cell-derived dendrite regulator							92.0	84.0	87.0					11																	61487650		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61487650G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.23G>A	11.37:g.61487650G>A	ENSP00000257215:p.Arg8Gln						p.R8Q	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	2	134	+			8			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.23G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429420	0.83776	.	.	ENSG00000134780	ENST00000257215	T	0.24350	1.86	3.85	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	N	0.17082	0.46	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.29058	-1.0024	10	0.46703	T	0.11	-26.4137	16.6943	0.85330	0.0:0.0:1.0:0.0	.	8	Q9Y4D2	DGLA_HUMAN	Q	8	ENSP00000257215:R8Q	ENSP00000257215:R8Q	R	+	2	0	DAGLA	61244226	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.035000	0.93752	2.087000	0.62958	0.555000	0.69702	CGG		0.632	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1		NM_006133		52	96	0	0	0	0.01441	0	52	96		
SLC22A12	116085	broad.mit.edu	37	11	64360266	64360266	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:64360266G>C	ENST00000377574.1	+	2	1165	c.418G>C	c.(418-420)Gac>Cac	p.D140H	SLC22A12_ENST00000336464.7_Missense_Mutation_p.D140H|SLC22A12_ENST00000377567.2_Missense_Mutation_p.D140H|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377572.1_Missense_Mutation_p.D140H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	140					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CCTCGTGTGTGACTCTCATGC	0.642																																						uc001oam.1		NaN																	0				ovary(1)	1						c.(418-420)GAC>CAC		urate anion exchanger 1 isoform a							160.0	133.0	142.0					11																	64360266		2201	4297	6498	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64360266G>C	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.418G>C	11.37:g.64360266G>C	ENSP00000366797:p.Asp140His					SLC22A12_uc009ypr.1_Missense_Mutation_p.D140H|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.D140H|SLC22A12_uc001oan.1_Missense_Mutation_p.D140H|SLC22A12_uc009ypt.2_5'Flank	p.D140H	NM_144585	NP_653186	Q96S37	S22AC_HUMAN			2	1165	+			140					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	c.418G>C	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.012027	0.35511	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	4.71	3.78	0.43462	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.237133	0.40640	N	0.001055	D	0.87822	0.6274	M	0.83223	2.63	0.27313	N	0.957249	B;B;D;B	0.71674	0.194;0.119;0.998;0.119	B;B;D;B	0.69654	0.145;0.145;0.965;0.145	T	0.80437	-0.1383	10	0.87932	D	0	.	7.7215	0.28736	0.1973:0.0:0.8027:0.0	.	140;140;140;140	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	H	140	ENSP00000366790:D140H;ENSP00000366797:D140H;ENSP00000366795:D140H;ENSP00000336836:D140H	ENSP00000336836:D140H	D	+	1	0	SLC22A12	64116842	0.998000	0.40836	0.859000	0.33776	0.586000	0.36452	2.122000	0.41987	0.934000	0.37316	0.561000	0.74099	GAC		0.642	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2		NM_144585		96	397	0	0	0	0.01441	0	96	397		
CD248	57124	broad.mit.edu	37	11	66083610	66083610	+	Missense_Mutation	SNP	G	G	A	rs200653218		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:66083610G>A	ENST00000311330.3	-	1	905	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	297					anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						AAACCCAGGCGACAGTGGCAG	0.647																																						uc001ohm.1		NaN																	0				large_intestine(3)	3						c.(889-891)CGC>TGC		tumor endothelial marker 1 precursor	Cefalotin(DB00456)						32.0	31.0	31.0					11																	66083610		2200	4295	6495	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66083610G>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.889C>T	11.37:g.66083610G>A	ENSP00000308117:p.Arg297Cys						p.R297C	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			1	906	-			297			Extracellular (Potential).		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.889C>T	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202752	0.58234	.	.	ENSG00000174807	ENST00000311330	D	0.87650	-2.28	4.17	4.17	0.49024	Epidermal growth factor-like (1);	0.408613	0.24967	N	0.034165	D	0.87273	0.6136	M	0.73319	2.225	0.40456	D	0.980191	D	0.63880	0.993	P	0.47470	0.548	D	0.87140	0.2202	10	0.38643	T	0.18	-18.7119	11.8181	0.52222	0.0:0.0:1.0:0.0	.	297	Q9HCU0	CD248_HUMAN	C	297	ENSP00000308117:R297C	ENSP00000308117:R297C	R	-	1	0	CD248	65840186	0.890000	0.30428	1.000000	0.80357	0.926000	0.56050	1.412000	0.34714	2.160000	0.67779	0.462000	0.41574	CGC		0.647	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2		NM_020404		61	62	0	0	0	0.01441	0	61	62		
RBM14	10432	broad.mit.edu	37	11	66392969	66392969	+	Missense_Mutation	SNP	G	G	A	rs369922357		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:66392969G>A	ENST00000310137.4	+	2	1761	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H	RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	541	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						GCCTCCTACCGCGGCCAGCCA	0.657																																						uc001oit.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1621-1623)CGC>CAC		RNA binding motif protein 14		G	HIS/ARG,,,,	0,4400		0,0,2200	40.0	36.0	37.0		1622,,,,	5.2	1.0	11		37	1,8589	1.2+/-3.3	0,1,4294	no	missense,intron,intron,intron,intron	RBM14,RBM14-RBM4	NM_006328.3,NM_001198836.1,NM_001198837.1,NM_001198845.1,NM_001198846.1	29,,,,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,,,,	541/670,,,,	66392969	1,12989	2200	4295	6495	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.chr11:66392969G>A	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.1622G>A	11.37:g.66392969G>A	ENSP00000311747:p.Arg541His					RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	p.R541H	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN			2	1761	+			541			Ala-rich.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1622G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246829	0.39697	0.0	1.16E-4	ENSG00000239306	ENST00000310137	D	0.84070	-1.8	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.81508	0.4837	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	D	0.69479	0.964	D	0.84998	0.0898	10	0.87932	D	0	-2.0699	14.1553	0.65413	0.0:0.0:1.0:0.0	.	541	Q96PK6	RBM14_HUMAN	H	541	ENSP00000311747:R541H	ENSP00000311747:R541H	R	+	2	0	RBM14	66149545	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.158000	0.58150	2.720000	0.93068	0.655000	0.94253	CGC		0.657	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1		NM_006328		14	110	0	0	0	0.006122	0	14	110		
RBM4	5936	broad.mit.edu	37	11	66407491	66407491	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:66407491G>A	ENST00000409406.1	+	1	1086	c.309G>A	c.(307-309)ccG>ccA	p.P103P	RBM4_ENST00000532968.1_Silent_p.P103P|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000530235.1_Silent_p.P103P|RBM4_ENST00000506523.2_Silent_p.P103P|RBM4_ENST00000483858.1_Silent_p.P103P|RBM4_ENST00000398692.4_Silent_p.P103P|RBM4_ENST00000396053.4_Silent_p.P103P|RBM4_ENST00000408993.2_Silent_p.P103P|RBM4_ENST00000503028.2_Silent_p.P103P|RBM4_ENST00000310092.7_Silent_p.P103P|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000578778.1_Silent_p.P103P			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	103	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AGTATGGTCCGGTCATCGAAT	0.498																																						uc009yrj.2		NaN																	0				ovary(1)	1						c.(307-309)CCG>CCA		RNA binding motif protein 4							161.0	148.0	152.0					11																	66407491		2200	4295	6495	SO:0001819	synonymous_variant	5936				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding	g.chr11:66407491G>A	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.309G>A	11.37:g.66407491G>A						RBM4_uc009yrk.2_Intron|RBM4_uc001oiv.2_Silent_p.P103P|RBM4_uc001oiw.1_Silent_p.P103P|RBM4_uc001oix.1_Silent_p.P103P|RBM4_uc010rpj.1_Silent_p.P103P|RBM4_uc001oiy.1_Silent_p.P103P|RBM4_uc001oiz.1_Silent_p.P103P	p.P103P	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN		Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	2	797	+			103			RRM 2.		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Silent	SNP	ENST00000409406.1	37	c.309G>A	CCDS41676.1																																																																																				0.498	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1		NM_002896		187	118	0	0	0	0.01441	0	187	118		
SUV420H1	51111	broad.mit.edu	37	11	67934619	67934619	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:67934619C>G	ENST00000304363.4	-	10	1357	c.1004G>C	c.(1003-1005)aGa>aCa	p.R335T	SUV420H1_ENST00000402185.2_Missense_Mutation_p.R312T|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R335T|SUV420H1_ENST00000402789.1_Missense_Mutation_p.R335T|SUV420H1_ENST00000405515.1_Missense_Mutation_p.R335T	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	335					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CAGTCCCACTCTGGATTTAAA	0.408																																						uc001onm.1		NaN																	0				ovary(2)|kidney(1)	3						c.(1003-1005)AGA>ACA		suppressor of variegation 4-20 homolog 1 isoform							45.0	42.0	43.0					11																	67934619		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67934619C>G	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1004G>C	11.37:g.67934619C>G	ENSP00000305899:p.Arg335Thr					SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.R163T|SUV420H1_uc009ysf.2_Missense_Mutation_p.R95T|SUV420H1_uc001ono.1_Missense_Mutation_p.R335T|SUV420H1_uc001onp.2_Missense_Mutation_p.R335T|SUV420H1_uc010rqa.1_Missense_Mutation_p.R312T|SUV420H1_uc001onq.2_Missense_Mutation_p.R335T	p.R335T	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			10	1260	-			335					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.1004G>C	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259938	0.59321	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185	T;T;T;T;T	0.48522	0.81;0.84;0.84;0.83;0.84	5.6	5.6	0.85130	.	0.048766	0.85682	D	0.000000	T	0.63593	0.2524	L	0.43923	1.385	0.58432	D	0.999997	B;B;P;D	0.63880	0.239;0.227;0.557;0.993	B;B;B;D	0.72338	0.093;0.093;0.215;0.977	T	0.62812	-0.6775	10	0.54805	T	0.06	-26.2736	19.6142	0.95626	0.0:1.0:0.0:0.0	.	312;335;335;335	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	T	335;335;335;335;312	ENSP00000305899:R335T;ENSP00000385965:R335T;ENSP00000385640:R335T;ENSP00000385005:R335T;ENSP00000384724:R312T	ENSP00000305899:R335T	R	-	2	0	SUV420H1	67691195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.393000	0.66279	2.631000	0.89168	0.585000	0.79938	AGA		0.408	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1		NM_017635		9	76	0	0	0	0.006214	0	9	76		
FGF3	2248	broad.mit.edu	37	11	69631101	69631101	+	Missense_Mutation	SNP	C	C	T	rs150581924		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:69631101C>T	ENST00000334134.2	-	2	401	c.311G>A	c.(310-312)cGa>cAa	p.R104Q		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	104					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|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)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGCATAGAGTCGTCCCCTCTT	0.597																																						uc001oph.2		NaN																	0				ovary(1)|lung(1)	2						c.(310-312)CGA>CAA		fibroblast growth factor 3 precursor							158.0	131.0	140.0					11																	69631101		2200	4294	6494	SO:0001583	missense	2248				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	g.chr11:69631101C>T		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.311G>A	11.37:g.69631101C>T	ENSP00000334122:p.Arg104Gln						p.R104Q	NM_005247	NP_005238	P11487	FGF3_HUMAN	LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		2	802	-			104					Q0VG69	Missense_Mutation	SNP	ENST00000334134.2	37	c.311G>A	CCDS8195.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535009	0.85812	.	.	ENSG00000186895	ENST00000334134	D	0.82255	-1.59	4.83	3.92	0.45320	.	0.231449	0.40302	N	0.001124	D	0.86843	0.6030	L	0.49640	1.575	0.52501	D	0.999951	D	0.76494	0.999	D	0.66847	0.947	D	0.85493	0.1186	9	.	.	.	.	12.9627	0.58468	0.0:0.921:0.0:0.079	.	104	P11487	FGF3_HUMAN	Q	104	ENSP00000334122:R104Q	.	R	-	2	0	FGF3	69340038	1.000000	0.71417	0.981000	0.43875	0.902000	0.53008	4.556000	0.60775	1.034000	0.39945	0.555000	0.69702	CGA		0.597	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1		NM_005247		62	888	0	0	0	0.01441	0	62	888		
USP35	57558	broad.mit.edu	37	11	77907438	77907438	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:77907438C>T	ENST00000529308.1	+	2	408	c.147C>T	c.(145-147)taC>taT	p.Y49Y	USP35_ENST00000441408.2_5'Flank|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_5'Flank|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	49					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CGCGCCTCTACGTGGGCGGCG	0.766																																						uc009yva.1		NaN																	0				lung(2)|ovary(1)	3						c.(145-147)TAC>TAT		ubiquitin specific protease 35							10.0	11.0	10.0					11																	77907438		1623	3510	5133	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77907438C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.147C>T	11.37:g.77907438C>T						USP35_uc001oze.2_Intron|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Translation_Start_Site|USP35_uc001ozf.2_5'Flank	p.Y49Y	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		2	393	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		49						Silent	SNP	ENST00000529308.1	37	c.147C>T	CCDS41693.1																																																																																				0.766	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1		XM_290527		8	57	0	0	0	0.006214	0	8	57		
MRE11A	4361	broad.mit.edu	37	11	94194101	94194101	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:94194101C>G	ENST00000323929.3	-	12	1549		c.e12+1		MRE11A_ENST00000323977.3_Splice_Site|MRE11A_ENST00000393241.4_Splice_Site|MRE11A_ENST00000407439.3_Splice_Site	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)						base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TAAGAAATTACCTTCTCTGCG	0.318								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													uc001peu.2		NaN																	0				breast(4)|lung(1)	5						c.e12+1	Homologous_recombination	meiotic recombination 11 homolog A isoform 1							96.0	94.0	94.0					11																	94194101		2199	4297	6496	SO:0001630	splice_region_variant	4361	Ataxia-Telangiectasia-Like_Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94194101C>G	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1326+1G>C	11.37:g.94194101C>G						MRE11A_uc001pev.2_Splice_Site_p.K442_splice|MRE11A_uc009ywj.2_Splice_Site_p.K445_splice	p.K442_splice	NM_005591	NP_005582	P49959	MRE11_HUMAN			12	1515	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)						O43475	Splice_Site	SNP	ENST00000323929.3	37	c.1326_splice	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528540	0.85706	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5347	0.95244	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRE11A	93833749	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.124000	0.77185	2.619000	0.88677	0.585000	0.79938	.		0.318	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3		NM_005591	Intron	7	15	0	0	0	0.001984	0	7	15		
EXPH5	23086	broad.mit.edu	37	11	108384189	108384189	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:108384189G>A	ENST00000265843.4	-	6	2155	c.2045C>T	c.(2044-2046)tCt>tTt	p.S682F	EXPH5_ENST00000443411.1_Missense_Mutation_p.S494F|EXPH5_ENST00000525344.1_Missense_Mutation_p.S675F|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.S606F	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	682					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGAGGCAGAGAGTCAACTGA	0.413																																						uc001pkk.2		NaN																	0				skin(3)|ovary(2)	5						c.(2044-2046)TCT>TTT		exophilin 5 isoform a							119.0	115.0	117.0					11																	108384189		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384189G>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2045C>T	11.37:g.108384189G>A	ENSP00000265843:p.Ser682Phe					EXPH5_uc010rvy.1_Missense_Mutation_p.S494F|EXPH5_uc010rvz.1_Missense_Mutation_p.S526F|EXPH5_uc010rwa.1_Missense_Mutation_p.S606F	p.S682F	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	2156	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	682					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.2045C>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198756	0.38806	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.08546	3.65;3.57;3.42;3.65;3.46;3.08	6.04	2.99	0.34606	.	0.456547	0.20739	N	0.086578	T	0.09774	0.0240	M	0.66939	2.045	0.09310	N	1	B	0.24368	0.102	B	0.24155	0.051	T	0.29427	-1.0012	10	0.87932	D	0	-0.647	4.4212	0.11481	0.0803:0.1389:0.5858:0.1951	.	682	Q8NEV8	EXPH5_HUMAN	F	682;606;494;675;526;606;494	ENSP00000265843:S682F;ENSP00000391966:S606F;ENSP00000411390:S494F;ENSP00000432546:S675F;ENSP00000432683:S606F;ENSP00000446434:S494F	ENSP00000265843:S682F	S	-	2	0	EXPH5	107889399	0.000000	0.05858	0.001000	0.08648	0.186000	0.23388	0.171000	0.16685	0.326000	0.23384	0.563000	0.77884	TCT		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1		NM_015065		32	45	0	0	0	0.013726	0	32	45		
TECTA	7007	broad.mit.edu	37	11	121008294	121008294	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:121008294T>G	ENST00000392793.1	+	11	3377	c.3106T>G	c.(3106-3108)Tgt>Ggt	p.C1036G	TECTA_ENST00000264037.2_Missense_Mutation_p.C1036G			O75443	TECTA_HUMAN	tectorin alpha	1036	TIL 2.		C -> Y (in DFNA12). {ECO:0000269|PubMed:21520338}.		cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCGGAGTGAGTGTGGCTGCAA	0.572																																						uc010rzo.1		NaN																	0				breast(6)|ovary(2)|skin(2)	10						c.(3106-3108)TGT>GGT		tectorin alpha precursor							127.0	100.0	109.0					11																	121008294		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121008294T>G	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3106T>G	11.37:g.121008294T>G	ENSP00000376543:p.Cys1036Gly						p.C1036G	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	10	3106	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1036			TIL 2.			Missense_Mutation	SNP	ENST00000392793.1	37	c.3106T>G	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.154628	0.78114	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.99527	-6.09;-6.09	5.23	5.23	0.72850	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.050407	0.85682	D	0.000000	D	0.99718	0.9891	H	0.97758	4.07	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	D	0.97160	0.9837	10	0.87932	D	0	.	15.1423	0.72620	0.0:0.0:0.0:1.0	.	1036	O75443	TECTA_HUMAN	G	1036	ENSP00000376543:C1036G;ENSP00000264037:C1036G	ENSP00000264037:C1036G	C	+	1	0	TECTA	120513504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.005000	0.88553	1.969000	0.57287	0.533000	0.62120	TGT		0.572	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		NM_005422		17	32	0	0	0	0.008871	0	17	32		
CRACR2A	84766	broad.mit.edu	37	12	3806003	3806003	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:3806003C>A	ENST00000252322.1	-	4	631	c.163G>T	c.(163-165)Gca>Tca	p.A55S	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.A55S|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.A55S	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		55	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AACTCCTGTGCCTTCCTCAGC	0.597																																						uc001qmj.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(163-165)GCA>TCA		EF-hand calcium binding domain 4B isoform c							138.0	96.0	110.0					12																	3806003		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3806003C>A																												ENST00000252322.1:c.163G>T	12.37:g.3806003C>A	ENSP00000252322:p.Ala55Ser					EFCAB4B_uc010sen.1_Missense_Mutation_p.A55S|EFCAB4B_uc010seo.1_Missense_Mutation_p.A55S	p.A55S	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		4	735	-			55			EF-hand 1.		B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.163G>T	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042326	0.55003	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.72282	1.95;-0.64;1.95	5.42	4.52	0.55395	EF-hand-like domain (1);	0.165440	0.53938	N	0.000048	T	0.80071	0.4556	M	0.62016	1.91	0.30405	N	0.779616	D;D;D	0.76494	0.984;0.997;0.999	P;D;D	0.80764	0.813;0.926;0.994	T	0.77720	-0.2482	10	0.41790	T	0.15	-5.8699	11.4843	0.50344	0.1797:0.8203:0.0:0.0	.	55;55;55	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	S	55	ENSP00000409382:A55S;ENSP00000412496:A55S;ENSP00000252322:A55S	ENSP00000252322:A55S	A	-	1	0	EFCAB4B	3676264	1.000000	0.71417	0.967000	0.41034	0.116000	0.19942	1.818000	0.39012	1.260000	0.44134	0.643000	0.83706	GCA		0.597	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1				18	82	1	0	0.000175454	0.010504	0.000177404	18	82		
ANO2	57101	broad.mit.edu	37	12	5848494	5848494	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:5848494C>T	ENST00000356134.5	-	14	1485	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	ANO2_ENST00000546188.1_Missense_Mutation_p.E472K|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000327087.8_Missense_Mutation_p.E471K	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	476					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCTTCCTCTTCTATGCCAGTC	0.433																																						uc001qnm.2		NaN																	0				ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(1411-1413)GAA>AAA		anoctamin 2							71.0	73.0	72.0					12																	5848494		1917	4128	6045	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5848494C>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1414G>A	12.37:g.5848494C>T	ENSP00000348453:p.Glu472Lys						p.E471K	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			13	1483	-			476			Cytoplasmic (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1411G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.129706	0.94473	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	M	0.86097	2.795	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.84639	0.0694	10	0.72032	D	0.01	.	16.85	0.85991	0.0:1.0:0.0:0.0	.	471	Q9NQ90-3	.	K	471;472;472;476;35	ENSP00000314048:E471K;ENSP00000348453:E472K;ENSP00000440981:E472K;ENSP00000443813:E35K	ENSP00000314048:E471K	E	-	1	0	ANO2	5718755	1.000000	0.71417	0.996000	0.52242	0.949000	0.60115	7.600000	0.82769	2.438000	0.82558	0.561000	0.74099	GAA		0.433	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4		NM_020373		3	13	0	0	0	0.004672	0	3	13		
A2ML1	144568	broad.mit.edu	37	12	9004565	9004565	+	Missense_Mutation	SNP	G	G	A	rs375671514		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:9004565G>A	ENST00000299698.7	+	19	2600	c.2420G>A	c.(2419-2421)cGt>cAt	p.R807H	A2ML1_ENST00000539547.1_Missense_Mutation_p.R316H	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GAATCCTTTCGTCTTACTGCC	0.507																																						uc001quz.3		NaN																	0				ovary(2)|skin(1)	3						c.(2419-2421)CGT>CAT		alpha-2-macroglobulin-like 1 precursor							181.0	169.0	173.0					12																	9004565		1943	4148	6091	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9004565G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2420G>A	12.37:g.9004565G>A	ENSP00000299698:p.Arg807His					A2ML1_uc001qva.1_Missense_Mutation_p.R387H|A2ML1_uc010sgm.1_Missense_Mutation_p.R307H	p.R807H	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			19	2518	+			651						Missense_Mutation	SNP	ENST00000299698.7	37	c.2420G>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567681	0.45798	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.26518	1.73;1.73;1.73	3.7	1.54	0.23209	Alpha-2-macroglobulin (1);	0.553935	0.15118	N	0.279550	T	0.24928	0.0605	N	0.20685	0.6	0.09310	N	1	D	0.71674	0.998	D	0.64877	0.93	T	0.06716	-1.0811	10	0.42905	T	0.14	.	2.1624	0.03828	0.114:0.3188:0.3784:0.1888	.	807	A8K2U0	A2ML1_HUMAN	H	807;807;357;316	ENSP00000299698:R807H;ENSP00000443174:R357H;ENSP00000438292:R316H	ENSP00000299698:R807H	R	+	2	0	A2ML1	8895832	0.000000	0.05858	0.858000	0.33744	0.809000	0.45718	-0.148000	0.10219	0.833000	0.34828	0.436000	0.28706	CGT		0.507	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3		NM_144670		41	173	0	0	0	0.007835	0	41	173		
ETV6	2120	broad.mit.edu	37	12	12022825	12022825	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:12022825G>A	ENST00000396373.4	+	5	1205	c.931G>A	c.(931-933)Gac>Aac	p.D311N		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	311					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCATCGGGAAGACCTGGCTTA	0.582			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	uc001qzz.2		NaN		Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5		congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL	ETV6/NTRK3(234)|ETV6/JAK2(11)	0				soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250						c.(931-933)GAC>AAC		ets variant 6							103.0	105.0	104.0					12																	12022825		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12022825G>A	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.931G>A	12.37:g.12022825G>A	ENSP00000379658:p.Asp311Asn					ETV6_uc001raa.1_Missense_Mutation_p.D104N	p.D311N	NM_001987	NP_001978	P41212	ETV6_HUMAN			5	1205	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	311					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.931G>A	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831517	0.71258	.	.	ENSG00000139083	ENST00000396373	T	0.04234	3.67	5.76	5.76	0.90799	.	0.139556	0.64402	D	0.000004	T	0.13329	0.0323	L	0.51422	1.61	0.54753	D	0.999988	D;B	0.56746	0.977;0.049	P;B	0.55923	0.787;0.039	T	0.09465	-1.0673	10	0.21014	T	0.42	.	19.571	0.95419	0.0:0.0:1.0:0.0	.	15;311	Q0ZHH2;P41212	.;ETV6_HUMAN	N	311	ENSP00000379658:D311N	ENSP00000379658:D311N	D	+	1	0	ETV6	11914092	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.604000	0.90877	2.713000	0.92767	0.655000	0.94253	GAC		0.582	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2		NM_001987		81	116	0	0	0	0.01441	0	81	116		
ETV6	2120	broad.mit.edu	37	12	12022873	12022873	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:12022873G>C	ENST00000396373.4	+	5	1253	c.979G>C	c.(979-981)Gag>Cag	p.E327Q		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	327					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCCGCCTGAAGAGCACGCCAT	0.582			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	uc001qzz.2		NaN		Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5		congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL	ETV6/NTRK3(234)|ETV6/JAK2(11)	0				soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250						c.(979-981)GAG>CAG		ets variant 6							82.0	86.0	85.0					12																	12022873		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12022873G>C	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.979G>C	12.37:g.12022873G>C	ENSP00000379658:p.Glu327Gln					ETV6_uc001raa.1_Missense_Mutation_p.E120Q	p.E327Q	NM_001987	NP_001978	P41212	ETV6_HUMAN			5	1253	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	327					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.979G>C	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.572353	0.65765	.	.	ENSG00000139083	ENST00000396373	T	0.04654	3.58	5.76	5.76	0.90799	.	0.104292	0.64402	D	0.000002	T	0.08268	0.0206	L	0.27053	0.805	0.53688	D	0.99997	D;B	0.61080	0.989;0.008	P;B	0.52957	0.714;0.012	T	0.49113	-0.8973	10	0.11182	T	0.66	.	19.571	0.95419	0.0:0.0:1.0:0.0	.	31;327	Q0ZHH2;P41212	.;ETV6_HUMAN	Q	327	ENSP00000379658:E327Q	ENSP00000379658:E327Q	E	+	1	0	ETV6	11914140	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.604000	0.90877	2.713000	0.92767	0.655000	0.94253	GAG		0.582	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2		NM_001987		68	86	0	0	0	0.01441	0	68	86		
LOH12CR1	118426	broad.mit.edu	37	12	12514236	12514236	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:12514236A>T	ENST00000314565.4	+	2	486	c.155A>T	c.(154-156)gAt>gTt	p.D52V	LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.D33V	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	52										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		AACGATCCCGATGTCATCAAG	0.488																																						uc001ral.2		NaN																	0				ovary(1)	1						c.(154-156)GAT>GTT		LOH1CR12							195.0	177.0	183.0					12																	12514236		2203	4300	6503	SO:0001583	missense	118426							g.chr12:12514236A>T	AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.155A>T	12.37:g.12514236A>T	ENSP00000321546:p.Asp52Val					LOH12CR1_uc009zhu.2_Intron	p.D52V	NM_058169	NP_477517	Q969J3	L12R1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0205)	2	521	+		Prostate(47;0.0802)	52					Q96QS5	Missense_Mutation	SNP	ENST00000314565.4	37	c.155A>T	CCDS8649.1	.	.	.	.	.	.	.	.	.	.	a	24.1	4.498522	0.85069	.	.	ENSG00000165714	ENST00000542728;ENST00000314565	T;T	0.36520	1.3;1.25	6.01	6.01	0.97437	.	0.084783	0.85682	D	0.000000	T	0.47060	0.1425	L	0.58101	1.795	0.80722	D	1	D	0.54047	0.964	P	0.49752	0.621	T	0.48958	-0.8988	10	0.87932	D	0	-11.8913	16.2058	0.82131	1.0:0.0:0.0:0.0	.	52	Q969J3	L12R1_HUMAN	V	33;52	ENSP00000443023:D33V;ENSP00000321546:D52V	ENSP00000321546:D52V	D	+	2	0	LOH12CR1	12405503	1.000000	0.71417	0.948000	0.38648	0.931000	0.56810	8.847000	0.92166	2.308000	0.77769	0.529000	0.55759	GAT		0.488	LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1				35	230	0	0	0	0.012213	0	35	230		
GALNT6	11226	broad.mit.edu	37	12	51757940	51757940	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:51757940C>T	ENST00000543196.2	-	5	1219	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	GALNT6_ENST00000356317.3_Silent_p.E338E			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	338					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCCTCTGCTTCTCATGTGGAG	0.587																																						uc001ryk.2		NaN																	0				ovary(2)	2						c.(1012-1014)GAG>GAA		polypeptide N-acetylgalactosaminyltransferase 6							123.0	118.0	120.0					12																	51757940		2203	4300	6503	SO:0001819	synonymous_variant	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51757940C>T	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1014G>A	12.37:g.51757940C>T						GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Silent_p.E338E	p.E338E	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN			5	1239	-			338			Lumenal (Potential).		Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	c.1014G>A	CCDS8813.1																																																																																				0.587	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1		NM_007210		64	105	0	0	0	0.01441	0	64	105		
OR6C6	283365	broad.mit.edu	37	12	55688992	55688992	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:55688992C>G	ENST00000358433.2	-	1	24	c.25G>C	c.(25-27)Gag>Cag	p.E9Q		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	9						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(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGAATGAACTCTATTTCCATT	0.318																																						uc010sph.1		NaN																	0				large_intestine(1)|skin(1)	2						c.(25-27)GAG>CAG		olfactory receptor, family 6, subfamily C,							100.0	98.0	99.0					12																	55688992		2203	4300	6503	SO:0001583	missense	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688992C>G		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.25G>C	12.37:g.55688992C>G	ENSP00000351211:p.Glu9Gln						p.E9Q	NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN			1	25	-			9			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000358433.2	37	c.25G>C	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	8.560	0.877456	0.17395	.	.	ENSG00000188324	ENST00000358433	T	0.01126	5.3	4.02	-0.56	0.11789	.	1.152820	0.06671	N	0.766130	T	0.02012	0.0063	M	0.80847	2.515	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.47433	-0.9118	10	0.44086	T	0.13	.	2.35	0.04281	0.2214:0.4856:0.1269:0.1661	.	9	A6NF89	OR6C6_HUMAN	Q	9	ENSP00000351211:E9Q	ENSP00000351211:E9Q	E	-	1	0	OR6C6	53975259	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.543000	0.06084	0.095000	0.17434	-0.244000	0.11960	GAG		0.318	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1				19	46	0	0	0	0.014323	0	19	46		
MBD6	114785	broad.mit.edu	37	12	57921371	57921371	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:57921371C>G	ENST00000355673.3	+	8	2520	c.2164C>G	c.(2164-2166)Ctg>Gtg	p.L722V	MBD6_ENST00000431731.2_Missense_Mutation_p.L722V	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	722	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GGCCTCCTCTCTGGGCAAGGC	0.602																																						uc001soj.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(2164-2166)CTG>GTG		methyl-CpG binding domain protein 6							78.0	88.0	85.0					12																	57921371		2203	4300	6503	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57921371C>G	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2164C>G	12.37:g.57921371C>G	ENSP00000347896:p.Leu722Val					MBD6_uc001sok.1_Missense_Mutation_p.L589V|MBD6_uc001sol.1_RNA	p.L722V	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			8	2388	+			722			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.2164C>G	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.649848	0.29336	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.66	2.75	0.32379	.	0.335215	0.21129	N	0.079686	T	0.31575	0.0801	N	0.08118	0	0.34185	D	0.671418	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.29912	-0.9996	9	0.40728	T	0.16	0.573	12.3517	0.55153	0.0:0.6734:0.3266:0.0	.	722;722	Q6P0P0;Q96DN6	.;MBD6_HUMAN	V	722;722;186	.	ENSP00000300263:L186V	L	+	1	2	MBD6	56207638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.706000	0.37878	0.653000	0.30826	0.549000	0.68633	CTG		0.602	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1				218	346	0	0	0	0.01441	0	218	346		
MON2	23041	broad.mit.edu	37	12	62929388	62929388	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:62929388C>T	ENST00000393632.2	+	14	2190	c.1799C>T	c.(1798-1800)tCa>tTa	p.S600L	MON2_ENST00000552738.1_Missense_Mutation_p.S600L|MON2_ENST00000393630.3_Missense_Mutation_p.S600L|MON2_ENST00000280379.6_Missense_Mutation_p.S600L|MON2_ENST00000546600.1_Missense_Mutation_p.S600L|MON2_ENST00000393629.2_Missense_Mutation_p.S600L|MON2_ENST00000552115.1_Missense_Mutation_p.S600L	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	600					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CTTGTAACTTCAAGAGATGCC	0.413																																						uc001sre.2		NaN																	0				central_nervous_system(2)	2						c.(1798-1800)TCA>TTA		MON2 homolog							113.0	107.0	109.0					12																	62929388		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62929388C>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.1799C>T	12.37:g.62929388C>T	ENSP00000377252:p.Ser600Leu					MON2_uc009zqj.2_Missense_Mutation_p.S600L|MON2_uc010ssl.1_Missense_Mutation_p.S528L|MON2_uc010ssm.1_Missense_Mutation_p.S600L|MON2_uc010ssn.1_Missense_Mutation_p.S600L|MON2_uc001srf.2_Missense_Mutation_p.S363L	p.S600L	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	14	2190	+			600					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.1799C>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164811	0.78339	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.55234	0.54;0.54;0.54;0.54;0.53;0.54;1.64	5.34	5.34	0.76211	.	0.076392	0.56097	D	0.000024	T	0.38639	0.1048	N	0.14661	0.345	0.53005	D	0.999965	B;B;B;B	0.26081	0.049;0.013;0.017;0.141	B;B;B;B	0.26094	0.03;0.017;0.022;0.066	T	0.16897	-1.0387	9	.	.	.	-12.4412	19.408	0.94656	0.0:1.0:0.0:0.0	.	600;600;600;600	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	L	600;600;600;600;528;600;600;600	ENSP00000377252:S600L;ENSP00000377250:S600L;ENSP00000280379:S600L;ENSP00000447407:S600L;ENSP00000449215:S600L;ENSP00000377249:S600L;ENSP00000446635:S600L	.	S	+	2	0	MON2	61215655	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.750000	0.85110	2.643000	0.89663	0.650000	0.86243	TCA		0.413	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3		NM_015026		55	63	0	0	0	0.01441	0	55	63		
EEA1	8411	broad.mit.edu	37	12	93258690	93258690	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:93258690T>C	ENST00000322349.8	-	3	455	c.191A>G	c.(190-192)cAt>cGt	p.H64R	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	64					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ACCAGCATCATGAACAGCTTC	0.378																																						uc001tck.2		NaN																	0				ovary(2)|skin(1)	3						c.(190-192)CAT>CGT		early endosome antigen 1, 162kD							109.0	100.0	103.0					12																	93258690		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93258690T>C	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.191A>G	12.37:g.93258690T>C	ENSP00000317955:p.His64Arg						p.H64R	NM_003566	NP_003557	Q15075	EEA1_HUMAN			3	456	-			64			C2H2-type.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.191A>G	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.570038	0.65765	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	T	0.75821	-0.97	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.56097	D	0.000037	D	0.86777	0.6014	M	0.85859	2.78	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.86630	0.1885	10	0.34782	T	0.22	.	15.6516	0.77099	0.0:0.0:0.0:1.0	.	64	Q15075	EEA1_HUMAN	R	64;63	ENSP00000317955:H64R	ENSP00000317955:H64R	H	-	2	0	EEA1	91782821	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	6.998000	0.76277	2.100000	0.63781	0.528000	0.53228	CAT		0.378	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1		NM_003566		33	61	0	0	0	0.010818	0	33	61		
CFAP54	144535	broad.mit.edu	37	12	97051735	97051735	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:97051735C>G	ENST00000524981.4	+	37	5199	c.5176C>G	c.(5176-5178)Ctt>Gtt	p.L1726V				Q96N23	CL055_HUMAN		0																	TGGTTCTAGTCTTACCTTTGA	0.353																																						uc001tet.1		NaN																	0				skin(6)|ovary(1)	7						c.(451-453)CTT>GTT		hypothetical protein LOC374467							144.0	152.0	149.0					12																	97051735		2203	4300	6503	SO:0001583	missense	374467							g.chr12:97051735C>G																												ENST00000524981.4:c.5176C>G	12.37:g.97051735C>G	ENSP00000431759:p.Leu1726Val						p.L151V	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			4	529	+			151						Missense_Mutation	SNP	ENST00000524981.4	37	c.451C>G		.	.	.	.	.	.	.	.	.	.	C	15.64	2.893039	0.52121	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.04	2.17	0.27698	.	0.368015	0.23288	N	0.049832	T	0.57272	0.2042	M	0.65498	2.005	0.29238	N	0.872815	D	0.56035	0.974	P	0.57009	0.811	T	0.56463	-0.7975	9	0.72032	D	0.01	-5.8071	9.8579	0.41096	0.0:0.7773:0.0:0.2227	.	151	Q6ZTY8	CL063_HUMAN	V	1726;151	.	ENSP00000345466:L151V	L	+	1	0	C12orf63	95575866	1.000000	0.71417	0.954000	0.39281	0.778000	0.44026	1.088000	0.30877	0.640000	0.30582	0.462000	0.41574	CTT		0.353	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4				38	145	0	0	0	0.007835	0	38	145		
CFAP54	144535	broad.mit.edu	37	12	97051869	97051869	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:97051869C>T	ENST00000524981.4	+	37	5333	c.5310C>T	c.(5308-5310)ttC>ttT	p.F1770F				Q96N23	CL055_HUMAN		0																	CCATTCAGTTCAATACAGTTT	0.303																																						uc001tet.1		NaN																	0				skin(6)|ovary(1)	7						c.(583-585)TTC>TTT		hypothetical protein LOC374467							63.0	66.0	65.0					12																	97051869		2203	4300	6503	SO:0001819	synonymous_variant	374467							g.chr12:97051869C>T																												ENST00000524981.4:c.5310C>T	12.37:g.97051869C>T							p.F195F	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			4	663	+			195						Silent	SNP	ENST00000524981.4	37	c.585C>T																																																																																					0.303	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4				10	50	0	0	0	0.010729	0	10	50		
PAH	5053	broad.mit.edu	37	12	103288533	103288533	+	Missense_Mutation	SNP	C	C	T	rs199475570		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:103288533C>T	ENST00000553106.1	-	3	804	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Missense_Mutation_p.R106Q	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	111	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTCTTATCTCGTGAAAGCTC	0.383																																						uc001tjq.1		NaN																	0				ovary(4)	4						c.(331-333)CGA>CAA		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						122.0	120.0	121.0					12																	103288533		2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103288533C>T	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.332G>A	12.37:g.103288533C>T	ENSP00000448059:p.Arg111Gln					PAH_uc010swc.1_Missense_Mutation_p.R111Q	p.R111Q	NM_000277	NP_000268	P00439	PH4H_HUMAN			4	804	-			111					Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.332G>A	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	C	36	5.908168	0.97093	.	.	ENSG00000171759	ENST00000553106;ENST00000307000;ENST00000551337;ENST00000546844	D;D;D;D	0.99462	-5.76;-5.94;-4.64;-5.73	6.17	6.17	0.99709	Aromatic amino acid hydroxylase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	M	0.79011	2.435	0.80722	D	1	D;D	0.76494	0.984;0.999	P;D	0.65874	0.841;0.939	D	0.99744	1.1016	10	0.34782	T	0.22	-12.4254	20.8794	0.99867	0.0:1.0:0.0:0.0	.	111;111	B4DPN2;P00439	.;PH4H_HUMAN	Q	111;106;111;111	ENSP00000448059:R111Q;ENSP00000303500:R106Q;ENSP00000447620:R111Q;ENSP00000446658:R111Q	ENSP00000303500:R106Q	R	-	2	0	PAH	101812663	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.028000	0.76470	2.941000	0.99782	0.655000	0.94253	CGA		0.383	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1				18	67	0	0	0	0.006122	0	18	67		
PRDM4	11108	broad.mit.edu	37	12	108147715	108147715	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:108147715C>G	ENST00000228437.5	-	4	776	c.317G>C	c.(316-318)aGa>aCa	p.R106T	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	106					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TAGAATGGTTCTGAAATAACT	0.433																																						uc001tmp.2		NaN																	0				breast(1)|skin(1)	2						c.(316-318)AGA>ACA		PR domain containing 4							95.0	84.0	88.0					12																	108147715		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108147715C>G	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.317G>C	12.37:g.108147715C>G	ENSP00000228437:p.Arg106Thr					PRDM4_uc001tmq.2_RNA	p.R106T	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN			4	754	-			106					Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.317G>C	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142493	0.94560	.	.	ENSG00000110851	ENST00000228437	T	0.17691	2.26	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.04537	-1.0944	10	0.87932	D	0	-17.0324	20.1133	0.97917	0.0:1.0:0.0:0.0	.	106	Q9UKN5	PRDM4_HUMAN	T	106	ENSP00000228437:R106T	ENSP00000228437:R106T	R	-	2	0	PRDM4	106671845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.580000	0.82523	2.762000	0.94881	0.591000	0.81541	AGA		0.433	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1		NM_012406		42	68	0	0	0	0.011902	0	42	68		
ACAD10	80724	broad.mit.edu	37	12	112182844	112182844	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:112182844C>T	ENST00000313698.4	+	13	2267	c.2112C>T	c.(2110-2112)ctC>ctT	p.L704L	ACAD10_ENST00000549590.1_Silent_p.L704L|ACAD10_ENST00000392636.2_Silent_p.L306L|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000455480.2_Silent_p.L735L	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	704						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TCGAAGACCTCAAGGTAAAGC	0.592																																						uc001tsq.2		NaN																	0				ovary(2)	2						c.(2110-2112)CTC>CTT		acyl-Coenzyme A dehydrogenase family, member 10							39.0	43.0	41.0					12																	112182844		2203	4300	6503	SO:0001819	synonymous_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182844C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2112C>T	12.37:g.112182844C>T						ACAD10_uc001tsp.2_Silent_p.L704L|ACAD10_uc009zvx.2_Silent_p.L735L|ACAD10_uc001tss.1_RNA	p.L704L	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			13	2312	+			704					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	c.2112C>T	CCDS31903.1																																																																																				0.592	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1		NM_025247		29	84	0	0	0	0.00632	0	29	84		
HECTD4	283450	broad.mit.edu	37	12	112681690	112681690	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:112681690C>T	ENST00000430131.2	-	29	4516	c.3371G>A	c.(3370-3372)aGa>aAa	p.R1124K	HECTD4_ENST00000550722.1_Missense_Mutation_p.R1400K|HECTD4_ENST00000377560.5_Missense_Mutation_p.R1374K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1124					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)										CTGATTTGCTCTAGTAAATTC	0.458																																						uc009zwc.2		NaN																	0				ovary(1)|lung(1)	2						c.(3370-3372)AGA>AAA		chromosome 12 open reading frame 51							129.0	133.0	132.0					12																	112681690		1974	4182	6156	SO:0001583	missense	283450							g.chr12:112681690C>T	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.3371G>A	12.37:g.112681690C>T	ENSP00000404379:p.Arg1124Lys						p.R1124K	NM_001109662	NP_001103132					23	3389	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.3371G>A		.	.	.	.	.	.	.	.	.	.	C	19.09	3.759257	0.69763	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.42513	0.97;0.97;0.97	5.58	5.58	0.84498	.	.	.	.	.	T	0.32556	0.0833	N	0.14661	0.345	0.39506	D	0.968288	B	0.26002	0.139	B	0.24848	0.056	T	0.21518	-1.0243	9	0.72032	D	0.01	.	19.5841	0.95484	0.0:1.0:0.0:0.0	.	1124	Q9Y4D8	K0614_HUMAN	K	1374;1124;1400	ENSP00000366783:R1374K;ENSP00000404379:R1124K;ENSP00000449784:R1400K	ENSP00000366783:R1374K	R	-	2	0	C12orf51	111166073	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.570000	0.67398	2.604000	0.88044	0.655000	0.94253	AGA		0.458	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813		47	171	0	0	0	0.01441	0	47	171		
HECTD4	283450	broad.mit.edu	37	12	112685315	112685315	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:112685315C>T	ENST00000430131.2	-	27	4167	c.3022G>A	c.(3022-3024)Gaa>Aaa	p.E1008K	HECTD4_ENST00000550722.1_Missense_Mutation_p.E1284K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E1258K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1008					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)										AAGGAGACTTCCTTCATTGAA	0.318																																						uc009zwc.2		NaN																	0				ovary(1)|lung(1)	2						c.(3022-3024)GAA>AAA		chromosome 12 open reading frame 51							58.0	53.0	55.0					12																	112685315		1826	4072	5898	SO:0001583	missense	283450							g.chr12:112685315C>T	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.3022G>A	12.37:g.112685315C>T	ENSP00000404379:p.Glu1008Lys						p.E1008K	NM_001109662	NP_001103132					21	3040	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.3022G>A		.	.	.	.	.	.	.	.	.	.	C	29.3	4.993680	0.93167	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.53857	0.6;0.61;0.6	5.32	5.32	0.75619	.	.	.	.	.	T	0.58949	0.2158	N	0.19112	0.55	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.64533	-0.6385	9	0.72032	D	0.01	.	19.0	0.92829	0.0:1.0:0.0:0.0	.	1008	Q9Y4D8	K0614_HUMAN	K	1258;1008;1284	ENSP00000366783:E1258K;ENSP00000404379:E1008K;ENSP00000449784:E1284K	ENSP00000366783:E1258K	E	-	1	0	C12orf51	111169698	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.372000	0.79612	2.479000	0.83701	0.650000	0.86243	GAA		0.318	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813		4	7	0	0	0	0.001168	0	4	7		
TPCN1	53373	broad.mit.edu	37	12	113705698	113705698	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:113705698C>T	ENST00000335509.6	+	5	779	c.465C>T	c.(463-465)ctC>ctT	p.L155L	TPCN1_ENST00000541517.1_Silent_p.L227L|TPCN1_ENST00000550785.1_Silent_p.L227L|TPCN1_ENST00000392569.4_Silent_p.L87L	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	155					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGTTTGAACTCTGCATGAAGT	0.607																																						uc001tuw.2		NaN																	0				skin(2)|ovary(1)	3						c.(463-465)CTC>CTT		two pore segment channel 1 isoform 2							255.0	149.0	185.0					12																	113705698		2203	4300	6503	SO:0001819	synonymous_variant	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113705698C>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.465C>T	12.37:g.113705698C>T						TPCN1_uc001tux.2_Silent_p.L227L|TPCN1_uc010syt.1_Silent_p.L87L	p.L155L	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN			5	762	+			155			Helical; Name=S2 of repeat I; (Potential).		A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	c.465C>T	CCDS31908.1																																																																																				0.607	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3		NM_017901		23	37	0	0	0	0.016522	0	23	37		
UBC	7316	broad.mit.edu	37	12	125396365	125396365	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:125396365C>T	ENST00000538617.1	-	4	1129	c.813G>A	c.(811-813)ttG>ttA	p.L271L	UBC_ENST00000339647.5_Silent_p.L651L|UBC_ENST00000536769.1_Silent_p.L651L|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Silent_p.L575L			P0CG48	UBC_HUMAN	ubiquitin C	651	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CAGCAAAGATCAACCTCTGCT	0.537																																						uc001ugs.3		NaN																	0				ovary(2)	2						c.(1951-1953)TTG>TTA		ubiquitin C							167.0	154.0	158.0					12																	125396365		2203	4300	6503	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125396365C>T		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.813G>A	12.37:g.125396365C>T						UBC_uc001ugr.2_RNA|UBC_uc001ugu.1_Silent_p.L575L|UBC_uc001ugt.2_Silent_p.L499L|UBC_uc001ugv.2_Silent_p.L119L	p.L651L	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	2	2401	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		651			Ubiquitin-like 9.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.1953G>A																																																																																					0.537	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1		NM_021009		123	477	0	0	0	0.01441	0	123	477		
DHX37	57647	broad.mit.edu	37	12	125461982	125461982	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:125461982C>T	ENST00000308736.2	-	5	891	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	DHX37_ENST00000544745.1_Missense_Mutation_p.V52M	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	265	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGCTCGGCCACAGCCTCCATG	0.552																																						uc001ugy.2		NaN																	0				skin(1)	1						c.(793-795)GTG>ATG		DEAH (Asp-Glu-Ala-His) box polypeptide 37							89.0	77.0	81.0					12																	125461982		2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125461982C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.793G>A	12.37:g.125461982C>T	ENSP00000311135:p.Val265Met						p.V265M	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	5	892	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		265			Helicase ATP-binding.		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.793G>A	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373823	0.42105	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.09911	2.93;2.93	5.23	5.23	0.72850	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.239675	0.42172	D	0.000756	T	0.28333	0.0700	M	0.76002	2.32	0.49299	D	0.999778	D	0.63046	0.992	D	0.71184	0.972	T	0.01786	-1.1274	10	0.87932	D	0	-12.6002	7.1879	0.25809	0.0:0.7868:0.0:0.2132	.	265	Q8IY37	DHX37_HUMAN	M	265;52	ENSP00000311135:V265M;ENSP00000439009:V52M	ENSP00000311135:V265M	V	-	1	0	DHX37	124027935	0.999000	0.42202	0.952000	0.39060	0.004000	0.04260	4.159000	0.58157	2.444000	0.82710	0.591000	0.81541	GTG		0.552	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032656		148	144	0	0	0	0.01441	0	148	144		
SFSWAP	6433	broad.mit.edu	37	12	132203998	132203998	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:132203998G>C	ENST00000261674.4	+	4	661		c.e4-1		SFSWAP_ENST00000541286.1_Splice_Site	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family						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						TTTTTATGCAGAAAAAAATGA	0.468																																						uc001uja.1		NaN																	0					0						c.e4-1		splicing factor, arginine/serine-rich 8							69.0	72.0	71.0					12																	132203998		2203	4300	6503	SO:0001630	splice_region_variant	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132203998G>C	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.521-1G>C	12.37:g.132203998G>C						SFRS8_uc010tbn.1_Splice_Site_p.E174_splice|SFRS8_uc001ujb.1_Splice_Site|SFRS8_uc001uiz.1_Splice_Site_p.E48_splice	p.E174_splice	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)	4	661	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)							B2RN45|B7ZM97|F5H6B8|Q6PJF7	Splice_Site	SNP	ENST00000261674.4	37	c.521_splice	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928761	0.73327	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000541286	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0349	0.92972	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SFSWAP	130769951	1.000000	0.71417	0.966000	0.40874	0.945000	0.59286	8.222000	0.89777	2.815000	0.96918	0.561000	0.74099	.		0.468	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1		NM_004592	Intron	52	81	0	0	0	0.01441	0	52	81		
EP400	57634	broad.mit.edu	37	12	132502160	132502160	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:132502160C>T	ENST00000333577.4	+	21	4221	c.4112C>T	c.(4111-4113)cCt>cTt	p.P1371L	EP400_ENST00000330386.6_Missense_Mutation_p.P1335L|EP400_ENST00000332482.4_Missense_Mutation_p.P1298L|EP400_ENST00000389561.2_Missense_Mutation_p.P1335L|EP400_ENST00000389562.2_Missense_Mutation_p.P1334L			Q96L91	EP400_HUMAN	E1A binding protein p400	1371					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGCAACCACCCTGGGCTCGTC	0.607																																						uc001ujn.2		NaN																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(4003-4005)CCT>CTT		E1A binding protein p400							59.0	57.0	58.0					12																	132502160		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132502160C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4112C>T	12.37:g.132502160C>T	ENSP00000333602:p.Pro1371Leu					EP400_uc001ujl.2_Missense_Mutation_p.P1334L|EP400_uc001ujm.2_Missense_Mutation_p.P1335L	p.P1335L	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	19	4039	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1371					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.4004C>T		.	.	.	.	.	.	.	.	.	.	C	14.97	2.693174	0.48202	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.94000	0.8078	H	0.98407	4.225	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;P;D	0.65323	0.934;0.884;0.934	D	0.95814	0.8844	10	0.87932	D	0	.	20.0263	0.97523	0.0:1.0:0.0:0.0	.	1335;1335;1334	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	L	1371;1335;1334;1298;1335;1335;1335	ENSP00000333602:P1371L;ENSP00000374212:P1335L;ENSP00000374213:P1334L;ENSP00000331737:P1298L;ENSP00000330620:P1335L	ENSP00000330620:P1335L	P	+	2	0	EP400	131068113	1.000000	0.71417	0.964000	0.40570	0.304000	0.27724	7.788000	0.85771	2.735000	0.93741	0.655000	0.94253	CCT		0.607	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		95	141	0	0	0	0.01441	0	95	141		
POLE	5426	broad.mit.edu	37	12	133218793	133218793	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:133218793C>T	ENST00000320574.5	-	38	5186	c.5143G>A	c.(5143-5145)Gag>Aag	p.E1715K	POLE_ENST00000535270.1_Missense_Mutation_p.E1688K|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1715					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTGTTGATCTCAACAGTGGCT	0.557								DNA polymerases (catalytic subunits)																														uc001uks.1		NaN																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(5143-5145)GAG>AAG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							117.0	118.0	118.0					12																	133218793		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133218793C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5143G>A	12.37:g.133218793C>T	ENSP00000322570:p.Glu1715Lys					POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.E519K|POLE_uc010tbq.1_RNA	p.E1715K	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	38	5187	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1715					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.5143G>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046033	0.75846	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.21543	2.0;2.0;2.0	5.43	5.43	0.79202	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	M	0.86953	2.85	0.80722	D	1	P	0.51933	0.949	P	0.53035	0.716	T	0.49753	-0.8906	10	0.06757	T	0.87	.	19.2593	0.93961	0.0:1.0:0.0:0.0	.	1715	Q07864	DPOE1_HUMAN	K	1715;1726;1688	ENSP00000322570:E1715K;ENSP00000406383:E1726K;ENSP00000445753:E1688K	ENSP00000322570:E1715K	E	-	1	0	POLE	131728866	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	7.405000	0.80007	2.557000	0.86248	0.655000	0.94253	GAG		0.557	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2		NM_006231		96	113	0	0	0	0.01441	0	96	113		
POLE	5426	broad.mit.edu	37	12	133219161	133219161	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:133219161C>G	ENST00000320574.5	-	37	4926	c.4883G>C	c.(4882-4884)gGa>gCa	p.G1628A	POLE_ENST00000535270.1_Missense_Mutation_p.G1601A|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1628					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCGCCGGGCTCCATGGCGCTG	0.582								DNA polymerases (catalytic subunits)																														uc001uks.1		NaN																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(4882-4884)GGA>GCA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							56.0	55.0	55.0					12																	133219161		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133219161C>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4883G>C	12.37:g.133219161C>G	ENSP00000322570:p.Gly1628Ala					POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.G432A|POLE_uc010tbq.1_RNA	p.G1628A	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	37	4927	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1628					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4883G>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	9.200	1.028171	0.19512	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.20598	2.06;2.06;2.06	5.51	3.53	0.40419	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.150170	0.64402	N	0.000013	T	0.09949	0.0244	N	0.05199	-0.095	0.48236	D	0.999616	B	0.06786	0.001	B	0.12837	0.008	T	0.13926	-1.0491	10	0.02654	T	1	.	16.9209	0.86164	0.0:0.6742:0.3257:0.0	.	1628	Q07864	DPOE1_HUMAN	A	1628;1639;1601	ENSP00000322570:G1628A;ENSP00000406383:G1639A;ENSP00000445753:G1601A	ENSP00000322570:G1628A	G	-	2	0	POLE	131729234	0.998000	0.40836	0.297000	0.24988	0.883000	0.51084	3.773000	0.55333	1.301000	0.44836	0.655000	0.94253	GGA		0.582	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2		NM_006231		69	86	0	0	0	0.01441	0	69	86		
FLT1	2321	broad.mit.edu	37	13	29008208	29008208	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:29008208G>C	ENST00000282397.4	-	5	914	c.663C>G	c.(661-663)ctC>ctG	p.L221L	FLT1_ENST00000539099.1_Silent_p.L221L|FLT1_ENST00000541932.1_Silent_p.L221L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	221					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|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)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCGATGTGTGAGATAGTTTG	0.353																																						uc001usb.3		NaN																	0				lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(661-663)CTC>CTG		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						142.0	122.0	129.0					13																	29008208		2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29008208G>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.663C>G	13.37:g.29008208G>C						FLT1_uc010aar.1_Silent_p.L221L|FLT1_uc001usc.3_Silent_p.L221L|FLT1_uc010tdp.1_Silent_p.L221L	p.L221L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	5	948	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	221			Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.663C>G	CCDS9330.1																																																																																				0.353	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1				18	66	0	0	0	0.006122	0	18	66		
FREM2	341640	broad.mit.edu	37	13	39425843	39425843	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:39425843G>A	ENST00000280481.7	+	11	6979	c.6763G>A	c.(6763-6765)Gaa>Aaa	p.E2255K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2255	Calx-beta 5.				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)	p.E2255*(1)		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)		TAAATTTGGAGAAACCAAATT	0.368																																						uc001uwv.2		NaN																	1	Substitution - Nonsense(1)		breast(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(6763-6765)GAA>AAA		FRAS1-related extracellular matrix protein 2							45.0	46.0	45.0					13																	39425843		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39425843G>A	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.6763G>A	13.37:g.39425843G>A	ENSP00000280481:p.Glu2255Lys					FREM2_uc001uww.2_Missense_Mutation_p.E341K	p.E2255K	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)	11	7072	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2255			Extracellular (Potential).|Calx-beta 5.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.6763G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257633	0.80246	.	.	ENSG00000150893	ENST00000280481	T	0.31247	1.5	5.62	5.62	0.85841	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.42245	0.1194	L	0.41906	1.305	0.80722	D	1	P;B	0.52061	0.95;0.034	P;B	0.55577	0.779;0.057	T	0.03060	-1.1077	10	0.25751	T	0.34	.	19.655	0.95832	0.0:0.0:1.0:0.0	.	2255;2255	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	K	2255	ENSP00000280481:E2255K	ENSP00000280481:E2255K	E	+	1	0	FREM2	38323843	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.803000	0.99136	2.650000	0.89964	0.650000	0.86243	GAA		0.368	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361		30	31	0	0	0	0.007291	0	30	31		
FREM2	341640	broad.mit.edu	37	13	39425946	39425946	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:39425946G>C	ENST00000280481.7	+	11	7082	c.6866G>C	c.(6865-6867)aGa>aCa	p.R2289T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2289	Calx-beta 5.				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)		TCCATTGTGAGAGTCCACACC	0.512																																						uc001uwv.2		NaN																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(6865-6867)AGA>ACA		FRAS1-related extracellular matrix protein 2							71.0	71.0	71.0					13																	39425946		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39425946G>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.6866G>C	13.37:g.39425946G>C	ENSP00000280481:p.Arg2289Thr					FREM2_uc001uww.2_Missense_Mutation_p.R375T	p.R2289T	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)	11	7175	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2289			Extracellular (Potential).|Calx-beta 5.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.6866G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139837	0.94560	.	.	ENSG00000150893	ENST00000280481	T	0.29142	1.58	5.63	5.63	0.86233	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.982	T	0.68938	-0.5277	10	0.38643	T	0.18	.	19.6746	0.95926	0.0:0.0:1.0:0.0	.	2289;2289	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	T	2289	ENSP00000280481:R2289T	ENSP00000280481:R2289T	R	+	2	0	FREM2	38323946	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.803000	0.99136	2.654000	0.90174	0.655000	0.94253	AGA		0.512	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361		36	39	0	0	0	0.005524	0	36	39		
MTRF1	9617	broad.mit.edu	37	13	41791298	41791298	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:41791298C>G	ENST00000379480.4	-	10	1391	c.1291G>C	c.(1291-1293)Gaa>Caa	p.E431Q	MTRF1_ENST00000379477.1_Missense_Mutation_p.E431Q|MTRF1_ENST00000430347.2_3'UTR	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	431					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		GCAATGGCTTCTTCATCTGCT	0.338																																						uc001uxx.2		NaN																	0					0						c.(1291-1293)GAA>CAA		mitochondrial translational release factor 1							73.0	79.0	77.0					13																	41791298		2203	4299	6502	SO:0001583	missense	9617				regulation of translational termination	mitochondrion	translation release factor activity, codon specific	g.chr13:41791298C>G	AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.1291G>C	13.37:g.41791298C>G	ENSP00000368793:p.Glu431Gln					MTRF1_uc001uxy.2_Missense_Mutation_p.E431Q|MTRF1_uc001uxz.2_Missense_Mutation_p.E267Q|MTRF1_uc010tff.1_3'UTR|uc001uxv.1_Intron|uc001uya.1_5'Flank|uc001uyb.2_5'Flank	p.E431Q	NM_004294	NP_004285	O75570	RF1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)	12	1761	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)	431					B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	ENST00000379480.4	37	c.1291G>C	CCDS9378.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054207	0.75960	.	.	ENSG00000120662	ENST00000379480;ENST00000379477	T;T	0.11169	2.8;2.8	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.29355	0.0731	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.00649	-1.1627	10	0.66056	D	0.02	.	16.3748	0.83382	0.0:1.0:0.0:0.0	.	431	O75570	RF1M_HUMAN	Q	431	ENSP00000368793:E431Q;ENSP00000368790:E431Q	ENSP00000368790:E431Q	E	-	1	0	MTRF1	40689298	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.053000	0.57427	2.472000	0.83506	0.650000	0.86243	GAA		0.338	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3		NM_004294		26	71	0	0	0	0.015359	0	26	71		
OLFM4	10562	broad.mit.edu	37	13	53624505	53624505	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:53624505G>A	ENST00000219022.2	+	5	1210	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	378	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATATGCTAATGTTGCTTGGCA	0.418																																						uc001vhl.2		NaN																	0				skin(1)	1						c.(1132-1134)GTT>ATT		olfactomedin 4 precursor							223.0	220.0	221.0					13																	53624505		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53624505G>A	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1132G>A	13.37:g.53624505G>A	ENSP00000219022:p.Val378Ile					OLFM4_uc001vhk.1_3'UTR	p.V378I	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1132	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	378			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.1132G>A	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019075	0.54576	.	.	ENSG00000102837	ENST00000219022	D	0.88896	-2.44	5.92	3.27	0.37495	Olfactomedin-like (3);	0.386049	0.29113	N	0.013112	D	0.87775	0.6262	M	0.74258	2.255	0.26814	N	0.968936	P	0.36733	0.567	B	0.41764	0.366	T	0.80930	-0.1162	10	0.49607	T	0.09	.	5.7728	0.18263	0.2088:0.0:0.6547:0.1365	.	378	Q6UX06	OLFM4_HUMAN	I	378	ENSP00000219022:V378I	ENSP00000219022:V378I	V	+	1	0	OLFM4	52522506	0.960000	0.32886	0.904000	0.35570	0.984000	0.73092	1.374000	0.34283	0.853000	0.35312	0.650000	0.86243	GTT		0.418	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2		NM_006418		48	170	0	0	0	0.01441	0	48	170		
IRS2	8660	broad.mit.edu	37	13	110435067	110435067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:110435067C>A	ENST00000375856.3	-	1	3848	c.3334G>T	c.(3334-3336)Gag>Tag	p.E1112*		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1112					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GACACCTGCTCCATGAGGCTC	0.751																																					Melanoma(100;613 2409 40847)	uc001vqv.2		NaN																	0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8						c.(3334-3336)GAG>TAG		insulin receptor substrate 2							5.0	6.0	6.0					13																	110435067		2019	4065	6084	SO:0001587	stop_gained	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110435067C>A	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3334G>T	13.37:g.110435067C>A	ENSP00000365016:p.Glu1112*						p.E1112*	NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	3848	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1112					Q96RR2|Q9BZG0|Q9Y6I5	Nonsense_Mutation	SNP	ENST00000375856.3	37	c.3334G>T	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	44	10.697446	0.99452	.	.	ENSG00000185950	ENST00000375856	.	.	.	3.92	3.92	0.45320	.	0.954897	0.08696	U	0.907190	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-7.4855	13.5507	0.61730	0.0:1.0:0.0:0.0	.	.	.	.	X	1112	.	ENSP00000365016:E1112X	E	-	1	0	IRS2	109233068	1.000000	0.71417	0.996000	0.52242	0.025000	0.11179	1.936000	0.40183	2.039000	0.60335	0.644000	0.83932	GAG		0.751	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1		NM_003749		5	26	1	0	0.00198382	0.001984	0.00200141	5	26		
LRFN5	145581	broad.mit.edu	37	14	42368155	42368155	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:42368155G>A	ENST00000298119.4	+	5	3323	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	LRFN5_ENST00000554171.1_3'UTR|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	712						integral component of membrane (GO:0016021)		p.E712*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GATTGTCCAGGAAACACAGGT	0.279										HNSCC(30;0.082)																												uc001wvm.2		NaN																	1	Substitution - Nonsense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(2134-2136)GAA>AAA		leucine rich repeat and fibronectin type III							107.0	111.0	109.0					14																	42368155		2202	4293	6495	SO:0001583	missense	145581					integral to membrane		g.chr14:42368155G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.2134G>A	14.37:g.42368155G>A	ENSP00000298119:p.Glu712Lys	HNSCC(30;0.082)				LRFN5_uc010ana.2_3'UTR	p.E712K	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	3332	+			712			Cytoplasmic (Potential).		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.2134G>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876718	0.51801	.	.	ENSG00000165379	ENST00000298119	T	0.46063	0.88	5.12	4.21	0.49690	.	0.562347	0.14413	U	0.321163	T	0.22859	0.0552	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.06552	-1.0820	10	0.33141	T	0.24	.	10.0761	0.42362	0.0982:0.0:0.9018:0.0	.	712	Q96NI6	LRFN5_HUMAN	K	712	ENSP00000298119:E712K	ENSP00000298119:E712K	E	+	1	0	LRFN5	41437905	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.587000	0.46128	2.556000	0.86216	0.591000	0.81541	GAA		0.279	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1		NM_152447		46	36	0	0	0	0.01441	0	46	36		
PTGDR	5729	broad.mit.edu	37	14	52735275	52735275	+	Missense_Mutation	SNP	C	C	T	rs200415919		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:52735275C>T	ENST00000306051.2	+	1	845	c.743C>T	c.(742-744)gCg>gTg	p.A248V	PTGDR_ENST00000553372.1_Missense_Mutation_p.A248V	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	248					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GAGCCGCGCGCGGACGGGAGG	0.677																																						uc001wzq.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(742-744)GCG>GTG		prostaglandin D2 receptor	Nedocromil(DB00716)						49.0	51.0	50.0					14																	52735275		2199	4295	6494	SO:0001583	missense	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52735275C>T	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.743C>T	14.37:g.52735275C>T	ENSP00000303424:p.Ala248Val						p.A248V	NM_000953	NP_000944	Q13258	PD2R_HUMAN			1	845	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		248			Cytoplasmic (Potential).		G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	c.743C>T	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159048	0.38119	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.15952	2.38;2.67	3.83	-1.89	0.07689	GPCR, rhodopsin-like superfamily (1);	0.772092	0.11069	N	0.603189	T	0.05914	0.0154	N	0.02539	-0.55	0.09310	N	1	P	0.47106	0.89	B	0.43445	0.42	T	0.23726	-1.0180	10	0.33940	T	0.23	-3.1698	3.8812	0.09079	0.1573:0.2825:0.4607:0.0995	.	248	Q13258	PD2R_HUMAN	V	248	ENSP00000303424:A248V;ENSP00000452408:A248V	ENSP00000303424:A248V	A	+	2	0	PTGDR	51805025	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	1.262000	0.32992	-0.372000	0.07992	-0.253000	0.11424	GCG		0.677	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1		NM_000953		75	180	0	0	0	0.01441	0	75	180		
FERMT2	10979	broad.mit.edu	37	14	53342019	53342019	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:53342019G>C	ENST00000395631.2	-	8	1236	c.1020C>G	c.(1018-1020)gaC>gaG	p.D340E	FERMT2_ENST00000553373.1_Missense_Mutation_p.D340E|FERMT2_ENST00000343279.4_Missense_Mutation_p.D340E|FERMT2_ENST00000399304.3_Missense_Mutation_p.D340E|FERMT2_ENST00000341590.3_Missense_Mutation_p.D340E			Q96AC1	FERM2_HUMAN	fermitin family member 2	340	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CAACTTCTTTGTCACTGTTGT	0.333																																						uc001xad.2		NaN																	0					0						c.(1018-1020)GAC>GAG		fermitin family homolog 2 isoform 1							140.0	127.0	131.0					14																	53342019		2203	4300	6503	SO:0001583	missense	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53342019G>C	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1020C>G	14.37:g.53342019G>C	ENSP00000378993:p.Asp340Glu					FERMT2_uc001xac.2_Missense_Mutation_p.D340E|FERMT2_uc001xae.2_Missense_Mutation_p.D340E|FERMT2_uc001xaf.2_Missense_Mutation_p.D340E	p.D340E	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN			8	1075	-	Breast(41;0.0342)		340			FERM.		B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	37	c.1020C>G	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266376	0.23136	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304	T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.52	3.59	0.41128	Band 4.1 domain (1);FERM central domain (2);	0.092296	0.85682	D	0.000000	T	0.47414	0.1444	N	0.01297	-0.9	0.46131	D	0.998884	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.005;0.006;0.006	T	0.42616	-0.9441	10	0.12103	T	0.63	.	11.3275	0.49456	0.0682:0.0:0.8057:0.1261	.	340;340;340	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	E	340;340;293;340;340;340	ENSP00000378993:D340E;ENSP00000340391:D340E;ENSP00000450741:D293E;ENSP00000342858:D340E;ENSP00000451084:D340E;ENSP00000382243:D340E	ENSP00000340391:D340E	D	-	3	2	FERMT2	52411769	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.218000	0.58554	1.471000	0.48121	0.655000	0.94253	GAC		0.333	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2		NM_006832		50	57	0	0	0	0.01441	0	50	57		
FERMT2	10979	broad.mit.edu	37	14	53342072	53342072	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:53342072G>C	ENST00000395631.2	-	8	1183	c.967C>G	c.(967-969)Cat>Gat	p.H323D	FERMT2_ENST00000553373.1_Missense_Mutation_p.H323D|FERMT2_ENST00000343279.4_Missense_Mutation_p.H323D|FERMT2_ENST00000399304.3_Missense_Mutation_p.H323D|FERMT2_ENST00000341590.3_Missense_Mutation_p.H323D			Q96AC1	FERM2_HUMAN	fermitin family member 2	323	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TTATTGATATGATACTGAAAC	0.308																																						uc001xad.2		NaN																	0					0						c.(967-969)CAT>GAT		fermitin family homolog 2 isoform 1							93.0	86.0	89.0					14																	53342072		2203	4300	6503	SO:0001583	missense	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53342072G>C	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.967C>G	14.37:g.53342072G>C	ENSP00000378993:p.His323Asp					FERMT2_uc001xac.2_Missense_Mutation_p.H323D|FERMT2_uc001xae.2_Missense_Mutation_p.H323D|FERMT2_uc001xaf.2_Missense_Mutation_p.H323D	p.H323D	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN			8	1022	-	Breast(41;0.0342)		323			FERM.		B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	37	c.967C>G	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712850	0.89112	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.52	5.52	0.82312	Band 4.1 domain (1);FERM central domain (2);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.093198	0.85682	D	0.000000	D	0.89368	0.6695	M	0.83603	2.65	0.80722	D	1	P;D;D	0.67145	0.862;0.993;0.996	P;D;D	0.72625	0.826;0.967;0.978	D	0.90175	0.4238	10	0.87932	D	0	.	19.8034	0.96518	0.0:0.0:1.0:0.0	.	323;323;323	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	D	323;323;276;323;323;323	ENSP00000378993:H323D;ENSP00000340391:H323D;ENSP00000450741:H276D;ENSP00000342858:H323D;ENSP00000451084:H323D;ENSP00000382243:H323D	ENSP00000340391:H323D	H	-	1	0	FERMT2	52411822	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.760000	0.94817	0.655000	0.94253	CAT		0.308	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2		NM_006832		32	52	0	0	0	0.009535	0	32	52		
WDHD1	11169	broad.mit.edu	37	14	55457948	55457948	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:55457948G>C	ENST00000360586.3	-	12	1389	c.1324C>G	c.(1324-1326)Ctc>Gtc	p.L442V	WDHD1_ENST00000359167.4_Missense_Mutation_p.I21M|WDHD1_ENST00000420358.2_Missense_Mutation_p.L319V|WDHD1_ENST00000421192.1_Missense_Mutation_p.L319V	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	442					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTGTGAGTGAGATGCAACGGT	0.388																																						uc001xbm.1		NaN																	0				skin(1)	1						c.(1324-1326)CTC>GTC		WD repeat and HMG-box DNA binding protein 1							148.0	138.0	142.0					14																	55457948		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55457948G>C	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1324C>G	14.37:g.55457948G>C	ENSP00000353793:p.Leu442Val					WDHD1_uc010aom.1_Missense_Mutation_p.I20M|WDHD1_uc001xbn.1_Missense_Mutation_p.L319V	p.L442V	NM_007086	NP_009017	O75717	WDHD1_HUMAN			12	1402	-			442					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.1324C>G	CCDS9721.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.435919|4.435919	0.83885|0.83885	.|.	.|.	ENSG00000198554|ENSG00000198554	ENST00000359167|ENST00000360586;ENST00000421192	T|T;T	0.42900|0.63417	0.96|0.34;-0.04	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79736|0.79736	0.4497|0.4497	M|M	0.82823|0.82823	2.61|2.61	0.26737|0.26737	N|N	0.970477|0.970477	P|D	0.46220|0.89917	0.874|1.0	P|D	0.47528|0.76071	0.549|0.987	T|T	0.73177|0.73177	-0.4065|-0.4065	9|10	0.56958|0.17369	D|T	0.05|0.5	.|.	18.6184|18.6184	0.91312|0.91312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	21|442	F8W7P7|O75717	.|WDHD1_HUMAN	M|V	21|442;319	ENSP00000352085:I21M|ENSP00000353793:L442V;ENSP00000391049:L319V	ENSP00000352085:I21M|ENSP00000353793:L442V	I|L	-|-	3|1	3|0	WDHD1|WDHD1	54527698|54527698	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.470000|9.470000	0.97683|0.97683	2.393000|2.393000	0.81446|0.81446	0.650000|0.650000	0.86243|0.86243	ATC|CTC		0.388	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2		NM_007086		20	24	0	0	0	0.014323	0	20	24		
COQ6	51004	broad.mit.edu	37	14	74428598	74428598	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:74428598C>G	ENST00000334571.2	+	11	1409	c.1369C>G	c.(1369-1371)Cca>Gca	p.P457A	COQ6_ENST00000394026.4_Missense_Mutation_p.P432A|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Missense_Mutation_p.P382A|ENTPD5_ENST00000557325.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	457					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|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)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TGCAGTGTCTCCACTCAAAGT	0.463																																						uc001xph.2		NaN																	0					0						c.(1369-1371)CCA>GCA		coenzyme Q6 homolog isoform a							130.0	129.0	130.0					14																	74428598		2203	4300	6503	SO:0001583	missense	51004				ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide 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.chr14:74428598C>G	AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.1369C>G	14.37:g.74428598C>G	ENSP00000333946:p.Pro457Ala					ENTPD5_uc001xpi.2_Intron|COQ6_uc001xpe.2_Missense_Mutation_p.P382A|COQ6_uc001xpf.2_Missense_Mutation_p.P382A|COQ6_uc010tuk.1_Missense_Mutation_p.P432A|COQ6_uc001xpg.2_Intron	p.P457A	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00337)	11	1449	+			457					B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	ENST00000334571.2	37	c.1369C>G	CCDS9823.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451626	0.43531	.	.	ENSG00000119723	ENST00000394026;ENST00000555376;ENST00000238709;ENST00000334571;ENST00000556299	T;T;T	0.44083	0.93;0.93;0.93	5.55	5.55	0.83447	.	0.155802	0.64402	D	0.000015	T	0.46386	0.1390	M	0.63169	1.94	0.80722	D	1	P;B;P;B	0.36412	0.552;0.112;0.481;0.112	B;B;B;B	0.38985	0.149;0.077;0.287;0.056	T	0.27054	-1.0085	10	0.21540	T	0.41	-0.9387	19.6941	0.96016	0.0:1.0:0.0:0.0	.	432;457;382;382	B7Z3K8;Q9Y2Z9;G3XA86;Q86U30	.;COQ6_HUMAN;.;.	A	432;382;382;457;145	ENSP00000377594:P432A;ENSP00000238709:P382A;ENSP00000333946:P457A	ENSP00000238709:P382A	P	+	1	0	COQ6	73498351	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.484000	0.45242	2.885000	0.99019	0.655000	0.94253	CCA		0.463	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1				108	107	0	0	0	0.01441	0	108	107		
LTBP2	4053	broad.mit.edu	37	14	75017934	75017934	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:75017934C>T	ENST00000261978.4	-	7	1905	c.1519G>A	c.(1519-1521)Gtg>Atg	p.V507M	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.V507M|LTBP2_ENST00000557425.1_5'UTR	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	507					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTGGTCTCCACGCTGTTCTCC	0.682																																						uc001xqa.2		NaN																	0				liver(1)|skin(1)	2						c.(1519-1521)GTG>ATG		latent transforming growth factor beta binding							23.0	25.0	24.0					14																	75017934		2202	4299	6501	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75017934C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1519G>A	14.37:g.75017934C>T	ENSP00000261978:p.Val507Met						p.V507M	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	7	1906	-			507					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.1519G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836893	0.71373	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.27720	1.65;1.65	4.61	3.71	0.42584	.	0.000000	0.37955	N	0.001871	T	0.49541	0.1563	L	0.60455	1.87	0.32027	N	0.600014	D	0.89917	1.0	D	0.85130	0.997	T	0.59198	-0.7499	10	0.46703	T	0.11	.	13.0149	0.58751	0.0:0.838:0.162:0.0	.	507	Q14767	LTBP2_HUMAN	M	507	ENSP00000261978:V507M;ENSP00000451477:V507M	ENSP00000261978:V507M	V	-	1	0	LTBP2	74087687	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.219000	0.51200	1.119000	0.41883	0.455000	0.32223	GTG		0.682	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1		NM_000428		13	16	0	0	0	0.013537	0	13	16		
IRF2BPL	64207	broad.mit.edu	37	14	77492772	77492772	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:77492772G>A	ENST00000238647.3	-	1	2262	c.1364C>T	c.(1363-1365)tCg>tTg	p.S455L		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	455					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CTTGAAACCCGAGGATAGGCC	0.612																																						uc001xsy.2		NaN																	0					0						c.(1363-1365)TCG>TTG		chromosome 14 open reading frame 4							29.0	28.0	28.0					14																	77492772		2203	4300	6503	SO:0001583	missense	64207					nucleus		g.chr14:77492772G>A	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1364C>T	14.37:g.77492772G>A	ENSP00000238647:p.Ser455Leu						p.S455L	NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)	1	2263	-			455					Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	ENST00000238647.3	37	c.1364C>T	CCDS9854.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362508	0.61403	.	.	ENSG00000119669	ENST00000238647	T	0.24538	1.85	3.92	3.92	0.45320	.	0.000000	0.64402	U	0.000004	T	0.39091	0.1065	L	0.48642	1.525	0.46298	D	0.998971	D	0.76494	0.999	P	0.58820	0.846	T	0.34800	-0.9814	10	0.87932	D	0	3.0842	14.6747	0.68969	0.0:0.0:1.0:0.0	.	455	Q9H1B7	I2BPL_HUMAN	L	455	ENSP00000238647:S455L	ENSP00000238647:S455L	S	-	2	0	IRF2BPL	76562525	1.000000	0.71417	0.997000	0.53966	0.849000	0.48306	5.758000	0.68776	2.013000	0.59113	0.462000	0.41574	TCG		0.612	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1		NM_024496		57	61	0	0	0	0.01441	0	57	61		
PTPN21	11099	broad.mit.edu	37	14	88938710	88938710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:88938710G>A	ENST00000556564.1	-	15	3033	c.2749C>T	c.(2749-2751)Cga>Tga	p.R917*	PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R917*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	917	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCAGGGAGTCGTGCTGTTGAG	0.393																																						uc001xwv.3		NaN																	0				ovary(3)|skin(1)	4						c.(2749-2751)CGA>TGA		protein tyrosine phosphatase, non-receptor type							162.0	143.0	149.0					14																	88938710		2203	4300	6503	SO:0001587	stop_gained	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88938710G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2749C>T	14.37:g.88938710G>A	ENSP00000452414:p.Arg917*					PTPN21_uc010twc.1_Nonsense_Mutation_p.R713*	p.R917*	NM_007039	NP_008970	Q16825	PTN21_HUMAN			15	3080	-			917			Tyrosine-protein phosphatase.			Nonsense_Mutation	SNP	ENST00000556564.1	37	c.2749C>T	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	43	10.291267	0.99377	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	.	.	.	5.86	3.94	0.45596	.	0.134471	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	15.1339	0.72549	0.0:0.0:0.7427:0.2573	.	.	.	.	X	917	.	ENSP00000330276:R917X	R	-	1	2	PTPN21	88008463	1.000000	0.71417	0.982000	0.44146	0.982000	0.71751	4.029000	0.57253	1.440000	0.47531	0.655000	0.94253	CGA		0.393	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1				12	39	0	0	0	0.001855	0	12	39		
BTBD7	55727	broad.mit.edu	37	14	93760396	93760396	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:93760396A>G	ENST00000334746.5	-	3	1277	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	BTBD7_ENST00000298896.3_Missense_Mutation_p.Y324H|BTBD7_ENST00000555525.1_Missense_Mutation_p.Y324H|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000393170.2_5'UTR	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	324	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTGTTGCATATTTTTTTGGT	0.418																																						uc001ybo.2		NaN																	0				pancreas(1)	1						c.(970-972)TAT>CAT		BTB (POZ) domain containing 7 isoform 1							82.0	72.0	76.0					14																	93760396		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93760396A>G	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.970T>C	14.37:g.93760396A>G	ENSP00000335615:p.Tyr324His					BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.Y239H|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.Y239H|BTBD7_uc001ybr.2_Missense_Mutation_p.Y324H	p.Y324H	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	1296	-		all_cancers(154;0.08)	324			BTB 2.		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.970T>C	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.782971	0.31593	.	.	ENSG00000011114	ENST00000334746;ENST00000553975;ENST00000298896;ENST00000555525	T;T;T	0.67171	-0.25;-0.25;-0.25	5.49	4.34	0.51931	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.76688	0.4022	L	0.54323	1.7	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.87578	0.991;0.994;0.998	T	0.76727	-0.2853	10	0.56958	D	0.05	.	11.9882	0.53159	0.8701:0.0:0.0:0.1299	.	324;324;324	Q9P203-3;G3V3T2;Q9P203	.;.;BTBD7_HUMAN	H	324;34;324;324	ENSP00000335615:Y324H;ENSP00000298896:Y324H;ENSP00000451408:Y324H	ENSP00000298896:Y324H	Y	-	1	0	BTBD7	92830149	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.309000	0.78937	0.919000	0.36945	-0.259000	0.10710	TAT		0.418	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1		NM_001002860		17	44	0	0	0	0.004007	0	17	44		
OR4N4	283694	broad.mit.edu	37	15	22383192	22383192	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:22383192C>T	ENST00000328795.4	+	1	811	c.720C>T	c.(718-720)tgC>tgT	p.C240C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	240						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(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTCCACGTGCACCACTCGTG	0.493																																						uc001yuc.1		NaN																	0				ovary(4)|skin(1)	5						c.(718-720)TGC>TGT		olfactory receptor, family 4, subfamily N,							228.0	193.0	205.0					15																	22383192		2192	4263	6455	SO:0001819	synonymous_variant	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383192C>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.720C>T	15.37:g.22383192C>T						LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Silent_p.C240C	p.C240C	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1701	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	240			Helical; Name=6; (Potential).		Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	c.720C>T	CCDS32173.1																																																																																				0.493	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1				26	189	0	0	0	0.00632	0	26	189		
IVD	3712	broad.mit.edu	37	15	40703469	40703469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:40703469G>A	ENST00000249760.2	+	5	810	c.467G>A	c.(466-468)gGt>gAt	p.G156D	IVD_ENST00000490194.1_3'UTR|IVD_ENST00000479013.2_Missense_Mutation_p.G129D|IVD_ENST00000487418.2_Missense_Mutation_p.G159D	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	156					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	CTGATCAGTGGTGAGTACATC	0.517																																					GBM(31;293 617 7486 32527 34655)	uc001zls.3		NaN																	0				ovary(1)	1						c.(475-477)GGT>GAT		isovaleryl Coenzyme A dehydrogenase isoform 1							240.0	252.0	248.0					15																	40703469		2203	4300	6503	SO:0001583	missense	3712				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	g.chr15:40703469G>A	AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.467G>A	15.37:g.40703469G>A	ENSP00000249760:p.Gly156Asp					IVD_uc001zlq.2_Missense_Mutation_p.G129D	p.G159D	NM_002225	NP_002216	P26440	IVD_HUMAN		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	5	810	+		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	156					B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	ENST00000249760.2	37	c.476G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.179958|5.179958	0.94846|0.94846	.|.	.|.	ENSG00000128928|ENSG00000128928	ENST00000249760;ENST00000479013;ENST00000487418|ENST00000473112	D;D;D|.	0.99871|.	-7.35;-7.35;-7.35|.	5.71|5.71	5.71|5.71	0.89125|0.89125	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88489|0.88489	0.6450|0.6450	H|H	0.96208|0.96208	3.785|3.785	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.97110|.	0.996;1.0|.	D|D	0.91502|0.91502	0.5220|0.5220	10|5	0.87932|.	D|.	0|.	.|.	19.8575|19.8575	0.96767|0.96767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	156;129|.	P26440;B3KVI7|.	IVD_HUMAN;.|.	D|M	156;129;159|76	ENSP00000249760:G156D;ENSP00000417990:G129D;ENSP00000418397:G159D|.	ENSP00000249760:G156D|.	G|V	+|+	2|1	0|0	IVD|IVD	38490761|38490761	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.902000|0.902000	0.53008|0.53008	9.375000|9.375000	0.97178|0.97178	2.698000|2.698000	0.92095|0.92095	0.561000|0.561000	0.74099|0.74099	GGT|GTG		0.517	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding					278	328	0	0	0	0.01441	0	278	328		
TTBK2	146057	broad.mit.edu	37	15	43044889	43044889	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:43044889G>A	ENST00000267890.6	-	14	2663	c.2555C>T	c.(2554-2556)tCa>tTa	p.S852L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	852					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGAAATTTCTGAAGTTCCAAC	0.373																																						uc001zqo.2		NaN																	0				ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7						c.(2554-2556)TCA>TTA		tau tubulin kinase 2							78.0	73.0	74.0					15																	43044889		1829	4101	5930	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43044889G>A	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2555C>T	15.37:g.43044889G>A	ENSP00000267890:p.Ser852Leu					TTBK2_uc010bcy.2_Missense_Mutation_p.S783L	p.S852L	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	2994	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	852					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.2555C>T	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530271	0.45073	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.41065	1.01	5.87	5.87	0.94306	.	0.403835	0.24165	N	0.040948	T	0.41213	0.1149	L	0.54323	1.7	0.80722	D	1	P;P	0.42296	0.775;0.483	B;B	0.39660	0.306;0.084	T	0.39099	-0.9630	10	0.66056	D	0.02	.	13.4186	0.60982	0.0714:0.0:0.9286:0.0	.	783;852	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	L	852;782;1257	ENSP00000267890:S852L	ENSP00000263802:S1257L	S	-	2	0	TTBK2	40832181	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	4.074000	0.57577	2.785000	0.95823	0.655000	0.94253	TCA		0.373	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2		NM_173500		56	64	0	0	0	0.01441	0	56	64		
MYO5A	4644	broad.mit.edu	37	15	52672022	52672022	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:52672022G>C	ENST00000399231.3	-	17	2339	c.2096C>G	c.(2095-2097)tCa>tGa	p.S699*	MYO5A_ENST00000358212.6_Nonsense_Mutation_p.S699*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.S699*|MYO5A_ENST00000553916.1_Nonsense_Mutation_p.S699*|MYO5A_ENST00000356338.6_Nonsense_Mutation_p.S699*	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	699	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GGCTCACCGTGAGGGGAAACC	0.448																																						uc002aby.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(2095-2097)TCA>TGA		myosin VA isoform 1							104.0	108.0	106.0					15																	52672022		1926	4135	6061	SO:0001587	stop_gained	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52672022G>C		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2096C>G	15.37:g.52672022G>C	ENSP00000382177:p.Ser699*					MYO5A_uc002abx.3_Nonsense_Mutation_p.S699*|MYO5A_uc010uge.1_Nonsense_Mutation_p.S568*	p.S699*	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	17	2340	-			699			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Nonsense_Mutation	SNP	ENST00000399231.3	37	c.2096C>G	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	39	7.367973	0.98241	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6432	0.91402	0.0:0.0:1.0:0.0	.	.	.	.	X	699;233;699;699;699;329;699	.	ENSP00000348693:S699X	S	-	2	0	MYO5A	50459314	1.000000	0.71417	0.987000	0.45799	0.917000	0.54804	9.869000	0.99810	2.464000	0.83262	0.650000	0.86243	TCA		0.448	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1		NM_000259		25	122	0	0	0	0.005443	0	25	122		
LIPC	3990	broad.mit.edu	37	15	58834842	58834842	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:58834842G>A	ENST00000356113.6	+	6	1181	c.566G>A	c.(565-567)aGa>aAa	p.R189K	LIPC_ENST00000433326.2_Missense_Mutation_p.R128K|LIPC_ENST00000414170.3_Missense_Mutation_p.R189K|LIPC_ENST00000299022.5_Missense_Mutation_p.R189K			P11150	LIPC_HUMAN	lipase, hepatic	189	Heparin-binding. {ECO:0000255}.				cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AAGATTGGGAGAATCACAGGT	0.498																																						uc010bga.1		NaN																	0				ovary(1)	1						c.(565-567)AGA>AAA		lipase C precursor							175.0	148.0	157.0					15																	58834842		2192	4292	6484	SO:0001583	missense	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58834842G>A		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.566G>A	15.37:g.58834842G>A	ENSP00000348425:p.Arg189Lys					LIPC_uc010bfz.1_Missense_Mutation_p.R189K|LIPC_uc002afa.1_Missense_Mutation_p.R189K|LIPC_uc010bgb.1_Missense_Mutation_p.R87K|LIPC_uc010ugy.1_Missense_Mutation_p.R128K	p.R189K	NM_000236	NP_000227	P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	6	1174	+		Colorectal(260;0.215)	189			Heparin-binding (Potential).		A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	c.566G>A	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	G	35	5.500405	0.96355	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2	5.21	5.21	0.72293	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98425	0.9476	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.978;0.999	D	0.99548	1.0965	10	0.87932	D	0	.	18.7431	0.91782	0.0:0.0:1.0:0.0	.	128;189	E7EUK6;P11150	.;LIPC_HUMAN	K	189;189;189;128	ENSP00000348425:R189K;ENSP00000395569:R189K;ENSP00000299022:R189K;ENSP00000395002:R128K	ENSP00000299022:R189K	R	+	2	0	LIPC	56622134	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.777000	0.99008	2.442000	0.82660	0.655000	0.94253	AGA		0.498	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1				37	111	0	0	0	0.004289	0	37	111		
ADAMTSL3	57188	broad.mit.edu	37	15	84611709	84611709	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:84611709C>T	ENST00000286744.5	+	19	2589	c.2365C>T	c.(2365-2367)Ctg>Ttg	p.L789L	ADAMTSL3_ENST00000567476.1_Silent_p.L789L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	789	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					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)			CTGTCGGCAGCTGCTAACGGA	0.547																																						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.(2365-2367)CTG>TTG		ADAMTS-like 3 precursor							69.0	68.0	68.0					15																	84611709		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84611709C>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.2365C>T	15.37:g.84611709C>T						ADAMTSL3_uc010bmt.1_Silent_p.L789L|ADAMTSL3_uc010bmu.1_Silent_p.L789L	p.L789L	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		19	2589	+			789			TSP type-1 6.		A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.2365C>T	CCDS10326.1																																																																																				0.547	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2		NM_207517		9	43	0	0	0	0.004482	0	9	43		
AGBL1	123624	broad.mit.edu	37	15	86940646	86940646	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:86940646C>A	ENST00000441037.2	+	17	2381	c.2286C>A	c.(2284-2286)agC>agA	p.S762R	AGBL1_ENST00000421325.2_Missense_Mutation_p.S762R|AGBL1_ENST00000389298.3_Missense_Mutation_p.S493R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	762					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAGGAGAGAGCAATGCCAGTT	0.453																																						uc002blz.1		NaN																	0					0						c.(2284-2286)AGC>AGA		ATP/GTP binding protein-like 1							132.0	128.0	129.0					15																	86940646		1979	4156	6135	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86940646C>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2286C>A	15.37:g.86940646C>A	ENSP00000413001:p.Ser762Arg						p.S762R	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			17	2366	+			762					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.2286C>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705921	0.68615	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10668	2.85;2.85	5.49	4.58	0.56647	Peptidase M14, carboxypeptidase A (1);	0.133888	0.50627	D	0.000107	T	0.34948	0.0915	M	0.87547	2.89	0.32947	D	0.519173	D	0.89917	1.0	D	0.81914	0.995	T	0.55817	-0.8081	10	0.87932	D	0	-20.8066	9.741	0.40418	0.0:0.844:0.0:0.156	.	762	Q96MI9	CBPC4_HUMAN	R	791;762;493	ENSP00000397173:S762R;ENSP00000373949:S493R	ENSP00000373949:S493R	S	+	3	2	AGBL1	84741650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.278000	0.33179	1.453000	0.47775	0.655000	0.94253	AGC		0.453	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5		NM_152336		14	39	1	0	4.93089e-13	0.00245	5.18142e-13	14	39		
NTRK3	4916	broad.mit.edu	37	15	88678348	88678348	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:88678348G>A	ENST00000360948.2	-	9	1349	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	NTRK3_ENST00000540489.2_Silent_p.L396L|NTRK3_ENST00000357724.2_Silent_p.L396L|NTRK3_ENST00000542733.2_Silent_p.L298L|NTRK3_ENST00000355254.2_Silent_p.L396L|NTRK3_ENST00000317501.3_Silent_p.L396L|NTRK3_ENST00000558676.1_Silent_p.L396L|NTRK3_ENST00000394480.2_Silent_p.L396L|NTRK3_ENST00000557856.1_Silent_p.L396L	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	396					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGGGCTCCTTGAGGAAGTGGC	0.527			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1		NaN		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1186-1188)CTC>CTT		neurotrophic tyrosine kinase, receptor, type 3							203.0	185.0	191.0					15																	88678348		2201	4299	6500	SO:0001819	synonymous_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88678348G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1188C>T	15.37:g.88678348G>A		TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Silent_p.L396L|NTRK3_uc002bmf.1_Silent_p.L396L|NTRK3_uc010upl.1_Silent_p.L298L|NTRK3_uc010bnh.1_Silent_p.L396L|NTRK3_uc002bmg.2_Silent_p.L396L	p.L396L	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		9	1350	-			396			Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	c.1188C>T	CCDS32322.1																																																																																				0.527	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding					30	101	0	0	0	0.010818	0	30	101		
MEF2A	4205	broad.mit.edu	37	15	100230446	100230446	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:100230446G>A	ENST00000557785.1	+	8	1020	c.671G>A	c.(670-672)gGg>gAg	p.G224E	MEF2A_ENST00000557942.1_Splice_Site_p.G224E|MEF2A_ENST00000558812.1_Splice_Site_p.G156E|MEF2A_ENST00000354410.5_Splice_Site_p.G226E|MEF2A_ENST00000453228.2_Splice_Site_p.G224E|MEF2A_ENST00000338042.6_Splice_Site_p.G224E|MEF2A_ENST00000449277.2_Splice_Site_p.G156E	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	226					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TTCCCCCCAGGGAATGGATTT	0.383																																						uc010urw.1		NaN																	0				ovary(1)	1						c.(676-678)GGG>GAG		myocyte enhancer factor 2A isoform 1							29.0	27.0	27.0					15																	100230446		1794	4067	5861	SO:0001630	splice_region_variant	4205				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100230446G>A		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.671-1G>A	15.37:g.100230446G>A						MEF2A_uc010urv.1_Missense_Mutation_p.G156E|MEF2A_uc010bos.2_Missense_Mutation_p.G224E|MEF2A_uc002bvf.2_Missense_Mutation_p.G226E|MEF2A_uc002bve.2_Missense_Mutation_p.G224E|MEF2A_uc002bvg.2_Missense_Mutation_p.G224E|MEF2A_uc002bvi.2_Missense_Mutation_p.G224E|MEF2A_uc010bot.2_Missense_Mutation_p.G156E	p.G226E	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		7	1036	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		226					B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.677G>A	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995479	0.74703	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T;T	0.61392	0.13;0.13;0.11;1.06	5.55	5.55	0.83447	.	0.045937	0.85682	D	0.000000	T	0.77274	0.4106	M	0.75615	2.305	0.58432	D	0.999996	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;0.998;1.0;1.0;0.999	T	0.76141	-0.3068	9	.	.	.	.	19.8622	0.96787	0.0:0.0:1.0:0.0	.	226;156;145;224;226;224	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	E	224;226;224;156	ENSP00000404110:G224E;ENSP00000346389:G226E;ENSP00000337202:G224E;ENSP00000399460:G156E	.	G	+	2	0	MEF2A	98047969	1.000000	0.71417	0.985000	0.45067	0.428000	0.31595	9.420000	0.97426	2.769000	0.95229	0.650000	0.86243	GGG		0.383	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			Missense_Mutation	4	22	0	0	0	0.009096	0	4	22		
HCFC1R1	54985	broad.mit.edu	37	16	3073334	3073334	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:3073334C>G	ENST00000248089.3	-	3	485	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	HCFC1R1_ENST00000574151.1_Missense_Mutation_p.E42Q|THOC6_ENST00000326266.8_5'Flank|HCFC1R1_ENST00000396916.1_Missense_Mutation_p.E61Q|HCFC1R1_ENST00000572355.1_Missense_Mutation_p.E21Q|THOC6_ENST00000574549.1_5'Flank|HCFC1R1_ENST00000574980.1_Missense_Mutation_p.E61Q|HCFC1R1_ENST00000354679.3_Missense_Mutation_p.E59Q|THOC6_ENST00000575576.1_5'Flank|THOC6_ENST00000253952.9_5'Flank	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	61						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						ATGTTCTCCTCAGACAGAAAC	0.617																																						uc002csx.1		NaN																	0					0						c.(181-183)GAG>CAG		host cell factor C1 regulator 1 (XPO1 dependant)							104.0	109.0	107.0					16																	3073334		2198	4300	6498	SO:0001583	missense	54985					cytoplasm|nucleus		g.chr16:3073334C>G	AK000575	CCDS10490.1, CCDS32375.1, CCDS73815.1	16p13.3	2008-02-05	2005-12-01			ENSG00000103145			21198	protein-coding gene	gene with protein product			"""host cell factor C1 regulator 1 (XPO1 dependant)"""			12235138	Standard	NM_001002018		Approved	HPIP, FLJ20568	uc002csy.1	Q9NWW0		ENST00000248089.3:c.181G>C	16.37:g.3073334C>G	ENSP00000248089:p.Glu61Gln					HCFC1R1_uc002csy.1_Missense_Mutation_p.E61Q|HCFC1R1_uc002csz.1_Missense_Mutation_p.E42Q|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002ctc.2_5'Flank|THOC6_uc002cta.2_5'Flank	p.E61Q	NM_001002018	NP_001002018	Q9NWW0	HPIP_HUMAN			4	314	-			61					D3DUA7|Q68EN7	Missense_Mutation	SNP	ENST00000248089.3	37	c.181G>C	CCDS10490.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077622	0.76528	.	.	ENSG00000103145	ENST00000248089;ENST00000354679;ENST00000396916	T;T	0.56941	0.43;0.43	5.3	5.3	0.74995	.	0.000000	0.49916	D	0.000134	T	0.60663	0.2286	L	0.27053	0.805	0.37922	D	0.931722	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.67589	-0.5632	10	0.87932	D	0	-17.9545	14.4423	0.67325	0.0:1.0:0.0:0.0	.	42;61	Q9NWW0-2;Q9NWW0	.;HPIP_HUMAN	Q	61;42;61	ENSP00000248089:E61Q;ENSP00000380123:E61Q	ENSP00000248089:E61Q	E	-	1	0	HCFC1R1	3013335	0.993000	0.37304	0.997000	0.53966	0.993000	0.82548	4.016000	0.57159	2.502000	0.84385	0.655000	0.94253	GAG		0.617	HCFC1R1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436969.1		NM_017885		94	267	0	0	0	0.01441	0	94	267		
ZNF75A	7627	broad.mit.edu	37	16	3367835	3367835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:3367835C>T	ENST00000574298.1	+	6	1330	c.857C>T	c.(856-858)tCa>tTa	p.S286L	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	286					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)|large_intestine(3)|lung(7)|prostate(1)	12						AGCAGGCGGTCAAGCCTTCTT	0.453																																						uc002cut.3		NaN																	0				breast(1)	1						c.(856-858)TCA>TTA		zinc finger protein 75a							53.0	56.0	55.0					16																	3367835		2197	4300	6497	SO:0001583	missense	7627				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3367835C>T	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.857C>T	16.37:g.3367835C>T	ENSP00000459566:p.Ser286Leu					ZNF75A_uc002cuv.3_RNA	p.S286L	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN			6	1383	+			286			C2H2-type 5.		Q0VDI8|Q92669	Missense_Mutation	SNP	ENST00000574298.1	37	c.857C>T	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225695	0.39300	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.46	4.46	0.54185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36778	N	0.002413	T	0.68997	0.3062	M	0.83692	2.655	0.09310	N	1	D	0.76494	0.999	D	0.66716	0.946	T	0.63668	-0.6585	9	0.62326	D	0.03	.	14.9674	0.71204	0.0:1.0:0.0:0.0	.	286	Q96N20	ZN75A_HUMAN	L	286	.	ENSP00000293995:S286L	S	+	2	0	ZNF75A	3307836	0.148000	0.22702	1.000000	0.80357	0.943000	0.58893	1.336000	0.33850	2.459000	0.83118	0.557000	0.71058	TCA		0.453	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2		NM_153028		59	42	0	0	0	0.01441	0	59	42		
ZNF500	26048	broad.mit.edu	37	16	4802759	4802759	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:4802759T>C	ENST00000219478.6	-	6	1360	c.1061A>G	c.(1060-1062)aAg>aGg	p.K354R	RP11-127I20.7_ENST00000588099.1_RNA|ZNF500_ENST00000591026.1_5'UTR|ZNF500_ENST00000545009.1_Missense_Mutation_p.K354R			O60304	ZN500_HUMAN	zinc finger protein 500	354					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(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GACTAGGCACTTGTAAGGCCG	0.622																																						uc002cxp.1		NaN																	0				ovary(2)|skin(1)	3						c.(1060-1062)AAG>AGG		zinc finger protein 500							99.0	84.0	89.0					16																	4802759		2197	4300	6497	SO:0001583	missense	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4802759T>C	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.1061A>G	16.37:g.4802759T>C	ENSP00000219478:p.Lys354Arg					ZNF500_uc002cxo.1_Missense_Mutation_p.K146R|ZNF500_uc010uxt.1_Missense_Mutation_p.K354R	p.K354R	NM_021646	NP_067678	O60304	ZN500_HUMAN			6	1308	-			354			C2H2-type 2.		A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	c.1061A>G	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	T	9.770	1.172493	0.21704	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.19938	2.11;2.11	3.92	1.56	0.23342	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13200	0.0320	L	0.33624	1.015	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.12156	0.007;0.007	T	0.31530	-0.9940	9	0.36615	T	0.2	.	2.5645	0.04779	0.2006:0.2285:0.0:0.571	.	354;354	B4DNN9;O60304	.;ZN500_HUMAN	R	354	ENSP00000445714:K354R;ENSP00000219478:K354R	ENSP00000219478:K354R	K	-	2	0	ZNF500	4742760	0.000000	0.05858	0.327000	0.25402	0.590000	0.36582	-2.440000	0.01016	0.005000	0.14708	0.533000	0.62120	AAG		0.622	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1		XM_085507		111	117	0	0	0	0.01441	0	111	117		
ITPRIPL2	162073	broad.mit.edu	37	16	19125972	19125972	+	Silent	SNP	C	C	A	rs543086638		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:19125972C>A	ENST00000381440.3	+	1	719	c.189C>A	c.(187-189)ctC>ctA	p.L63L	CTD-2349B8.1_ENST00000564808.2_Missense_Mutation_p.P45T	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	63						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCTATGTCCTCCTGCGCTGTC	0.721																																						uc002dfu.3		NaN																	0				skin(2)	2						c.(187-189)CTC>CTA		inositol 1,4,5-triphosphate receptor interacting																																				SO:0001819	synonymous_variant	162073					integral to membrane		g.chr16:19125972C>A		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.189C>A	16.37:g.19125972C>A						ITPRIPL2_uc002dft.2_5'UTR	p.L63L	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN			1	719	+			63			Helical; (Potential).			Silent	SNP	ENST00000381440.3	37	c.189C>A	CCDS32395.1																																																																																				0.721	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3		NM_001034841		8	55	1	0	0.00448238	0.004482	0.00451213	8	55		
RABEP2	79874	broad.mit.edu	37	16	28925598	28925598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:28925598G>A	ENST00000358201.4	-	5	1441	c.853C>T	c.(853-855)Cag>Tag	p.Q285*	RABEP2_ENST00000357573.6_Nonsense_Mutation_p.Q285*|RABEP2_ENST00000544477.1_Nonsense_Mutation_p.Q214*|RABEP2_ENST00000561803.1_5'Flank	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	285					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GGGACGAGCTGGTAGCCAGGA	0.652																																					Pancreas(66;639 1284 10093 31061 49099)	uc002drq.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(853-855)CAG>TAG		rabaptin, RAB GTPase binding effector protein 2							25.0	29.0	27.0					16																	28925598		2040	4180	6220	SO:0001587	stop_gained	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28925598G>A	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.853C>T	16.37:g.28925598G>A	ENSP00000350934:p.Gln285*					uc010vct.1_Intron|RABEP2_uc010vdf.1_Nonsense_Mutation_p.Q214*|RABEP2_uc010byn.2_Nonsense_Mutation_p.Q285*|RABEP2_uc002drr.2_Nonsense_Mutation_p.Q285*	p.Q285*	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN			5	901	-			285						Nonsense_Mutation	SNP	ENST00000358201.4	37	c.853C>T	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.734911	0.69189	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	.	.	.	5.27	5.27	0.74061	.	0.135690	0.49916	D	0.000130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-32.4119	17.6686	0.88210	0.0:0.0:1.0:0.0	.	.	.	.	X	285;285;214	.	ENSP00000350186:Q285X	Q	-	1	0	RABEP2	28833099	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.228000	0.58619	2.457000	0.83068	0.462000	0.41574	CAG		0.652	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1		NM_024816		26	82	0	0	0	0.004656	0	26	82		
HIRIP3	8479	broad.mit.edu	37	16	30004529	30004529	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:30004529C>T	ENST00000279392.3	-	7	2500	c.1670G>A	c.(1669-1671)tGa>tAa	p.*557*	HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000563197.1_5'Flank|HIRIP3_ENST00000564026.1_3'UTR	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	0					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TGGCAGAGCTCAGTTACTCTC	0.567																																						uc002dve.2		NaN																	0				central_nervous_system(1)	1						c.(1669-1671)TGA>TAA		HIRA interacting protein 3							46.0	44.0	45.0					16																	30004529		2197	4300	6497	SO:0001819	synonymous_variant	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30004529C>T	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.1670G>A	16.37:g.30004529C>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|HIRIP3_uc002dvf.2_3'UTR	p.*557*	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN			7	2131	-			557					H3BSR3|O75707|O75708	Silent	SNP	ENST00000279392.3	37	c.1670G>A	CCDS10664.1																																																																																				0.567	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2		NM_003609		69	58	0	0	0	0.01441	0	69	58		
MT1H	4496	broad.mit.edu	37	16	56703818	56703818	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:56703818G>A	ENST00000332374.4	+	1	93	c.22G>A	c.(22-24)Gag>Aag	p.E8K	MT1G_ENST00000568675.1_5'Flank|MT1G_ENST00000569500.1_5'Flank|MT1G_ENST00000444837.2_5'Flank|MT1H_ENST00000569155.1_Missense_Mutation_p.E8K|MT1G_ENST00000379811.3_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	8	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						CTGCTCCTGCGAGGCTGGTAA	0.567																																						uc002ejw.2		NaN																	0					0						c.(22-24)GAG>AAG		metallothionein 1H							134.0	127.0	129.0					16																	56703818		2198	4300	6498	SO:0001583	missense	4496						metal ion binding|protein binding	g.chr16:56703818G>A	BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"""Metallothioneins"""	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.22G>A	16.37:g.56703818G>A	ENSP00000330587:p.Glu8Lys					MT1G_uc002eju.1_5'Flank|MT1G_uc002ejv.1_5'Flank	p.E8K	NM_005951	NP_005942	P80294	MT1H_HUMAN			1	93	+			8			Beta.		B2RUY6	Missense_Mutation	SNP	ENST00000332374.4	37	c.22G>A	CCDS10767.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013053	0.35511	.	.	ENSG00000205358	ENST00000332374	T	0.09350	2.99	3.01	-2.62	0.06152	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.520105	0.15614	U	0.253222	T	0.06917	0.0176	.	.	.	0.09310	N	1	B	0.21821	0.061	B	0.17722	0.019	T	0.23655	-1.0182	9	0.72032	D	0.01	-1.3024	5.7292	0.18030	0.0:0.3421:0.3103:0.3476	.	8	P80294	MT1H_HUMAN	K	8	ENSP00000330587:E8K	ENSP00000330587:E8K	E	+	1	0	MT1H	55261319	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-2.425000	0.01028	-0.653000	0.05401	0.573000	0.79308	GAG		0.567	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257063.1		NM_005951		69	277	0	0	0	0.01441	0	69	277		
NDRG4	65009	broad.mit.edu	37	16	58538305	58538305	+	Silent	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:58538305C>G	ENST00000570248.1	+	4	397	c.291C>G	c.(289-291)ccC>ccG	p.P97P	NDRG4_ENST00000563799.1_Silent_p.P115P|NDRG4_ENST00000394279.2_Silent_p.P129P|NDRG4_ENST00000258187.5_Silent_p.P129P|NDRG4_ENST00000356752.4_Silent_p.P127P|NDRG4_ENST00000569923.1_Silent_p.P42P|NDRG4_ENST00000568640.1_Silent_p.P115P|NDRG4_ENST00000394282.4_Silent_p.P149P|NDRG4_ENST00000566192.1_Silent_p.P97P|NDRG4_ENST00000562999.1_Silent_p.P97P	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	97					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CCATGCTCCCCAGCGTGGTGC	0.677																																						uc002eno.2		NaN																	0				skin(1)	1						c.(289-291)CCC>CCG		NDRG family member 4 isoform 1							97.0	102.0	100.0					16																	58538305		2198	4300	6498	SO:0001819	synonymous_variant	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58538305C>G	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.291C>G	16.37:g.58538305C>G						NDRG4_uc002enk.2_Silent_p.P129P|NDRG4_uc002enm.2_Silent_p.P149P|NDRG4_uc010vif.1_Silent_p.P129P|NDRG4_uc010cdk.2_Silent_p.P115P|NDRG4_uc010vig.1_Silent_p.P127P|NDRG4_uc010vih.1_Silent_p.P42P|NDRG4_uc010vii.1_Silent_p.P115P|NDRG4_uc002enp.2_Silent_p.P97P|NDRG4_uc002enq.1_5'Flank	p.P97P	NM_022910	NP_075061	Q9ULP0	NDRG4_HUMAN			4	397	+			97					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	ENST00000570248.1	37	c.291C>G	CCDS58466.1																																																																																				0.677	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2				216	214	0	0	0	0.01441	0	216	214		
FAM65A	79567	broad.mit.edu	37	16	67574554	67574554	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:67574554G>C	ENST00000379312.3	+	10	881	c.760G>C	c.(760-762)Gac>Cac	p.D254H	CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.D264H|FAM65A_ENST00000042381.4_Missense_Mutation_p.D250H|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000422602.2_Missense_Mutation_p.D270H|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.D270H	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	254						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCAGGTGTGGGACAGTGAAGA	0.547																																						uc010vjp.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(808-810)GAC>CAC		hypothetical protein LOC79567							250.0	221.0	231.0					16																	67574554		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67574554G>C	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.760G>C	16.37:g.67574554G>C	ENSP00000368614:p.Asp254His					FAM65A_uc010cei.1_Missense_Mutation_p.D92H|FAM65A_uc002eth.2_Missense_Mutation_p.D250H|FAM65A_uc010cej.2_Missense_Mutation_p.D253H|FAM65A_uc002eti.1_Missense_Mutation_p.D213H|FAM65A_uc010vjq.1_Missense_Mutation_p.D264H|FAM65A_uc002etj.1_Missense_Mutation_p.D249H|FAM65A_uc002etk.2_Missense_Mutation_p.D249H	p.D270H	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	10	904	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	254					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.808G>C	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.152136|5.152136	0.94645|0.94645	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.02606|.	4.23;4.23;4.23|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79058|0.79058	0.4382|0.4382	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.999|.	T|T	0.79533|0.79533	-0.1764|-0.1764	10|5	0.87932|.	D|.	0|.	-20.1218|-20.1218	19.2133|19.2133	0.93766|0.93766	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	264;270;254;270|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	H|A	254;250;270;264|244	ENSP00000368614:D254H;ENSP00000042381:D250H;ENSP00000400099:D270H|.	ENSP00000042381:D250H|.	D|G	+|+	1|2	0|0	FAM65A|FAM65A	66132055|66132055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.748000|9.748000	0.98867|0.98867	2.553000|2.553000	0.86117|0.86117	0.555000|0.555000	0.69702|0.69702	GAC|GGA		0.547	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3		NM_024519		193	174	0	0	0	0.01441	0	193	174		
ESRP2	80004	broad.mit.edu	37	16	68266170	68266170	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:68266170C>G	ENST00000565858.1	-	9	1092	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q	ESRP2_ENST00000473183.2_Missense_Mutation_p.E326Q	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	336	RRM 1.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TTTACAAACTCCTCCCCTGTC	0.582																																						uc010cfa.1		NaN																	0				ovary(1)	1						c.(1006-1008)GAG>CAG		RNA binding motif protein 35B							166.0	158.0	161.0					16																	68266170		2198	4300	6498	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68266170C>G	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1006G>C	16.37:g.68266170C>G	ENSP00000454554:p.Glu336Gln					ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.E326Q	p.E336Q	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN			9	1194	-			336			RRM 1.		Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.1006G>C		.	.	.	.	.	.	.	.	.	.	C	22.5	4.303306	0.81136	.	.	ENSG00000103067	ENST00000473183	T	0.32515	1.45	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.50956	0.1646	L	0.58669	1.825	0.80722	D	1	D;D	0.71674	0.998;0.98	D;P	0.63703	0.917;0.907	T	0.27905	-1.0060	10	0.30078	T	0.28	-21.2419	19.3557	0.94412	0.0:1.0:0.0:0.0	.	336;326	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	Q	326	ENSP00000418748:E326Q	ENSP00000418748:E326Q	E	-	1	0	ESRP2	66823671	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	6.000000	0.70678	2.686000	0.91538	0.561000	0.74099	GAG		0.582	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1		NM_024939		56	70	0	0	0	0.01441	0	56	70		
SLC7A6OS	84138	broad.mit.edu	37	16	68335260	68335260	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:68335260C>G	ENST00000263997.6	-	5	866	c.848G>C	c.(847-849)aGa>aCa	p.R283T	SLC7A6_ENST00000566454.1_3'UTR|SLC7A6_ENST00000219343.6_3'UTR	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	283					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CATCCGCTGTCTGCTGCTGCC	0.522																																						uc002evw.1		NaN																	0				ovary(1)	1						c.(847-849)AGA>ACA		solute carrier family 7, member 6 opposite							190.0	148.0	162.0					16																	68335260		2198	4300	6498	SO:0001583	missense	84138				protein transport	cytoplasm|nucleus		g.chr16:68335260C>G		CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.848G>C	16.37:g.68335260C>G	ENSP00000263997:p.Arg283Thr					SLC7A6_uc002evt.1_3'UTR|SLC7A6_uc002evu.1_3'UTR|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	p.R283T	NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)	5	867	-		Ovarian(137;0.192)	283					Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	ENST00000263997.6	37	c.848G>C	CCDS10865.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.294180	0.23564	.	.	ENSG00000103061	ENST00000263997	T	0.23552	1.9	5.39	4.42	0.53409	.	0.243572	0.49916	D	0.000139	T	0.36413	0.0966	M	0.66939	2.045	0.09310	N	0.999997	P	0.47762	0.9	P	0.49999	0.628	T	0.22068	-1.0227	10	0.59425	D	0.04	-22.1683	10.8734	0.46896	0.0:0.9107:0.0:0.0893	.	283	Q96CW6	S7A6O_HUMAN	T	283	ENSP00000263997:R283T	ENSP00000263997:R283T	R	-	2	0	SLC7A6OS	66892761	0.059000	0.20769	0.040000	0.18447	0.119000	0.20118	1.480000	0.35464	1.388000	0.46506	0.655000	0.94253	AGA		0.522	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3		NM_032178		73	79	0	0	0	0.01441	0	73	79		
PKD1L2	114780	broad.mit.edu	37	16	81241228	81241228	+	RNA	SNP	A	A	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:81241228A>T	ENST00000525539.1	-	0	772				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTGGACACCATCAGCTGCAG	0.443																																						uc002fgh.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(772-774)ATG>AAG		polycystin 1-like 2 isoform a							109.0	109.0	109.0					16																	81241228		1984	4158	6142			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81241228A>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81241228A>T						PKD1L2_uc002fgj.2_Missense_Mutation_p.M258K	p.M258K	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			5	773	-			258			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.773T>A		.	.	.	.	.	.	.	.	.	.	A	7.079	0.569775	0.13560	.	.	ENSG00000166473	ENST00000337114	T	0.01246	5.11	5.47	-10.7	0.00240	.	1.522760	0.03903	N	0.280692	T	0.00845	0.0028	.	.	.	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.15870	0.014;0.004	T	0.47005	-0.9150	9	0.27082	T	0.32	0.0	4.326	0.11039	0.1763:0.189:0.4495:0.1852	.	258;258	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	K	258	ENSP00000337397:M258K	ENSP00000337397:M258K	M	-	2	0	PKD1L2	79798729	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.049000	0.14099	-1.885000	0.01118	-1.287000	0.01368	ATG		0.443	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2				65	85	0	0	0	0.01441	0	65	85		
TSR1	55720	broad.mit.edu	37	17	2237950	2237950	+	Missense_Mutation	SNP	T	T	C	rs373777758		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:2237950T>C	ENST00000301364.5	-	5	1876	c.797A>G	c.(796-798)aAt>aGt	p.N266S	SGSM2_ENST00000268989.3_5'Flank|SGSM2_ENST00000426855.2_5'Flank|SGSM2_ENST00000574563.1_5'Flank|TSR1_ENST00000576112.2_Missense_Mutation_p.N250S	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	266					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CACCAAGTTATTCTCTTCACT	0.458																																						uc002fuj.2		NaN																	0				ovary(1)	1						c.(796-798)AAT>AGT		TSR1, 20S rRNA accumulation							105.0	102.0	103.0					17																	2237950		2203	4300	6503	SO:0001583	missense	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2237950T>C	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.797A>G	17.37:g.2237950T>C	ENSP00000301364:p.Asn266Ser					SGSM2_uc002fum.3_5'Flank|SGSM2_uc010vqw.1_5'Flank|SGSM2_uc002fun.3_5'Flank	p.N266S	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN			5	1754	-			266					Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	c.797A>G	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	T	1.983	-0.433573	0.04669	.	.	ENSG00000167721	ENST00000301364	T	0.40476	1.03	5.4	0.345	0.16011	AARP2CN (2);	0.450432	0.27664	N	0.018368	T	0.08626	0.0214	N	0.00296	-1.695	0.22926	N	0.998552	B	0.02656	0.0	B	0.04013	0.001	T	0.41106	-0.9527	10	0.05721	T	0.95	-11.396	8.8315	0.35087	0.0:0.6489:0.0:0.3511	.	266	Q2NL82	TSR1_HUMAN	S	266	ENSP00000301364:N266S	ENSP00000301364:N266S	N	-	2	0	TSR1	2184700	0.838000	0.29461	0.807000	0.32361	0.883000	0.51084	0.622000	0.24433	0.054000	0.16065	0.533000	0.62120	AAT		0.458	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2		NM_018128		104	311	0	0	0	0.01441	0	104	311		
ZNF624	57547	broad.mit.edu	37	17	16526354	16526354	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526354C>T	ENST00000311331.7	-	6	1937	c.1846G>A	c.(1846-1848)Gac>Aac	p.D616N		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	616					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTCTCGCAGTCAGTACATTTA	0.383																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1846-1848)GAC>AAC		zinc finger protein 624							152.0	159.0	156.0					17																	16526354		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526354C>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1846G>A	17.37:g.16526354C>T	ENSP00000310472:p.Asp616Asn						p.D616N	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1929	-			616			C2H2-type 13.		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.1846G>A	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992265	0.54041	.	.	ENSG00000197566	ENST00000311331	T	0.07327	3.2	2.98	2.98	0.34508	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07369	0.0186	N	0.04959	-0.14	0.27070	N	0.963332	P	0.47191	0.891	P	0.48677	0.586	T	0.30995	-0.9959	9	0.72032	D	0.01	.	12.2657	0.54676	0.0:1.0:0.0:0.0	.	616	Q9P2J8	ZN624_HUMAN	N	616	ENSP00000310472:D616N	ENSP00000310472:D616N	D	-	1	0	ZNF624	16467079	0.003000	0.15002	1.000000	0.80357	0.874000	0.50279	0.718000	0.25866	1.974000	0.57490	0.650000	0.86243	GAC		0.383	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		161	197	0	0	0	0.01441	0	161	197		
ZNF624	57547	broad.mit.edu	37	17	16526391	16526391	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526391C>G	ENST00000311331.7	-	6	1900	c.1809G>C	c.(1807-1809)caG>caC	p.Q603H		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	603					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGTGAATTCTCTGATGTACAG	0.378																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1807-1809)CAG>CAC		zinc finger protein 624							130.0	134.0	132.0					17																	16526391		2203	4299	6502	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526391C>G	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1809G>C	17.37:g.16526391C>G	ENSP00000310472:p.Gln603His						p.Q603H	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1892	-			603			C2H2-type 12.		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.1809G>C	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873221	0.33069	.	.	ENSG00000197566	ENST00000311331	T	0.07567	3.18	2.98	2.0	0.26442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14787	0.0357	L	0.54965	1.715	0.28817	N	0.897907	D	0.57899	0.981	P	0.56127	0.792	T	0.08659	-1.0711	9	0.56958	D	0.05	.	4.9122	0.13827	0.0:0.7236:0.0:0.2764	.	603	Q9P2J8	ZN624_HUMAN	H	603	ENSP00000310472:Q603H	ENSP00000310472:Q603H	Q	-	3	2	ZNF624	16467116	0.000000	0.05858	1.000000	0.80357	0.987000	0.75469	-0.434000	0.06939	0.824000	0.34613	0.650000	0.86243	CAG		0.378	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		149	164	0	0	0	0.01441	0	149	164		
ZNF624	57547	broad.mit.edu	37	17	16526600	16526600	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526600C>T	ENST00000311331.7	-	6	1691	c.1600G>A	c.(1600-1602)Ggg>Agg	p.G534R		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	534					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AATGCTTTCCCACATTCATTA	0.383																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1600-1602)GGG>AGG		zinc finger protein 624							97.0	103.0	101.0					17																	16526600		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526600C>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1600G>A	17.37:g.16526600C>T	ENSP00000310472:p.Gly534Arg						p.G534R	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1683	-			534			C2H2-type 10.		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.1600G>A	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285409	0.59867	.	.	ENSG00000197566	ENST00000311331	T	0.03524	3.9	2.88	2.88	0.33553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16811	0.0404	M	0.80028	2.48	0.38668	D	0.952233	D	0.89917	1.0	D	0.76575	0.988	T	0.02958	-1.1089	9	0.72032	D	0.01	.	11.985	0.53142	0.0:1.0:0.0:0.0	.	534	Q9P2J8	ZN624_HUMAN	R	534	ENSP00000310472:G534R	ENSP00000310472:G534R	G	-	1	0	ZNF624	16467325	0.940000	0.31905	1.000000	0.80357	0.996000	0.88848	1.750000	0.38329	1.907000	0.55213	0.561000	0.74099	GGG		0.383	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		92	87	0	0	0	0.01441	0	92	87		
ZNF624	57547	broad.mit.edu	37	17	16526725	16526725	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526725C>T	ENST00000311331.7	-	6	1566	c.1475G>A	c.(1474-1476)aGa>aAa	p.R492K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	492					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGTGTGAGTTCTTATATGTAC	0.383																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1474-1476)AGA>AAA		zinc finger protein 624							85.0	86.0	86.0					17																	16526725		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526725C>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1475G>A	17.37:g.16526725C>T	ENSP00000310472:p.Arg492Lys						p.R492K	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1558	-			492			C2H2-type 8.		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.1475G>A	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558600	0.27827	.	.	ENSG00000197566	ENST00000311331	T	0.18338	2.22	2.89	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19644	0.0472	L	0.55103	1.725	0.26103	N	0.980797	B	0.31153	0.31	B	0.34652	0.187	T	0.10520	-1.0626	9	0.39692	T	0.17	.	12.0006	0.53228	0.0:1.0:0.0:0.0	.	492	Q9P2J8	ZN624_HUMAN	K	492	ENSP00000310472:R492K	ENSP00000310472:R492K	R	-	2	0	ZNF624	16467450	0.000000	0.05858	1.000000	0.80357	0.923000	0.55619	0.226000	0.17776	1.907000	0.55213	0.563000	0.77884	AGA		0.383	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		81	92	0	0	0	0.01441	0	81	92		
ZNF624	57547	broad.mit.edu	37	17	16526782	16526782	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526782C>G	ENST00000311331.7	-	6	1509	c.1418G>C	c.(1417-1419)aGa>aCa	p.R473T		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	473					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCGTTACATCTAAAAGGTTT	0.373																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1417-1419)AGA>ACA		zinc finger protein 624							75.0	75.0	75.0					17																	16526782		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526782C>G	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1418G>C	17.37:g.16526782C>G	ENSP00000310472:p.Arg473Thr						p.R473T	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1501	-			473			C2H2-type 8.		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.1418G>C	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530874	0.27387	.	.	ENSG00000197566	ENST00000311331	T	0.44083	0.93	2.89	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24044	0.0582	N	0.10664	0.02	0.09310	N	1	B	0.21905	0.062	B	0.27262	0.078	T	0.14980	-1.0453	9	0.51188	T	0.08	.	8.0409	0.30521	0.0:0.7478:0.2522:0.0	.	473	Q9P2J8	ZN624_HUMAN	T	473	ENSP00000310472:R473T	ENSP00000310472:R473T	R	-	2	0	ZNF624	16467507	0.000000	0.05858	0.985000	0.45067	0.993000	0.82548	-0.675000	0.05227	1.907000	0.55213	0.563000	0.77884	AGA		0.373	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		68	69	0	0	0	0.01441	0	68	69		
ZNF624	57547	broad.mit.edu	37	17	16526838	16526838	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526838C>G	ENST00000311331.7	-	6	1453	c.1362G>C	c.(1360-1362)aaG>aaC	p.K454N		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	454					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTGTGGTATTCTTAAAAGACT	0.383																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1360-1362)AAG>AAC		zinc finger protein 624							83.0	84.0	83.0					17																	16526838		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526838C>G	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1362G>C	17.37:g.16526838C>G	ENSP00000310472:p.Lys454Asn						p.K454N	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1445	-			454			C2H2-type 7.		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.1362G>C	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342992	0.24339	.	.	ENSG00000197566	ENST00000311331	T	0.07444	3.19	2.99	2.99	0.34606	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07098	0.0180	N	0.21240	0.645	0.24261	N	0.995287	P	0.47191	0.891	P	0.46172	0.506	T	0.29579	-1.0007	9	0.20519	T	0.43	.	7.5834	0.27978	0.2541:0.7459:0.0:0.0	.	454	Q9P2J8	ZN624_HUMAN	N	454	ENSP00000310472:K454N	ENSP00000310472:K454N	K	-	3	2	ZNF624	16467563	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-1.658000	0.01977	1.993000	0.58246	0.558000	0.71614	AAG		0.383	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		56	67	0	0	0	0.01441	0	56	67		
ZNF624	57547	broad.mit.edu	37	17	16526858	16526858	+	Missense_Mutation	SNP	C	C	T	rs138787716		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526858C>T	ENST00000311331.7	-	6	1433	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	448					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCCCACACTCGTTGCACTGA	0.388																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1342-1344)GAG>AAG		zinc finger protein 624		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	97.0	96.0	96.0		1342	3.0	1.0	17	dbSNP_134	96	0,8600		0,0,4300	no	missense	ZNF624	NM_020787.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	448/866	16526858	1,13005	2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526858C>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1342G>A	17.37:g.16526858C>T	ENSP00000310472:p.Glu448Lys						p.E448K	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1425	-			448			C2H2-type 7.		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.1342G>A	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239130	0.39598	2.27E-4	0.0	ENSG00000197566	ENST00000311331	T	0.41065	1.01	2.99	2.99	0.34606	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24547	0.0595	N	0.20574	0.59	0.19575	N	0.999967	P	0.40660	0.726	B	0.34385	0.181	T	0.08027	-1.0742	9	0.54805	T	0.06	.	8.2742	0.31862	0.0:0.7545:0.2455:0.0	.	448	Q9P2J8	ZN624_HUMAN	K	448	ENSP00000310472:E448K	ENSP00000310472:E448K	E	-	1	0	ZNF624	16467583	0.000000	0.05858	0.998000	0.56505	0.912000	0.54170	0.136000	0.15974	1.993000	0.58246	0.558000	0.71614	GAG		0.388	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		55	71	0	0	0	0.01441	0	55	71		
ZNF624	57547	broad.mit.edu	37	17	16526922	16526922	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526922C>T	ENST00000311331.7	-	6	1369	c.1278G>A	c.(1276-1278)agG>agA	p.R426R		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	426					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATGACTTGTTCCTAAAGGCTT	0.388																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1276-1278)AGG>AGA		zinc finger protein 624							124.0	122.0	123.0					17																	16526922		2203	4300	6503	SO:0001819	synonymous_variant	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526922C>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1278G>A	17.37:g.16526922C>T							p.R426R	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1361	-			426			C2H2-type 6.		Q3SY62|Q3SY63|Q6ZN27	Silent	SNP	ENST00000311331.7	37	c.1278G>A	CCDS11180.1																																																																																				0.388	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		61	66	0	0	0	0.01441	0	61	66		
ZNF624	57547	broad.mit.edu	37	17	16526945	16526945	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526945C>G	ENST00000311331.7	-	6	1346	c.1255G>C	c.(1255-1257)Gat>Cat	p.D419H		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	419					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCACAATCATCACATTTGTAG	0.403																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1255-1257)GAT>CAT		zinc finger protein 624							131.0	128.0	129.0					17																	16526945		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526945C>G	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1255G>C	17.37:g.16526945C>G	ENSP00000310472:p.Asp419His						p.D419H	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1338	-			419			C2H2-type 6.		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.1255G>C	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	3.832	-0.035589	0.07497	.	.	ENSG00000197566	ENST00000311331	T	0.03889	3.77	2.79	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04724	0.0128	L	0.45051	1.395	0.09310	N	1	B	0.28850	0.225	B	0.32211	0.142	T	0.41662	-0.9496	9	0.48119	T	0.1	.	2.0879	0.03650	0.2567:0.154:0.0:0.5893	.	419	Q9P2J8	ZN624_HUMAN	H	419	ENSP00000310472:D419H	ENSP00000310472:D419H	D	-	1	0	ZNF624	16467670	0.000000	0.05858	0.992000	0.48379	0.981000	0.71138	-1.751000	0.01821	0.496000	0.27904	-0.471000	0.05019	GAT		0.403	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		59	69	0	0	0	0.01441	0	59	69		
ZNF624	57547	broad.mit.edu	37	17	16526963	16526963	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526963C>T	ENST00000311331.7	-	6	1328	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	413					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TAGGGTTTCTCACCATTGTGA	0.388																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1237-1239)GAG>AAG		zinc finger protein 624							127.0	125.0	125.0					17																	16526963		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526963C>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1237G>A	17.37:g.16526963C>T	ENSP00000310472:p.Glu413Lys						p.E413K	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1320	-			413					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.1237G>A	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397888	0.42512	.	.	ENSG00000197566	ENST00000311331	T	0.24350	1.86	2.78	2.78	0.32641	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24661	0.0598	L	0.42686	1.345	0.33997	D	0.649853	P	0.35033	0.481	B	0.37989	0.262	T	0.44050	-0.9353	9	0.54805	T	0.06	.	11.7655	0.51928	0.0:1.0:0.0:0.0	.	413	Q9P2J8	ZN624_HUMAN	K	413	ENSP00000310472:E413K	ENSP00000310472:E413K	E	-	1	0	ZNF624	16467688	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	4.246000	0.58740	1.873000	0.54277	0.557000	0.71058	GAG		0.388	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		58	71	0	0	0	0.01441	0	58	71		
ZNF624	57547	broad.mit.edu	37	17	16527313	16527313	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527313C>G	ENST00000311331.7	-	6	978	c.887G>C	c.(886-888)aGa>aCa	p.R296T		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	296					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGTATGAGTTCTTTGATGTTG	0.348																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(886-888)AGA>ACA		zinc finger protein 624							110.0	115.0	113.0					17																	16527313		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527313C>G	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.887G>C	17.37:g.16527313C>G	ENSP00000310472:p.Arg296Thr						p.R296T	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	970	-			296			C2H2-type 1.		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.887G>C	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.281015	0.40394	.	.	ENSG00000197566	ENST00000311331	T	0.02421	4.3	3.32	2.32	0.28847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	L	0.45228	1.405	0.30865	N	0.733041	P	0.50943	0.94	B	0.39217	0.294	T	0.32025	-0.9922	9	0.56958	D	0.05	.	9.7325	0.40370	0.2082:0.7918:0.0:0.0	.	296	Q9P2J8	ZN624_HUMAN	T	296	ENSP00000310472:R296T	ENSP00000310472:R296T	R	-	2	0	ZNF624	16468038	0.000000	0.05858	1.000000	0.80357	0.974000	0.67602	-0.687000	0.05156	0.728000	0.32382	0.563000	0.77884	AGA		0.348	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		90	65	0	0	0	0.01441	0	90	65		
ZNF624	57547	broad.mit.edu	37	17	16527465	16527465	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527465C>G	ENST00000311331.7	-	6	826	c.735G>C	c.(733-735)aaG>aaC	p.K245N		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	245					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGCAAATTATCTTCCCCAAAT	0.383																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(733-735)AAG>AAC		zinc finger protein 624							119.0	124.0	122.0					17																	16527465		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527465C>G	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.735G>C	17.37:g.16527465C>G	ENSP00000310472:p.Lys245Asn						p.K245N	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	818	-			245					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.735G>C	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	8.104	0.777250	0.16120	.	.	ENSG00000197566	ENST00000311331	T	0.05580	3.42	3.47	3.47	0.39725	.	.	.	.	.	T	0.07458	0.0188	L	0.50333	1.59	0.09310	N	1	B	0.19583	0.037	B	0.18263	0.021	T	0.16335	-1.0406	9	0.72032	D	0.01	.	6.8318	0.23915	0.0:0.8735:0.0:0.1265	.	245	Q9P2J8	ZN624_HUMAN	N	245	ENSP00000310472:K245N	ENSP00000310472:K245N	K	-	3	2	ZNF624	16468190	0.000000	0.05858	0.350000	0.25708	0.283000	0.27025	0.102000	0.15272	1.962000	0.57031	0.563000	0.77884	AAG		0.383	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		100	101	0	0	0	0.01441	0	100	101		
ZNF624	57547	broad.mit.edu	37	17	16527501	16527501	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527501C>G	ENST00000311331.7	-	6	790	c.699G>C	c.(697-699)gaG>gaC	p.E233D		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	233					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AATTTAAATTCTCTGTGAAAT	0.393																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(697-699)GAG>GAC		zinc finger protein 624							104.0	107.0	106.0					17																	16527501		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527501C>G	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.699G>C	17.37:g.16527501C>G	ENSP00000310472:p.Glu233Asp						p.E233D	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	782	-			233					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.699G>C	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	0.076	-1.191867	0.01607	.	.	ENSG00000197566	ENST00000311331	T	0.05199	3.48	3.06	-1.61	0.08399	.	.	.	.	.	T	0.02888	0.0086	N	0.16066	0.365	0.23198	N	0.998134	B	0.06786	0.001	B	0.04013	0.001	T	0.47837	-0.9086	9	0.16420	T	0.52	.	3.3856	0.07270	0.3361:0.4314:0.0:0.2325	.	233	Q9P2J8	ZN624_HUMAN	D	233	ENSP00000310472:E233D	ENSP00000310472:E233D	E	-	3	2	ZNF624	16468226	0.000000	0.05858	0.141000	0.22245	0.158000	0.22134	-1.814000	0.01723	-0.290000	0.09025	-0.905000	0.02835	GAG		0.393	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		82	91	0	0	0	0.01441	0	82	91		
ZNF624	57547	broad.mit.edu	37	17	16527670	16527670	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527670C>G	ENST00000311331.7	-	6	621	c.530G>C	c.(529-531)aGa>aCa	p.R177T		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	177					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATTTTGTAATCTCAATATCCT	0.358																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(529-531)AGA>ACA		zinc finger protein 624							99.0	98.0	98.0					17																	16527670		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527670C>G	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.530G>C	17.37:g.16527670C>G	ENSP00000310472:p.Arg177Thr						p.R177T	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	613	-			177					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.530G>C	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	3.902	-0.021739	0.07634	.	.	ENSG00000197566	ENST00000311331	T	0.05649	3.41	2.95	0.953	0.19590	.	.	.	.	.	T	0.04363	0.0120	L	0.38175	1.15	0.24677	N	0.993385	B	0.15141	0.012	B	0.04013	0.001	T	0.46527	-0.9185	9	0.15499	T	0.54	.	3.3638	0.07196	0.0:0.524:0.2204:0.2557	.	177	Q9P2J8	ZN624_HUMAN	T	177	ENSP00000310472:R177T	ENSP00000310472:R177T	R	-	2	0	ZNF624	16468395	0.000000	0.05858	0.175000	0.22980	0.033000	0.12548	-0.087000	0.11215	0.301000	0.22738	-0.136000	0.14681	AGA		0.358	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		83	72	0	0	0	0.01441	0	83	72		
ZNF624	57547	broad.mit.edu	37	17	16527693	16527693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527693C>T	ENST00000311331.7	-	6	598	c.507G>A	c.(505-507)tgG>tgA	p.W169*		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	169					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CATTCCATTTCCATAACCCTT	0.383																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(505-507)TGG>TGA		zinc finger protein 624							108.0	105.0	106.0					17																	16527693		2203	4300	6503	SO:0001587	stop_gained	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527693C>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.507G>A	17.37:g.16527693C>T	ENSP00000310472:p.Trp169*						p.W169*	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	590	-			169					Q3SY62|Q3SY63|Q6ZN27	Nonsense_Mutation	SNP	ENST00000311331.7	37	c.507G>A	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077257	0.76415	.	.	ENSG00000197566	ENST00000311331	.	.	.	2.95	2.95	0.34219	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	7.4631	0.27306	0.2574:0.7426:0.0:0.0	.	.	.	.	X	169	.	ENSP00000310472:W169X	W	-	3	0	ZNF624	16468418	0.816000	0.29132	1.000000	0.80357	0.598000	0.36846	1.101000	0.31037	1.959000	0.56917	0.655000	0.94253	TGG		0.383	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		90	85	0	0	0	0.01441	0	90	85		
ZNF624	57547	broad.mit.edu	37	17	16527709	16527709	+	Missense_Mutation	SNP	C	C	T	rs568658927		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527709C>T	ENST00000311331.7	-	6	582	c.491G>A	c.(490-492)aGa>aAa	p.R164K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	164					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCCTTCCATTCTGGAATCCCA	0.393																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(490-492)AGA>AAA		zinc finger protein 624							111.0	108.0	109.0					17																	16527709		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527709C>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.491G>A	17.37:g.16527709C>T	ENSP00000310472:p.Arg164Lys						p.R164K	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	574	-			164					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.491G>A	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.046609	0.00398	.	.	ENSG00000197566	ENST00000311331	T	0.04083	3.71	2.95	-2.08	0.07254	.	.	.	.	.	T	0.01765	0.0056	N	0.12182	0.205	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.46148	-0.9212	9	0.02654	T	1	.	0.6227	0.00781	0.1788:0.3287:0.2491:0.2434	.	164	Q9P2J8	ZN624_HUMAN	K	164	ENSP00000310472:R164K	ENSP00000310472:R164K	R	-	2	0	ZNF624	16468434	0.000000	0.05858	0.039000	0.18376	0.226000	0.24999	-1.000000	0.03693	-0.369000	0.08028	0.655000	0.94253	AGA		0.393	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		85	97	0	0	0	0.01441	0	85	97		
ZNF624	57547	broad.mit.edu	37	17	16527767	16527767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527767C>T	ENST00000311331.7	-	6	524	c.433G>A	c.(433-435)Gat>Aat	p.D145N		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	145					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGTGATAAATCTTCAGAAATA	0.408																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(433-435)GAT>AAT		zinc finger protein 624							105.0	100.0	102.0					17																	16527767		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527767C>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.433G>A	17.37:g.16527767C>T	ENSP00000310472:p.Asp145Asn						p.D145N	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	516	-			145					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.433G>A	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	2.793	-0.250987	0.05867	.	.	ENSG00000197566	ENST00000311331	T	0.05025	3.51	2.95	0.947	0.19555	.	.	.	.	.	T	0.03011	0.0089	N	0.11064	0.09	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.48080	-0.9066	9	0.19147	T	0.46	.	5.2484	0.15510	0.0:0.6099:0.0:0.3901	.	145	Q9P2J8	ZN624_HUMAN	N	145	ENSP00000310472:D145N	ENSP00000310472:D145N	D	-	1	0	ZNF624	16468492	0.092000	0.21681	0.188000	0.23233	0.647000	0.38526	0.817000	0.27281	0.300000	0.22699	0.655000	0.94253	GAT		0.408	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		85	88	0	0	0	0.01441	0	85	88		
MYO15A	51168	broad.mit.edu	37	17	18022918	18022918	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:18022918C>A	ENST00000205890.5	+	2	1142	c.804C>A	c.(802-804)agC>agA	p.S268R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	268					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCCCTACAGCCCGGCCTGGC	0.642																																						uc010vxh.1		NaN																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(802-804)AGC>AGA		myosin XV							28.0	35.0	33.0					17																	18022918		2029	4164	6193	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022918C>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.804C>A	17.37:g.18022918C>A	ENSP00000205890:p.Ser268Arg						p.S268R	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			2	1142	+	all_neural(463;0.228)		268			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.804C>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	3.239	-0.155818	0.06544	.	.	ENSG00000091536	ENST00000205890	D	0.87887	-2.31	5.55	2.03	0.26663	.	.	.	.	.	T	0.74839	0.3769	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.66456	-0.5919	9	0.52906	T	0.07	.	12.2839	0.54781	0.1114:0.5476:0.341:0.0	.	268	Q9UKN7	MYO15_HUMAN	R	268	ENSP00000205890:S268R	ENSP00000205890:S268R	S	+	3	2	MYO15A	17963643	0.000000	0.05858	0.452000	0.26994	0.047000	0.14425	0.407000	0.21049	1.322000	0.45245	-0.311000	0.09066	AGC		0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1		NM_016239		272	39	1	0	1.59438e-142	0.01441	1.74806e-142	272	39		
ERBB2	2064	broad.mit.edu	37	17	37880261	37880261	+	Missense_Mutation	SNP	G	G	A	rs121913468		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:37880261G>A	ENST00000269571.5	+	19	2464	c.2305G>A	c.(2305-2307)Gac>Aac	p.D769N	ERBB2_ENST00000584450.1_Missense_Mutation_p.D769N|ERBB2_ENST00000540147.1_Missense_Mutation_p.D739N|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000406381.2_Missense_Mutation_p.D739N|ERBB2_ENST00000541774.1_Missense_Mutation_p.D754N|ERBB2_ENST00000584601.1_Missense_Mutation_p.D739N|ERBB2_ENST00000445658.2_Missense_Mutation_p.D493N			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	769	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.D769H(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	AGAAATCTTAGACGTAAGCCC	0.532		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		2	Substitution - Missense(2)	p.D769H(3)	stomach(1)|lung(1)	lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(2305-2307)GAC>AAC		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						95.0	82.0	86.0					17																	37880261		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37880261G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2305G>A	17.37:g.37880261G>A	ENSP00000269571:p.Asp769Asn	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.D739N|ERBB2_uc010cwa.2_Missense_Mutation_p.D754N|ERBB2_uc002hsp.2_Missense_Mutation_p.D572N|ERBB2_uc010cwb.2_Missense_Mutation_p.D769N|ERBB2_uc010wek.1_Missense_Mutation_p.D493N	p.D769N	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	19	2543	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	769			Cytoplasmic (Potential).|Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2305G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	36	5.844702	0.97016	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	5.02	5.02	0.67125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.83681	0.5307	N	0.11131	0.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.87850	0.2657	9	0.87932	D	0	.	17.957	0.89072	0.0:0.0:1.0:0.0	.	493;754;769	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	N	739;754;493;769;739	ENSP00000385185:D739N;ENSP00000446466:D754N;ENSP00000404047:D493N;ENSP00000269571:D769N;ENSP00000443562:D739N	ENSP00000269571:D769N	D	+	1	0	ERBB2	35133787	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	9.869000	0.99810	2.329000	0.79093	0.462000	0.41574	GAC		0.532	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2				256	18	0	0	0	0.01441	0	256	18		
KRTAP4-9	100132386	broad.mit.edu	37	17	39261731	39261731	+	Missense_Mutation	SNP	G	G	A	rs369890328	byFrequency	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:39261731G>A	ENST00000391415.1	+	1	148	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	31	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.E31Q(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CAGCTGCTGTGAGACCACCTG	0.637																																						uc010wfp.1		NaN																	1	Substitution - Missense(1)		endometrium(1)		0						c.(91-93)GAG>AAG		keratin associated protein 4-9							16.0	22.0	20.0					17																	39261731		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261731G>A	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.91G>A	17.37:g.39261731G>A	ENSP00000375234:p.Glu31Lys						p.E31K	NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN			1	91	+			31			2.|29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.91G>A	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	12.99	2.104462	0.37145	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.27256	1.68	3.31	-2.91	0.05631	.	.	.	.	.	T	0.08358	0.0208	N	0.02202	-0.64	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.39761	-0.9598	9	0.18710	T	0.47	.	7.3216	0.26531	0.2761:0.3069:0.4171:0.0	.	31	Q9BYQ8	KRA49_HUMAN	K	31	ENSP00000375234:E31K	ENSP00000334461:E31K	E	+	1	0	KRTAP4-9	36515257	0.000000	0.05858	0.038000	0.18304	0.335000	0.28730	-1.734000	0.01848	-0.249000	0.09569	-1.188000	0.01700	GAG		0.637	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1		NM_001146041		52	19	0	0	0	0.01441	0	52	19		
KAT2A	2648	broad.mit.edu	37	17	40265828	40265828	+	Missense_Mutation	SNP	G	G	A	rs201088859		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:40265828G>A	ENST00000225916.5	-	18	2406	c.2353C>T	c.(2353-2355)Cgc>Tgc	p.R785C	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	785	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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						ACGTAGTAGCGGCTTCGCAGC	0.632																																						uc002hyx.2		NaN																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.(2353-2355)CGC>TGC		general control of amino acid synthesis 5-like		G	CYS/ARG	0,4406		0,0,2203	22.0	26.0	24.0		2353	4.0	1.0	17		24	4,8596	3.7+/-12.6	0,4,4296	yes	missense	KAT2A	NM_021078.2	180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	785/838	40265828	4,13002	2203	4300	6503	SO:0001583	missense	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.chr17:40265828G>A	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.2353C>T	17.37:g.40265828G>A	ENSP00000225916:p.Arg785Cys					DHX58_uc002hyv.3_5'Flank|DHX58_uc002hyw.3_5'Flank|DHX58_uc010wgf.1_5'Flank	p.R785C	NM_021078	NP_066564	Q92830	KAT2A_HUMAN			18	2413	-			785			Bromo.		Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.2353C>T	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282104	0.80692	0.0	4.65E-4	ENSG00000108773	ENST00000225916	T	0.32023	1.47	5.03	4.03	0.46877	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.51276	-0.8726	10	0.62326	D	0.03	-17.1636	14.5079	0.67764	0.0:0.0:0.852:0.148	.	785	Q92830	KAT2A_HUMAN	C	785	ENSP00000225916:R785C	ENSP00000225916:R785C	R	-	1	0	KAT2A	37519354	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.591000	0.82666	1.078000	0.41014	0.556000	0.70494	CGC		0.632	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1		NM_021078		20	56	0	0	0	0.008871	0	20	56		
TLK2	11011	broad.mit.edu	37	17	60655841	60655841	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:60655841G>A	ENST00000326270.9	+	15	1526	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	TLK2_ENST00000582809.1_Missense_Mutation_p.E249K|TLK2_ENST00000346027.5_Missense_Mutation_p.E398K|TLK2_ENST00000343388.7_Missense_Mutation_p.E366K|TLK2_ENST00000542523.1_Missense_Mutation_p.E366K	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	420					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E420K(1)|p.E397K(1)|p.E398K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GCTTTAGGAGGAAGCAGAGAT	0.368																																						uc010ddp.2		NaN																	3	Substitution - Missense(3)		lung(3)	stomach(1)|kidney(1)	2						c.(1258-1260)GAA>AAA		tousled-like kinase 2 isoform A							75.0	75.0	75.0					17																	60655841		2203	4300	6503	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60655841G>A	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1258G>A	17.37:g.60655841G>A	ENSP00000316512:p.Glu420Lys					TLK2_uc002izx.3_Missense_Mutation_p.E246K|TLK2_uc002izz.3_Missense_Mutation_p.E398K|TLK2_uc002jaa.3_Missense_Mutation_p.E366K|TLK2_uc010wpd.1_Missense_Mutation_p.E366K	p.E420K	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN			15	1526	+			420			Potential.		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.1258G>A		.	.	.	.	.	.	.	.	.	.	G	17.85	3.489787	0.64074	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.67865	-0.27;-0.29;-0.25;-0.29	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.83585	0.5286	M	0.85630	2.765	0.80722	D	1	D;D;D;D	0.71674	0.995;0.995;0.995;0.998	D;D;D;D	0.69142	0.913;0.962;0.962;0.946	D	0.86136	0.1578	10	0.87932	D	0	-1.8999	18.333	0.90277	0.0:0.0:1.0:0.0	.	420;366;398;398	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	K	398;366;420;366	ENSP00000275780:E398K;ENSP00000340800:E366K;ENSP00000316512:E420K;ENSP00000442311:E366K	ENSP00000316512:E420K	E	+	1	0	TLK2	58009573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.640000	0.89533	0.655000	0.94253	GAA		0.368	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1		NM_006852		11	78	0	0	0	0.008291	0	11	78		
CEP112	201134	broad.mit.edu	37	17	64049896	64049896	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:64049896C>T	ENST00000392769.2	-	12	1394	c.1176G>A	c.(1174-1176)ctG>ctA	p.L392L	CEP112_ENST00000537949.1_Silent_p.L350L|CEP112_ENST00000541355.1_Silent_p.L27L|CEP112_ENST00000535342.2_Silent_p.L392L	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	392					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						CCATTTTATTCAGACGCACAT	0.388																																						uc002jfl.2		NaN																	0					0						c.(1174-1176)CTG>CTA		coiled-coil domain containing 46 isoform a							314.0	265.0	282.0					17																	64049896		2203	4300	6503	SO:0001819	synonymous_variant	201134					centrosome		g.chr17:64049896C>T	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.1176G>A	17.37:g.64049896C>T						CCDC46_uc010deo.2_Silent_p.L134L|CCDC46_uc002jfm.2_Silent_p.L392L|CCDC46_uc010dep.2_Silent_p.L350L	p.L392L	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		12	1395	-			392			Potential.		Q6PIB5|Q8NCR4|Q8NFR4	Silent	SNP	ENST00000392769.2	37	c.1176G>A	CCDS32710.1																																																																																				0.388	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1		NM_145036		41	206	0	0	0	0.009718	0	41	206		
NAT9	26151	broad.mit.edu	37	17	72767986	72767986	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:72767986G>A	ENST00000357814.3	-	7	574	c.501C>T	c.(499-501)agC>agT	p.S167S	NAT9_ENST00000580632.1_Silent_p.S167S|NAT9_ENST00000580216.1_5'Flank|NAT9_ENST00000582870.1_Silent_p.S171S|NAT9_ENST00000578822.1_Silent_p.S172S|NAT9_ENST00000583757.1_Intron|NAT9_ENST00000583476.1_3'UTR|NAT9_ENST00000581136.1_Silent_p.S162S|NAT9_ENST00000580301.1_Silent_p.S166S|NAT9_ENST00000582524.1_Intron	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	167	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						GAAAAACACTGCTCGTAGCCA	0.557																																						uc002jlq.2		NaN																	0					0						c.(499-501)AGC>AGT		N-acetyltransferase 9							83.0	80.0	81.0					17																	72767986		2203	4300	6503	SO:0001819	synonymous_variant	26151					protein complex	N-acetyltransferase activity	g.chr17:72767986G>A	AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"""N-acetyltransferase 9"""			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.501C>T	17.37:g.72767986G>A						NAT9_uc002jlr.2_Silent_p.S166S	p.S167S	NM_015654	NP_056469	Q9BTE0	NAT9_HUMAN			7	575	-			167			N-acetyltransferase.		B2R7F0|Q9BTD0|Q9Y3T3	Silent	SNP	ENST00000357814.3	37	c.501C>T	CCDS11706.1																																																																																				0.557	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1		NM_015654		89	137	0	0	0	0.01441	0	89	137		
FADS6	283985	broad.mit.edu	37	17	72888659	72888659	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:72888659G>A	ENST00000310226.6	-	2	362	c.348C>T	c.(346-348)ttC>ttT	p.F116F		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	122					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)	p.F121F(1)|p.F116F(1)		endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					CCTCCACAAAGAAAAGCAGCC	0.597																																						uc002jmd.1		NaN																	2	Substitution - coding silent(2)		lung(2)		0						c.(346-348)TTC>TTT		fatty acid desaturase domain family, member 6							47.0	51.0	50.0					17																	72888659		2137	4246	6383	SO:0001819	synonymous_variant	283985				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	g.chr17:72888659G>A	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.348C>T	17.37:g.72888659G>A							p.F116F	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN			2	360	-	all_lung(278;0.172)|Lung NSC(278;0.207)		122			Helical; (Potential).		Q17RQ7|Q6XYE1	Silent	SNP	ENST00000310226.6	37	c.348C>T	CCDS54163.1																																																																																				0.597	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1				39	52	0	0	0	0.00874	0	39	52		
TNRC6C	57690	broad.mit.edu	37	17	76047083	76047083	+	Missense_Mutation	SNP	C	C	T	rs201217429		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:76047083C>T	ENST00000588061.1	+	5	2667	c.1940C>T	c.(1939-1941)aCa>aTa	p.T647I	TNRC6C_ENST00000335749.4_Missense_Mutation_p.T647I|TNRC6C_ENST00000541771.1_Missense_Mutation_p.T647I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.T647I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.T647I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.T647I			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	647	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCACAAATACAAAGGCCAAT	0.502																																						uc002jud.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1939-1941)ACA>ATA		trinucleotide repeat containing 6C isoform 2							38.0	40.0	40.0					17																	76047083		1934	4128	6062	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76047083C>T	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1940C>T	17.37:g.76047083C>T	ENSP00000468647:p.Thr647Ile					TNRC6C_uc002juf.2_Missense_Mutation_p.T647I|TNRC6C_uc002jue.2_Missense_Mutation_p.T647I	p.T647I	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		4	2540	+			647			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.1940C>T	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	9.735	1.163352	0.21538	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	6.08	6.08	0.98989	.	0.578346	0.20641	N	0.088402	T	0.16171	0.0389	L	0.33485	1.01	0.09310	N	1	B;B;B	0.28552	0.21;0.01;0.215	B;B;B	0.29267	0.1;0.019;0.031	T	0.15263	-1.0443	10	0.30854	T	0.27	-0.5967	16.3498	0.83199	0.0:0.8332:0.1668:0.0	.	647;647;647	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	I	647	ENSP00000336783:T647I;ENSP00000301624:T647I;ENSP00000440310:T647I;ENSP00000442421:T647I	ENSP00000301624:T647I	T	+	2	0	TNRC6C	73558678	0.010000	0.17322	0.034000	0.17996	0.760000	0.43138	1.308000	0.33528	2.894000	0.99253	0.655000	0.94253	ACA		0.502	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1		NM_018996		29	36	0	0	0	0.00632	0	29	36		
TBC1D16	125058	broad.mit.edu	37	17	77922741	77922741	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:77922741C>T	ENST00000310924.2	-	8	1586	c.1471G>A	c.(1471-1473)Gac>Aac	p.D491N	TBC1D16_ENST00000576768.1_Missense_Mutation_p.D116N|TBC1D16_ENST00000570373.1_Missense_Mutation_p.D130N|TBC1D16_ENST00000340848.7_Missense_Mutation_p.D129N|TBC1D16_ENST00000572862.1_Missense_Mutation_p.D129N	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	491	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CGGACCACGTCTTTGTCCACA	0.602																																					Ovarian(14;397 562 4850 31922 49378)	uc002jxj.2		NaN																	0					0						c.(1471-1473)GAC>AAC		TBC1 domain family, member 16							247.0	193.0	211.0					17																	77922741		2203	4300	6503	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77922741C>T	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1471G>A	17.37:g.77922741C>T	ENSP00000309794:p.Asp491Asn					TBC1D16_uc002jxh.2_Missense_Mutation_p.D129N|TBC1D16_uc002jxi.2_Missense_Mutation_p.D116N|TBC1D16_uc002jxk.1_Missense_Mutation_p.D129N	p.D491N	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		8	1587	-	all_neural(118;0.167)		491			Rab-GAP TBC.		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.1471G>A	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	C	35	5.594547	0.96602	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.47869	0.83;0.83	5.18	5.18	0.71444	Rab-GAP/TBC domain (4);	0.203730	0.49305	D	0.000145	T	0.81683	0.4874	H	0.98446	4.235	0.80722	D	1	D;D;D;D	0.63046	0.992;0.975;0.975;0.975	D;D;D;D	0.72982	0.979;0.968;0.968;0.969	D	0.89383	0.3683	10	0.87932	D	0	-33.6485	18.692	0.91586	0.0:1.0:0.0:0.0	.	151;491;491;129	Q96DH7;Q8TBP0;B9A6L7;Q8N3Z4	.;TBC16_HUMAN;.;.	N	129;491	ENSP00000341517:D129N;ENSP00000309794:D491N	ENSP00000309794:D491N	D	-	1	0	TBC1D16	75537336	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.370000	0.79589	2.392000	0.81423	0.655000	0.94253	GAC		0.602	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1		NM_019020		208	331	0	0	0	0.01441	0	208	331		
CCDC40	55036	broad.mit.edu	37	17	78058702	78058702	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:78058702C>G	ENST00000397545.4	+	13	2177	c.2150C>G	c.(2149-2151)tCc>tGc	p.S717C	CCDC40_ENST00000374877.3_Missense_Mutation_p.S717C	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	717					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGCGAGATCTCCCGGCGCACG	0.602																																						uc010dht.2		NaN																	0				ovary(3)	3						c.(2149-2151)TCC>TGC		coiled-coil domain containing 40							60.0	64.0	63.0					17																	78058702		2114	4231	6345	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78058702C>G	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2150C>G	17.37:g.78058702C>G	ENSP00000380679:p.Ser717Cys					CCDC40_uc002jxm.3_Missense_Mutation_p.S500C|CCDC40_uc002jxn.3_Missense_Mutation_p.S113C	p.S717C	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		13	2177	+	all_neural(118;0.167)		717			Potential.		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.2150C>G	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330201	0.60743	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.50548	0.74;0.76	5.06	4.07	0.47477	.	.	.	.	.	T	0.63640	0.2528	M	0.62723	1.935	0.18873	N	0.999984	D;D	0.76494	0.999;0.997	D;P	0.64042	0.921;0.843	T	0.56637	-0.7946	9	0.62326	D	0.03	-19.1564	13.8322	0.63389	0.0:0.925:0.0:0.075	.	717;500	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	C	717	ENSP00000364011:S717C;ENSP00000380679:S717C	ENSP00000364011:S717C	S	+	2	0	CCDC40	75673297	0.030000	0.19436	0.963000	0.40424	0.952000	0.60782	1.960000	0.40422	1.088000	0.41272	0.655000	0.94253	TCC		0.602	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2		XM_371082		63	106	0	0	0	0.01441	0	63	106		
CCDC40	55036	broad.mit.edu	37	17	78059829	78059829	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:78059829G>C	ENST00000397545.4	+	14	2290	c.2263G>C	c.(2263-2265)Gaa>Caa	p.E755Q	CCDC40_ENST00000374877.3_Missense_Mutation_p.E755Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	755					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCTGGAGCTTGAAATCAAAAG	0.562																																						uc010dht.2		NaN																	0				ovary(3)	3						c.(2263-2265)GAA>CAA		coiled-coil domain containing 40							58.0	62.0	61.0					17																	78059829		1925	4120	6045	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78059829G>C	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2263G>C	17.37:g.78059829G>C	ENSP00000380679:p.Glu755Gln					CCDC40_uc002jxm.3_Missense_Mutation_p.E538Q|CCDC40_uc002jxn.3_Missense_Mutation_p.E151Q	p.E755Q	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		14	2290	+	all_neural(118;0.167)		755			Potential.		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.2263G>C	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	9.822	1.185958	0.21870	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.45276	0.9;0.95	4.73	4.73	0.59995	.	.	.	.	.	T	0.30823	0.0777	L	0.31752	0.955	0.34165	D	0.669162	B;B	0.24533	0.064;0.105	B;B	0.20767	0.023;0.031	T	0.35798	-0.9774	9	0.21014	T	0.42	-34.1249	13.4624	0.61235	0.0:0.1573:0.8427:0.0	.	755;538	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	Q	755	ENSP00000364011:E755Q;ENSP00000380679:E755Q	ENSP00000364011:E755Q	E	+	1	0	CCDC40	75674424	1.000000	0.71417	0.970000	0.41538	0.551000	0.35334	2.835000	0.48175	2.185000	0.69588	0.514000	0.50259	GAA		0.562	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2		XM_371082		123	197	0	0	0	0.01441	0	123	197		
EMILIN2	84034	broad.mit.edu	37	18	2892205	2892205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:2892205G>A	ENST00000254528.3	+	4	2239	c.2080G>A	c.(2080-2082)Ggg>Agg	p.G694R		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	694					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ATGCACGCAGGGGGTCCAGAG	0.562																																						uc002kln.2		NaN																	0				skin(2)|ovary(1)	3						c.(2080-2082)GGG>AGG		elastin microfibril interfacer 2 precursor							104.0	110.0	108.0					18																	2892205		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892205G>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2080G>A	18.37:g.2892205G>A	ENSP00000254528:p.Gly694Arg						p.G694R	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2239	+			694					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.2080G>A	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091283	0.36855	.	.	ENSG00000132205	ENST00000254528	T	0.32023	1.47	5.48	3.68	0.42216	.	0.536026	0.19179	N	0.120733	T	0.47857	0.1468	M	0.76002	2.32	0.41765	D	0.989732	P	0.49358	0.923	P	0.54629	0.757	T	0.48833	-0.9000	10	0.62326	D	0.03	-27.7929	12.1258	0.53917	0.1409:0.0:0.8591:0.0	.	694	Q9BXX0	EMIL2_HUMAN	R	694	ENSP00000254528:G694R	ENSP00000254528:G694R	G	+	1	0	EMILIN2	2882205	1.000000	0.71417	0.009000	0.14445	0.006000	0.05464	5.780000	0.68956	0.664000	0.31047	0.563000	0.77884	GGG		0.562	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2		NM_032048		112	141	0	0	0	0.01441	0	112	141		
ROCK1	6093	broad.mit.edu	37	18	18622100	18622100	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:18622100G>C	ENST00000399799.2	-	8	1857	c.917C>G	c.(916-918)tCa>tGa	p.S306*		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|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 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)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGCTTCTTTTGATATGTCATT	0.333																																						uc002kte.2		NaN																	0				lung(2)|breast(2)|central_nervous_system(1)	5						c.(916-918)TCA>TGA		Rho-associated, coiled-coil containing protein							82.0	84.0	83.0					18																	18622100		2202	4293	6495	SO:0001587	stop_gained	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18622100G>C		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.917C>G	18.37:g.18622100G>C	ENSP00000382697:p.Ser306*						p.S306*	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			8	1858	-	Melanoma(1;0.165)		306			Protein kinase.		B0YJ91|Q2KHM4|Q59GZ4	Nonsense_Mutation	SNP	ENST00000399799.2	37	c.917C>G	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	46	12.788852	0.99696	.	.	ENSG00000067900	ENST00000399799	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2789	0.94044	0.0:0.0:1.0:0.0	.	.	.	.	X	306	.	ENSP00000382697:S306X	S	-	2	0	ROCK1	16876098	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.774000	0.95407	0.655000	0.94253	TCA		0.333	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2		NM_005406		22	59	0	0	0	0.016522	0	22	59		
OSBPL1A	114876	broad.mit.edu	37	18	21746618	21746618	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:21746618C>G	ENST00000319481.3	-	26	2790	c.2584G>C	c.(2584-2586)Gac>Cac	p.D862H	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.D480H|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.D349H	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	862					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTCTCCATGTCTTTGTCTACT	0.398																																						uc002kve.2		NaN																	0				ovary(4)	4						c.(2584-2586)GAC>CAC		oxysterol-binding protein-like 1A isoform B							181.0	163.0	169.0					18																	21746618		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21746618C>G	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2584G>C	18.37:g.21746618C>G	ENSP00000320291:p.Asp862His					OSBPL1A_uc002kvd.2_Missense_Mutation_p.D349H|OSBPL1A_uc010xbc.1_Missense_Mutation_p.D480H	p.D862H	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN			26	2758	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		862					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.2584G>C	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177358	0.38413	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.30448	1.53;1.53;1.53	5.68	5.68	0.88126	.	0.231855	0.50627	D	0.000109	T	0.38825	0.1055	L	0.40543	1.245	0.80722	D	1	B	0.30793	0.295	B	0.42030	0.373	T	0.10870	-1.0611	10	0.44086	T	0.13	-13.0586	20.1412	0.98058	0.0:1.0:0.0:0.0	.	862	Q9BXW6	OSBL1_HUMAN	H	862;349;480	ENSP00000320291:D862H;ENSP00000382372:D349H;ENSP00000349545:D480H	ENSP00000320291:D862H	D	-	1	0	OSBPL1A	20000616	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.815000	0.62634	2.838000	0.97847	0.585000	0.79938	GAC		0.398	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1		NM_080597		74	62	0	0	0	0.01441	0	74	62		
ST8SIA3	51046	broad.mit.edu	37	18	55024415	55024415	+	Missense_Mutation	SNP	G	G	A	rs532770217	byFrequency	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:55024415G>A	ENST00000324000.3	+	3	2608	c.574G>A	c.(574-576)Gcc>Acc	p.A192T		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	192					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TTGCAATTTCGCCCCTACGGA	0.403													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18672	0.0		0.0	False		,,,				2504	0.001					uc002lgn.2		NaN																	0				breast(1)|skin(1)	2						c.(574-576)GCC>ACC		ST8 alpha-N-acetyl-neuraminide							77.0	81.0	80.0					18																	55024415		2203	4300	6503	SO:0001583	missense	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024415G>A	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.574G>A	18.37:g.55024415G>A	ENSP00000320431:p.Ala192Thr						p.A192T	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	931	+			192			Lumenal (Potential).		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.574G>A	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.903976	0.92035	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.53206	0.63	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.77718	0.4172	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81435	-0.0934	10	0.62326	D	0.03	-0.0087	20.017	0.97481	0.0:0.0:1.0:0.0	.	192	O43173	SIA8C_HUMAN	T	299;192	ENSP00000320431:A192T	ENSP00000320431:A192T	A	+	1	0	ST8SIA3	53175413	1.000000	0.71417	0.992000	0.48379	1.000000	0.99986	9.448000	0.97600	2.832000	0.97577	0.655000	0.94253	GCC		0.403	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1		NM_015879		71	56	0	0	0	0.01441	0	71	56		
RBFA	79863	broad.mit.edu	37	18	77794621	77794621	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:77794621G>C	ENST00000306735.5	+	1	264	c.126G>C	c.(124-126)aaG>aaC	p.K42N	RBFA_ENST00000586847.1_3'UTR|TXNL4A_ENST00000585474.1_5'Flank|TXNL4A_ENST00000589926.1_5'Flank|TXNL4A_ENST00000592957.1_5'Flank|RP11-795F19.5_ENST00000569722.1_Missense_Mutation_p.K42N|RBFA_ENST00000262197.7_Missense_Mutation_p.K42N	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	42					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TCTCCTGCAAGAACTGGCTCA	0.657																																						uc002lns.2		NaN																	0					0						c.(124-126)AAG>AAC		hypothetical protein LOC79863 precursor							32.0	37.0	35.0					18																	77794621		2202	4300	6502	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77794621G>C	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.126G>C	18.37:g.77794621G>C	ENSP00000305696:p.Lys42Asn					TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Missense_Mutation_p.K42N|C18orf22_uc010dri.1_RNA	p.K42N	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)	1	264	+		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)	42					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.126G>C	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	g	15.48	2.846749	0.51164	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	T;T	0.43294	0.95;0.95	2.88	2.88	0.33553	.	0.150684	0.30419	U	0.009664	T	0.50514	0.1620	L	0.47190	1.495	0.33777	D	0.623807	D;D	0.76494	0.99;0.999	P;D	0.63597	0.844;0.916	T	0.63690	-0.6580	10	0.72032	D	0.01	-4.5948	9.3569	0.38173	0.0:0.0:1.0:0.0	.	42;42	Q8N0V3-2;Q8N0V3	.;RBFA_HUMAN	N	42	ENSP00000262197:K42N;ENSP00000305696:K42N	ENSP00000262197:K42N	K	+	3	2	RBFA	75895609	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	2.164000	0.42387	1.614000	0.50241	0.556000	0.70494	AAG		0.657	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2		NM_024805		13	198	0	0	0	0.013537	0	13	198		
DOT1L	84444	broad.mit.edu	37	19	2222099	2222099	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:2222099C>T	ENST00000398665.3	+	24	2967	c.2931C>T	c.(2929-2931)acC>acT	p.T977T		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	977					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)		TTTTTGCCACCGTGGGGTCCC	0.701																																						uc002lvb.3		NaN																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(2929-2931)ACC>ACT		DOT1-like, histone H3 methyltransferase							33.0	44.0	40.0					19																	2222099		2044	4193	6237	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2222099C>T	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.2931C>T	19.37:g.2222099C>T						DOT1L_uc002lvc.1_Silent_p.T271T|DOT1L_uc002lve.1_3'UTR	p.T977T	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)	24	2967	+		Hepatocellular(1079;0.137)	977					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.2931C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	c	0.187	-1.056636	0.01965	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.43	-6.83	0.01693	.	.	.	.	.	T	0.14527	0.0351	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.28618	-1.0038	4	.	.	.	-10.0519	0.4341	0.00476	0.2356:0.1617:0.2736:0.3292	.	.	.	.	L	764	.	.	P	+	2	0	DOT1L	2173099	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-2.507000	0.00961	-0.562000	0.06086	-1.413000	0.01118	CCG		0.701	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		97	113	0	0	0	0.01441	0	97	113		
PLIN3	10226	broad.mit.edu	37	19	4859618	4859618	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:4859618T>C	ENST00000221957.4	-	4	508	c.332A>G	c.(331-333)cAg>cGg	p.Q111R	PLIN3_ENST00000585479.1_Missense_Mutation_p.Q111R|PLIN3_ENST00000592528.1_Missense_Mutation_p.Q111R	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	111				ILQ -> MLR (in Ref. 2; AAD11622). {ECO:0000305}.	vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CGTGGGCTGCTGCAGGATGGG	0.572																																						uc002mbj.2		NaN																	0					0						c.(331-333)CAG>CGG		mannose 6 phosphate receptor binding protein 1	Galsulfase(DB01279)|Idursulfase(DB01271)						102.0	89.0	94.0					19																	4859618		2203	4300	6503	SO:0001583	missense	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4859618T>C	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.332A>G	19.37:g.4859618T>C	ENSP00000221957:p.Gln111Arg					PLIN3_uc002mbk.2_Missense_Mutation_p.Q111R|PLIN3_uc002mbl.3_Missense_Mutation_p.Q111R	p.Q111R	NM_005817	NP_005808	O60664	PLIN3_HUMAN			4	509	-			111	ILQ -> MLR (in Ref. 2; AAD11622).				A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	c.332A>G	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	T	19.39	3.818786	0.71028	.	.	ENSG00000105355	ENST00000221957	T	0.07021	3.23	4.2	4.2	0.49525	.	0.143676	0.48286	U	0.000196	T	0.25344	0.0616	M	0.74389	2.26	0.32585	N	0.527934	D;D	0.71674	0.997;0.998	D;D	0.68621	0.931;0.959	T	0.27297	-1.0078	10	0.33141	T	0.24	-24.3011	13.0618	0.59012	0.0:0.0:0.0:1.0	.	111;111	O60664-3;O60664	.;PLIN3_HUMAN	R	111	ENSP00000221957:Q111R	ENSP00000221957:Q111R	Q	-	2	0	PLIN3	4810618	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	4.751000	0.62169	1.753000	0.51906	0.379000	0.24179	CAG		0.572	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1		NM_005817		76	74	0	0	0	0.01441	0	76	74		
C3	718	broad.mit.edu	37	19	6686860	6686860	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:6686860C>T	ENST00000245907.6	-	28	3635	c.3543G>A	c.(3541-3543)atG>atA	p.M1181I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1181					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TCTGTAGGTTCATGTAGTTGG	0.517																																						uc002mfm.2		NaN																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(3541-3543)ATG>ATA		complement component 3 precursor							150.0	129.0	136.0					19																	6686860		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6686860C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3543G>A	19.37:g.6686860C>T	ENSP00000245907:p.Met1181Ile					C3_uc002mfl.2_5'UTR	p.M1181I	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	28	3605	-			1181					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.3543G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959328	0.34565	.	.	ENSG00000125730	ENST00000245907	T	0.36699	1.24	6.06	-1.15	0.09709	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	1.353630	0.04230	N	0.335041	T	0.22936	0.0554	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20371	-1.0277	10	0.42905	T	0.14	.	0.4141	0.00445	0.2578:0.2634:0.2516:0.2272	.	1181	P01024	CO3_HUMAN	I	1181	ENSP00000245907:M1181I	ENSP00000245907:M1181I	M	-	3	0	C3	6637860	0.000000	0.05858	0.000000	0.03702	0.271000	0.26615	-0.779000	0.04659	-0.080000	0.12685	0.655000	0.94253	ATG		0.517	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2		NM_000064		114	107	0	0	0	0.01441	0	114	107		
DNASE2	1777	broad.mit.edu	37	19	12991823	12991823	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:12991823C>T	ENST00000222219.3	-	2	322	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Missense_Mutation_p.R77Q	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	77					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						CTGCAGGCTTCGGCCCACGGC	0.677																																						uc002mvn.1		NaN																	0					0						c.(229-231)CGA>CAA	Direct_reversal_of_damage	deoxyribonuclease II, lysosomal precursor							25.0	27.0	27.0					19																	12991823		2203	4300	6503	SO:0001583	missense	1777				apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding	g.chr19:12991823C>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		ENST00000222219.3:c.230G>A	19.37:g.12991823C>T	ENSP00000222219:p.Arg77Gln					DNASE2_uc010xmr.1_Missense_Mutation_p.R77Q	p.R77Q	NM_001375	NP_001366	O00115	DNS2A_HUMAN			2	376	-			77					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.230G>A	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313928	0.60414	.	.	ENSG00000105612	ENST00000222219;ENST00000538460	T;T	0.14391	2.51;2.51	5.37	1.87	0.25490	.	0.279831	0.34067	N	0.004298	T	0.08358	0.0208	L	0.41415	1.275	0.38117	D	0.937738	P;B	0.51057	0.941;0.386	B;B	0.38842	0.283;0.103	T	0.30534	-0.9975	10	0.37606	T	0.19	.	3.839	0.08906	0.288:0.4905:0.1402:0.0813	.	77;77	B7Z4K6;O00115	.;DNS2A_HUMAN	Q	77	ENSP00000222219:R77Q;ENSP00000445988:R77Q	ENSP00000222219:R77Q	R	-	2	0	DNASE2	12852823	0.993000	0.37304	1.000000	0.80357	0.339000	0.28857	0.720000	0.25896	0.582000	0.29556	0.561000	0.74099	CGA		0.677	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1				72	73	0	0	0	0.01441	0	72	73		
CPAMD8	27151	broad.mit.edu	37	19	17039045	17039045	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:17039045C>G	ENST00000443236.1	-	25	3317		c.e25-1			NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8							extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CATGGCCAACCTGGAAAAAGA	0.597																																						uc002nfb.2		NaN																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.e25-1		C3 and PZP-like, alpha-2-macroglobulin domain							23.0	25.0	25.0					19																	17039045		2016	4174	6190	SO:0001630	splice_region_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17039045C>G	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3286-1G>C	19.37:g.17039045C>G							p.V1096_splice	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			25	3318	-								Q8NC09|Q9ULD7	Splice_Site	SNP	ENST00000443236.1	37	c.3286_splice	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637006	0.47049	.	.	ENSG00000160111	ENST00000443236;ENST00000291440	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2237	0.65845	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPAMD8	16900045	1.000000	0.71417	0.978000	0.43139	0.535000	0.34838	6.332000	0.72934	1.300000	0.44818	0.655000	0.94253	.		0.597	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2		NM_015692	Intron	15	61	0	0	0	0.00245	0	15	61		
HAUS8	93323	broad.mit.edu	37	19	17166705	17166705	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:17166705G>A	ENST00000253669.5	-	9	943	c.753C>T	c.(751-753)tcC>tcT	p.S251S	CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000593360.1_Silent_p.S190S|HAUS8_ENST00000448593.2_Silent_p.S250S			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	251					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CCAGGTGGATGGACCTCACGG	0.642																																						uc002nfe.2		NaN																	0					0						c.(751-753)TCC>TCT		sarcoma antigen NY-SAR-48 isoform a							123.0	96.0	105.0					19																	17166705		2203	4300	6503	SO:0001819	synonymous_variant	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17166705G>A	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.753C>T	19.37:g.17166705G>A						HAUS8_uc002nff.2_Silent_p.S250S|HAUS8_uc002nfg.1_Silent_p.S190S|HAUS8_uc002nfh.1_Silent_p.S251S	p.S251S	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN			9	864	-			251					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Silent	SNP	ENST00000253669.5	37	c.753C>T	CCDS32948.1																																																																																				0.642	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1		NM_001011699		28	88	0	0	0	0.008361	0	28	88		
B3GNT3	10331	broad.mit.edu	37	19	17922410	17922410	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:17922410T>G	ENST00000318683.6	+	3	745	c.598T>G	c.(598-600)Tgc>Ggc	p.C200G	B3GNT3_ENST00000595387.1_Missense_Mutation_p.C200G	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	200					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GGAGACAAGGTGCGCCAACGC	0.572																																						uc002nhk.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(598-600)TGC>GGC		UDP-GlcNAc:betaGal							75.0	52.0	60.0					19																	17922410		2203	4300	6503	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922410T>G	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.598T>G	19.37:g.17922410T>G	ENSP00000321874:p.Cys200Gly					B3GNT3_uc002nhl.1_Missense_Mutation_p.C200G|B3GNT3_uc010ebd.1_Missense_Mutation_p.C200G|B3GNT3_uc010ebe.1_Missense_Mutation_p.C200G	p.C200G	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			3	683	+			200			Lumenal (Potential).		B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.598T>G	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650914	0.47362	.	.	ENSG00000179913	ENST00000318683	T	0.45668	0.89	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.75729	0.3889	H	0.97587	4.035	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.84241	0.0472	10	0.72032	D	0.01	.	13.1909	0.59711	0.0:0.0:0.0:1.0	.	200	Q9Y2A9	B3GN3_HUMAN	G	200	ENSP00000321874:C200G	ENSP00000321874:C200G	C	+	1	0	B3GNT3	17783410	1.000000	0.71417	0.177000	0.23020	0.023000	0.10783	7.824000	0.86668	2.018000	0.59344	0.454000	0.30748	TGC		0.572	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1		NM_014256		15	122	0	0	0	0.00632	0	15	122		
JAK3	3718	broad.mit.edu	37	19	17953857	17953857	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:17953857C>T	ENST00000527670.1	-	4	574	c.545G>A	c.(544-546)gGa>gAa	p.G182E	JAK3_ENST00000458235.1_Missense_Mutation_p.G182E|JAK3_ENST00000534444.1_Missense_Mutation_p.G182E|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	182	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CAGCAGCTCTCCCGGCCGCTG	0.687		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		0				haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(544-546)GGA>GAA		Janus kinase 3							23.0	24.0	24.0					19																	17953857		2173	4240	6413	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17953857C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.545G>A	19.37:g.17953857C>T	ENSP00000432511:p.Gly182Glu					JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.G182E|JAK3_uc010xpx.1_Missense_Mutation_p.G182E|JAK3_uc010xpy.1_3'UTR	p.G182E	NM_000215	NP_000206	P52333	JAK3_HUMAN			5	645	-			182			FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.545G>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	2.568	-0.300342	0.05532	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.62364	0.03;0.03;0.03	4.92	-7.16	0.01516	Band 4.1 domain (1);FERM domain (1);	1.373530	0.04606	N	0.399311	T	0.26593	0.0650	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.39014	-0.9634	10	0.02654	T	1	-0.4158	7.2015	0.25883	0.0:0.2539:0.4262:0.3198	.	182;182;182	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	E	182	ENSP00000391676:G182E;ENSP00000432511:G182E;ENSP00000436421:G182E	ENSP00000413248:G182E	G	-	2	0	JAK3	17814857	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.064000	0.03461	-1.458000	0.01916	-0.494000	0.04653	GGA		0.687	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1		NM_000215		49	79	0	0	0	0.01441	0	49	79		
ISYNA1	51477	broad.mit.edu	37	19	18546114	18546114	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:18546114C>A	ENST00000338128.8	-	10	1651	c.1434G>T	c.(1432-1434)gcG>gcT	p.A478A	ISYNA1_ENST00000457269.4_Silent_p.A424A|ISYNA1_ENST00000317018.6_Silent_p.A276A|ISYNA1_ENST00000545187.1_Silent_p.A328A|ISYNA1_ENST00000578963.1_Silent_p.A350A	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	478					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GGCGGAAAAGCGCATTGACCA	0.662																																						uc002njd.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(1432-1434)GCG>GCT		inositol-3-phosphate synthase 1							45.0	50.0	49.0					19																	18546114		2202	4300	6502	SO:0001819	synonymous_variant	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18546114C>A		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.1434G>T	19.37:g.18546114C>A						ISYNA1_uc002nja.1_Silent_p.A350A|ISYNA1_uc002njb.1_Silent_p.A396A|ISYNA1_uc002njc.1_Silent_p.A328A|ISYNA1_uc010xqh.1_Silent_p.A276A|ISYNA1_uc002nje.1_Silent_p.A424A|ISYNA1_uc002njf.1_Silent_p.A328A	p.A478A	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN			10	1484	-			478					B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Silent	SNP	ENST00000338128.8	37	c.1434G>T	CCDS12379.1																																																																																				0.662	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2		NM_016368		27	387	1	0	7.01153e-11	0.007291	7.31708e-11	27	387		
ZNF90	7643	broad.mit.edu	37	19	20229706	20229706	+	Missense_Mutation	SNP	G	G	A	rs368871975	byFrequency	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:20229706G>A	ENST00000418063.2	+	4	1455	c.1343G>A	c.(1342-1344)aGt>aAt	p.S448N	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	448					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						ATAATTCATAGTGGAGAGAAA	0.393																																						uc002nor.2		NaN																	0				ovary(1)|skin(1)	2						c.(1342-1344)AGT>AAT		zinc finger protein 90							48.0	45.0	46.0					19																	20229706		692	1591	2283	SO:0001583	missense	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20229706G>A	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1343G>A	19.37:g.20229706G>A	ENSP00000410466:p.Ser448Asn					ZNF90_uc002nos.1_Intron|ZNF90_uc002not.1_Intron	p.S448N	NM_007138	NP_009069	Q03938	ZNF90_HUMAN			4	1482	+			448					B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.1343G>A	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	g	5.078	0.199995	0.09652	.	.	ENSG00000213988	ENST00000418063	T	0.19394	2.15	0.793	-1.59	0.08453	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15176	0.0366	L	0.46157	1.445	0.21740	N	0.99957	B	0.09022	0.002	B	0.16722	0.016	T	0.29822	-0.9999	8	.	.	.	.	4.244	0.10663	0.0:0.563:0.2349:0.2021	.	448	Q03938	ZNF90_HUMAN	N	448	ENSP00000410466:S448N	.	S	+	2	0	ZNF90	20090706	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.537000	0.06128	-2.508000	0.00506	-2.493000	0.00193	AGT		0.393	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1		NM_007138		5	34	0	0	0	0.014758	0	5	34		
ZNF99	7652	broad.mit.edu	37	19	22940978	22940978	+	Missense_Mutation	SNP	G	G	A	rs377267804		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:22940978G>A	ENST00000596209.1	-	4	1823	c.1733C>T	c.(1732-1734)tCa>tTa	p.S578L	ZNF99_ENST00000397104.3_Missense_Mutation_p.S487L	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	578					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(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTAAGATGTGAAGATTGCTT	0.358																																						uc010xrh.1		NaN																	0				ovary(1)|skin(1)	2						c.(1459-1461)TCA>TTA		zinc finger protein 99							52.0	55.0	54.0					19																	22940978		2089	4234	6323	SO:0001583	missense	7652							g.chr19:22940978G>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1733C>T	19.37:g.22940978G>A	ENSP00000472969:p.Ser578Leu						p.S487L	NM_001080409	NP_001073878					5	1460	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1460C>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	9.742	1.165042	0.21538	.	.	ENSG00000213973	ENST00000397104	T	0.07444	3.19	1.44	0.276	0.15663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18299	0.0439	M	0.86573	2.825	0.09310	N	1	D	0.58268	0.982	P	0.50162	0.633	T	0.08700	-1.0709	9	0.52906	T	0.07	.	6.3562	0.21402	0.1811:0.0:0.8189:0.0	.	487	A8MXY4	ZNF99_HUMAN	L	487	ENSP00000380293:S487L	ENSP00000380293:S487L	S	-	2	0	ZNF99	22732818	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	-0.013000	0.12678	-0.050000	0.13356	0.194000	0.17425	TCA		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1		XM_065124		15	74	0	0	0	0.00245	0	15	74		
ZNF99	7652	broad.mit.edu	37	19	22941120	22941120	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:22941120G>A	ENST00000596209.1	-	4	1681	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	ZNF99_ENST00000397104.3_Missense_Mutation_p.H440Y	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	531					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(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCCAGTATGAATTATCTTA	0.343																																						uc010xrh.1		NaN																	0				ovary(1)|skin(1)	2						c.(1318-1320)CAT>TAT		zinc finger protein 99							34.0	36.0	35.0					19																	22941120		1969	4159	6128	SO:0001583	missense	7652							g.chr19:22941120G>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1591C>T	19.37:g.22941120G>A	ENSP00000472969:p.His531Tyr						p.H440Y	NM_001080409	NP_001073878					5	1318	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1318C>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	12.78	2.041018	0.35989	.	.	ENSG00000213973	ENST00000397104	T	0.67523	-0.27	1.29	1.29	0.21616	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82646	0.5082	M	0.94101	3.495	0.33657	D	0.609246	D	0.69078	0.997	D	0.64595	0.927	D	0.86348	0.1709	9	0.87932	D	0	.	9.5079	0.39058	0.0:0.0:1.0:0.0	.	440	A8MXY4	ZNF99_HUMAN	Y	440	ENSP00000380293:H440Y	ENSP00000380293:H440Y	H	-	1	0	ZNF99	22732960	1.000000	0.71417	0.042000	0.18584	0.047000	0.14425	4.687000	0.61708	0.680000	0.31366	0.400000	0.26472	CAT		0.343	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1		XM_065124		38	44	0	0	0	0.007835	0	38	44		
CATSPERG	57828	broad.mit.edu	37	19	38860868	38860868	+	Silent	SNP	C	C	T	rs373710337		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:38860868C>T	ENST00000409235.3	+	28	3298	c.3183C>T	c.(3181-3183)ctC>ctT	p.L1061L	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.L1021L	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1061					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GGCTGCCACTCAGTCCCAAGC	0.602																																						uc002oih.3		NaN																	0				ovary(1)|skin(1)	2						c.(3181-3183)CTC>CTT		cation channel, sperm-associated, gamma		C		1,4405	2.1+/-5.4	0,1,2202	52.0	45.0	47.0		3183	4.8	0.9	19		47	0,8600		0,0,4300	no	coding-synonymous	CATSPERG	NM_021185.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1061/1160	38860868	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38860868C>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3183C>T	19.37:g.38860868C>T						CATSPERG_uc002oig.3_Silent_p.L1021L|CATSPERG_uc002oif.3_Silent_p.L701L|CATSPERG_uc010efw.2_RNA	p.L1061L	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			28	3270	+			1061			Extracellular (Potential).		A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	c.3183C>T	CCDS12514.2																																																																																				0.602	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1		NM_021185		33	89	0	0	0	0.013726	0	33	89		
PSG1	5669	broad.mit.edu	37	19	43376148	43376148	+	Silent	SNP	C	C	T	rs374878866	byFrequency	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:43376148C>T	ENST00000436291.2	-	3	596	c.480G>A	c.(478-480)gaG>gaA	p.E160E	PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000312439.6_Silent_p.E160E|PSG1_ENST00000244296.2_Silent_p.E160E|PSG1_ENST00000595356.1_Silent_p.E160E	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	160	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CCTCCATGGTCTCCCTGGGAT	0.537													.|||	3	0.000599042	0.0	0.0	5008	,	,		18937	0.0		0.0	False		,,,				2504	0.0031					uc002ovb.2		NaN																	0				ovary(2)	2						c.(478-480)GAG>GAA		pregnancy specific beta-1-glycoprotein 1		C	,,	0,4402		0,0,2201	194.0	182.0	186.0		480,480,480	1.5	0.0	19		186	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	PSG1	NM_001184825.1,NM_001184826.1,NM_006905.2	,,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,,	160/420,160/418,160/427	43376148	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	5669				female pregnancy	extracellular region		g.chr19:43376148C>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.480G>A	19.37:g.43376148C>T						PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Silent_p.E160E|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Silent_p.E160E|PSG1_uc010eio.1_Silent_p.E160E|PSG1_uc002oux.1_Silent_p.E89E|PSG1_uc002ouy.1_Silent_p.E160E|PSG1_uc002ouz.1_Silent_p.E160E|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Silent_p.E160E	p.E160E	NM_006905	NP_008836	P11464	PSG1_HUMAN			3	618	-		Prostate(69;0.00682)	160			Ig-like C2-type 1.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	c.480G>A	CCDS54275.1																																																																																				0.537	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1				61	270	0	0	0	0.01441	0	61	270		
MARK4	57787	broad.mit.edu	37	19	45774817	45774817	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:45774817G>C	ENST00000262891.4	+	8	968	c.637G>C	c.(637-639)Gac>Cac	p.D213H	MARK4_ENST00000300843.4_Missense_Mutation_p.D213H	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATCGAAGCTGGACACGTTCTG	0.597																																						uc002pbb.1		NaN																	0				central_nervous_system(2)|large_intestine(1)	3						c.(637-639)GAC>CAC		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;							90.0	85.0	87.0					19																	45774817		2203	4300	6503	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45774817G>C	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.637G>C	19.37:g.45774817G>C	ENSP00000262891:p.Asp213His					MARK4_uc002paz.1_Missense_Mutation_p.W23C|MARK4_uc002pba.1_Missense_Mutation_p.D213H|MARK4_uc002pbc.1_Missense_Mutation_p.D79H	p.D213H			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	8	642	+		all_neural(266;0.224)|Ovarian(192;0.231)	213			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.637G>C	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466864	0.84425	.	.	ENSG00000007047	ENST00000262893;ENST00000262891;ENST00000300843	T;T	0.65732	-0.17;-0.17	4.37	4.37	0.52481	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	N	0.21097	0.63	0.80722	D	1	D;D;D	0.89917	0.979;1.0;1.0	D;D;D	0.83275	0.959;0.996;0.987	T	0.72225	-0.4355	10	0.87932	D	0	.	14.4482	0.67367	0.0:0.0:1.0:0.0	.	79;213;213	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	H	243;213;213	ENSP00000262891:D213H;ENSP00000300843:D213H	ENSP00000262891:D213H	D	+	1	0	MARK4	50466657	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.596000	0.98267	2.273000	0.75805	0.561000	0.74099	GAC		0.597	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1		NM_031417		68	245	0	0	0	0.01441	0	68	245		
SYMPK	8189	broad.mit.edu	37	19	46338423	46338423	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:46338423G>C	ENST00000245934.7	-	11	1550	c.1306C>G	c.(1306-1308)Ccc>Gcc	p.P436A		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	436					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GACTCCACGGGGGTGTAGATG	0.607																																						uc002pdn.2		NaN																	0				ovary(1)	1						c.(1306-1308)CCC>GCC		symplekin							84.0	77.0	79.0					19																	46338423		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46338423G>C	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1306C>G	19.37:g.46338423G>C	ENSP00000245934:p.Pro436Ala					SYMPK_uc002pdo.1_Missense_Mutation_p.P436A|SYMPK_uc002pdp.1_Missense_Mutation_p.P436A|SYMPK_uc002pdq.1_Missense_Mutation_p.P436A	p.P436A	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	11	1551	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	436					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.1306C>G	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280163	0.80692	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.86	3.8	0.43715	Armadillo-type fold (1);	0.057924	0.64402	D	0.000001	T	0.76140	0.3946	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.986	T	0.78443	-0.2202	9	0.72032	D	0.01	.	12.0222	0.53350	0.0:0.0:0.8261:0.1739	.	451;436	Q4LE61;Q92797	.;SYMPK_HUMAN	A	436	.	ENSP00000245934:P436A	P	-	1	0	SYMPK	51030263	1.000000	0.71417	0.976000	0.42696	0.975000	0.68041	9.365000	0.97139	1.234000	0.43709	0.585000	0.79938	CCC		0.607	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1		NM_004819		99	62	0	0	0	0.01441	0	99	62		
MYPOP	339344	broad.mit.edu	37	19	46393930	46393930	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:46393930C>G	ENST00000322217.5	-	3	1237	c.1151G>C	c.(1150-1152)aGa>aCa	p.R384T		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	384						nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			large_intestine(2)|lung(1)|skin(1)	4						GAAACCTTTTCTCCGCTTGTG	0.642																																						uc002pdt.2		NaN																	0					0						c.(1150-1152)AGA>ACA		Myb protein P42POP							23.0	25.0	24.0					19																	46393930		2076	4201	6277	SO:0001583	missense	339344					nucleus	DNA binding	g.chr19:46393930C>G	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"""p42 Myb-related transcription factor, partner of profilin"""					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.1151G>C	19.37:g.46393930C>G	ENSP00000325402:p.Arg384Thr						p.R384T	NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN			3	1238	-			384			Nuclear localization signal (By similarity).			Missense_Mutation	SNP	ENST00000322217.5	37	c.1151G>C	CCDS33055.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696443	0.68386	.	.	ENSG00000176182	ENST00000322217	T	0.62232	0.04	4.48	4.48	0.54585	.	0.102516	0.40818	N	0.001020	T	0.65365	0.2684	N	0.24115	0.695	0.32126	N	0.587392	D	0.57899	0.981	D	0.67231	0.95	T	0.72727	-0.4206	10	0.87932	D	0	-8.1053	12.7132	0.57102	0.0:1.0:0.0:0.0	.	384	Q86VE0	MYPOP_HUMAN	T	384	ENSP00000325402:R384T	ENSP00000325402:R384T	R	-	2	0	MYPOP	51085770	0.998000	0.40836	1.000000	0.80357	0.971000	0.66376	2.146000	0.42216	2.039000	0.60335	0.650000	0.86243	AGA		0.642	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1		NM_001012643		43	124	0	0	0	0.011902	0	43	124		
PGLYRP1	8993	broad.mit.edu	37	19	46522875	46522875	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:46522875G>A	ENST00000008938.4	-	2	361	c.318C>T	c.(316-318)taC>taT	p.Y106Y	CCDC61_ENST00000601763.1_Intron|MIR769_ENST00000390225.1_RNA	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	106					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CACGGCCCTCGTATACGAGCC	0.587																																						uc002pdx.1		NaN																	0				ovary(2)	2						c.(316-318)TAC>TAT		peptidoglycan recognition protein 1 precursor							57.0	50.0	52.0					19																	46522875		2203	4300	6503	SO:0001819	synonymous_variant	8993				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:46522875G>A	AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"""peptidoglycan recognition protein"""	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.318C>T	19.37:g.46522875G>A							p.Y106Y	NM_005091	NP_005082	O75594	PGRP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	2	362	-		all_neural(266;0.113)|Ovarian(192;0.127)	106					Q4VB36	Silent	SNP	ENST00000008938.4	37	c.318C>T	CCDS12680.1																																																																																				0.587	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461695.1		NM_005091		24	138	0	0	0	0.00632	0	24	138		
PRKD2	25865	broad.mit.edu	37	19	47178369	47178369	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:47178369T>C	ENST00000291281.4	-	17	2570	c.2345A>G	c.(2344-2346)gAc>gGc	p.D782G	PRKD2_ENST00000600194.1_Missense_Mutation_p.D625G|PRKD2_ENST00000433867.1_Missense_Mutation_p.D782G|PRKD2_ENST00000595515.1_Missense_Mutation_p.D792G|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000601806.1_Missense_Mutation_p.D625G|DACT3-AS1_ENST00000525352.1_RNA			Q9BZL6	KPCD2_HUMAN	protein kinase D2	782	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)		GTTGATGAGGTCAATGGCTGC	0.567																																						uc002pfh.2		NaN																	0				ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(2344-2346)GAC>GGC		protein kinase D2 isoform A							82.0	54.0	63.0					19																	47178369		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.chr19:47178369T>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.2345A>G	19.37:g.47178369T>C	ENSP00000291281:p.Asp782Gly					PRKD2_uc002pfd.2_Missense_Mutation_p.D156G|PRKD2_uc010eks.2_Missense_Mutation_p.D185G|PRKD2_uc010ekt.2_Missense_Mutation_p.D49G|PRKD2_uc002pfe.2_Missense_Mutation_p.D312G|PRKD2_uc002pff.2_Missense_Mutation_p.D302G|PRKD2_uc002pfg.2_Missense_Mutation_p.D625G|PRKD2_uc002pfi.2_Missense_Mutation_p.D782G|PRKD2_uc002pfj.2_Missense_Mutation_p.D782G|PRKD2_uc010xye.1_Missense_Mutation_p.D792G|PRKD2_uc002pfk.2_Missense_Mutation_p.D625G	p.D782G	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	2687	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	782			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.2345A>G	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.851471	0.91355	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	D;D	0.85339	-1.97;-1.97	5.39	5.39	0.77823	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	0.91938	0.7447	M	0.77486	2.375	0.80722	D	1	D;P;D	0.89917	0.995;0.868;1.0	D;P;D	0.80764	0.955;0.817;0.994	D	0.92937	0.6369	10	0.87932	D	0	-56.534	14.6862	0.69052	0.0:0.0:0.0:1.0	.	792;267;782	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	G	782	ENSP00000291281:D782G;ENSP00000393978:D782G	ENSP00000291281:D782G	D	-	2	0	PRKD2	51870209	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.235000	0.72332	2.169000	0.68431	0.533000	0.62120	GAC		0.567	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1		NM_016457		31	20	0	0	0	0.010818	0	31	20		
NLRP9	338321	broad.mit.edu	37	19	56244156	56244156	+	Silent	SNP	C	C	T	rs146611098		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:56244156C>T	ENST00000332836.2	-	2	1068	c.1041G>A	c.(1039-1041)gtG>gtA	p.V347V		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	347	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.V347V(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCCTCTGTTTCACACAAGTAC	0.418																																						uc002qly.2		NaN																	1	Substitution - coding silent(1)	p.V347V(1)	skin(1)	skin(4)|ovary(2)|breast(1)	7						c.(1039-1041)GTG>GTA		NLR family, pyrin domain containing 9							108.0	104.0	105.0					19																	56244156		2203	4300	6503	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56244156C>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1041G>A	19.37:g.56244156C>T							p.V347V	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1069	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	347			NACHT.		B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.1041G>A	CCDS12934.1																																																																																				0.418	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1		NM_176820		209	35	0	0	0	0.01441	0	209	35		
NLRP9	338321	broad.mit.edu	37	19	56244288	56244288	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:56244288C>G	ENST00000332836.2	-	2	936	c.909G>C	c.(907-909)aaG>aaC	p.K303N		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	303	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AATACGACTTCTTTTCAGATT	0.388																																						uc002qly.2		NaN																	0				skin(4)|ovary(2)|breast(1)	7						c.(907-909)AAG>AAC		NLR family, pyrin domain containing 9							58.0	57.0	57.0					19																	56244288		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56244288C>G	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.909G>C	19.37:g.56244288C>G	ENSP00000331857:p.Lys303Asn						p.K303N	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	937	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	303			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.909G>C	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	6.731	0.503648	0.12822	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.63255	-0.03	2.46	0.291	0.15732	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.56761	0.2007	L	0.52905	1.665	0.09310	N	1	P	0.41188	0.741	P	0.44422	0.449	T	0.49960	-0.8883	9	0.56958	D	0.05	.	4.9598	0.14061	0.0:0.5555:0.0:0.4444	.	303	Q7RTR0	NALP9_HUMAN	N	303	ENSP00000331857:K303N	ENSP00000331857:K303N	K	-	3	2	NLRP9	60936100	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.019000	0.13444	0.169000	0.19679	-0.147000	0.13772	AAG		0.388	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1		NM_176820		112	25	0	0	0	0.01441	0	112	25		
ZNF274	10782	broad.mit.edu	37	19	58724434	58724434	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:58724434C>A	ENST00000326804.4	+	9	2343	c.1884C>A	c.(1882-1884)acC>acA	p.T628T	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.T596T|ZNF274_ENST00000424679.2_Silent_p.T523T	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	629					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AGGCCTTCACCCAGAGCTCAC	0.517																																						uc002qrq.1		NaN																	0				ovary(1)	1						c.(1885-1887)ACC>ACA		zinc finger protein 274 isoform c							65.0	68.0	67.0					19																	58724434		2059	4229	6288	SO:0001819	synonymous_variant	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58724434C>A	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1884C>A	19.37:g.58724434C>A						ZNF274_uc002qrr.1_Silent_p.T597T|ZNF274_uc002qrs.1_Silent_p.T524T|ZNF274_uc010eum.1_Silent_p.T388T	p.T629T	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	10	2346	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	629			C2H2-type 5.		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Silent	SNP	ENST00000326804.4	37	c.1887C>A																																																																																					0.517	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_133502		46	409	1	0	2.40228e-13	0.013114	2.53018e-13	46	409		
MYT1L	23040	broad.mit.edu	37	2	1926269	1926269	+	Missense_Mutation	SNP	G	G	T	rs553083381		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:1926269G>T	ENST00000399161.2	-	10	2019	c.1272C>A	c.(1270-1272)ttC>ttA	p.F424L	MYT1L_ENST00000428368.2_Missense_Mutation_p.F424L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	424					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGTCATGTCGAACACCTCTT	0.567																																						uc002qxe.2		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(1270-1272)TTC>TTA		myelin transcription factor 1-like							109.0	108.0	108.0					2																	1926269		2111	4222	6333	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926269G>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1272C>A	2.37:g.1926269G>T	ENSP00000382114:p.Phe424Leu					MYT1L_uc002qxd.2_Missense_Mutation_p.F424L|MYT1L_uc010ewl.1_RNA	p.F424L	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	2099	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	424					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1272C>A		.	.	.	.	.	.	.	.	.	.	g	10.73	1.432821	0.25813	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.47177	0.85;0.89	5.91	-7.61	0.01299	.	0.044191	0.85682	N	0.000000	T	0.45397	0.1340	L	0.32530	0.975	0.58432	D	0.999996	D;D	0.76494	0.999;0.999	D;D	0.79784	0.984;0.993	T	0.67341	-0.5695	10	0.10636	T	0.68	-24.2936	14.2471	0.65995	0.5963:0.0:0.4037:0.0	.	424;424	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	L	424;372;424	ENSP00000382114:F424L;ENSP00000396103:F424L	ENSP00000295067:F372L	F	-	3	2	MYT1L	1905276	0.985000	0.35326	0.764000	0.31436	0.186000	0.23388	0.415000	0.21181	-1.532000	0.01747	-2.029000	0.00425	TTC		0.567	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1		NM_015025		24	121	1	0	1.85244e-09	0.00333	1.92434e-09	24	121		
APOB	338	broad.mit.edu	37	2	21230048	21230048	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:21230048T>C	ENST00000233242.1	-	26	9819	c.9692A>G	c.(9691-9693)gAt>gGt	p.D3231G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3231	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGTACTTATCAAACTTAAT	0.368																																						uc002red.2		NaN																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(9691-9693)GAT>GGT		apolipoprotein B precursor	Atorvastatin(DB01076)						45.0	46.0	46.0					2																	21230048		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230048T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9692A>G	2.37:g.21230048T>C	ENSP00000233242:p.Asp3231Gly						p.D3231G	NM_000384	NP_000375	P04114	APOB_HUMAN			26	9820	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3231			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9692A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.890781	0.33348	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.38240	1.15	4.6	4.6	0.57074	.	0.236513	0.29106	N	0.013124	T	0.61337	0.2339	M	0.87381	2.88	0.80722	D	1	D	0.57899	0.981	P	0.61132	0.884	T	0.69760	-0.5058	10	0.72032	D	0.01	.	13.9786	0.64287	0.0:0.0:0.0:1.0	.	3231	P04114	APOB_HUMAN	G	3231	ENSP00000233242:D3231G	ENSP00000233242:D3231G	D	-	2	0	APOB	21083553	1.000000	0.71417	0.026000	0.17262	0.359000	0.29487	1.946000	0.40283	1.712000	0.51347	0.460000	0.39030	GAT		0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1				9	39	0	0	0	0.004482	0	9	39		
LTBP1	4052	broad.mit.edu	37	2	33568000	33568000	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:33568000C>G	ENST00000404816.2	+	25	4179	c.3826C>G	c.(3826-3828)Caa>Gaa	p.Q1276E	LTBP1_ENST00000407925.1_Missense_Mutation_p.Q950E|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000390003.4_Missense_Mutation_p.Q951E|LTBP1_ENST00000404525.1_Missense_Mutation_p.Q897E|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q897E|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.Q1277E			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1276	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)				TCAGGGCTTTCAAGCCCCACA	0.458																																						uc002ros.2		NaN																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(3829-3831)CAA>GAA		latent transforming growth factor beta binding							92.0	78.0	83.0					2																	33568000		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.chr2:33568000C>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.3826C>G	2.37:g.33568000C>G	ENSP00000386043:p.Gln1276Glu					LTBP1_uc002rot.2_Missense_Mutation_p.Q951E|LTBP1_uc002rou.2_Missense_Mutation_p.Q950E|LTBP1_uc002rov.2_Missense_Mutation_p.Q897E|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron|LTBP1_uc010ynb.1_Intron	p.Q1277E	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			25	3829	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1276			EGF-like 13; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3829C>G	CCDS33177.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.86|12.86	2.063264|2.063264	0.36373|0.36373	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000415140|ENST00000404816;ENST00000354476;ENST00000390003;ENST00000402934;ENST00000404525;ENST00000407925	.|D;D;D;D;D;D	.|0.91295	.|-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|.	.|.	.|.	.|.	D|D	0.89584|0.89584	0.6757|0.6757	N|N	0.11892|0.11892	0.195|0.195	0.80722|0.80722	D|D	1|1	.|B;D;D;D	.|0.71674	.|0.067;0.996;0.982;0.998	.|B;D;P;D	.|0.80764	.|0.051;0.99;0.879;0.994	T|T	0.83265|0.83265	-0.0046|-0.0046	6|9	0.49607|0.02654	T|T	0.09|1	.|.	20.3045|20.3045	0.98621|0.98621	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|897;950;951;1277	.|Q14766-3;Q14766-2;Q14766-5;Q14766-4	.|.;.;.;.	L|E	237|1276;1277;951;897;897;950	.|ENSP00000386043:Q1276E;ENSP00000346467:Q1277E;ENSP00000374653:Q951E;ENSP00000384373:Q897E;ENSP00000385359:Q897E;ENSP00000384091:Q950E	ENSP00000388154:F237L|ENSP00000346467:Q1277E	F|Q	+|+	3|1	2|0	LTBP1|LTBP1	33421504|33421504	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.377000|4.377000	0.59562|0.59562	2.807000|2.807000	0.96579|0.96579	0.557000|0.557000	0.71058|0.71058	TTC|CAA		0.458	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2		NM_206943		18	59	0	0	0	0.00499	0	18	59		
MTIF2	4528	broad.mit.edu	37	2	55476578	55476578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:55476578C>T	ENST00000263629.4	-	9	1249	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	MTIF2_ENST00000394600.3_Missense_Mutation_p.E312K|MTIF2_ENST00000403721.1_Missense_Mutation_p.E312K	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	312	tr-type G.				formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CCATAATCTTCACATACCACA	0.433																																						uc002ryn.2		NaN																	0				ovary(1)	1						c.(934-936)GAA>AAA		mitochondrial translational initiation factor 2							259.0	222.0	235.0					2																	55476578		2203	4300	6503	SO:0001583	missense	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55476578C>T	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.934G>A	2.37:g.55476578C>T	ENSP00000263629:p.Glu312Lys					MTIF2_uc010yox.1_5'UTR|MTIF2_uc002ryo.2_Missense_Mutation_p.E312K	p.E312K	NM_001005369	NP_001005369	P46199	IF2M_HUMAN			10	1671	-			312			G-domain.		D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	c.934G>A	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	C	36	5.830095	0.96996	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000418823;ENST00000535023	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.9	5.9	0.94986	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.85596	0.5733	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86101	0.1556	10	0.87932	D	0	-23.63	20.2821	0.98520	0.0:1.0:0.0:0.0	.	312	P46199	IF2M_HUMAN	K	312;312;312;32;312	ENSP00000384481:E312K;ENSP00000263629:E312K;ENSP00000378099:E312K;ENSP00000403492:E32K	ENSP00000263629:E312K	E	-	1	0	MTIF2	55330082	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.786000	0.95864	0.563000	0.77884	GAA		0.433	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4		NM_002453		20	79	0	0	0	0.008871	0	20	79		
SMEK2	57223	broad.mit.edu	37	2	55825620	55825620	+	Missense_Mutation	SNP	C	C	G	rs576584835		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:55825620C>G	ENST00000345102.5	-	4	1154	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	SMEK2_ENST00000407823.3_Missense_Mutation_p.E285Q|SMEK2_ENST00000272313.5_Missense_Mutation_p.E285Q	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	285					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGAAAATTCTCTTCAAAAACA	0.348																																						uc002rzc.2		NaN																	0				skin(1)	1						c.(853-855)GAG>CAG		SMEK homolog 2, suppressor of mek1 isoform 1							70.0	70.0	70.0					2																	55825620		2203	4300	6503	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55825620C>G	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.853G>C	2.37:g.55825620C>G	ENSP00000339769:p.Glu285Gln					SMEK2_uc002rzb.2_Missense_Mutation_p.E285Q|SMEK2_uc002rzd.2_Missense_Mutation_p.E285Q|SMEK2_uc002rza.2_Missense_Mutation_p.E161Q	p.E285Q	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	1228	-			285					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.853G>C	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759348	0.89932	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.48201	0.82;0.82;0.82	5.7	5.7	0.88788	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.86420	2.815	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.975	D;D;D;P	0.79108	0.991;0.992;0.991;0.775	T	0.78347	-0.2239	10	0.72032	D	0.01	-9.8919	19.8344	0.96650	0.0:1.0:0.0:0.0	.	285;285;285;285	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	Q	285	ENSP00000272313:E285Q;ENSP00000385912:E285Q;ENSP00000339769:E285Q	ENSP00000272313:E285Q	E	-	1	0	SMEK2	55679124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.692000	0.91855	0.655000	0.94253	GAG		0.348	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1		NM_020463		61	37	0	0	0	0.01441	0	61	37		
GPAT2	150763	broad.mit.edu	37	2	96688908	96688908	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:96688908T>G	ENST00000434632.1	-	20	2554	c.2095A>C	c.(2095-2097)Aag>Cag	p.K699Q	FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Missense_Mutation_p.K699Q|GPAT2_ENST00000453542.1_Missense_Mutation_p.K628Q|GPAT2_ENST00000377137.3_Intron			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	699					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCAAAGGCCTTGAGCAGCGGG	0.642																																						uc002svf.2		NaN																	0					0						c.(2095-2097)AAG>CAG		glycerol-3-phosphate acyltransferase 2,							11.0	13.0	13.0					2																	96688908		1811	4042	5853	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96688908T>G	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.2095A>C	2.37:g.96688908T>G	ENSP00000389395:p.Lys699Gln					GPAT2_uc002svd.2_Missense_Mutation_p.K518Q|GPAT2_uc002sve.2_Missense_Mutation_p.K501Q|GPAT2_uc002svg.2_Missense_Mutation_p.K578Q|GPAT2_uc010yuh.1_Missense_Mutation_p.K628Q|GPAT2_uc002svh.2_Intron	p.K699Q	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN			19	2318	-			699					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.2095A>C	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	t	16.31	3.086544	0.55861	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542	T;T;T	0.77620	-1.11;-1.11;-0.1	5.44	5.44	0.79542	.	0.276731	0.35320	N	0.003293	D	0.82282	0.5003	L	0.40543	1.245	0.80722	D	1	D;P;P;D	0.67145	0.996;0.554;0.493;0.989	P;B;B;D	0.75020	0.889;0.216;0.165;0.985	T	0.81841	-0.0747	10	0.40728	T	0.16	-12.4217	13.4426	0.61123	0.0:0.0:0.0:1.0	.	628;705;699;628	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;GPAT2_HUMAN;.	Q	699;699;628	ENSP00000352547:K699Q;ENSP00000389395:K699Q;ENSP00000393770:K628Q	ENSP00000352547:K699Q	K	-	1	0	GPAT2	96052635	0.955000	0.32602	1.000000	0.80357	0.972000	0.66771	1.055000	0.30467	2.077000	0.62373	0.519000	0.50382	AAG		0.642	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1		NM_207328		12	53	0	0	0	0.001855	0	12	53		
SLC9A4	389015	broad.mit.edu	37	2	103090411	103090411	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:103090411G>A	ENST00000295269.4	+	1	650	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	65					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACTGGATTATGACTATGTGCA	0.423																																						uc002tbz.3		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(193-195)GAC>AAC		solute carrier family 9 (sodium/hydrogen							132.0	124.0	127.0					2																	103090411		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103090411G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.193G>A	2.37:g.103090411G>A	ENSP00000295269:p.Asp65Asn						p.D65N	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			1	650	+			65			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.193G>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638630	0.47153	.	.	ENSG00000180251	ENST00000295269	T	0.76968	-1.06	6.04	6.04	0.98038	.	0.235966	0.44097	D	0.000491	T	0.75243	0.3823	M	0.63843	1.955	0.40388	D	0.979517	B	0.13145	0.007	B	0.16722	0.016	T	0.68700	-0.5339	10	0.23891	T	0.37	.	15.6964	0.77502	0.0668:0.0:0.9332:0.0	.	65	Q6AI14	SL9A4_HUMAN	N	65	ENSP00000295269:D65N	ENSP00000295269:D65N	D	+	1	0	SLC9A4	102456843	0.968000	0.33430	1.000000	0.80357	0.992000	0.81027	1.275000	0.33144	2.873000	0.98535	0.563000	0.77884	GAC		0.423	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1		NM_001011552.3		28	216	0	0	0	0.005443	0	28	216		
SULT1C2	6819	broad.mit.edu	37	2	108910720	108910720	+	Missense_Mutation	SNP	G	G	C	rs144954759		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:108910720G>C	ENST00000437390.2	+	3	364	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	SULT1C2_ENST00000409880.1_Missense_Mutation_p.E63Q|SULT1C2_ENST00000251481.6_Missense_Mutation_p.E63Q|SULT1C2_ENST00000326853.5_Missense_Mutation_p.E63Q			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	69					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGATATGATTGAACAGAATGG	0.517																																						uc002tdy.2		NaN																	0				ovary(1)	1						c.(187-189)GAA>CAA		sulfotransferase family, cytosolic, 1C, member 1							193.0	181.0	185.0					2																	108910720		2203	4300	6503	SO:0001583	missense	6819				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	g.chr2:108910720G>C	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.187G>C	2.37:g.108910720G>C	ENSP00000399651:p.Glu63Gln					SULT1C2_uc010ywp.1_5'UTR|SULT1C2_uc002tdx.2_Missense_Mutation_p.E63Q|SULT1C2_uc010ywq.1_Missense_Mutation_p.E63Q	p.E63Q	NM_001056	NP_001047	O00338	ST1C2_HUMAN			3	640	+			63					Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000437390.2	37	c.187G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.882|7.882	0.730428|0.730428	0.15507|0.15507	.|.	.|.	ENSG00000198203|ENSG00000198203	ENST00000251481;ENST00000326853;ENST00000438339;ENST00000409880;ENST00000437390|ENST00000409067	T;T;T;T;T|.	0.01647|.	4.71;4.71;4.71;4.71;4.71|.	4.97|4.97	2.06|2.06	0.26882|0.26882	Sulfotransferase domain (1);|.	0.673114|.	0.14502|.	N|.	0.315656|.	T|.	0.12902|.	0.0313|.	N|N	0.01493|0.01493	-0.835|-0.835	0.09310|0.09310	N|N	1|1	B;B;B|.	0.10296|.	0.003;0.002;0.003|.	B;B;B|.	0.09377|.	0.004;0.003;0.002|.	T|.	0.26189|.	-1.0110|.	10|.	0.21540|.	T|.	0.41|.	.|.	11.2358|11.2358	0.48940|0.48940	0.0:0.5353:0.3275:0.1371|0.0:0.5353:0.3275:0.1371	.|.	63;63;63|.	B4DLP0;O00338;O00338-2|.	.;ST1C2_HUMAN;.|.	Q|S	63|59	ENSP00000251481:E63Q;ENSP00000319622:E63Q;ENSP00000401996:E63Q;ENSP00000387054:E63Q;ENSP00000399651:E63Q|.	ENSP00000251481:E63Q|.	E|X	+|+	1|2	0|2	SULT1C2|SULT1C2	108277152|108277152	0.384000|0.384000	0.25164|0.25164	0.055000|0.055000	0.19348|0.19348	0.994000|0.994000	0.84299|0.84299	0.988000|0.988000	0.29616|0.29616	0.234000|0.234000	0.21139|0.21139	0.655000|0.655000	0.94253|0.94253	GAA|TGA		0.517	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2		NM_176825		127	76	0	0	0	0.01441	0	127	76		
GCC2	9648	broad.mit.edu	37	2	109088444	109088444	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:109088444C>G	ENST00000309863.6	+	6	3373	c.2659C>G	c.(2659-2661)Caa>Gaa	p.Q887E		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	887					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGAAGTATCTCAAACATGTAG	0.308																																						uc002tec.2		NaN																	0				ovary(1)	1						c.(2659-2661)CAA>GAA		GRIP and coiled-coil domain-containing 2							31.0	34.0	33.0					2																	109088444		2196	4290	6486	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109088444C>G	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2659C>G	2.37:g.109088444C>G	ENSP00000307939:p.Gln887Glu					GCC2_uc002ted.2_Missense_Mutation_p.Q786E	p.Q887E	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	2813	+			887			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.2659C>G	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	C	4.999	0.185470	0.09495	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.27557	1.66	5.6	5.6	0.85130	.	0.507247	0.19531	N	0.112022	T	0.26991	0.0661	L	0.53249	1.67	0.27263	N	0.958589	B	0.21071	0.051	B	0.15052	0.012	T	0.36432	-0.9748	10	0.02654	T	1	.	15.1996	0.73126	0.0:0.7932:0.2068:0.0	.	887	Q8IWJ2	GCC2_HUMAN	E	887;850;631	ENSP00000307939:Q887E	ENSP00000307939:Q887E	Q	+	1	0	GCC2	108454876	0.728000	0.28080	0.963000	0.40424	0.556000	0.35491	0.490000	0.22403	2.798000	0.96311	0.650000	0.86243	CAA		0.308	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3		NM_014635		52	38	0	0	0	0.01441	0	52	38		
SCTR	6344	broad.mit.edu	37	2	120204401	120204401	+	Silent	SNP	G	G	A	rs140245245	byFrequency	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:120204401G>A	ENST00000019103.5	-	11	1341	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	358					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GGGAGAAGGCGAAGACGATGT	0.572													G|||	2	0.000399361	0.0	0.0	5008	,	,		17558	0.002		0.0	False		,,,				2504	0.0					uc002tma.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1072-1074)TTC>TTT		secretin receptor precursor	Secretin(DB00021)	G		0,4406		0,0,2203	100.0	98.0	99.0		1074	-5.4	0.8	2	dbSNP_134	99	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SCTR	NM_002980.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		358/441	120204401	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120204401G>A		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.1074C>T	2.37:g.120204401G>A						SCTR_uc002tlz.2_Silent_p.F180F	p.F358F	NM_002980	NP_002971	P47872	SCTR_HUMAN			11	1300	-			358			Helical; Name=6; (Potential).		Q12961|Q13213|Q53T00	Silent	SNP	ENST00000019103.5	37	c.1074C>T	CCDS2127.1																																																																																				0.572	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2				30	139	0	0	0	0.004878	0	30	139		
CLASP1	23332	broad.mit.edu	37	2	122098465	122098465	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:122098465G>A	ENST00000263710.4	-	40	4978	c.4589C>T	c.(4588-4590)tCc>tTc	p.S1530F	CLASP1_ENST00000455322.2_Missense_Mutation_p.S1486F|CLASP1_ENST00000541377.1_Missense_Mutation_p.S1469F|CLASP1_ENST00000397587.3_Missense_Mutation_p.S1470F|CLASP1_ENST00000409078.3_Missense_Mutation_p.S1463F|CLASP1_ENST00000545861.1_Missense_Mutation_p.S1237F|CLASP1_ENST00000541859.1_Missense_Mutation_p.S1247F	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1530	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.|Poly-Ser.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					ATCGGAGGAGGAGCTGCTGTT	0.488																																						uc002tnc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(4588-4590)TCC>TTC		CLIP-associating protein 1 isoform 1							120.0	130.0	127.0					2																	122098465		2059	4217	6276	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122098465G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4589C>T	2.37:g.122098465G>A	ENSP00000263710:p.Ser1530Phe					CLASP1_uc010yyv.1_Missense_Mutation_p.S576F|CLASP1_uc002tmz.2_Missense_Mutation_p.S615F|CLASP1_uc002tna.2_Missense_Mutation_p.S576F|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.S1471F|CLASP1_uc010yza.1_Missense_Mutation_p.S1463F|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Missense_Mutation_p.S366F	p.S1530F	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			39	4979	-	Renal(3;0.0496)		1530			Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Poly-Ser.|Interaction with CLIP2 (By similarity).		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.4589C>T		.	.	.	.	.	.	.	.	.	.	G	15.53	2.861769	0.51482	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T	0.54479	1.9;1.94;1.96;1.93;0.57;1.93	4.96	3.04	0.35103	.	0.500798	0.23220	N	0.050563	T	0.50667	0.1629	L	0.27053	0.805	0.52099	D	0.99994	P;P;P	0.50528	0.894;0.936;0.894	P;P;P	0.51355	0.467;0.667;0.467	T	0.54146	-0.8337	10	0.66056	D	0.02	-7.1897	14.774	0.69703	0.0:0.3294:0.6706:0.0	.	1463;1470;1530	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	F	1530;1486;1470;1469;1247;1463;1237	ENSP00000263710:S1530F;ENSP00000389372:S1486F;ENSP00000380717:S1470F;ENSP00000441625:S1469F;ENSP00000441770:S1247F;ENSP00000386442:S1463F	ENSP00000263710:S1530F	S	-	2	0	CLASP1	121814935	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	2.765000	0.47621	0.554000	0.29061	0.561000	0.74099	TCC		0.488	CLASP1-201	KNOWN	basic	protein_coding	protein_coding			NM_015282		13	25	0	0	0	0.001855	0	13	25		
GRB14	2888	broad.mit.edu	37	2	165365357	165365357	+	Silent	SNP	C	C	T	rs200051864		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:165365357C>T	ENST00000263915.3	-	7	1360	c.822G>A	c.(820-822)ccG>ccA	p.P274P	GRB14_ENST00000543549.1_Silent_p.P187P	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	274	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GCAAATGCCGCGGTTCCTTAA	0.328																																						uc002ucl.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						c.(820-822)CCG>CCA		growth factor receptor-bound protein 14							81.0	82.0	82.0					2																	165365357		2203	4300	6503	SO:0001819	synonymous_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165365357C>T		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.822G>A	2.37:g.165365357C>T						GRB14_uc010zcv.1_Silent_p.P187P|GRB14_uc002ucm.2_RNA	p.P274P	NM_004490	NP_004481	Q14449	GRB14_HUMAN			7	1363	-			274			PH.		B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	37	c.822G>A	CCDS2222.1																																																																																				0.328	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2				20	99	0	0	0	0.010504	0	20	99		
XIRP2	129446	broad.mit.edu	37	2	168103464	168103464	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:168103464G>A	ENST00000409195.1	+	9	5651	c.5562G>A	c.(5560-5562)caG>caA	p.Q1854Q	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Q1854Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.Q1632Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1679					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGTAAATCAGAAAACAGTGA	0.388																																						uc002udx.2		NaN																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(5560-5562)CAG>CAA		xin actin-binding repeat containing 2 isoform 1							79.0	71.0	73.0					2																	168103464		1846	4088	5934	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103464G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5562G>A	2.37:g.168103464G>A						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.Q1679Q|XIRP2_uc010fpq.2_Silent_p.Q1632Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.Q1854Q	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5580	+			1679					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.5562G>A	CCDS42769.1																																																																																				0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		28	40	0	0	0	0.007291	0	28	40		
TTN	7273	broad.mit.edu	37	2	179433265	179433265	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:179433265C>T	ENST00000591111.1	-	276	72895	c.72671G>A	c.(72670-72672)gGt>gAt	p.G24224D	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16925D|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16800D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23297D|TTN_ENST00000589042.1_Missense_Mutation_p.G25865D|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16992D|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24224	Ig-like 121.				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)			ATATTGTCCACCATCATCCTT	0.413																																						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.(69889-69891)GGT>GAT		titin isoform N2-A							221.0	205.0	210.0					2																	179433265		1937	4151	6088	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433265C>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.72671G>A	2.37:g.179433265C>T	ENSP00000465570:p.Gly24224Asp					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G16992D|TTN_uc010zfi.1_Missense_Mutation_p.G16925D|TTN_uc010zfj.1_Missense_Mutation_p.G16800D	p.G23297D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	70114	-			24224					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.69890G>A		.	.	.	.	.	.	.	.	.	.	C	10.86	1.470853	0.26423	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	6.03	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56262	0.1973	L	0.51422	1.61	0.42578	D	0.993208	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.13407	0.005;0.005;0.009;0.009	T	0.56896	-0.7903	9	0.87932	D	0	.	10.9008	0.47051	0.0:0.8028:0.1295:0.0677	.	16800;16925;16992;24224	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	23297;16800;16992;16925;16798	ENSP00000343764:G23297D;ENSP00000434586:G16800D;ENSP00000340554:G16992D;ENSP00000352154:G16925D	ENSP00000340554:G16992D	G	-	2	0	TTN	179141511	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.105000	0.41825	1.555000	0.49500	0.655000	0.94253	GGT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		17	56	0	0	0	0.00499	0	17	56		
TTN	7273	broad.mit.edu	37	2	179445285	179445285	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:179445285C>T	ENST00000591111.1	-	267	62122	c.61898G>A	c.(61897-61899)cGt>cAt	p.R20633H	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13334H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13209H|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19706H|TTN_ENST00000589042.1_Missense_Mutation_p.R22274H|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13401H|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20633					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)			AACTCCAGCACGTAATATGAG	0.378																																						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.(59116-59118)CGT>CAT		titin isoform N2-A							80.0	70.0	73.0					2																	179445285		1854	4091	5945	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179445285C>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.61898G>A	2.37:g.179445285C>T	ENSP00000465570:p.Arg20633His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R13401H|TTN_uc010zfi.1_Missense_Mutation_p.R13334H|TTN_uc010zfj.1_Missense_Mutation_p.R13209H|uc002umv.1_3'UTR	p.R19706H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		266	59341	-			20633					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.59117G>A		.	.	.	.	.	.	.	.	.	.	C	16.00	2.998357	0.54147	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.34	5.34	0.76211	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82486	0.5047	M	0.74647	2.275	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.84433	0.0578	9	0.87932	D	0	.	19.0305	0.92955	0.0:1.0:0.0:0.0	.	13209;13334;13401;20633	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	19706;13209;13401;13334;13207	ENSP00000343764:R19706H;ENSP00000434586:R13209H;ENSP00000340554:R13401H;ENSP00000352154:R13334H	ENSP00000340554:R13401H	R	-	2	0	TTN	179153531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.864000	0.62990	2.500000	0.84329	0.563000	0.77884	CGT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		6	25	0	0	0	0.001984	0	6	25		
TTN	7273	broad.mit.edu	37	2	179578722	179578722	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:179578722T>C	ENST00000591111.1	-	90	25936	c.25712A>G	c.(25711-25713)aAg>aGg	p.K8571R	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K7644R|TTN_ENST00000589042.1_Missense_Mutation_p.K8888R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12735	Ig-like 68.				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)			ATTGATGATCTTAAGGCCGGA	0.443																																						uc010zfg.1		NaN																	0		p.K7644R(1)		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.(22930-22932)AAG>AGG		titin isoform N2-A							169.0	160.0	163.0					2																	179578722		1893	4123	6016	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179578722T>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.25712A>G	2.37:g.179578722T>C	ENSP00000465570:p.Lys8571Arg					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K4305R	p.K7644R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		89	23155	-			8571					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.22931A>G		.	.	.	.	.	.	.	.	.	.	T	16.12	3.031656	0.54790	.	.	ENSG00000155657	ENST00000342992	T	0.64803	-0.12	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59473	0.2196	L	0.31664	0.95	0.80722	D	1	D	0.53312	0.959	P	0.47603	0.551	T	0.64575	-0.6375	9	0.87932	D	0	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	8571	Q8WZ42	TITIN_HUMAN	R	7644	ENSP00000343764:K7644R	ENSP00000343764:K7644R	K	-	2	0	TTN	179286967	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.034000	0.64152	2.326000	0.78906	0.533000	0.62120	AAG		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		9	26	0	0	0	0.004482	0	9	26		
ITGA4	3676	broad.mit.edu	37	2	182339776	182339776	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:182339776G>A	ENST00000397033.2	+	3	839	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	ITGA4_ENST00000339307.4_Missense_Mutation_p.E137K|ITGA4_ENST00000478440.1_3'UTR	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	137					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	ACAGCCAGGAGAAAATGGATC	0.458																																						uc002unu.2		NaN																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(409-411)GAA>AAA		integrin alpha 4 precursor	Natalizumab(DB00108)						92.0	91.0	91.0					2																	182339776		1913	4134	6047	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182339776G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.409G>A	2.37:g.182339776G>A	ENSP00000380227:p.Glu137Lys					ITGA4_uc010zfl.1_Missense_Mutation_p.E137K	p.E137K	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		3	1172	+			137			FG-GAP 2.|Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.409G>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902161	0.33628	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	T;T;T	0.71341	0.51;-0.56;-0.56	5.43	3.59	0.41128	.	0.247117	0.44285	D	0.000480	T	0.44414	0.1292	N	0.13043	0.29	0.36783	D	0.884463	B;B	0.19706	0.005;0.038	B;B	0.15052	0.006;0.012	T	0.40553	-0.9557	10	0.02654	T	1	.	6.976	0.24674	0.143:0.0:0.7158:0.1413	.	137;137	E7EP60;P13612	.;ITA4_HUMAN	K	137	ENSP00000340149:E137K;ENSP00000380227:E137K;ENSP00000233573:E137K	ENSP00000233573:E137K	E	+	1	0	ITGA4	182048021	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	2.693000	0.47027	0.735000	0.32537	0.655000	0.94253	GAA		0.458	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1				6	26	0	0	0	0.00308	0	6	26		
CPS1	1373	broad.mit.edu	37	2	211473145	211473145	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:211473145G>C	ENST00000233072.5	+	19	2449	c.2253G>C	c.(2251-2253)aaG>aaC	p.K751N	CPS1_ENST00000430249.2_Missense_Mutation_p.K757N|CPS1_ENST00000451903.2_Missense_Mutation_p.K300N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	751					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CAGAAATTAAGAACGTCGTAT	0.423																																						uc002vee.3		NaN																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2251-2253)AAG>AAC		carbamoyl-phosphate synthetase 1 isoform b							117.0	114.0	115.0					2																	211473145		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211473145G>C	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2253G>C	2.37:g.211473145G>C	ENSP00000233072:p.Lys751Asn					CPS1_uc010fur.2_Missense_Mutation_p.K757N|CPS1_uc010fus.2_Missense_Mutation_p.K300N	p.K751N	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	19	2385	+			751					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2253G>C	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.862111	0.32884	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97303	-4.33;-4.33;-4.33	6.16	4.37	0.52481	ATP-grasp fold, subdomain 2 (1);	0.044847	0.85682	D	0.000000	D	0.96312	0.8797	M	0.82823	2.61	0.53688	D	0.999972	B;B	0.26002	0.139;0.139	B;B	0.21917	0.037;0.037	D	0.94319	0.7552	10	0.66056	D	0.02	-9.2517	13.0114	0.58733	0.1298:0.0:0.8702:0.0	.	761;751	Q59HF8;P31327	.;CPSM_HUMAN	N	757;759;751;300	ENSP00000402608:K757N;ENSP00000233072:K751N;ENSP00000406136:K300N	ENSP00000233072:K751N	K	+	3	2	CPS1	211181390	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	3.907000	0.56348	0.934000	0.37316	0.650000	0.86243	AAG		0.423	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5				37	51	0	0	0	0.005524	0	37	51		
SPEG	10290	broad.mit.edu	37	2	220353543	220353543	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:220353543C>T	ENST00000312358.7	+	34	8202	c.8070C>T	c.(8068-8070)taC>taT	p.Y2690Y	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2690	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCAGACCTACCAGGACACGG	0.612																																						uc010fwg.2		NaN																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(8068-8070)TAC>TAT		SPEG complex locus							24.0	27.0	26.0					2																	220353543		2015	4171	6186	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220353543C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8070C>T	2.37:g.220353543C>T							p.Y2690Y	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	34	8070	+		Renal(207;0.0183)	2690			Fibronectin type-III 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.8070C>T	CCDS42824.1																																																																																				0.612	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2		NM_005876		14	24	0	0	0	0.00245	0	14	24		
CCDC140	151278	broad.mit.edu	37	2	223168711	223168711	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:223168711G>A	ENST00000295226.1	+	2	474	c.90G>A	c.(88-90)gcG>gcA	p.A30A		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	30										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGAGGCTGCGAATGAGTCCA	0.547																																						uc002vnb.1		NaN																	0					0						c.(88-90)GCG>GCA		coiled-coil domain containing 140							46.0	50.0	49.0					2																	223168711		2203	4300	6503	SO:0001819	synonymous_variant	151278							g.chr2:223168711G>A	AK057009	CCDS2452.1	2q36.1	2008-02-05			ENSG00000163081	ENSG00000163081			26514	protein-coding gene	gene with protein product							Standard	NM_153038		Approved	FLJ32447	uc002vnb.1	Q96MF4	OTTHUMG00000133154	ENST00000295226.1:c.90G>A	2.37:g.223168711G>A							p.A30A	NM_153038	NP_694583	Q96MF4	CC140_HUMAN		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	474	+		Renal(207;0.0376)	30						Silent	SNP	ENST00000295226.1	37	c.90G>A	CCDS2452.1																																																																																				0.547	CCDC140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256854.1		NM_153038		41	66	0	0	0	0.00874	0	41	66		
SIRPG	55423	broad.mit.edu	37	20	1638344	1638344	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:1638344G>A	ENST00000303415.3	-	1	81	c.17C>T	c.(16-18)tCc>tTc	p.S6F	SIRPG_ENST00000216927.4_Missense_Mutation_p.S6F|SIRPG_ENST00000344103.4_Missense_Mutation_p.S6F|SIRPG_ENST00000381583.2_Missense_Mutation_p.S6F	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	6					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ATGGGGCCAGGAGGCTGGGAC	0.557																																						uc002wfm.1		NaN																	0				ovary(1)	1						c.(16-18)TCC>TTC		signal-regulatory protein gamma isoform 1							127.0	116.0	120.0					20																	1638344		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1638344G>A	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.17C>T	20.37:g.1638344G>A	ENSP00000305529:p.Ser6Phe					SIRPG_uc002wfn.1_Missense_Mutation_p.S6F|SIRPG_uc002wfo.1_Missense_Mutation_p.S6F	p.S6F	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			1	82	-			6					B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.17C>T	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	6.866	0.529189	0.13127	.	.	ENSG00000089012	ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T	0.12255	4.52;2.7;5.16;5.16	2.29	1.32	0.21799	.	0.543822	0.15029	N	0.284591	T	0.13500	0.0327	M	0.63428	1.95	0.09310	N	1	B;B;B	0.24368	0.102;0.056;0.09	B;B;B	0.24848	0.054;0.056;0.041	T	0.22906	-1.0203	10	0.62326	D	0.03	.	4.5726	0.12217	0.1908:0.0:0.8092:0.0	.	6;6;6	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	F	6	ENSP00000342759:S6F;ENSP00000305529:S6F;ENSP00000370995:S6F;ENSP00000216927:S6F	ENSP00000216927:S6F	S	-	2	0	SIRPG	1586344	0.002000	0.14202	0.002000	0.10522	0.034000	0.12701	0.093000	0.15086	0.520000	0.28426	0.543000	0.68304	TCC		0.557	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2		NM_018556		72	48	0	0	0	0.01441	0	72	48		
FASTKD5	60493	broad.mit.edu	37	20	3128585	3128585	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:3128585C>T	ENST00000380266.3	-	2	1453	c.1132G>A	c.(1132-1134)Gga>Aga	p.G378R	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	378					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GCTATCTCTCCAATCTGCTTC	0.443																																						uc002whz.2		NaN																	0					0						c.(1132-1134)GGA>AGA		FAST kinase domains 5							97.0	91.0	93.0					20																	3128585		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128585C>T	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1132G>A	20.37:g.3128585C>T	ENSP00000369618:p.Gly378Arg					uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	p.G378R	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN			2	1443	-			378					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.1132G>A	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723807	0.48728	.	.	ENSG00000215251	ENST00000380266	T	0.15372	2.43	5.48	4.53	0.55603	.	0.231983	0.35320	N	0.003282	T	0.27241	0.0668	L	0.32530	0.975	0.49798	D	0.999821	D	0.63880	0.993	D	0.62955	0.909	T	0.00624	-1.1639	10	0.45353	T	0.12	.	13.6712	0.62427	0.0:0.9258:0.0:0.0742	.	378	Q7L8L6	FAKD5_HUMAN	R	378	ENSP00000369618:G378R	ENSP00000369618:G378R	G	-	1	0	FASTKD5	3076585	0.993000	0.37304	0.998000	0.56505	0.535000	0.34838	5.537000	0.67186	2.583000	0.87209	0.313000	0.20887	GGA		0.443	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2		NM_021826		32	133	0	0	0	0.009535	0	32	133		
PLCB1	23236	broad.mit.edu	37	20	8678319	8678319	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:8678319G>C	ENST00000338037.6	+	11	1083	c.1056G>C	c.(1054-1056)gtG>gtC	p.V352V	PLCB1_ENST00000378637.2_Silent_p.V352V|PLCB1_ENST00000378641.3_Silent_p.V352V	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	352	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.			V -> A (in Ref. 2; AAF86613). {ECO:0000305}.	activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATCGCCAAGTGCTCCTGTCTG	0.512																																						uc002wnb.2		NaN																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(1054-1056)GTG>GTC		phosphoinositide-specific phospholipase C beta 1							236.0	205.0	216.0					20																	8678319		2203	4300	6503	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8678319G>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1056G>C	20.37:g.8678319G>C						PLCB1_uc010zrb.1_Silent_p.V251V|PLCB1_uc002wna.2_Silent_p.V352V|PLCB1_uc002wnc.1_Silent_p.V251V	p.V352V	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			11	1059	+			352	V -> A (in Ref. 2; AAF86613).		PI-PLC X-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.1056G>C	CCDS13102.1																																																																																				0.512	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3				116	39	0	0	0	0.01441	0	116	39		
SLC24A3	57419	broad.mit.edu	37	20	19677543	19677543	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:19677543G>C	ENST00000328041.6	+	14	1791	c.1594G>C	c.(1594-1596)Gtg>Ctg	p.V532L	RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000608476.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000609610.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	532					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAGCCTCATTGTGGCCAGACA	0.607																																						uc002wrl.2		NaN																	0				ovary(1)	1						c.(1594-1596)GTG>CTG		solute carrier family 24							70.0	60.0	63.0					20																	19677543		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19677543G>C	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1594G>C	20.37:g.19677543G>C	ENSP00000333519:p.Val532Leu						p.V532L	NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN			14	1791	+			532			Cytoplasmic (Potential).|Alpha-2.		B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.1594G>C	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090919	0.94149	.	.	ENSG00000185052	ENST00000328041	T	0.63580	-0.05	5.7	5.7	0.88788	Sodium/calcium exchanger membrane region (1);	0.105832	0.64402	D	0.000005	T	0.78923	0.4360	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.77747	-0.2472	9	.	.	.	.	18.6103	0.91283	0.0:0.0:1.0:0.0	.	532	Q9HC58	NCKX3_HUMAN	L	532	ENSP00000333519:V532L	.	V	+	1	0	SLC24A3	19625543	1.000000	0.71417	0.968000	0.41197	0.967000	0.64934	9.830000	0.99415	2.695000	0.91970	0.561000	0.74099	GTG		0.607	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4		NM_020689		55	15	0	0	0	0.01441	0	55	15		
MYLK2	85366	broad.mit.edu	37	20	30408244	30408244	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:30408244C>T	ENST00000375994.2	+	2	641	c.368C>T	c.(367-369)cCt>cTt	p.P123L	MYLK2_ENST00000375985.4_Missense_Mutation_p.P123L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	123					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGCCAGGATCCTGGAAAGCCC	0.657																																						uc002wwq.2		NaN																	0				lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6						c.(367-369)CCT>CTT		skeletal myosin light chain kinase							33.0	36.0	35.0					20																	30408244		2201	4298	6499	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30408244C>T	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.368C>T	20.37:g.30408244C>T	ENSP00000365162:p.Pro123Leu						p.P123L	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	470	+			123					Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.368C>T	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710509	0.48517	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.67698	-0.28;-0.28	4.7	1.53	0.23141	.	.	.	.	.	T	0.48909	0.1526	L	0.32530	0.975	0.09310	N	1	P	0.39665	0.682	B	0.35550	0.205	T	0.41752	-0.9491	9	0.59425	D	0.04	.	4.57	0.12205	0.1718:0.6385:0.0:0.1897	.	123	Q9H1R3	MYLK2_HUMAN	L	123	ENSP00000365162:P123L;ENSP00000365152:P123L	ENSP00000365152:P123L	P	+	2	0	MYLK2	29871905	0.000000	0.05858	0.002000	0.10522	0.469000	0.32828	0.020000	0.13466	0.596000	0.29794	0.561000	0.74099	CCT		0.657	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2		NM_033118		39	112	0	0	0	0.006999	0	39	112		
PLAGL2	5326	broad.mit.edu	37	20	30784258	30784258	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:30784258C>T	ENST00000246229.4	-	3	1752	c.1488G>A	c.(1486-1488)caG>caA	p.Q496Q		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	496					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	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(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGGGGGCTACTGGAATGCTT	0.577																																					Colon(163;15 1893 11280 16306 47518)	uc002wxn.2		NaN																	0				ovary(1)|skin(1)	2						c.(1486-1488)CAG>CAA		pleiomorphic adenoma gene-like 2							49.0	53.0	52.0					20																	30784258		2203	4299	6502	SO:0001819	synonymous_variant	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30784258C>T		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1488G>A	20.37:g.30784258C>T							p.Q496Q	NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	1705	-			496					A8K8T5|E1P5M3|Q92584	Silent	SNP	ENST00000246229.4	37	c.1488G>A	CCDS13197.1																																																																																				0.577	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2		NM_002657		58	202	0	0	0	0.01441	0	58	202		
MYH7B	57644	broad.mit.edu	37	20	33575921	33575921	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:33575921C>G	ENST00000262873.7	+	17	1661	c.1569C>G	c.(1567-1569)atC>atG	p.I523M	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	481	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I523M(1)|p.I523I(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCTGTGCATCAACTTCACCA	0.562																																						uc002xbi.1		NaN																	2	Substitution - Missense(1)|Substitution - coding silent(1)	p.I523M(1)	breast(1)|kidney(1)	ovary(1)|breast(1)	2						c.(1567-1569)ATC>ATG		myosin, heavy polypeptide 7B, cardiac muscle,							84.0	85.0	85.0					20																	33575921		2203	4300	6503	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33575921C>G	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1569C>G	20.37:g.33575921C>G	ENSP00000262873:p.Ile523Met					MIR499_hsa-mir-499|MI0003183_5'Flank	p.I523M	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		17	1661	+			481			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1569C>G	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132600	0.77662	.	.	ENSG00000078814	ENST00000262873	D	0.91996	-2.95	3.8	3.8	0.43715	Myosin head, motor domain (3);	0.000000	0.34507	N	0.003901	D	0.97986	0.9337	H	0.99794	4.785	0.58432	D	0.999999	P	0.45240	0.854	P	0.61003	0.882	D	0.99379	1.0922	10	0.87932	D	0	.	16.9824	0.86332	0.0:1.0:0.0:0.0	.	481	A7E2Y1	MYH7B_HUMAN	M	523	ENSP00000262873:I523M	ENSP00000262873:I523M	I	+	3	3	MYH7B	33039582	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.865000	0.69583	2.415000	0.81967	0.561000	0.74099	ATC		0.562	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2		NM_020884		170	175	0	0	0	0.01441	0	170	175		
MROH8	140699	broad.mit.edu	37	20	35731106	35731106	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:35731106C>T	ENST00000400441.3	-	24	3112	c.3113G>A	c.(3112-3114)gGc>gAc	p.G1038D	MROH8_ENST00000217333.8_Missense_Mutation_p.G867D|MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000466091.1_5'UTR			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	AGAGGACCTGCCCATGAGCTT	0.512																																						uc010zvu.1		NaN																	0					0						c.(3142-3144)GGC>GAC		hypothetical protein LOC140699 isoform 1							257.0	248.0	251.0					20																	35731106		1991	4165	6156	SO:0001583	missense	140699							g.chr20:35731106C>T	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.3113G>A	20.37:g.35731106C>T	ENSP00000383291:p.Gly1038Asp					C20orf132_uc002xgk.2_Missense_Mutation_p.G670D	p.G1048D	NM_152503	NP_689716	Q9H579	CT132_HUMAN			26	3234	-		Myeloproliferative disorder(115;0.00878)	Error:Variant_position_missing_in_Q9H579_after_alignment					Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.3143G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.23|13.23	2.175221|2.175221	0.38413|0.38413	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000400441;ENST00000217333	.|T;T	.|0.04234	.|4.07;3.67	5.32|5.32	0.312|0.312	0.15837|0.15837	.|.	.|0.878430	.|0.09964	.|N	.|0.733062	T|T	0.04452|0.04452	0.0122|0.0122	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32829	.|0.267;0.386	.|B;B	.|0.30495	.|0.054;0.116	T|T	0.40459|0.40459	-0.9562|-0.9562	5|10	.|0.48119	.|T	.|0.1	-0.0213|-0.0213	4.2003|4.2003	0.10462|0.10462	0.316:0.4853:0.0:0.1987|0.316:0.4853:0.0:0.1987	.|.	.|1038;872	.|E7ETR9;Q9H579-2	.|.;.	T|D	1065|1038;867	.|ENSP00000383291:G1038D;ENSP00000217333:G867D	.|ENSP00000217333:G867D	A|G	-|-	1|2	0|0	C20orf132|C20orf132	35164520|35164520	0.013000|0.013000	0.17824|0.17824	0.087000|0.087000	0.20705|0.20705	0.252000|0.252000	0.25951|0.25951	0.105000|0.105000	0.15333|0.15333	0.174000|0.174000	0.19809|0.19809	0.555000|0.555000	0.69702|0.69702	GCA|GGC		0.512	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_152503		208	525	0	0	0	0.01441	0	208	525		
PLCG1	5335	broad.mit.edu	37	20	39797452	39797452	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:39797452G>A	ENST00000373271.1	+	21	2830	c.2425G>A	c.(2425-2427)Gag>Aag	p.E809K	PLCG1_ENST00000373272.2_Missense_Mutation_p.E809K|PLCG1_ENST00000244007.3_Missense_Mutation_p.E809K	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	809	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GAGGGAGGACGAGCTGACCTT	0.577																																						uc002xjp.1		NaN																	0				lung(3)|breast(3)|skin(2)	8						c.(2425-2427)GAG>AAG		phospholipase C, gamma 1 isoform b							67.0	57.0	60.0					20																	39797452		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39797452G>A	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2425G>A	20.37:g.39797452G>A	ENSP00000362368:p.Glu809Lys					PLCG1_uc002xjo.1_Missense_Mutation_p.E809K|PLCG1_uc010zwe.1_Missense_Mutation_p.E435K|PLCG1_uc010ggf.2_Missense_Mutation_p.E133K	p.E809K	NM_182811	NP_877963	P19174	PLCG1_HUMAN			21	2546	+		Myeloproliferative disorder(115;0.00878)	809			SH3.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.2425G>A	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405615	0.96051	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.65732	-0.17;-0.17;-0.17	5.82	5.82	0.92795	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Src homology-3 domain (4);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	D	0.87042	0.6079	H	0.97340	3.985	0.80722	D	1	D;D;D;D	0.71674	0.997;0.988;0.998;0.998	P;P;D;D	0.67900	0.875;0.716;0.954;0.924	D	0.90981	0.4827	10	0.87932	D	0	.	20.1054	0.97890	0.0:0.0:1.0:0.0	.	809;385;809;809	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	K	809	ENSP00000244007:E809K;ENSP00000362368:E809K;ENSP00000362369:E809K	ENSP00000244007:E809K	E	+	1	0	PLCG1	39230866	1.000000	0.71417	0.988000	0.46212	0.731000	0.41821	9.869000	0.99810	2.757000	0.94681	0.655000	0.94253	GAG		0.577	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3		NM_182811		37	29	0	0	0	0.00623	0	37	29		
PTPRT	11122	broad.mit.edu	37	20	40790057	40790057	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:40790057C>A	ENST00000373187.1	-	17	2616	c.2617G>T	c.(2617-2619)Gac>Tac	p.D873Y	PTPRT_ENST00000373201.1_Missense_Mutation_p.D863Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.D863Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.D882Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.D876Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.D872Y|PTPRT_ENST00000373198.4_Missense_Mutation_p.D892Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	873					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGCAGCAAGTCAGCCACCCGG	0.597																																						uc002xkg.2		NaN																	0				skin(8)|ovary(7)|lung(5)	20						c.(2617-2619)GAC>TAC		protein tyrosine phosphatase, receptor type, T							73.0	79.0	77.0					20																	40790057		2109	4251	6360	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40790057C>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2617G>T	20.37:g.40790057C>A	ENSP00000362283:p.Asp873Tyr					PTPRT_uc010ggj.2_Missense_Mutation_p.D892Y|PTPRT_uc010ggi.2_Missense_Mutation_p.D76Y	p.D873Y	NM_007050	NP_008981	O14522	PTPRT_HUMAN			17	2801	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	873			Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.2617G>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852652	0.91355	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.66818	-0.5827	10	0.87932	D	0	.	19.0727	0.93147	0.0:1.0:0.0:0.0	.	895;873	O14522-1;O14522	.;PTPRT_HUMAN	Y	872;873;876;882;895;863;863	ENSP00000362286:D872Y;ENSP00000362283:D873Y;ENSP00000362289:D876Y;ENSP00000348408:D882Y;ENSP00000362294:D895Y;ENSP00000362280:D863Y;ENSP00000362297:D863Y	ENSP00000348408:D882Y	D	-	1	0	PTPRT	40223471	1.000000	0.71417	0.992000	0.48379	0.936000	0.57629	7.800000	0.85949	2.487000	0.83934	0.650000	0.86243	GAC		0.597	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1				96	79	1	0	5.25376e-55	0.01441	5.73252e-55	96	79		
EYA2	2139	broad.mit.edu	37	20	45633580	45633580	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:45633580G>C	ENST00000327619.5	+	4	529		c.e4-1		EYA2_ENST00000357410.3_Splice_Site|EYA2_ENST00000317304.6_Splice_Site	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2						DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TTTCCACACAGATCTTGCCCA	0.552																																					Pancreas(120;56 1725 18501 25218 43520)	uc002xsm.2		NaN																	0				ovary(1)	1						c.e4-1		eyes absent 2 isoform a							88.0	92.0	90.0					20																	45633580		2203	4300	6503	SO:0001630	splice_region_variant	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45633580G>C		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.156-1G>C	20.37:g.45633580G>C						EYA2_uc010ghp.2_Splice_Site_p.R52_splice|EYA2_uc002xsn.2_Splice_Site_p.R57_splice|EYA2_uc002xso.2_Splice_Site_p.R52_splice|EYA2_uc002xsp.2_Splice_Site_p.R52_splice|EYA2_uc002xsq.2_Splice_Site_p.R52_splice	p.R52_splice	NM_005244	NP_005235	O00167	EYA2_HUMAN			4	530	+		Myeloproliferative disorder(115;0.0241)						Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Splice_Site	SNP	ENST00000327619.5	37	c.156_splice	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473554	0.63737	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2443	0.89979	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EYA2	45066987	1.000000	0.71417	0.991000	0.47740	0.657000	0.38888	8.569000	0.90744	2.608000	0.88229	0.561000	0.74099	.		0.552	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2		NM_005244	Intron	93	71	0	0	0	0.01441	0	93	71		
ARFGEF2	10564	broad.mit.edu	37	20	47592610	47592610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:47592610G>A	ENST00000371917.4	+	14	1832	c.1832G>A	c.(1831-1833)aGa>aAa	p.R611K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	611					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GACATGGCAAGACGGTGTAGT	0.507																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3		NaN																	0				breast(3)|upper_aerodigestive_tract(1)	4						c.(1831-1833)AGA>AAA		ADP-ribosylation factor guanine							116.0	88.0	98.0					20																	47592610		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47592610G>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1832G>A	20.37:g.47592610G>A	ENSP00000360985:p.Arg611Lys						p.R611K	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		14	1984	+			611					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.1832G>A	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254703	0.80135	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.22134	1.97	5.79	5.79	0.91817	Armadillo-type fold (1);	0.260739	0.42294	N	0.000722	T	0.25082	0.0609	M	0.68317	2.08	0.80722	D	1	P	0.42409	0.779	B	0.39339	0.297	T	0.11036	-1.0604	10	0.06494	T	0.89	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	611	Q9Y6D5	BIG2_HUMAN	K	611	ENSP00000360985:R611K	ENSP00000360985:R611K	R	+	2	0	ARFGEF2	47026017	0.980000	0.34600	0.940000	0.37924	0.353000	0.29299	3.109000	0.50345	2.733000	0.93635	0.655000	0.94253	AGA		0.507	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1		NM_006420		12	85	0	0	0	0.010729	0	12	85		
DIDO1	11083	broad.mit.edu	37	20	61511837	61511837	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:61511837C>G	ENST00000266070.4	-	16	5796	c.5471G>C	c.(5470-5472)aGa>aCa	p.R1824T	DIDO1_ENST00000395343.1_Missense_Mutation_p.R1824T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1824	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGAGGGGCCTCTGCTGTCCCC	0.617																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(5470-5472)AGA>ACA		death inducer-obliterator 1 isoform c							69.0	78.0	75.0					20																	61511837		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511837C>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5471G>C	20.37:g.61511837C>G	ENSP00000266070:p.Arg1824Thr					DIDO1_uc002yds.1_Missense_Mutation_p.R1824T	p.R1824T	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	5735	-	Breast(26;5.68e-08)		1824			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.5471G>C	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130866	0.56828	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.12774	2.65;2.65	4.97	4.97	0.65823	.	0.000000	0.47455	D	0.000227	T	0.26593	0.0650	M	0.63428	1.95	0.80722	D	1	D	0.59357	0.985	P	0.55055	0.767	T	0.00970	-1.1496	10	0.72032	D	0.01	-37.016	11.6935	0.51529	0.0:0.9183:0.0:0.0817	.	1824	Q9BTC0	DIDO1_HUMAN	T	1824	ENSP00000266070:R1824T;ENSP00000378752:R1824T	ENSP00000266070:R1824T	R	-	2	0	DIDO1	60982282	1.000000	0.71417	0.504000	0.27639	0.733000	0.41908	4.152000	0.58111	2.270000	0.75569	0.561000	0.74099	AGA		0.617	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		482	358	0	0	0	0.01441	0	482	358		
CHRNA4	1137	broad.mit.edu	37	20	61981890	61981890	+	Silent	SNP	G	G	C	rs281865067		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:61981890G>C	ENST00000370263.4	-	5	1094	c.873C>G	c.(871-873)ctC>ctG	p.L291L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	291					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TCTCGGTGATGAGCAGCAGGA	0.592																																						uc002yes.2		NaN																	0				central_nervous_system(1)|skin(1)	2	GRCh37	CI972575	CHRNA4	I		c.(871-873)CTC>CTG		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						251.0	184.0	206.0					20																	61981890		2203	4300	6503	SO:0001819	synonymous_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981890G>C		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.873C>G	20.37:g.61981890G>C						CHRNA4_uc002yet.1_Silent_p.L115L|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.L220L|CHRNA4_uc002yev.1_Silent_p.L115L|CHRNA4_uc010gkf.1_Silent_p.L115L	p.L291L	NM_000744	NP_000735	P43681	ACHA4_HUMAN			5	1051	-	all_cancers(38;1.71e-10)		291			Helical; (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	c.873C>G	CCDS13517.1																																																																																				0.592	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3				76	453	0	0	0	0.01441	0	76	453		
ZBTB46	140685	broad.mit.edu	37	20	62421703	62421703	+	Silent	SNP	G	G	A	rs370304894		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:62421703G>A	ENST00000245663.4	-	2	558	c.408C>T	c.(406-408)gaC>gaT	p.D136D	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Silent_p.D136D|ZBTB46_ENST00000302995.2_Silent_p.D136D	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	136					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|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)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CATCTGAGGCGTCCGACTTGA	0.617																																						uc002ygv.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(406-408)GAC>GAT		zinc finger and BTB domain containing 46		A		2,4404	2.1+/-5.4	0,2,2201	42.0	36.0	38.0		408	-2.1	0.1	20		38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZBTB46	NM_025224.3		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		136/590	62421703	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421703G>A	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.408C>T	20.37:g.62421703G>A						ZBTB46_uc002ygu.2_RNA	p.D136D	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN			2	609	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		136					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	c.408C>T	CCDS13538.1																																																																																				0.617	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2		NM_025224		22	151	0	0	0	0.016522	0	22	151		
TMPRSS15	5651	broad.mit.edu	37	21	19715873	19715873	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:19715873C>T	ENST00000284885.3	-	12	1411	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	460	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTCCAATTGTCTCCATAATTT	0.294																																						uc002ykw.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(1378-1380)GAC>AAC		enterokinase precursor							91.0	77.0	82.0					21																	19715873		2201	4292	6493	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19715873C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1378G>A	21.37:g.19715873C>T	ENSP00000284885:p.Asp460Asn						p.D460N	NM_002772	NP_002763	P98073	ENTK_HUMAN			12	1409	-			460			Extracellular (Potential).|MAM.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.1378G>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.587878	0.28268	.	.	ENSG00000154646	ENST00000284885	T	0.01998	4.51	5.33	-4.78	0.03209	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	1.326740	0.04551	N	0.389905	T	0.01835	0.0058	N	0.20986	0.625	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.48281	-0.9049	9	.	.	.	.	8.8415	0.35144	0.0:0.1934:0.4814:0.3252	.	460	P98073	ENTK_HUMAN	N	460	ENSP00000284885:D460N	.	D	-	1	0	TMPRSS15	18637744	0.395000	0.25254	0.064000	0.19789	0.980000	0.70556	-0.114000	0.10757	-0.692000	0.05128	0.557000	0.71058	GAC		0.294	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2		NM_002772		378	71	0	0	0	0.01441	0	378	71		
SETD4	54093	broad.mit.edu	37	21	37429482	37429482	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:37429482C>G	ENST00000399215.1	-	2	1466	c.94G>C	c.(94-96)Gaa>Caa	p.E32Q	SETD4_ENST00000399207.1_Missense_Mutation_p.E32Q|SETD4_ENST00000399201.1_Missense_Mutation_p.E8Q|SETD4_ENST00000399208.2_Missense_Mutation_p.E32Q|SETD4_ENST00000332131.4_Missense_Mutation_p.E32Q|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399205.1_Missense_Mutation_p.E8Q|SETD4_ENST00000399212.1_Missense_Mutation_p.E8Q			Q9NVD3	SETD4_HUMAN	SET domain containing 4	32							methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TCTATAAATTCAGACTTGTGG	0.398																																						uc002yuw.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(94-96)GAA>CAA		SET domain containing 4 isoform a							107.0	102.0	104.0					21																	37429482		2203	4300	6503	SO:0001583	missense	54093							g.chr21:37429482C>G	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.94G>C	21.37:g.37429482C>G	ENSP00000382163:p.Glu32Gln					SETD4_uc002yux.1_Missense_Mutation_p.E8Q|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Missense_Mutation_p.E32Q|SETD4_uc002yuy.2_Missense_Mutation_p.E32Q|SETD4_uc002yuz.2_Missense_Mutation_p.E8Q|SETD4_uc002yva.2_Missense_Mutation_p.E8Q	p.E32Q	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN			2	1467	-			32					B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	c.94G>C	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885324	0.33255	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131;ENST00000399205;ENST00000399208;ENST00000399201;ENST00000399207;ENST00000424303;ENST00000429161;ENST00000446166;ENST00000442559;ENST00000443703	T;T;T;T;T;T;T	0.24151	2.17;2.18;2.17;1.87;1.87;1.87;1.87	5.13	5.13	0.70059	.	0.172174	0.50627	D	0.000113	T	0.21881	0.0527	L	0.48642	1.525	0.46260	D	0.998952	B;B;P;B	0.35011	0.209;0.291;0.48;0.349	B;B;B;B	0.28465	0.034;0.09;0.082;0.041	T	0.03483	-1.1032	10	0.23891	T	0.37	-21.9584	15.3052	0.73987	0.0:1.0:0.0:0.0	.	8;32;8;32	A8MTS1;C9JWV5;Q9NVD3-3;Q9NVD3	.;.;.;SETD4_HUMAN	Q	32;8;32;8;32;8;32;32;32;8;8;32	ENSP00000382163:E32Q;ENSP00000382161:E8Q;ENSP00000329189:E32Q;ENSP00000382156:E8Q;ENSP00000382159:E32Q;ENSP00000382152:E8Q;ENSP00000382158:E32Q	ENSP00000329189:E32Q	E	-	1	0	SETD4	36351352	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	3.902000	0.56310	2.402000	0.81655	0.655000	0.94253	GAA		0.398	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1		NM_017438		25	106	0	0	0	0.00333	0	25	106		
BRWD1	54014	broad.mit.edu	37	21	40578084	40578084	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:40578084G>C	ENST00000333229.2	-	37	4641	c.4314C>G	c.(4312-4314)ttC>ttG	p.F1438L	BRWD1_ENST00000380800.3_Missense_Mutation_p.F1438L|BRWD1_ENST00000342449.3_Missense_Mutation_p.F1438L	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1438					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCCGTTGCTTGAACCTCTGGC	0.318																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NaN																	0				skin(3)|ovary(1)	4						c.(4312-4314)TTC>TTG		bromodomain and WD repeat domain containing 1							124.0	129.0	127.0					21																	40578084		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40578084G>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4314C>G	21.37:g.40578084G>C	ENSP00000330753:p.Phe1438Leu					BRWD1_uc010goc.1_Missense_Mutation_p.F81L|BRWD1_uc002yxl.2_Missense_Mutation_p.F1438L|BRWD1_uc010god.1_Missense_Mutation_p.F356L	p.F1438L	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			37	4453	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1438					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4314C>G	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.967|3.967	-0.009109|-0.009109	0.07727|0.07727	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	T;T;T|.	0.53206|.	0.63;0.66;0.73|.	4.87|4.87	0.363|0.363	0.16118|0.16118	.|.	0.177962|.	0.39475|.	N|.	0.001355|.	T|T	0.56702|0.56702	0.2003|0.2003	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	B;B;B|.	0.28178|.	0.202;0.035;0.005|.	B;B;B|.	0.33454|.	0.164;0.045;0.006|.	T|T	0.50474|0.50474	-0.8824|-0.8824	10|5	0.11485|.	T|.	0.65|.	-4.8109|-4.8109	5.2198|5.2198	0.15362|0.15362	0.3784:0.0:0.4847:0.1369|0.3784:0.0:0.4847:0.1369	.|.	1438;1438;1438|.	Q9NSI6-3;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	L|E	1438;1438;1438;394|376	ENSP00000330753:F1438L;ENSP00000344333:F1438L;ENSP00000370178:F1438L|.	ENSP00000330753:F1438L|.	F|Q	-|-	3|1	2|0	BRWD1|BRWD1	39499954|39499954	0.134000|0.134000	0.22483|0.22483	0.966000|0.966000	0.40874|0.40874	0.557000|0.557000	0.35523|0.35523	-0.411000|-0.411000	0.07142|0.07142	0.143000|0.143000	0.18926|0.18926	0.561000|0.561000	0.74099|0.74099	TTC|CAA		0.318	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656		55	230	0	0	0	0.01441	0	55	230		
COL6A2	1292	broad.mit.edu	37	21	47531978	47531978	+	Silent	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:47531978C>G	ENST00000300527.4	+	3	305	c.201C>G	c.(199-201)ctC>ctG	p.L67L	COL6A2_ENST00000357838.4_Silent_p.L67L|COL6A2_ENST00000397763.1_Silent_p.L67L|COL6A2_ENST00000409416.1_Silent_p.L67L|COL6A2_ENST00000310645.5_Silent_p.L67L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	67	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACATCCTGCTCTTCCACATGA	0.617																																						uc002zia.1		NaN																	0				central_nervous_system(7)|ovary(1)	8						c.(199-201)CTC>CTG		alpha 2 type VI collagen isoform 2C2 precursor							103.0	72.0	82.0					21																	47531978		2203	4300	6503	SO:0001819	synonymous_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47531978C>G	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.201C>G	21.37:g.47531978C>G						COL6A2_uc002zhy.1_Silent_p.L67L|COL6A2_uc002zhz.1_Silent_p.L67L|COL6A2_uc002zib.1_Intron	p.L67L	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	283	+	Breast(49;0.245)		67			VWFA 1.|Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.201C>G	CCDS13728.1																																																																																				0.617	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1				53	179	0	0	0	0.01441	0	53	179		
CCT8L2	150160	broad.mit.edu	37	22	17072001	17072001	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:17072001C>T	ENST00000359963.3	-	1	1699	c.1440G>A	c.(1438-1440)gtG>gtA	p.V480V		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	480					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)			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)				CTTCAGTTCCCACACCCATTA	0.512																																						uc002zlp.1		NaN																	0				ovary(1)	1						c.(1438-1440)GTG>GTA		T-complex protein 1							145.0	141.0	143.0					22																	17072001		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072001C>T	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.1440G>A	22.37:g.17072001C>T							p.V480V	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	1700	-	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)	480					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.1440G>A	CCDS13738.1																																																																																				0.512	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1				118	225	0	0	0	0.01441	0	118	225		
TXNRD2	10587	broad.mit.edu	37	22	19870908	19870908	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:19870908C>T	ENST00000400521.1	-	12	1032	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	TXNRD2_ENST00000400518.1_Silent_p.L312L|TXNRD2_ENST00000542719.1_Silent_p.L312L|TXNRD2_ENST00000535882.1_Silent_p.L341L|TXNRD2_ENST00000400519.1_Silent_p.L341L	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	342					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GGGAGTCCACCAGGATCTTCT	0.617																																						uc011ahc.1		NaN																	0				ovary(2)	2						c.(1024-1026)CTG>CTA		thioredoxin reductase 2 precursor							118.0	135.0	129.0					22																	19870908		1993	4162	6155	SO:0001819	synonymous_variant	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19870908C>T	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1026G>A	22.37:g.19870908C>T						TXNRD2_uc002zql.1_Silent_p.L96L|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.L341L|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_5'Flank	p.L342L	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN			12	1059	-	Colorectal(54;0.0993)		342					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	37	c.1026G>A	CCDS42981.1																																																																																				0.617	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3		NM_006440		148	217	0	0	0	0.01441	0	148	217		
TRMT2A	27037	broad.mit.edu	37	22	20100675	20100675	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:20100675G>A	ENST00000252136.7	-	10	1903	c.1515C>T	c.(1513-1515)ctC>ctT	p.L505L	TRMT2A_ENST00000439169.2_Silent_p.L523L|AC006547.8_ENST00000412713.1_RNA|TRMT2A_ENST00000403707.3_Silent_p.L505L|TRMT2A_ENST00000492988.1_5'UTR|RANBP1_ENST00000430524.1_5'Flank|TRMT2A_ENST00000404751.3_Silent_p.L505L	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	505					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)	p.L505L(1)		breast(2)|endometrium(2)|lung(5)	9						GGATGGCCACGAGGTGCTGGG	0.612																																						uc002zrk.1		NaN																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1513-1515)CTC>CTT		HpaII tiny fragments locus 9C							49.0	53.0	51.0					22																	20100675		2203	4300	6503	SO:0001819	synonymous_variant	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20100675G>A	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.1515C>T	22.37:g.20100675G>A						TRMT2A_uc002zrl.1_Silent_p.L505L|TRMT2A_uc002zrm.1_Silent_p.L327L|TRMT2A_uc002zrn.1_Silent_p.L523L	p.L505L	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN			11	1730	-			505					D3DX25|Q32P57|Q96ME6|Q9H732	Silent	SNP	ENST00000252136.7	37	c.1515C>T	CCDS13774.1																																																																																				0.612	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3		NM_022727		88	172	0	0	0	0.01441	0	88	172		
LARGE	9215	broad.mit.edu	37	22	33777913	33777913	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:33777913C>A	ENST00000354992.2	-	10	1694	c.1123G>T	c.(1123-1125)Gat>Tat	p.D375Y	LARGE_ENST00000437602.2_Missense_Mutation_p.D375Y|LARGE_ENST00000337431.2_Missense_Mutation_p.D375Y|LARGE_ENST00000397394.2_Missense_Mutation_p.D375Y|LARGE_ENST00000452586.2_Missense_Mutation_p.D174Y|LARGE_ENST00000402320.1_Missense_Mutation_p.D375Y	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	375					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ACCTTTAGATCAGACACGTCT	0.562																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1123-1125)GAT>TAT		like-glycosyltransferase							137.0	134.0	135.0					22																	33777913		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33777913C>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1123G>T	22.37:g.33777913C>A	ENSP00000347088:p.Asp375Tyr					LARGE_uc011amd.1_Missense_Mutation_p.D174Y|LARGE_uc003ane.3_Missense_Mutation_p.D375Y|LARGE_uc010gwp.2_Missense_Mutation_p.D375Y|LARGE_uc011ame.1_Missense_Mutation_p.D307Y|LARGE_uc011amf.1_Missense_Mutation_p.D375Y|LARGE_uc010gwq.1_RNA	p.D375Y	NM_004737	NP_004728	O95461	LARGE_HUMAN			10	1702	-		Lung NSC(1;0.219)	375			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.1123G>T	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827784	0.90955	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000445431;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602;ENST00000421768	T;T;T;T;T;T;T	0.44881	1.87;0.91;1.87;0.91;1.87;1.87;1.87	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	M	0.83603	2.65	0.80722	D	1	D;P;P;P	0.63880	0.993;0.917;0.903;0.845	D;P;P;P	0.65233	0.933;0.847;0.866;0.797	T	0.73282	-0.4032	10	0.72032	D	0.01	-0.0114	18.5375	0.91015	0.0:1.0:0.0:0.0	.	375;174;375;375	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	Y	52;52;52;375;375;375;375;174;375;174	ENSP00000347088:D375Y;ENSP00000336636:D375Y;ENSP00000380549:D375Y;ENSP00000385223:D375Y;ENSP00000407917:D174Y;ENSP00000388544:D375Y;ENSP00000403841:D174Y	ENSP00000336636:D375Y	D	-	1	0	LARGE	32107913	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.330000	0.79181	2.444000	0.82710	0.563000	0.77884	GAT		0.562	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2		NM_133642		30	145	1	0	3.57733e-08	0.009535	3.69928e-08	30	145		
LARGE	9215	broad.mit.edu	37	22	33780253	33780253	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:33780253C>A	ENST00000354992.2	-	9	1501	c.930G>T	c.(928-930)atG>atT	p.M310I	LARGE_ENST00000437602.2_Missense_Mutation_p.M310I|LARGE_ENST00000337431.2_Missense_Mutation_p.M310I|LARGE_ENST00000397394.2_Missense_Mutation_p.M310I|LARGE_ENST00000452586.2_Missense_Mutation_p.M109I|LARGE_ENST00000402320.1_Missense_Mutation_p.M310I	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	310					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCTCCCATTTCATCTTCCGCA	0.493																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(928-930)ATG>ATT		like-glycosyltransferase							133.0	114.0	121.0					22																	33780253		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33780253C>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.930G>T	22.37:g.33780253C>A	ENSP00000347088:p.Met310Ile					LARGE_uc011amd.1_Missense_Mutation_p.M109I|LARGE_uc003ane.3_Missense_Mutation_p.M310I|LARGE_uc010gwp.2_Missense_Mutation_p.M310I|LARGE_uc011ame.1_Missense_Mutation_p.M242I|LARGE_uc011amf.1_Missense_Mutation_p.M310I|LARGE_uc010gwq.1_RNA	p.M310I	NM_004737	NP_004728	O95461	LARGE_HUMAN			9	1509	-		Lung NSC(1;0.219)	310			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.930G>T	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733887	0.30684	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602;ENST00000421768	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.36	5.36	0.76844	.	0.042452	0.85682	D	0.000000	T	0.31167	0.0788	N	0.17838	0.53	0.58432	D	0.999998	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.07693	-1.0759	9	.	.	.	-4.2931	19.4661	0.94943	0.0:1.0:0.0:0.0	.	310;109;310;310	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	I	310;310;310;310;109;310;109	ENSP00000347088:M310I;ENSP00000336636:M310I;ENSP00000380549:M310I;ENSP00000385223:M310I;ENSP00000407917:M109I;ENSP00000388544:M310I;ENSP00000403841:M109I	.	M	-	3	0	LARGE	32110253	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.030000	0.30153	2.653000	0.90120	0.563000	0.77884	ATG		0.493	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2		NM_133642		60	101	1	0	1.31726e-23	0.01441	1.40364e-23	60	101		
NOL12	79159	broad.mit.edu	37	22	38087186	38087186	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:38087186C>G	ENST00000359114.4	+	6	555	c.485C>G	c.(484-486)tCc>tGc	p.S162C	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	162						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CCTAGGATCTCCTCCCTCACA	0.577																																						uc003atp.2		NaN																	0					0						c.(484-486)TCC>TGC		nucleolar protein 12							110.0	89.0	96.0					22																	38087186		2203	4300	6503	SO:0001583	missense	79159					nucleolus	rRNA binding	g.chr22:38087186C>G	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.485C>G	22.37:g.38087186C>G	ENSP00000352021:p.Ser162Cys					NOL12_uc011anm.1_3'UTR|NOL12_uc003ato.1_RNA|TRIOBP_uc003atq.1_5'UTR	p.S162C	NM_024313	NP_077289	Q9UGY1	NOL12_HUMAN			6	541	+	Melanoma(58;0.0574)		162						Missense_Mutation	SNP	ENST00000359114.4	37	c.485C>G	CCDS13955.1	.	.	.	.	.	.	.	.	.	.	C	7.757	0.704636	0.15172	.	.	ENSG00000256872	ENST00000359114	D	0.84442	-1.85	6.11	3.95	0.45737	.	0.279809	0.42294	N	0.000735	T	0.77772	0.4180	L	0.27053	0.805	0.36863	D	0.888511	B	0.10296	0.003	B	0.11329	0.006	T	0.74077	-0.3781	10	0.45353	T	0.12	-1.7173	15.1532	0.72717	0.0:0.7335:0.2665:0.0	.	162	Q9UGY1	NOL12_HUMAN	C	162	ENSP00000352021:S162C	ENSP00000352021:S162C	S	+	2	0	Z83844.2	36417132	0.940000	0.31905	0.938000	0.37757	0.024000	0.10985	1.609000	0.36858	0.841000	0.35020	0.655000	0.94253	TCC		0.577	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1		NM_024313		67	141	0	0	0	0.01441	0	67	141		
SCO2	9997	broad.mit.edu	37	22	50962178	50962178	+	Silent	SNP	G	G	T	rs371871208		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:50962178G>T	ENST00000543927.1	-	2	869	c.663C>A	c.(661-663)atC>atA	p.I221I	CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000252785.3_Silent_p.I221I|SCO2_ENST00000395693.3_Silent_p.I221I|SCO2_ENST00000535425.1_Silent_p.I221I	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	221	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGTGGTCCACGATGTAGTCCT	0.572																																						uc003bma.2		NaN																	0					0						c.(661-663)ATC>ATA		cytochrome oxidase deficient homolog 2							229.0	193.0	205.0					22																	50962178		2203	4300	6503	SO:0001819	synonymous_variant	9997				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr22:50962178G>T	AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"""Mitochondrial respiratory chain complex assembly factors"""	10604	protein-coding gene	gene with protein product		604272	"""SCO (cytochrome oxidase deficient, yeast) homolog 2"", ""SCO cytochrome oxidase deficient homolog 2 (yeast)"", ""myopia 6"""	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.663C>A	22.37:g.50962178G>T						SCO2_uc003blz.3_Silent_p.I221I	p.I221I	NM_005138	NP_005129	O43819	SCO2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	839	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	221			Thioredoxin.		Q3T1B5|Q9UK87	Silent	SNP	ENST00000543927.1	37	c.663C>A	CCDS14095.1																																																																																				0.572	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317091.1		NM_005138		75	433	1	0	4.83248e-46	0.01441	5.24769e-46	75	433		
SEC13	6396	broad.mit.edu	37	3	10354378	10354378	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:10354378G>A	ENST00000350697.3	-	4	326	c.201C>T	c.(199-201)caC>caT	p.H67H	SEC13_ENST00000397109.3_Silent_p.H53H|SEC13_ENST00000337354.4_Silent_p.H70H|SEC13_ENST00000397117.1_Silent_p.H53H|SEC13_ENST00000383801.2_Silent_p.H113H	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	67					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CGTACATGGGGTGAGCCCAGG	0.562																																						uc003bvn.2		NaN																	0				ovary(1)	1						c.(199-201)CAC>CAT		SEC13 protein isoform 1							121.0	112.0	115.0					3																	10354378		2203	4300	6503	SO:0001819	synonymous_variant	6396				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	g.chr3:10354378G>A		CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"""WD repeat domain containing"""	10697	protein-coding gene	gene with protein product		600152	"""SEC13 (S. cerevisiae)-like 1"", ""SEC13-like 1 (S. cerevisiae)"""	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.201C>T	3.37:g.10354378G>A						SEC13_uc003bvl.2_5'UTR|SEC13_uc003bvm.2_Silent_p.H53H|SEC13_uc003bvp.2_Silent_p.H70H|SEC13_uc003bvo.2_Silent_p.H113H|SEC13_uc003bvq.1_Silent_p.H53H|SEC13_uc003bvr.1_Silent_p.H53H|SEC13_uc011aul.1_Silent_p.H67H	p.H67H	NM_183352	NP_899195	P55735	SEC13_HUMAN			4	320	-			67			WD 2.		A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Silent	SNP	ENST00000350697.3	37	c.201C>T	CCDS2599.1																																																																																				0.562	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250563.3				28	180	0	0	0	0.010818	0	28	180		
LAMB2	3913	broad.mit.edu	37	3	49169709	49169709	+	Missense_Mutation	SNP	C	C	G	rs1131783		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:49169709C>G	ENST00000418109.1	-	4	543	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	LAMB2_ENST00000305544.4_Missense_Mutation_p.E127Q	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	127	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCACCATTCTCTGACTGCCAC	0.602																																						uc003cwe.2		NaN																	0				ovary(3)	3						c.(379-381)GAG>CAG		laminin, beta 2 precursor							60.0	65.0	63.0					3																	49169709		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49169709C>G		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.379G>C	3.37:g.49169709C>G	ENSP00000388325:p.Glu127Gln					LAMB2_uc003cwf.1_Missense_Mutation_p.E127Q	p.E127Q	NM_002292	NP_002283	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	3	678	-			127			Laminin N-terminal.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.379G>C	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.884948	0.72410	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.77098	-1.07;-1.07	4.96	4.96	0.65561	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.85703	0.5758	L	0.60957	1.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84483	0.0606	10	0.38643	T	0.18	.	17.144	0.86761	0.0:1.0:0.0:0.0	rs1131783	127	P55268	LAMB2_HUMAN	Q	127	ENSP00000388325:E127Q;ENSP00000307156:E127Q	ENSP00000307156:E127Q	E	-	1	0	LAMB2	49144713	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	5.578000	0.67450	2.595000	0.87683	0.655000	0.94253	GAG		0.602	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1		NM_002292		61	35	0	0	0	0.01441	0	61	35		
CCDC71	64925	broad.mit.edu	37	3	49201104	49201104	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:49201104C>G	ENST00000321895.6	-	2	644	c.538G>C	c.(538-540)Gag>Cag	p.E180Q		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	180										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCAGGGCCTCAAGGACAACA	0.587																																						uc003cwg.3		NaN																	0				ovary(1)	1						c.(538-540)GAG>CAG		coiled-coil domain containing 71							56.0	61.0	59.0					3																	49201104		2203	4300	6503	SO:0001583	missense	64925							g.chr3:49201104C>G	AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.538G>C	3.37:g.49201104C>G	ENSP00000319006:p.Glu180Gln						p.E180Q	NM_022903	NP_075054	Q8IV32	CCD71_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	676	-			180					Q6IPE2|Q9H8H4|Q9H9F1	Missense_Mutation	SNP	ENST00000321895.6	37	c.538G>C	CCDS2790.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175722	0.57692	.	.	ENSG00000177352	ENST00000321895	T	0.38401	1.14	5.44	5.44	0.79542	.	0.147304	0.44688	D	0.000427	T	0.61324	0.2338	M	0.68952	2.095	0.40122	D	0.976619	D	0.89917	1.0	D	0.87578	0.998	T	0.64791	-0.6324	10	0.87932	D	0	-14.9245	19.2503	0.93921	0.0:1.0:0.0:0.0	.	180	Q8IV32	CCD71_HUMAN	Q	180	ENSP00000319006:E180Q	ENSP00000319006:E180Q	E	-	1	0	CCDC71	49176108	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.108000	0.64609	2.565000	0.86533	0.585000	0.79938	GAG		0.587	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1		NM_022903		118	58	0	0	0	0.01441	0	118	58		
ZPLD1	131368	broad.mit.edu	37	3	102195877	102195877	+	Missense_Mutation	SNP	C	C	T	rs369331610		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:102195877C>T	ENST00000491959.1	+	17	1946	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	ZPLD1_ENST00000466937.1_Missense_Mutation_p.S355L|ZPLD1_ENST00000306176.1_Missense_Mutation_p.S371L			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	355						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACCAACAATTCGCAACTTGGT	0.308																																						uc003dvs.1		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1063-1065)TCG>TTG		zona pellucida-like domain containing 1		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	151.0	161.0	158.0		1112	5.7	1.0	3		158	0,8600		0,0,4300	no	missense	ZPLD1	NM_175056.1	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	371/432	102195877	1,13005	2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102195877C>T	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.1064C>T	3.37:g.102195877C>T	ENSP00000420265:p.Ser355Leu					ZPLD1_uc003dvt.1_Missense_Mutation_p.S371L|ZPLD1_uc011bhg.1_Missense_Mutation_p.S355L	p.S355L	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN			17	1946	+			355			Extracellular (Potential).		Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.1064C>T		.	.	.	.	.	.	.	.	.	.	C	30	5.056229	0.93793	2.27E-4	0.0	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	T;T;T	0.81163	-1.44;-1.46;-1.44	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.85673	0.5751	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.77557	0.99;0.543	D	0.84882	0.0831	10	0.46703	T	0.11	-11.522	20.1608	0.98132	0.0:1.0:0.0:0.0	.	371;355	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	L	355;371;355	ENSP00000420265:S355L;ENSP00000307801:S371L;ENSP00000418253:S355L	ENSP00000307801:S371L	S	+	2	0	ZPLD1	103678567	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.384000	0.79751	2.843000	0.97960	0.591000	0.81541	TCG		0.308	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1		NM_175056		41	93	0	0	0	0.013114	0	41	93		
PLCXD2	257068	broad.mit.edu	37	3	111394145	111394145	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:111394145C>A	ENST00000477665.1	+	1	377	c.53C>A	c.(52-54)tCc>tAc	p.S18Y	PLCXD2-AS1_ENST00000493131.1_RNA|PLCXD2_ENST00000393934.3_Missense_Mutation_p.S18Y	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	18					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ACCATCTGCTCCCCCAACCCC	0.582																																						uc003dya.2		NaN																	0				skin(1)	1						c.(52-54)TCC>TAC		phosphatidylinositol-specific phospholipase C, X							144.0	128.0	133.0					3																	111394145		2203	4300	6503	SO:0001583	missense	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111394145C>A	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.53C>A	3.37:g.111394145C>A	ENSP00000420686:p.Ser18Tyr					PLCXD2_uc003dyb.2_Missense_Mutation_p.S18Y|PLCXD2_uc003dxz.2_Missense_Mutation_p.S18Y	p.S18Y	NM_001134478	NP_001127950	Q0VAA5	PLCX2_HUMAN			1	639	+			18					Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.53C>A	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975012	0.74360	.	.	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.50820	0.1638	N	0.14661	0.345	0.34874	D	0.743886	D;D	0.65815	0.995;0.994	D;D	0.77004	0.986;0.989	T	0.42999	-0.9418	8	0.02654	T	1	-18.9901	14.8729	0.70471	0.0:1.0:0.0:0.0	.	18;18	Q0VAA5;Q0VAA5-2	PLCX2_HUMAN;.	Y	18	.	ENSP00000377511:S18Y	S	+	2	0	PLCXD2	112876835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.347000	0.52200	2.885000	0.99019	0.655000	0.94253	TCC		0.582	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1		NM_153268		30	179	1	0	3.90053e-15	0.012213	4.1273e-15	30	179		
KIAA2018	205717	broad.mit.edu	37	3	113379606	113379606	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:113379606G>A	ENST00000478658.1	-	5	940	c.923C>T	c.(922-924)tCa>tTa	p.S308L	KIAA2018_ENST00000316407.4_Missense_Mutation_p.S308L|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	308						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						GGCAGTTGCTGAGGAGCTGTG	0.413																																						uc003eam.2		NaN																	0				skin(2)|ovary(1)	3						c.(922-924)TCA>TTA		hypothetical protein LOC205717							79.0	78.0	78.0					3																	113379606		1920	4132	6052	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113379606G>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.923C>T	3.37:g.113379606G>A	ENSP00000420721:p.Ser308Leu					KIAA2018_uc003eal.2_Missense_Mutation_p.S252L	p.S308L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	1334	-			308					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.923C>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754515	0.31046	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.19532	2.14;2.14	5.68	5.68	0.88126	.	0.102871	0.47455	D	0.000222	T	0.28134	0.0694	L	0.29908	0.895	0.54753	D	0.999985	D	0.59767	0.986	P	0.51582	0.674	T	0.00692	-1.1607	10	0.48119	T	0.1	-13.1202	19.7849	0.96432	0.0:0.0:1.0:0.0	.	308	Q68DE3	K2018_HUMAN	L	308	ENSP00000320794:S308L;ENSP00000420721:S308L	ENSP00000320794:S308L	S	-	2	0	KIAA2018	114862296	0.998000	0.40836	0.998000	0.56505	0.182000	0.23217	2.959000	0.49153	2.671000	0.90904	0.650000	0.86243	TCA		0.413	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1		NM_001009899		50	77	0	0	0	0.01441	0	50	77		
POGLUT1	56983	broad.mit.edu	37	3	119209463	119209463	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:119209463C>A	ENST00000295588.4	+	9	947	c.863C>A	c.(862-864)tCa>tAa	p.S288*		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	288					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						CTGTGTGGCTCACTTGTTTTC	0.413																																						uc003ecm.2		NaN																	0					0						c.(862-864)TCA>TAA		KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor							189.0	172.0	177.0					3																	119209463		2203	4300	6503	SO:0001587	stop_gained	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119209463C>A	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.863C>A	3.37:g.119209463C>A	ENSP00000295588:p.Ser288*					KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Nonsense_Mutation_p.S129*	p.S288*	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN		GBM - Glioblastoma multiforme(114;0.233)	9	947	+			288					B2RD13|Q53GJ4|Q8N2T1	Nonsense_Mutation	SNP	ENST00000295588.4	37	c.863C>A	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310262	0.95629	.	.	ENSG00000163389	ENST00000295588	.	.	.	6.16	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7284	11.9748	0.53085	0.0:0.9188:0.0:0.0812	.	.	.	.	X	288	.	ENSP00000295588:S288X	S	+	2	0	POGLUT1	120692153	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.126000	0.77201	2.937000	0.99478	0.650000	0.86243	TCA		0.413	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2		NM_152305		37	215	1	0	3.76114e-14	0.004289	3.97057e-14	37	215		
EEFSEC	60678	broad.mit.edu	37	3	128126998	128126998	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:128126998G>A	ENST00000254730.6	+	7	1741	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	EEFSEC_ENST00000483457.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	563					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CACCAGGCAGGAGGAGAGCGC	0.642																																						uc003eki.2		NaN																	0				ovary(1)	1						c.(1687-1689)GAG>AAG		eukaryotic elongation factor,							81.0	68.0	73.0					3																	128126998		2203	4299	6502	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:128126998G>A		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.1687G>A	3.37:g.128126998G>A	ENSP00000254730:p.Glu563Lys					EEFSEC_uc003ekj.2_3'UTR	p.E563K	NM_021937	NP_068756	P57772	SELB_HUMAN			7	1725	+			563					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.1687G>A	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802871	0.31869	.	.	ENSG00000132394	ENST00000254730	T	0.45668	0.89	4.79	4.79	0.61399	.	0.237508	0.41396	D	0.000881	T	0.36663	0.0975	L	0.40543	1.245	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.15009	-1.0452	10	0.44086	T	0.13	-16.4675	16.0137	0.80422	0.0:0.0:1.0:0.0	.	563	P57772	SELB_HUMAN	K	563	ENSP00000254730:E563K	ENSP00000254730:E563K	E	+	1	0	EEFSEC	129609688	1.000000	0.71417	0.993000	0.49108	0.105000	0.19272	5.931000	0.70113	2.206000	0.71126	0.460000	0.39030	GAG		0.642	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2		NM_021937		101	123	0	0	0	0.01441	0	101	123		
PCOLCE2	26577	broad.mit.edu	37	3	142539827	142539827	+	Missense_Mutation	SNP	G	G	C	rs2304735		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:142539827G>C	ENST00000295992.3	-	8	1316	c.1010C>G	c.(1009-1011)tCg>tGg	p.S337W	PCOLCE2_ENST00000485766.1_Silent_p.L257L	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	337	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTTGATGATCGAGACTGTGGC	0.502																																						uc003evd.2		NaN																	0				ovary(2)|skin(1)	3						c.(1009-1011)TCG>TGG		procollagen C-endopeptidase enhancer 2							134.0	116.0	122.0					3																	142539827		2203	4300	6503	SO:0001583	missense	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142539827G>C	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.1010C>G	3.37:g.142539827G>C	ENSP00000295992:p.Ser337Trp						p.S337W	NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN			8	1206	-			337			NTR.		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.1010C>G	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324493	0.81580	.	.	ENSG00000163710	ENST00000295992	T	0.24151	1.87	5.42	5.42	0.78866	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.059709	0.64402	D	0.000001	T	0.56441	0.1985	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61471	-0.7056	10	0.87932	D	0	-16.7905	19.205	0.93726	0.0:0.0:1.0:0.0	.	337	Q9UKZ9	PCOC2_HUMAN	W	337	ENSP00000295992:S337W	ENSP00000295992:S337W	S	-	2	0	PCOLCE2	144022517	1.000000	0.71417	0.526000	0.27913	0.686000	0.39977	9.410000	0.97335	2.523000	0.85059	0.655000	0.94253	TCG		0.502	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1		NM_013363		29	48	0	0	0	0.008361	0	29	48		
ZIC1	7545	broad.mit.edu	37	3	147130454	147130454	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:147130454C>T	ENST00000282928.4	+	2	1861	c.1132C>T	c.(1132-1134)Cgc>Tgc	p.R378C		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	378					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|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)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CAGTTCGCTGCGCAAACACAT	0.597																																						uc003ewe.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1132-1134)CGC>TGC		zinc finger protein of the cerebellum 1							143.0	110.0	121.0					3																	147130454		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147130454C>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1132C>T	3.37:g.147130454C>T	ENSP00000282928:p.Arg378Cys						p.R378C	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			2	1851	+			378			C2H2-type 5.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.1132C>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.423785	0.62733	.	.	ENSG00000152977	ENST00000282928	T	0.07688	3.17	4.12	3.11	0.35812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.25606	0.0623	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04229	-1.0967	10	0.87932	D	0	.	13.807	0.63238	0.2647:0.7353:0.0:0.0	.	378	Q15915	ZIC1_HUMAN	C	378	ENSP00000282928:R378C	ENSP00000282928:R378C	R	+	1	0	ZIC1	148613144	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	1.336000	0.33850	1.846000	0.53633	0.462000	0.41574	CGC		0.597	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1		NM_003412		61	396	0	0	0	0.01441	0	61	396		
SLC33A1	9197	broad.mit.edu	37	3	155546144	155546144	+	Missense_Mutation	SNP	G	G	A	rs149578822		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:155546144G>A	ENST00000392845.3	-	6	1885	c.1505C>T	c.(1504-1506)tCa>tTa	p.S502L	SLC33A1_ENST00000359479.3_Missense_Mutation_p.S502L			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	502					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGTAACACATGAGCCACCCAG	0.313																																						uc003fan.3		NaN																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1504-1506)TCA>TTA		acetyl-coenzyme A transporter		G	LEU/SER,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	47.0	46.0	46.0		1505,1505	3.9	0.9	3	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC33A1	NM_001190992.1,NM_004733.3	145,145	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign,benign	502/550,502/550	155546144	3,13003	2203	4300	6503	SO:0001583	missense	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155546144G>A	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.1505C>T	3.37:g.155546144G>A	ENSP00000376587:p.Ser502Leu					SLC33A1_uc003fao.1_Missense_Mutation_p.S502L	p.S502L	NM_004733	NP_004724	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		6	1886	-			502			Cytoplasmic (Potential).		B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	c.1505C>T	CCDS3173.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.23	2.175046	0.38413	4.54E-4	1.16E-4	ENSG00000169359	ENST00000392845;ENST00000359479;ENST00000496772	T;T;T	0.72051	-0.62;-0.62;-0.62	5.78	3.93	0.45458	Major facilitator superfamily domain, general substrate transporter (1);	0.300009	0.37483	N	0.002071	T	0.61874	0.2382	L	0.44542	1.39	0.41999	D	0.990885	B	0.17465	0.022	B	0.21546	0.035	T	0.58875	-0.7559	10	0.33141	T	0.24	-6.0257	11.7609	0.51903	0.0669:0.1232:0.8099:0.0	.	502	O00400	ACATN_HUMAN	L	502;502;138	ENSP00000376587:S502L;ENSP00000352456:S502L;ENSP00000419165:S138L	ENSP00000352456:S502L	S	-	2	0	SLC33A1	157028838	1.000000	0.71417	0.870000	0.34147	0.997000	0.91878	3.844000	0.55873	1.460000	0.47911	0.650000	0.86243	TCA		0.313	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3		NM_004733		51	55	0	0	0	0.01441	0	51	55		
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:178928079G>C	ENST00000263967.3	+	8	1514	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> Q (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).|Missing (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCATGGATTAGAAGATTTGCT	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		19	Substitution - Missense(16)|Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.E453K(5)|p.E453Q(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)|p.E453del(1)	endometrium(8)|breast(6)|lung(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1357-1359)GAA>CAA		phosphoinositide-3-kinase, catalytic, alpha							137.0	130.0	132.0					3																	178928079		1829	4090	5919	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928079G>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1357G>C	3.37:g.178928079G>C	ENSP00000263967:p.Glu453Gln	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E453Q	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1514	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		453		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).	C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1357G>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316818	0.81469	.	.	ENSG00000121879	ENST00000263967	T	0.71461	-0.57	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.71626	0.3362	L	0.55481	1.735	0.80722	D	1	B	0.32324	0.364	B	0.38106	0.265	T	0.66925	-0.5800	10	0.27785	T	0.31	-22.2286	19.6973	0.96031	0.0:0.0:1.0:0.0	.	453	P42336	PK3CA_HUMAN	Q	453	ENSP00000263967:E453Q	ENSP00000263967:E453Q	E	+	1	0	PIK3CA	180410773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.448000	0.97600	2.674000	0.91012	0.655000	0.94253	GAA		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				82	74	0	0	0	0.01441	0	82	74		
MCCC1	56922	broad.mit.edu	37	3	182759419	182759419	+	Silent	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:182759419T>C	ENST00000265594.4	-	11	1349	c.1203A>G	c.(1201-1203)ccA>ccG	p.P401P	MCCC1_ENST00000539926.1_Silent_p.P266P|MCCC1_ENST00000492597.1_Silent_p.P292P	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	401	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GGTGCACTAATGGGCCTGCCA	0.458																																						uc003fle.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1201-1203)CCA>CCG		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)						127.0	128.0	128.0					3																	182759419		2203	4300	6503	SO:0001819	synonymous_variant	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182759419T>C	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1203A>G	3.37:g.182759419T>C						MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Silent_p.P284P|MCCC1_uc003flg.2_Silent_p.P292P|MCCC1_uc011bqp.1_Silent_p.P354P	p.P401P	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		11	1340	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		401			Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Silent	SNP	ENST00000265594.4	37	c.1203A>G	CCDS3241.1																																																																																				0.458	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1		NM_020166		71	99	0	0	0	0.01441	0	71	99		
EIF4G1	1981	broad.mit.edu	37	3	184041700	184041700	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:184041700G>C	ENST00000346169.2	+	16	2678	c.2407G>C	c.(2407-2409)Gag>Cag	p.E803Q	EIF4G1_ENST00000392537.2_Missense_Mutation_p.E716Q|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E803Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E810Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E608Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E640Q|EIF4G1_ENST00000342981.4_Missense_Mutation_p.E804Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E810Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E763Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E607Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E639Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E810Q|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E764Q|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E717Q	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	803	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTCATTTTTGAGAAGGCCAT	0.517																																						uc003fnp.2		NaN																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2407-2409)GAG>CAG		eukaryotic translation initiation factor 4							91.0	87.0	88.0					3																	184041700		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184041700G>C	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2407G>C	3.37:g.184041700G>C	ENSP00000316879:p.Glu803Gln					EIF4G1_uc003fno.1_Missense_Mutation_p.E744Q|EIF4G1_uc010hxw.1_Missense_Mutation_p.E639Q|EIF4G1_uc003fnt.2_Missense_Mutation_p.E514Q|EIF4G1_uc003fnq.2_Missense_Mutation_p.E716Q|EIF4G1_uc003fnr.2_Missense_Mutation_p.E639Q|EIF4G1_uc010hxx.2_Missense_Mutation_p.E810Q|EIF4G1_uc003fns.2_Missense_Mutation_p.E763Q|EIF4G1_uc010hxy.2_Missense_Mutation_p.E810Q|EIF4G1_uc003fnv.3_Missense_Mutation_p.E804Q|EIF4G1_uc003fnu.3_Missense_Mutation_p.E803Q|EIF4G1_uc003fnw.2_Missense_Mutation_p.E810Q|EIF4G1_uc003fnx.2_Missense_Mutation_p.E608Q|EIF4G1_uc003fny.3_Missense_Mutation_p.E607Q|SNORD66_uc003fnz.2_5'Flank	p.E803Q	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2605	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		803			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.2407G>C	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038588	0.93630	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.92	5.92	0.95590	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	M	0.87682	2.9	0.80722	D	1	D;D;D;D	0.60575	0.988;0.988;0.98;0.988	D;D;P;D	0.64877	0.93;0.93;0.899;0.93	T	0.63251	-0.6679	10	0.87932	D	0	-18.0183	20.3206	0.98668	0.0:0.0:1.0:0.0	.	810;804;803;810	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	Q	803;763;716;804;811;810;744;639;810;717;804;803;810;764;639;640;608;607	ENSP00000316879:E803Q;ENSP00000391935:E763Q;ENSP00000376320:E716Q;ENSP00000391412:E804Q;ENSP00000413159:E811Q;ENSP00000371767:E810Q;ENSP00000403269:E744Q;ENSP00000317600:E639Q;ENSP00000338020:E810Q;ENSP00000407682:E717Q;ENSP00000343450:E804Q;ENSP00000323737:E803Q;ENSP00000416255:E810Q;ENSP00000395974:E764Q;ENSP00000398145:E639Q;ENSP00000399858:E640Q;ENSP00000411826:E608Q;ENSP00000404754:E607Q	ENSP00000323737:E803Q	E	+	1	0	EIF4G1	185524394	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.658000	0.83755	2.813000	0.96785	0.561000	0.74099	GAG		0.517	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1		NM_182917		117	297	0	0	0	0.01441	0	117	297		
EPHB3	2049	broad.mit.edu	37	3	184299313	184299313	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:184299313G>T	ENST00000330394.2	+	16	3352	c.2900G>T	c.(2899-2901)cGt>cTt	p.R967L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	967	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GACCTGCTCCGTATTGGGGTC	0.607																																						uc003foz.2		NaN																	0				lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(2899-2901)CGT>CTT		ephrin receptor EphB3 precursor							60.0	51.0	54.0					3																	184299313		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184299313G>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2900G>T	3.37:g.184299313G>T	ENSP00000332118:p.Arg967Leu						p.R967L	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		16	3337	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		967			Cytoplasmic (Potential).|SAM.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.2900G>T	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275851	0.59649	.	.	ENSG00000182580	ENST00000330394	T	0.51574	0.7	4.36	4.36	0.52297	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.72875	0.3515	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79485	-0.1784	10	0.87932	D	0	.	16.7884	0.85580	0.0:0.0:1.0:0.0	.	967	P54753	EPHB3_HUMAN	L	967	ENSP00000332118:R967L	ENSP00000332118:R967L	R	+	2	0	EPHB3	185782007	1.000000	0.71417	0.948000	0.38648	0.775000	0.43874	9.770000	0.98971	2.378000	0.81104	0.643000	0.83706	CGT		0.607	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1		NM_004443		58	72	1	0	2.44813e-32	0.01441	2.63334e-32	58	72		
MAP3K13	9175	broad.mit.edu	37	3	185146688	185146688	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:185146688G>A	ENST00000265026.3	+	2	653	c.319G>A	c.(319-321)Gga>Aga	p.G107R	MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.G107R|MAP3K13_ENST00000446828.1_Intron	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CACGGTGGACGGAGAGAGCAC	0.517																																						uc010hyf.2		NaN																	0				ovary(2)|skin(1)	3						c.(319-321)GGA>AGA		mitogen-activated protein kinase kinase kinase							109.0	96.0	101.0					3																	185146688		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185146688G>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.319G>A	3.37:g.185146688G>A	ENSP00000265026:p.Gly107Arg					MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Intron|MAP3K13_uc003fpi.2_Missense_Mutation_p.G107R|MAP3K13_uc010hyg.2_5'UTR	p.G107R	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		3	585	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		107						Missense_Mutation	SNP	ENST00000265026.3	37	c.319G>A	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245586	0.39697	.	.	ENSG00000073803	ENST00000447637;ENST00000424227;ENST00000428617;ENST00000265026	T;T;T;T	0.76709	-0.63;-1.04;0.11;-1.04	5.61	2.83	0.33086	.	0.442551	0.21403	N	0.075101	T	0.70535	0.3235	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	P	0.60682	0.878	T	0.68780	-0.5318	10	0.46703	T	0.11	.	8.9906	0.36022	0.134:0.1227:0.7432:0.0	.	107	O43283	M3K13_HUMAN	R	107	ENSP00000389495:G107R;ENSP00000399910:G107R;ENSP00000405163:G107R;ENSP00000265026:G107R	ENSP00000265026:G107R	G	+	1	0	MAP3K13	186629382	1.000000	0.71417	0.339000	0.25562	0.093000	0.18481	5.097000	0.64542	0.309000	0.22966	-0.136000	0.14681	GGA		0.517	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1		NM_004721		22	60	0	0	0	0.014323	0	22	60		
ZNF721	170960	broad.mit.edu	37	4	437033	437033	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:437033T>G	ENST00000338977.5	-	2	1235	c.1187A>C	c.(1186-1188)aAg>aCg	p.K396T	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.K408T|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	396					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(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GTGAATTCTCTTATGTGCAGT	0.393																																						uc003gag.2		NaN																	0				ovary(1)	1						c.(1222-1224)AAG>ACG		zinc finger protein 721							89.0	92.0	91.0					4																	437033		2092	4256	6348	SO:0001583	missense	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:437033T>G	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1187A>C	4.37:g.437033T>G	ENSP00000340524:p.Lys396Thr					ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.K440T|ZNF721_uc010ibe.2_Missense_Mutation_p.K396T	p.K408T	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	1914	-			408					Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1223A>C		.	.	.	.	.	.	.	.	.	.	T	9.871	1.198995	0.22121	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.51817	0.69;0.69	1.03	-0.94	0.10405	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51398	0.1672	L	0.41492	1.28	0.09310	N	1	P;P;D	0.54772	0.895;0.947;0.968	B;D;D	0.70487	0.264;0.932;0.969	T	0.40213	-0.9575	9	0.62326	D	0.03	.	4.2895	0.10870	0.2963:0.0:0.0:0.7036	.	396;408;408	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	T	396;408	ENSP00000340524:K396T;ENSP00000428878:K408T	ENSP00000340524:K396T	K	-	2	0	ZNF721	427033	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.293000	0.19029	-0.166000	0.10890	0.163000	0.16589	AAG		0.393	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1		NM_133474		34	46	0	0	0	0.013726	0	34	46		
MXD4	10608	broad.mit.edu	37	4	2252408	2252408	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:2252408C>G	ENST00000337190.2	-	6	806	c.493G>C	c.(493-495)Gag>Cag	p.E165Q	MIR4800_ENST00000537353.2_RNA	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	165					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GGGCCAAACTCCATGCCCTCT	0.607																																						uc003geu.1		NaN																	0					0						c.(493-495)GAG>CAG		MAD4							59.0	53.0	55.0					4																	2252408		2203	4300	6503	SO:0001583	missense	10608				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr4:2252408C>G		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.493G>C	4.37:g.2252408C>G	ENSP00000337889:p.Glu165Gln						p.E165Q	NM_006454	NP_006445	Q14582	MAD4_HUMAN			6	525	-			165					A2A335|Q5TZX4	Missense_Mutation	SNP	ENST00000337190.2	37	c.493G>C	CCDS3361.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203534	0.79127	.	.	ENSG00000123933	ENST00000337190	T	0.50277	0.75	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.63331	0.2502	M	0.71581	2.175	0.80722	D	1	D	0.67145	0.996	D	0.63283	0.913	T	0.63839	-0.6546	10	0.37606	T	0.19	-17.2235	14.1762	0.65542	0.0:1.0:0.0:0.0	.	165	Q14582	MAD4_HUMAN	Q	165	ENSP00000337889:E165Q	ENSP00000337889:E165Q	E	-	1	0	MXD4	2222206	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.099000	0.64554	2.186000	0.69663	0.561000	0.74099	GAG		0.607	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1		NM_006454		47	96	0	0	0	0.01441	0	47	96		
MXD4	10608	broad.mit.edu	37	4	2252892	2252892	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:2252892C>G	ENST00000337190.2	-	5	704	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	MIR4800_ENST00000537353.2_RNA	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	131					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GACAGCTGCTCCAGGCGCCGC	0.677																																						uc003geu.1		NaN																	0					0						c.(391-393)GAG>CAG		MAD4							23.0	23.0	23.0					4																	2252892		2202	4300	6502	SO:0001583	missense	10608				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr4:2252892C>G		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.391G>C	4.37:g.2252892C>G	ENSP00000337889:p.Glu131Gln						p.E131Q	NM_006454	NP_006445	Q14582	MAD4_HUMAN			5	423	-			131					A2A335|Q5TZX4	Missense_Mutation	SNP	ENST00000337190.2	37	c.391G>C	CCDS3361.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480104	0.84747	.	.	ENSG00000123933	ENST00000337190	T	0.30981	1.51	4.49	3.65	0.41850	Helix-loop-helix DNA-binding (2);	0.055357	0.64402	D	0.000001	T	0.51466	0.1676	M	0.81497	2.545	0.58432	D	0.999999	D	0.65815	0.995	P	0.62184	0.899	T	0.55003	-0.8208	10	0.87932	D	0	-24.5519	10.0058	0.41957	0.0:0.8988:0.0:0.1012	.	131	Q14582	MAD4_HUMAN	Q	131	ENSP00000337889:E131Q	ENSP00000337889:E131Q	E	-	1	0	MXD4	2222690	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.205000	0.77881	0.864000	0.35578	0.511000	0.50034	GAG		0.677	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1		NM_006454		26	45	0	0	0	0.015359	0	26	45		
HTRA3	94031	broad.mit.edu	37	4	8284261	8284261	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:8284261G>A	ENST00000307358.2	+	2	687	c.483G>A	c.(481-483)ctG>ctA	p.L161L	HTRA3_ENST00000382512.3_Silent_p.L161L	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	161					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						AGCTCTTCCTGAGGTGGGTGA	0.617																																						uc003gla.2		NaN																	0				ovary(1)	1						c.(481-483)CTG>CTA		HtrA serine peptidase 3 precursor							93.0	76.0	82.0					4																	8284261		2203	4300	6503	SO:0001819	synonymous_variant	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8284261G>A	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.483G>A	4.37:g.8284261G>A						HTRA3_uc003gkz.2_Silent_p.L161L	p.L161L	NM_053044	NP_444272	P83110	HTRA3_HUMAN			2	687	+			161					Q7Z7A2	Silent	SNP	ENST00000307358.2	37	c.483G>A	CCDS3400.1																																																																																				0.617	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1		NM_053044		38	44	0	0	0	0.006999	0	38	44		
ZCCHC4	29063	broad.mit.edu	37	4	25351119	25351119	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:25351119C>T	ENST00000302874.4	+	7	789	c.765C>T	c.(763-765)gcC>gcT	p.A255A	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	255							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TCCAGACTGCCCTTGAAGTAT	0.408																																						uc003grl.3		NaN																	0				ovary(2)	2						c.(763-765)GCC>GCT		zinc finger, CCHC domain containing 4							167.0	154.0	158.0					4																	25351119		1865	4103	5968	SO:0001819	synonymous_variant	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25351119C>T	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.765C>T	4.37:g.25351119C>T						ZCCHC4_uc003grm.1_RNA|ZCCHC4_uc003grn.3_Silent_p.A21A	p.A255A	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN			7	801	+		Breast(46;0.0503)	255					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Silent	SNP	ENST00000302874.4	37	c.765C>T	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	C	9.748	1.166786	0.21621	.	.	ENSG00000168228	ENST00000505412	.	.	.	5.71	2.67	0.31697	.	.	.	.	.	T	0.45915	0.1366	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33394	-0.9870	4	.	.	.	-16.7012	2.9199	0.05765	0.1954:0.4661:0.0:0.3385	.	.	.	.	S	120	.	.	P	+	1	0	ZCCHC4	24960217	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.794000	0.38774	0.776000	0.33473	-0.136000	0.14681	CCT		0.408	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1				54	101	0	0	0	0.01441	0	54	101		
SHISA3	152573	broad.mit.edu	37	4	42403228	42403228	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:42403228C>T	ENST00000319234.4	+	2	695	c.477C>T	c.(475-477)tcC>tcT	p.S159S		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	159					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GGGCACCCTCCCGGCAGTCCA	0.672																																						uc003gwp.2		NaN																	0				ovary(1)|skin(1)	2						c.(475-477)TCC>TCT		shisa homolog 3 precursor							88.0	97.0	94.0					4																	42403228		2203	4300	6503	SO:0001819	synonymous_variant	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403228C>T	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.477C>T	4.37:g.42403228C>T							p.S159S	NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN			2	695	+			159			Cytoplasmic (Potential).		A0PJX3|Q96EQ5	Silent	SNP	ENST00000319234.4	37	c.477C>T	CCDS33979.1																																																																																				0.672	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1		NM_001080505		95	267	0	0	0	0.01441	0	95	267		
GABRG1	2565	broad.mit.edu	37	4	46043250	46043250	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:46043250C>A	ENST00000295452.4	-	9	1320	c.1153G>T	c.(1153-1155)Gga>Tga	p.G385*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	385					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGAGTGGATCCAGGATGGAGA	0.388																																						uc003gxb.2		NaN																	0				ovary(2)	2						c.(1153-1155)GGA>TGA		gamma-aminobutyric acid A receptor, gamma 1							55.0	58.0	57.0					4																	46043250		2203	4298	6501	SO:0001587	stop_gained	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043250C>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1153G>T	4.37:g.46043250C>A	ENSP00000295452:p.Gly385*						p.G385*	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1305	-			385			Cytoplasmic (Probable).		Q5H9T8	Nonsense_Mutation	SNP	ENST00000295452.4	37	c.1153G>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.903999	0.92035	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	.	.	.	4.7	4.7	0.59300	.	0.115949	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	12.6549	0.56782	0.0:0.8339:0.1661:0.0	.	.	.	.	X	385	.	ENSP00000295452:G385X	G	-	1	0	GABRG1	45738007	0.784000	0.28713	1.000000	0.80357	0.511000	0.34104	1.383000	0.34385	2.436000	0.82500	0.585000	0.79938	GGA		0.388	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1		NM_173536		25	21	1	0	7.16444e-05	0.003954	7.26018e-05	25	21		
GABRB1	2560	broad.mit.edu	37	4	47427997	47427997	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:47427997C>T	ENST00000295454.3	+	9	1679	c.1387C>T	c.(1387-1389)Ctt>Ttt	p.L463F	GABRB1_ENST00000538619.1_Missense_Mutation_p.L393F	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	463					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CACCTTTTCTCTTTTTAATGT	0.428																																						uc003gxh.2		NaN																	0				ovary(2)	2						c.(1387-1389)CTT>TTT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						103.0	100.0	101.0					4																	47427997		2203	4298	6501	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427997C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1387C>T	4.37:g.47427997C>T	ENSP00000295454:p.Leu463Phe					GABRB1_uc011bze.1_Missense_Mutation_p.L393F	p.L463F	NM_000812	NP_000803	P18505	GBRB1_HUMAN			9	1761	+			463			Helical; (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1387C>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	3.508	-0.100402	0.06967	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.87412	-2.25;-2.25	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.229124	0.37530	N	0.002048	T	0.75803	0.3899	N	0.16478	0.41	0.43091	D	0.994764	B;B	0.11235	0.004;0.003	B;B	0.17433	0.018;0.009	T	0.68845	-0.5301	10	0.11182	T	0.66	-16.1936	12.5356	0.56140	0.0:0.9245:0.0:0.0755	.	393;463	F5GXV5;P18505	.;GBRB1_HUMAN	F	463;393	ENSP00000295454:L463F;ENSP00000440330:L393F	ENSP00000295454:L463F	L	+	1	0	GABRB1	47122754	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	3.664000	0.54525	2.781000	0.95711	0.650000	0.86243	CTT		0.428	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1				70	89	0	0	0	0.01441	0	70	89		
ETNPPL	64850	broad.mit.edu	37	4	109677623	109677623	+	Missense_Mutation	SNP	G	G	A	rs112469981		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:109677623G>A	ENST00000296486.3	-	4	515	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	ETNPPL_ENST00000510706.1_Missense_Mutation_p.R81C|ETNPPL_ENST00000512646.1_Missense_Mutation_p.R63C|ETNPPL_ENST00000411864.2_Missense_Mutation_p.R115C	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	121						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										CGAGCCAGGCGTAAGGCTAAG	0.448																																						uc003hzc.2		NaN																	0				ovary(1)	1						c.(361-363)CGC>TGC		alanine-glyoxylate aminotransferase 2-like 1		G	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	78.0	79.0		343,187,361	4.7	1.0	4	dbSNP_132	79	0,8600		0,0,4300	no	missense,missense,missense	AGXT2L1	NM_001146590.1,NM_001146627.1,NM_031279.3	180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	115/494,63/442,121/500	109677623	1,13005	2203	4300	6503	SO:0001583	missense	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109677623G>A	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.361C>T	4.37:g.109677623G>A	ENSP00000296486:p.Arg121Cys					AGXT2L1_uc010imc.2_Missense_Mutation_p.R115C|AGXT2L1_uc011cfm.1_Missense_Mutation_p.R81C|AGXT2L1_uc011cfn.1_Missense_Mutation_p.R48C|AGXT2L1_uc011cfo.1_Missense_Mutation_p.R63C	p.R121C	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	4	542	-			121					B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.361C>T	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641820	0.87859	2.27E-4	0.0	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706;ENST00000512320;ENST00000510723	D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.61	4.74	0.60224	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96318	0.8799	H	0.98965	4.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.997	D	0.97722	1.0197	9	.	.	.	-12.898	15.9431	0.79773	0.0:0.0:0.8646:0.1354	.	63;115;121	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	C	121;115;63;81;48;63	ENSP00000296486:R121C;ENSP00000392269:R115C;ENSP00000427065:R63C;ENSP00000423240:R81C;ENSP00000421217:R48C;ENSP00000426525:R63C	.	R	-	1	0	AGXT2L1	109897072	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.501000	0.60393	2.649000	0.89929	0.563000	0.77884	CGC		0.448	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1		NM_031279		17	61	0	0	0	0.008871	0	17	61		
ALPK1	80216	broad.mit.edu	37	4	113352240	113352240	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:113352240C>G	ENST00000458497.1	+	11	1816	c.1537C>G	c.(1537-1539)Caa>Gaa	p.Q513E	ALPK1_ENST00000177648.9_Missense_Mutation_p.Q513E|ALPK1_ENST00000504176.2_Missense_Mutation_p.Q435E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	513							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GCCACATTGTCAAAGAGACAC	0.408																																						uc003iap.3		NaN																	0				ovary(5)	5						c.(1537-1539)CAA>GAA		alpha-kinase 1							55.0	56.0	56.0					4																	113352240		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113352240C>G	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1537C>G	4.37:g.113352240C>G	ENSP00000398048:p.Gln513Glu					ALPK1_uc003ian.3_Missense_Mutation_p.Q513E|ALPK1_uc011cfx.1_Missense_Mutation_p.Q435E|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.Q341E	p.Q513E	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	1816	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	513					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.1537C>G	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	C	3.029	-0.199963	0.06219	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02369	4.4;4.4;4.32	5.48	3.65	0.41850	.	1.100120	0.06739	N	0.778000	T	0.01835	0.0058	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.44544	-0.9321	10	0.02654	T	1	-1.3776	5.6267	0.17487	0.1209:0.3417:0.4581:0.0793	.	435;435;513	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	E	513;513;435	ENSP00000398048:Q513E;ENSP00000177648:Q513E;ENSP00000426044:Q435E	ENSP00000177648:Q513E	Q	+	1	0	ALPK1	113571689	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.037000	0.13840	1.318000	0.45170	0.655000	0.94253	CAA		0.408	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2		NM_025144		30	29	0	0	0	0.008361	0	30	29		
USP53	54532	broad.mit.edu	37	4	120181753	120181753	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:120181753C>G	ENST00000274030.6	+	11	1946	c.767C>G	c.(766-768)tCt>tGt	p.S256C	USP53_ENST00000450251.1_Missense_Mutation_p.S256C	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TCCGAGCATTCTGACTTGACC	0.378																																						uc003ics.3		NaN																	0				ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(766-768)TCT>TGT		ubiquitin specific protease 53							166.0	156.0	160.0					4																	120181753		1846	4085	5931	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120181753C>G	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.767C>G	4.37:g.120181753C>G	ENSP00000274030:p.Ser256Cys					USP53_uc003icr.3_Missense_Mutation_p.S256C|USP53_uc003icu.3_5'UTR	p.S256C	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN			10	1833	+			256						Missense_Mutation	SNP	ENST00000274030.6	37	c.767C>G	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776682	0.90195	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.33216	1.42;1.42	6.17	6.17	0.99709	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.052044	0.85682	D	0.000000	T	0.55449	0.1921	M	0.64997	1.995	0.54753	D	0.999988	D	0.59357	0.985	D	0.64877	0.93	T	0.51364	-0.8715	10	0.87932	D	0	-19.1227	20.8794	0.99867	0.0:1.0:0.0:0.0	.	256	Q70EK8	UBP53_HUMAN	C	256	ENSP00000274030:S256C;ENSP00000409906:S256C	ENSP00000274030:S256C	S	+	2	0	USP53	120401201	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.452000	0.80683	2.941000	0.99782	0.655000	0.94253	TCT		0.378	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2		XM_052597		42	44	0	0	0	0.01441	0	42	44		
OTUD4	54726	broad.mit.edu	37	4	146063358	146063358	+	Silent	SNP	A	A	G	rs375195266		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:146063358A>G	ENST00000447906.2	-	18	1999	c.1812T>C	c.(1810-1812)ttT>ttC	p.F604F	OTUD4_ENST00000454497.2_Silent_p.F539F|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	604					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTGTTGGTCCAAAAGTTGTAG	0.468																																						uc003ika.3		NaN																	0				ovary(2)|breast(1)	3						c.(1615-1617)TTT>TTC		OTU domain containing 4 protein isoform 3		A		0,4406		0,0,2203	137.0	141.0	139.0		1617	2.0	1.0	4		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OTUD4	NM_001102653.1		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		539/1050	146063358	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146063358A>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1812T>C	4.37:g.146063358A>G						OTUD4_uc003ijz.3_Silent_p.F538F	p.F539F	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			18	1755	-	all_hematologic(180;0.151)		603					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.1617T>C																																																																																					0.468	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2		NM_017493		53	170	0	0	0	0.01441	0	53	170		
CCDC110	256309	broad.mit.edu	37	4	186380089	186380089	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:186380089T>C	ENST00000307588.3	-	6	1727	c.1652A>G	c.(1651-1653)cAc>cGc	p.H551R	CCDC110_ENST00000393540.3_Missense_Mutation_p.H514R|CCDC110_ENST00000510617.1_Missense_Mutation_p.H551R|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	551						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTGAGTTTTGTGTTCCTTACT	0.303																																						uc003ixu.3		NaN																	0				central_nervous_system(1)	1						c.(1651-1653)CAC>CGC		coiled-coil domain containing 110 isoform a							121.0	113.0	116.0					4																	186380089		2203	4295	6498	SO:0001583	missense	256309					nucleus		g.chr4:186380089T>C	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1652A>G	4.37:g.186380089T>C	ENSP00000306776:p.His551Arg					CCDC110_uc003ixv.3_Missense_Mutation_p.H514R|CCDC110_uc011ckt.1_Missense_Mutation_p.H551R	p.H551R	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1728	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	551			Potential.		Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1652A>G	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.317856	0.40996	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.32272	1.46;1.46;1.46	5.85	4.65	0.58169	.	0.359357	0.23704	N	0.045388	T	0.34250	0.0891	M	0.65975	2.015	0.26563	N	0.97371	P;P;P	0.45827	0.867;0.867;0.867	P;P;P	0.44897	0.463;0.463;0.463	T	0.22730	-1.0208	10	0.27785	T	0.31	-4.2709	10.6158	0.45449	0.0:0.0752:0.0:0.9248	.	551;514;551	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	R	514;551;551	ENSP00000377172:H514R;ENSP00000306776:H551R;ENSP00000427246:H551R	ENSP00000306776:H551R	H	-	2	0	CCDC110	186617083	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.350000	0.66016	2.223000	0.72356	0.533000	0.62120	CAC		0.303	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2		NM_152775		13	35	0	0	0	0.003163	0	13	35		
DNAH5	1767	broad.mit.edu	37	5	13913870	13913870	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:13913870G>A	ENST00000265104.4	-	11	1622	c.1518C>T	c.(1516-1518)gaC>gaT	p.D506D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	506	Stem. {ECO:0000250}.				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)					TAGTGGCCATGTCTTCCAGCC	0.358									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(1516-1518)GAC>GAT		dynein, axonemal, heavy chain 5							117.0	119.0	119.0					5																	13913870		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.chr5:13913870G>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.1518C>T	5.37:g.13913870G>A						DNAH5_uc003jfe.1_RNA	p.D506D	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			11	1560	-	Lung NSC(4;0.00476)		506			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.1518C>T	CCDS3882.1																																																																																				0.358	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		45	35	0	0	0	0.01441	0	45	35		
FBXL7	23194	broad.mit.edu	37	5	15937113	15937113	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:15937113C>G	ENST00000504595.1	+	4	1775	c.1294C>G	c.(1294-1296)Cgg>Ggg	p.R432G	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000329673.7_Missense_Mutation_p.R420G|FBXL7_ENST00000510662.1_Missense_Mutation_p.R385G	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	432					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CAACCTCAAGCGGCTCAGCCT	0.582																																						uc003jfn.1		NaN																	0				ovary(2)|lung(1)	3						c.(1294-1296)CGG>GGG		F-box and leucine-rich repeat protein 7							69.0	73.0	72.0					5																	15937113		2063	4216	6279	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15937113C>G	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1294C>G	5.37:g.15937113C>G	ENSP00000423630:p.Arg432Gly						p.R432G	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			4	1775	+			432			LRR 10.		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.1294C>G	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825786	0.71143	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.02369	4.32;4.32;4.32	5.37	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.07369	0.0186	M	0.71871	2.18	0.80722	D	1	D	0.59767	0.986	P	0.48571	0.582	T	0.44467	-0.9326	10	0.23302	T	0.38	.	14.9801	0.71306	0.1481:0.8519:0.0:0.0	.	432	Q9UJT9	FBXL7_HUMAN	G	432;385;420	ENSP00000423630:R432G;ENSP00000425184:R385G;ENSP00000329632:R420G	ENSP00000329632:R420G	R	+	1	2	FBXL7	15990113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.692000	0.54727	1.209000	0.43321	0.655000	0.94253	CGG		0.582	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1		NM_012304		23	70	0	0	0	0.012319	0	23	70		
PDZD2	23037	broad.mit.edu	37	5	32074145	32074145	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:32074145G>C	ENST00000438447.1	+	18	3321	c.2933G>C	c.(2932-2934)aGa>aCa	p.R978T	PDZD2_ENST00000282493.3_Missense_Mutation_p.R978T			O15018	PDZD2_HUMAN	PDZ domain containing 2	978					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGTTTGACAGAGAAGGGGAC	0.607																																						uc003jhl.2		NaN																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(2932-2934)AGA>ACA		PDZ domain containing 2							63.0	67.0	66.0					5																	32074145		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32074145G>C	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2933G>C	5.37:g.32074145G>C	ENSP00000402033:p.Arg978Thr					PDZD2_uc003jhm.2_Missense_Mutation_p.R978T|PDZD2_uc011cnx.1_Missense_Mutation_p.R804T	p.R978T	NM_178140	NP_835260	O15018	PDZD2_HUMAN			18	3321	+			978					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.2933G>C	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207513	0.39003	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06371	3.31;3.31	5.78	5.78	0.91487	.	0.414417	0.20765	N	0.086089	T	0.06280	0.0162	N	0.19112	0.55	0.09310	N	1	B;B	0.17038	0.02;0.013	B;B	0.14023	0.006;0.01	T	0.34129	-0.9841	10	0.37606	T	0.19	.	17.5078	0.87750	0.0:0.0:1.0:0.0	.	804;978	B4E3P2;O15018	.;PDZD2_HUMAN	T	978;780;978	ENSP00000402033:R978T;ENSP00000282493:R978T	ENSP00000282493:R978T	R	+	2	0	PDZD2	32109902	0.000000	0.05858	0.020000	0.16555	0.599000	0.36880	0.468000	0.22051	2.724000	0.93272	0.563000	0.77884	AGA		0.607	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1				33	53	0	0	0	0.009535	0	33	53		
WDR41	55255	broad.mit.edu	37	5	76736658	76736658	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:76736658G>C	ENST00000296679.4	-	9	1237	c.862C>G	c.(862-864)Cat>Gat	p.H288D	WDR41_ENST00000414719.2_Missense_Mutation_p.H34D|WDR41_ENST00000507029.1_Missense_Mutation_p.H233D	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	288						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CATGTGAAATGATGAATAGAA	0.343																																						uc003kff.1		NaN																	0					0						c.(862-864)CAT>GAT		WD repeat domain 41							106.0	106.0	106.0					5																	76736658		2203	4300	6503	SO:0001583	missense	55255							g.chr5:76736658G>C	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.862C>G	5.37:g.76736658G>C	ENSP00000296679:p.His288Asp					WDR41_uc011csy.1_Missense_Mutation_p.H230D|WDR41_uc011csz.1_Missense_Mutation_p.H233D|WDR41_uc011cta.1_RNA|WDR41_uc011ctb.1_RNA	p.H288D	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)	9	1149	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	288					B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	37	c.862C>G	CCDS4038.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.18|15.18	2.756095|2.756095	0.49362|0.49362	.|.	.|.	ENSG00000164253|ENSG00000164253	ENST00000296679;ENST00000414719;ENST00000515253;ENST00000507029;ENST00000507654;ENST00000511791|ENST00000511630	T;T;T;T;T;T|.	0.65178|.	-0.08;-0.14;-0.08;-0.08;0.08;2.38|.	5.8|5.8	4.92|4.92	0.64577|0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.093324|.	0.64402|.	D|.	0.000001|.	T|T	0.71693|0.71693	0.3370|0.3370	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999999|0.999999	B;B;B|.	0.31383|.	0.321;0.321;0.001|.	B;B;B|.	0.33454|.	0.164;0.164;0.005|.	T|T	0.71130|0.71130	-0.4682|-0.4682	10|5	0.54805|.	T|.	0.06|.	-6.5452|-6.5452	16.0637|16.0637	0.80856|0.80856	0.0:0.0:0.8647:0.1353|0.0:0.0:0.8647:0.1353	.|.	233;34;288|.	B4DT55;B4E2L4;Q9HAD4|.	.;.;WDR41_HUMAN|.	D|M	288;34;223;233;59;80|113	ENSP00000296679:H288D;ENSP00000392931:H34D;ENSP00000426499:H223D;ENSP00000424287:H233D;ENSP00000427291:H59D;ENSP00000423540:H80D|.	ENSP00000296679:H288D|.	H|I	-|-	1|3	0|3	WDR41|WDR41	76772414|76772414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.621000|4.621000	0.61233|0.61233	1.415000|1.415000	0.47037|0.47037	0.650000|0.650000	0.86243|0.86243	CAT|ATC		0.343	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2		NM_018268		20	33	0	0	0	0.007413	0	20	33		
BRD8	10902	broad.mit.edu	37	5	137488324	137488324	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:137488324C>G	ENST00000254900.5	-	21	3074	c.2703G>C	c.(2701-2703)tgG>tgC	p.W901C		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	901					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAGTTTCCCTCCAGTTGCCCA	0.517																																						uc003lcf.1		NaN																	0				ovary(1)	1						c.(2701-2703)TGG>TGC		bromodomain containing 8 isoform 2							192.0	191.0	191.0					5																	137488324		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137488324C>G	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2703G>C	5.37:g.137488324C>G	ENSP00000254900:p.Trp901Cys					BRD8_uc003lcc.1_Intron	p.W901C	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		21	2758	-			901					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.2703G>C	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512809	0.64522	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.47528	1.28;0.84	5.39	5.39	0.77823	.	0.000000	0.40385	N	0.001114	T	0.55784	0.1942	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.52177	-0.8610	10	0.38643	T	0.18	-2.6878	16.0138	0.80422	0.0:1.0:0.0:0.0	.	901	Q9H0E9	BRD8_HUMAN	C	901;7	ENSP00000254900:W901C;ENSP00000392646:W7C	ENSP00000254900:W901C	W	-	3	0	BRD8	137516223	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.401000	0.59716	2.795000	0.96236	0.655000	0.94253	TGG		0.517	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3		NM_006696		111	148	0	0	0	0.01441	0	111	148		
TMCO6	55374	broad.mit.edu	37	5	140024595	140024595	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:140024595C>G	ENST00000394671.3	+	12	1495	c.1394C>G	c.(1393-1395)tCa>tGa	p.S465*	MIR3655_ENST00000581765.1_RNA|TMCO6_ENST00000252100.6_Nonsense_Mutation_p.S471*|IK_ENST00000417647.2_5'Flank|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Nonsense_Mutation_p.S225*	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	465					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGCAGTCAGGGCTGCAA	0.537																																						uc003lgl.2		NaN																	0					0						c.(1393-1395)TCA>TGA		transmembrane and coiled-coil domains 6							94.0	93.0	93.0					5																	140024595		1926	4136	6062	SO:0001587	stop_gained	55374				protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	g.chr5:140024595C>G	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1394C>G	5.37:g.140024595C>G	ENSP00000378166:p.Ser465*					TMCO6_uc003lgm.2_Nonsense_Mutation_p.S471*|TMCO6_uc010jft.2_Nonsense_Mutation_p.S225*|TMCO6_uc003lgn.2_Nonsense_Mutation_p.S356*|TMCO6_uc003lgo.2_Nonsense_Mutation_p.S225*|IK_uc011czk.1_5'Flank|IK_uc003lgq.2_5'Flank	p.S465*	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1495	+			465					Q9BUU0|Q9P198	Nonsense_Mutation	SNP	ENST00000394671.3	37	c.1394C>G	CCDS4233.2	.	.	.	.	.	.	.	.	.	.	C	33	5.226254	0.95173	.	.	ENSG00000113119	ENST00000394671;ENST00000537378;ENST00000252100	.	.	.	5.71	5.71	0.89125	.	0.618657	0.14759	N	0.300083	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-5.7412	13.054	0.58969	0.0:0.8387:0.1613:0.0	.	.	.	.	X	465;225;471	.	ENSP00000252100:S471X	S	+	2	0	TMCO6	140004779	0.646000	0.27295	0.897000	0.35233	0.962000	0.63368	2.991000	0.49409	2.681000	0.91329	0.655000	0.94253	TCA		0.537	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2		NM_018502		72	104	0	0	0	0.01441	0	72	104		
PCDHGA3	56112	broad.mit.edu	37	5	140725379	140725379	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:140725379G>A	ENST00000253812.6	+	1	1779	c.1779G>A	c.(1777-1779)gcG>gcA	p.A593A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	593	Cadherin 6. {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)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGTGGCGGTGGACAGAG	0.692																																						uc003ljm.1		NaN																	0				breast(1)	1						c.(1777-1779)GCG>GCA		protocadherin gamma subfamily A, 3 isoform 1							34.0	40.0	38.0					5																	140725379		2202	4286	6488	SO:0001819	synonymous_variant	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725379G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1779G>A	5.37:g.140725379G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.A353A|PCDHGA3_uc011dap.1_Silent_p.A593A	p.A593A	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1779	+			593			Extracellular (Potential).|Cadherin 6.		Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.1779G>A	CCDS47290.1																																																																																				0.692	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1		NM_018916		108	254	0	0	0	0.01441	0	108	254		
PCDH1	5097	broad.mit.edu	37	5	141233792	141233792	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:141233792C>G	ENST00000287008.3	-	5	3676	c.3529G>C	c.(3529-3531)Gac>Cac	p.D1177H	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					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)		GTGTTCCGGTCTTCCGGGGGG	0.667																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llp.2		NaN																	0				ovary(5)	5						c.(3529-3531)GAC>CAC		protocadherin 1 isoform 2 precursor							18.0	20.0	20.0					5																	141233792		2201	4298	6499	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141233792C>G	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	ENST00000287008.3:c.3529G>C	5.37:g.141233792C>G	ENSP00000287008:p.Asp1177His						p.D1177H	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	5	3646	-		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)	Error:Variant_position_missing_in_Q08174_after_alignment					Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	c.3529G>C	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033222	0.35893	.	.	ENSG00000156453	ENST00000287008	T	0.58060	0.36	4.78	4.78	0.61160	.	0.606249	0.13361	U	0.393664	T	0.46756	0.1409	L	0.39898	1.24	0.80722	D	1	B	0.26483	0.15	B	0.16722	0.016	T	0.47058	-0.9146	10	0.72032	D	0.01	.	15.6636	0.77209	0.0:1.0:0.0:0.0	.	1177	Q08174-2	.	H	1177	ENSP00000287008:D1177H	ENSP00000287008:D1177H	D	-	1	0	PCDH1	141213976	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.293000	0.78740	2.375000	0.81037	0.448000	0.29417	GAC		0.667	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2		NM_032420		33	31	0	0	0	0.004878	0	33	31		
PCDH1	5097	broad.mit.edu	37	5	141233828	141233828	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:141233828C>G	ENST00000287008.3	-	5	3640	c.3493G>C	c.(3493-3495)Gag>Cag	p.E1165Q	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					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)		CCCGCAGGCTCCTGCCCTCCT	0.677																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llp.2		NaN																	0				ovary(5)	5						c.(3493-3495)GAG>CAG		protocadherin 1 isoform 2 precursor							12.0	15.0	14.0					5																	141233828		2200	4286	6486	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141233828C>G	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	ENST00000287008.3:c.3493G>C	5.37:g.141233828C>G	ENSP00000287008:p.Glu1165Gln						p.E1165Q	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	5	3610	-		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)	Error:Variant_position_missing_in_Q08174_after_alignment					Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	c.3493G>C	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294549	0.60086	.	.	ENSG00000156453	ENST00000287008	T	0.52057	0.68	4.43	4.43	0.53597	.	0.538588	0.14323	U	0.326913	T	0.56062	0.1960	L	0.43152	1.355	0.80722	D	1	D	0.57899	0.981	P	0.56563	0.801	T	0.57189	-0.7854	10	0.56958	D	0.05	.	14.8557	0.70335	0.0:1.0:0.0:0.0	.	1165	Q08174-2	.	Q	1165	ENSP00000287008:E1165Q	ENSP00000287008:E1165Q	E	-	1	0	PCDH1	141214012	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.458000	0.60095	2.169000	0.68431	0.297000	0.19635	GAG		0.677	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2		NM_032420		28	27	0	0	0	0.003755	0	28	27		
ADAM19	8728	broad.mit.edu	37	5	156946911	156946911	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:156946911G>C	ENST00000517905.1	-	6	580	c.536C>G	c.(535-537)tCc>tGc	p.S179C	ADAM19_ENST00000394020.1_Missense_Mutation_p.S181C|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000257527.4_Missense_Mutation_p.S179C			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	179					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGGGCTTGGAGTGCTCGAA	0.552																																						uc003lwz.2		NaN																	0				ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(535-537)TCC>TGC		ADAM metallopeptidase domain 19 preproprotein							118.0	123.0	121.0					5																	156946911		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156946911G>C	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.536C>G	5.37:g.156946911G>C	ENSP00000428654:p.Ser179Cys					ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.S110C	p.S179C	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	600	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	179					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.536C>G		.	.	.	.	.	.	.	.	.	.	G	12.15	1.851109	0.32699	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.01665	4.71;4.73;4.7	5.81	3.08	0.35506	.	0.390537	0.25089	N	0.033225	T	0.03827	0.0108	L	0.53249	1.67	0.09310	N	1	D	0.60575	0.988	P	0.52758	0.708	T	0.35400	-0.9790	10	0.54805	T	0.06	.	6.5323	0.22334	0.1518:0.0:0.7029:0.1453	.	179	Q9H013-2	.	C	179;181;179	ENSP00000257527:S179C;ENSP00000377588:S181C;ENSP00000428654:S179C	ENSP00000257527:S179C	S	-	2	0	ADAM19	156879489	0.010000	0.17322	0.004000	0.12327	0.178000	0.23041	1.740000	0.38228	0.382000	0.24878	-0.137000	0.14449	TCC		0.552	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1		NM_033274		41	150	0	0	0	0.009718	0	41	150		
DOCK2	1794	broad.mit.edu	37	5	169507184	169507184	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:169507184G>A	ENST00000256935.8	+	50	5264	c.5184G>A	c.(5182-5184)gaG>gaA	p.E1728E	DOCK2_ENST00000520908.1_Silent_p.E1220E|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.E789E	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1728					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAGCATGAGTTCATGAGTG	0.532																																						uc003maf.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(5182-5184)GAG>GAA		dedicator of cytokinesis 2							119.0	101.0	107.0					5																	169507184		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169507184G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5184G>A	5.37:g.169507184G>A						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.E1220E|DOCK2_uc003mah.2_Silent_p.E284E	p.E1728E	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		50	5264	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1728					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.5184G>A	CCDS4371.1																																																																																				0.532	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2		NM_004946		17	92	0	0	0	0.00499	0	17	92		
RANBP17	64901	broad.mit.edu	37	5	170667947	170667947	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:170667947C>A	ENST00000523189.1	+	23	2602	c.2438C>A	c.(2437-2439)tCc>tAc	p.S813Y	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	813					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGATCCTGTCCCTTGGGAGC	0.383			T	TRD@	ALL																																	uc003mba.2		NaN		Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				ovary(2)|central_nervous_system(1)	3						c.(2437-2439)TCC>TAC		RAN binding protein 17							147.0	144.0	145.0					5																	170667947		2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170667947C>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2438C>A	5.37:g.170667947C>A	ENSP00000427975:p.Ser813Tyr					RANBP17_uc003mbb.2_Missense_Mutation_p.S138Y|RANBP17_uc003mbd.2_Missense_Mutation_p.S176Y|RANBP17_uc010jjs.2_RNA	p.S813Y	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		23	2454	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	813					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.2438C>A	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669198	0.47677	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.68181	-0.31	5.21	5.21	0.72293	Armadillo-type fold (1);	0.112907	0.40144	N	0.001176	T	0.64897	0.2640	L	0.49455	1.56	0.48395	D	0.999647	B;B	0.23490	0.086;0.086	B;B	0.24269	0.052;0.052	T	0.64063	-0.6495	10	0.62326	D	0.03	-6.8777	18.7542	0.91826	0.0:1.0:0.0:0.0	.	813;813	Q546R4;Q9H2T7	.;RBP17_HUMAN	Y	813;243	ENSP00000427975:S813Y	ENSP00000427975:S813Y	S	+	2	0	RANBP17	170600552	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.443000	0.82685	0.557000	0.71058	TCC		0.383	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1		NM_022897		30	81	1	0	2.46105e-21	0.010818	2.61631e-21	30	81		
MAPK9	5601	broad.mit.edu	37	5	179666936	179666936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:179666936C>A	ENST00000452135.2	-	10	1346	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*	MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Nonsense_Mutation_p.E265*|MAPK9_ENST00000393360.3_Nonsense_Mutation_p.E350*|MAPK9_ENST00000455781.1_Nonsense_Mutation_p.E350*|MAPK9_ENST00000343111.6_Nonsense_Mutation_p.E350*			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	350					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)			TTCCATTCTTCAATTGCATGT	0.348																																						uc003mls.3		NaN																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4						c.(1048-1050)GAA>TAA		mitogen-activated protein kinase 9 isoform JNK2							197.0	173.0	181.0					5																	179666936		2203	4300	6503	SO:0001587	stop_gained	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.chr5:179666936C>A	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.1048G>T	5.37:g.179666936C>A	ENSP00000394560:p.Glu350*					MAPK9_uc003mlt.3_Nonsense_Mutation_p.E350*|MAPK9_uc010jlc.2_Nonsense_Mutation_p.E350*|MAPK9_uc003mlv.3_Nonsense_Mutation_p.E350*	p.E350*	NM_002752	NP_002743	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1319	-	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)	350					A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Nonsense_Mutation	SNP	ENST00000452135.2	37	c.1048G>T	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	40	8.207070	0.98706	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-34.8359	17.7387	0.88402	0.0:1.0:0.0:0.0	.	.	.	.	X	350;350;350;350;265	.	ENSP00000345524:E350X	E	-	1	0	MAPK9	179599542	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.711000	0.84669	2.614000	0.88457	0.655000	0.94253	GAA		0.348	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3				20	58	1	0	1.2644e-06	0.010504	1.29573e-06	20	58		
TFAP2A	7020	broad.mit.edu	37	6	10410427	10410427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:10410427G>A	ENST00000482890.1	-	3	539	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	TFAP2A_ENST00000497266.1_Intron|TFAP2A_ENST00000379613.3_Nonsense_Mutation_p.Q65*|TFAP2A_ENST00000379608.3_Nonsense_Mutation_p.Q57*|TFAP2A_ENST00000319516.4_Nonsense_Mutation_p.Q59*|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000379604.2_Nonsense_Mutation_p.Q63*			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	63	Gln/Pro-rich (transactivation domain).				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|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 (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TAGATAGGCTGGTAGGGTGGG	0.657																																						uc003myr.2		NaN																	0				ovary(1)	1						c.(187-189)CAG>TAG		transcription factor AP-2 alpha isoform a							33.0	39.0	37.0					6																	10410427		2202	4295	6497	SO:0001587	stop_gained	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10410427G>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.187C>T	6.37:g.10410427G>A	ENSP00000418541:p.Gln63*					TFAP2A_uc003myq.2_Nonsense_Mutation_p.Q57*|TFAP2A_uc003mys.2_Intron|TFAP2A_uc011dih.1_Nonsense_Mutation_p.Q63*|TFAP2A_uc003myt.2_Nonsense_Mutation_p.Q59*|TFAP2A_uc003myu.1_Nonsense_Mutation_p.Q63*|TFAP2A_uc003myv.1_Nonsense_Mutation_p.Q49*|TFAP2A_uc011dii.1_Nonsense_Mutation_p.Q59*|uc003myw.2_5'Flank	p.Q63*	NM_003220	NP_003211	P05549	AP2A_HUMAN			2	439	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	63			Gln/Pro-rich (transactivation domain).		Q13777|Q5TAV5|Q8N1C6	Nonsense_Mutation	SNP	ENST00000482890.1	37	c.187C>T	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521282	0.96416	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073;ENST00000465858	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-8.1202	14.1668	0.65483	0.0:0.0:0.8499:0.1501	.	.	.	.	X	65;63;59;57;63;63;108	.	ENSP00000316516:Q59X	Q	-	1	0	TFAP2A	10518413	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.816000	0.99350	2.154000	0.67381	0.585000	0.79938	CAG		0.657	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2		NM_003220		82	136	0	0	0	0.01441	0	82	136		
TRIM27	5987	broad.mit.edu	37	6	28891284	28891284	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:28891284G>A	ENST00000377199.3	-	1	482	c.126C>T	c.(124-126)cgC>cgT	p.R42R	TRIM27_ENST00000498117.1_5'Flank|TRIM27_ENST00000377194.3_Silent_p.R42R	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	42					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TGCCCCAGCAGCGGGCGAGGC	0.672			T	RET	papillary thyroid																																	uc003nlr.2		NaN		Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				ovary(1)	1						c.(124-126)CGC>CGT		ret finger protein							20.0	18.0	19.0					6																	28891284		2198	4291	6489	SO:0001819	synonymous_variant	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28891284G>A	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.126C>T	6.37:g.28891284G>A						TRIM27_uc003nls.2_Silent_p.R42R|TRIM27_uc003nlt.1_Silent_p.R42R	p.R42R	NM_006510	NP_006501	P14373	TRI27_HUMAN			1	485	-			42			RING-type.		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Silent	SNP	ENST00000377199.3	37	c.126C>T	CCDS4654.1																																																																																				0.672	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2		NM_030950		10	42	0	0	0	0.006214	0	10	42		
OR10C1	442194	broad.mit.edu	37	6	29408455	29408455	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:29408455C>A	ENST00000444197.2	+	1	1373	c.663C>A	c.(661-663)ctC>ctA	p.L221L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCGTATCCTCGTTACCATCT	0.592																																						uc011dlp.1		NaN																	0					0						c.(661-663)CTC>CTA		olfactory receptor, family 10, subfamily C,							206.0	222.0	216.0					6																	29408455		1511	2709	4220	SO:0001819	synonymous_variant	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408455C>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.663C>A	6.37:g.29408455C>A						OR11A1_uc010jrh.1_Intron	p.L221L	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	663	+			221			Cytoplasmic (Potential).		Q5SUN7|Q96R18	Silent	SNP	ENST00000444197.2	37	c.663C>A	CCDS34364.1																																																																																				0.592	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2				70	265	1	0	1.43987e-31	0.01441	1.54514e-31	70	265		
HLA-DRA	3122	broad.mit.edu	37	6	32407746	32407746	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:32407746C>T	ENST00000374982.5	+	1	92	c.19C>T	c.(19-21)Cct>Tct	p.P7S	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.P7S			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	7					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AAGTGGAGTCCCTGTGCTAGG	0.473									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																													uc003obh.2		NaN																	0				ovary(1)|skin(1)	2						c.(19-21)CCT>TCT		major histocompatibility complex, class II, DR							104.0	93.0	97.0					6																	32407746		2203	4300	6503	SO:0001583	missense	3122	T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32407746C>T		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.19C>T	6.37:g.32407746C>T	ENSP00000364121:p.Pro7Ser					HLA-DRA_uc003obi.2_Missense_Mutation_p.P7S	p.P7S	NM_019111	NP_061984	P01903	DRA_HUMAN			1	100	+			7					A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37	c.19C>T		.	.	.	.	.	.	.	.	.	.	.	11.57	1.679391	0.29783	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.01572	4.76;4.97	5.15	0.342	0.15996	.	1.002150	0.08038	N	0.994625	T	0.00724	0.0024	L	0.54323	1.7	0.09310	N	1	B;B	0.32717	0.023;0.381	B;B	0.28011	0.005;0.085	T	0.46359	-0.9197	10	0.87932	D	0	.	3.63	0.08128	0.1663:0.4779:0.0:0.3558	.	7;7	Q30118;P01903	.;DRA_HUMAN	S	7	ENSP00000378786:P7S;ENSP00000364121:P7S	ENSP00000364121:P7S	P	+	1	0	HLA-DRA	32515724	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.201000	0.09464	0.134000	0.18681	-0.812000	0.03155	CCT		0.473	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3		NM_019111		17	26	0	0	0	0.008871	0	17	26		
PFDN6	10471	broad.mit.edu	37	6	33257970	33257970	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:33257970G>A	ENST00000395131.1	+	3	490	c.84G>A	c.(82-84)tcG>tcA	p.S28S	WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000374606.5_Silent_p.S28S|PFDN6_ENST00000374607.1_Silent_p.S28S|RGL2_ENST00000437840.2_5'Flank|PFDN6_ENST00000463584.1_Silent_p.S28S|WDR46_ENST00000374617.4_5'Flank|PFDN6_ENST00000374610.2_Silent_p.S28S			O15212	PFD6_HUMAN	prefoldin subunit 6	28					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(1)	2						AATCCATGTCGGGGAGGCAGA	0.468																																						uc003odt.1		NaN																	0					0						c.(82-84)TCG>TCA		HLA class II region expressed gene KE2							87.0	85.0	86.0					6																	33257970		2203	4300	6503	SO:0001819	synonymous_variant	10471				'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly	prefoldin complex	chaperone binding|unfolded protein binding	g.chr6:33257970G>A	BC039033	CCDS4773.1	6p21.3	2006-02-24	2006-02-24	2006-02-24	ENSG00000204220	ENSG00000204220			4926	protein-coding gene	gene with protein product		605660	"""HLA class II region expressed gene KE2"", ""prefoldin 6"""	HKE2		9545376, 9630229	Standard	NM_001185181		Approved	KE-2, H2-KE2, PFD6	uc031sny.1	O15212	OTTHUMG00000031247	ENST00000395131.1:c.84G>A	6.37:g.33257970G>A						WDR46_uc003ods.2_5'Flank|WDR46_uc011dra.1_5'Flank|WDR46_uc010juo.1_5'Flank|PFDN6_uc010jup.1_Silent_p.S28S	p.S28S	NM_014260	NP_055075	O15212	PFD6_HUMAN			3	199	+			28						Silent	SNP	ENST00000395131.1	37	c.84G>A	CCDS4773.1																																																																																				0.468	PFDN6-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276361.1		NM_014260		14	67	0	0	0	0.00245	0	14	67		
ITPR3	3710	broad.mit.edu	37	6	33632979	33632979	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:33632979G>C	ENST00000374316.5	+	14	2458	c.1398G>C	c.(1396-1398)caG>caC	p.Q466H	ITPR3_ENST00000605930.1_Missense_Mutation_p.Q466H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	466					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TCATCAGCCAGAATGACCGCA	0.567																																						uc011drk.1		NaN																	0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(1396-1398)CAG>CAC		inositol 1,4,5-triphosphate receptor, type 3							79.0	82.0	81.0					6																	33632979		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33632979G>C	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1398G>C	6.37:g.33632979G>C	ENSP00000363435:p.Gln466His						p.Q466H	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			13	1617	+			466			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.1398G>C	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310539	0.40895	.	.	ENSG00000096433	ENST00000374316	D	0.89050	-2.46	5.12	5.12	0.69794	.	0.312918	0.32218	N	0.006413	D	0.90225	0.6944	L	0.44542	1.39	0.40221	D	0.977734	D	0.71674	0.998	D	0.65443	0.935	D	0.89427	0.3714	10	0.39692	T	0.17	-17.8037	18.5566	0.91088	0.0:0.0:1.0:0.0	.	466	Q14573	ITPR3_HUMAN	H	466	ENSP00000363435:Q466H	ENSP00000363435:Q466H	Q	+	3	2	ITPR3	33740957	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	4.572000	0.60886	2.401000	0.81631	0.557000	0.71058	CAG		0.567	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2		NM_002224		42	161	0	0	0	0.01441	0	42	161		
HMGA1	3159	broad.mit.edu	37	6	34208621	34208621	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:34208621G>C	ENST00000447654.1	+	2	553	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	HMGA1_ENST00000374116.3_Missense_Mutation_p.E22Q|HMGA1_ENST00000478214.1_3'UTR|HMGA1_ENST00000347617.6_Missense_Mutation_p.E22Q|HMGA1_ENST00000311487.5_Missense_Mutation_p.E22Q|HMGA1_ENST00000401473.3_Missense_Mutation_p.E22Q|HMGA1_ENST00000395004.3_Missense_Mutation_p.E22Q	NM_145901.2|NM_145902.2	NP_665908.1|NP_665909.1	P17096	HMGA1_HUMAN	high mobility group AT-hook 1	22					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA unwinding involved in DNA replication (GO:0006268)|establishment of integrated proviral latency (GO:0075713)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chromatin silencing (GO:0031936)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|oncogene-induced cell senescence (GO:0090402)|positive regulation of cellular senescence (GO:2000774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			lung(1)	1						GGACGGCACTGAGAAGCGGGG	0.622			T	?	"""microfollicular thyroid adenoma,  various benign mesenchymal tumors,"""																																	uc003oit.2		NaN		Dom	yes		6	6p21	3159	T	high mobility group AT-hook 1			"""E, M"""	NaN		microfollicular thyroid adenoma| various benign mesenchymal tumors,		0					0						c.(64-66)GAG>CAG		high mobility group AT-hook 1 isoform a							31.0	39.0	36.0					6																	34208621		2203	4300	6503	SO:0001583	missense	3159				DNA unwinding involved in replication|initiation of viral infection|interspecies interaction between organisms|loss of chromatin silencing|nucleosome disassembly|protein complex assembly|provirus integration	chromatin|cytosol|transcription factor complex	AT DNA binding|enzyme binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|protein binding|retinoid X receptor binding|sequence-specific DNA binding transcription factor activity	g.chr6:34208621G>C	AF176039	CCDS4788.1, CCDS4789.1	6p21	2011-07-01	2002-07-25	2002-07-26	ENSG00000137309	ENSG00000137309		"""High-mobility group / Canonical"""	5010	protein-coding gene	gene with protein product		600701	"""high-mobility group (nonhistone chromosomal) protein isoforms I and Y"""	HMGIY		8414980, 11406267	Standard	NM_145903		Approved		uc011dso.2	P17096	OTTHUMG00000014539	ENST00000447654.1:c.64G>C	6.37:g.34208621G>C	ENSP00000399888:p.Glu22Gln					HMGA1_uc011dso.1_Missense_Mutation_p.E22Q|HMGA1_uc003oiv.2_Missense_Mutation_p.E22Q|HMGA1_uc003oiw.2_Missense_Mutation_p.E22Q|HMGA1_uc003oiu.2_Missense_Mutation_p.E22Q|HMGA1_uc003oiy.2_Missense_Mutation_p.E22Q|HMGA1_uc003oiz.2_Missense_Mutation_p.E22Q|HMGA1_uc003oja.2_Missense_Mutation_p.E22Q|HMGA1_uc003oix.2_Missense_Mutation_p.E22Q|HMGA1_uc010jvl.2_RNA|HMGA1_uc003ojc.2_Missense_Mutation_p.E22Q|HMGA1_uc011dsp.1_RNA|HMGA1_uc003ojd.2_Missense_Mutation_p.E22Q	p.E22Q	NM_145899	NP_665906	P17096	HMGA1_HUMAN			3	386	+			22			A.T hook 1.		P10910|Q5T6U9|Q9UKB0	Missense_Mutation	SNP	ENST00000447654.1	37	c.64G>C	CCDS4789.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505643	0.64410	.	.	ENSG00000137309	ENST00000311487;ENST00000401473;ENST00000347617;ENST00000327014;ENST00000357318;ENST00000447654;ENST00000395004;ENST00000374116	T;T;T	0.26067	1.76;1.76;1.76	4.91	4.91	0.64330	HMG-I/HMG-Y, DNA-binding, conserved site (1);	0.000000	0.64402	D	0.000011	T	0.26122	0.0637	L	0.27053	0.805	0.41155	D	0.986055	D;P;P;P	0.89917	1.0;0.769;0.659;0.947	D;P;B;D	0.87578	0.998;0.607;0.403;0.932	T	0.01468	-1.1347	10	0.33940	T	0.23	.	13.7743	0.63044	0.0:0.0:1.0:0.0	.	22;22;22;22	B4DWA0;P17096-2;Q5T6U8;P17096	.;.;.;HMGA1_HUMAN	Q	22	ENSP00000385693:E22Q;ENSP00000288245:E22Q;ENSP00000363230:E22Q	ENSP00000308227:E22Q	E	+	1	0	HMGA1	34316599	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.443000	0.66581	2.710000	0.92621	0.561000	0.74099	GAG		0.622	HMGA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040214.2		NM_145899		78	100	0	0	0	0.01441	0	78	100		
FANCE	2178	broad.mit.edu	37	6	35423591	35423591	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:35423591C>T	ENST00000229769.2	+	2	501	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	106					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GATGGCCGTTCGGCCATCGCT	0.607			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003oko.1		NaN	yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	N|F|S	"""Fanconi anemia, complementation group E"""			L		AML|leukemia			0				ovary(1)|lung(1)|skin(1)	3						c.(316-318)CGG>TGG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group E							55.0	59.0	58.0					6																	35423591		2203	4300	6503	SO:0001583	missense	2178	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35423591C>T	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.316C>T	6.37:g.35423591C>T	ENSP00000229769:p.Arg106Trp					FANCE_uc010jvw.1_Missense_Mutation_p.R106W	p.R106W	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN			2	501	+			106					A8K907|Q4ZGH2	Missense_Mutation	SNP	ENST00000229769.2	37	c.316C>T	CCDS4805.1	.	.	.	.	.	.	.	.	.	.	C	3.951	-0.012327	0.07727	.	.	ENSG00000112039	ENST00000229769	T	0.49720	0.77	5.37	-2.48	0.06423	.	0.783908	0.11809	N	0.527332	T	0.10895	0.0266	L	0.38838	1.175	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.24404	-1.0161	10	0.36615	T	0.2	0.3208	0.7837	0.01045	0.2524:0.2723:0.111:0.3643	.	106	Q9HB96	FANCE_HUMAN	W	106	ENSP00000229769:R106W	ENSP00000229769:R106W	R	+	1	2	FANCE	35531569	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.897000	0.01603	-1.025000	0.03334	-0.258000	0.10820	CGG		0.607	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1				43	121	0	0	0	0.013114	0	43	121		
KHDRBS2	202559	broad.mit.edu	37	6	62688006	62688006	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:62688006G>A	ENST00000281156.4	-	4	726	c.448C>T	c.(448-450)Cat>Tat	p.H150Y		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.H150Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCCAATGCATGACTCATACGT	0.373																																						uc003peg.2		NaN																	1	Substitution - Missense(1)	p.H150Y(1)	skin(1)	skin(7)|ovary(3)|liver(1)	11						c.(448-450)CAT>TAT		KH domain-containing, RNA-binding, signal							116.0	110.0	112.0					6																	62688006		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62688006G>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.448C>T	6.37:g.62688006G>A	ENSP00000281156:p.His150Tyr						p.H150Y	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	4	695	-			150					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.448C>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017967	0.75275	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.19250	2.16	5.46	5.46	0.80206	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.27524	0.0676	L	0.31294	0.92	0.80722	D	1	D	0.65815	0.995	D	0.72075	0.976	T	0.02450	-1.1157	10	0.45353	T	0.12	-4.215	19.3174	0.94220	0.0:0.0:1.0:0.0	.	150	Q5VWX1	KHDR2_HUMAN	Y	150	ENSP00000281156:H150Y	ENSP00000281156:H150Y	H	-	1	0	KHDRBS2	62745965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.872000	0.87187	2.569000	0.86673	0.650000	0.86243	CAT		0.373	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2		NM_152688		19	56	0	0	0	0.014323	0	19	56		
MTO1	25821	broad.mit.edu	37	6	74171644	74171644	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:74171644G>T	ENST00000370300.4	+	1	157	c.67G>T	c.(67-69)Gca>Tca	p.A23S	MTO1_ENST00000370305.1_Intron|MTO1_ENST00000415954.2_Missense_Mutation_p.A23S|RNU6-975P_ENST00000384296.1_RNA|MTO1_ENST00000498286.1_Missense_Mutation_p.A23S	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	23					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						ATTTCCGTTGGCACGGTTGAG	0.592																																						uc003pgy.3		NaN																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(67-69)GCA>TCA		mitochondrial translation optimization 1 homolog							87.0	85.0	86.0					6																	74171644		2203	4300	6503	SO:0001583	missense	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74171644G>T	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.67G>T	6.37:g.74171644G>T	ENSP00000359323:p.Ala23Ser					MTO1_uc010kav.2_Missense_Mutation_p.A23S|MTO1_uc003pgz.3_Missense_Mutation_p.A23S|MTO1_uc003pha.3_5'UTR|MTO1_uc003phb.3_Intron|MTO1_uc003phc.1_5'Flank	p.A23S	NM_133645	NP_598400	Q9Y2Z2	MTO1_HUMAN			1	191	+			23					B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	ENST00000370300.4	37	c.67G>T	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285835	0.23478	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370300	.	.	.	5.24	-0.191	0.13252	.	0.619788	0.15439	N	0.262288	T	0.07908	0.0198	N	0.14661	0.345	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.10450	0.005;0.002;0.001	T	0.41034	-0.9531	9	0.18710	T	0.47	-0.0427	8.8584	0.35242	0.0:0.3847:0.348:0.2673	.	23;23;23	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	S	23	.	ENSP00000350506:A23S	A	+	1	0	MTO1	74228365	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.092000	0.11129	0.051000	0.15978	-0.273000	0.10243	GCA		0.592	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2		NM_012123		42	115	1	0	1.7489e-18	0.011902	1.8549e-18	42	115		
TAAR8	83551	broad.mit.edu	37	6	132874467	132874467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:132874467G>C	ENST00000275200.1	+	1	636	c.636G>C	c.(634-636)atG>atC	p.M212I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	212					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CCCTTGTTATGATAATTCTTT	0.328																																						uc011ecj.1		NaN																	0				ovary(1)	1						c.(634-636)ATG>ATC		trace amine associated receptor 8							153.0	155.0	154.0					6																	132874467		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874467G>C	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.636G>C	6.37:g.132874467G>C	ENSP00000275200:p.Met212Ile						p.M212I	NM_053278	NP_444508	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	636	+	Breast(56;0.112)		212			Helical; Name=5; (Potential).		Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.636G>C	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	G	9.290	1.050374	0.19827	.	.	ENSG00000146385	ENST00000275200	T	0.31510	1.49	4.72	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.23926	0.0579	L	0.60455	1.87	0.31022	N	0.71801	B	0.23854	0.092	B	0.33339	0.162	T	0.11916	-1.0568	10	0.45353	T	0.12	-27.6786	18.2193	0.89896	0.0:0.0:1.0:0.0	.	212	Q969N4	TAAR8_HUMAN	I	212	ENSP00000275200:M212I	ENSP00000275200:M212I	M	+	3	0	TAAR8	132916160	0.976000	0.34144	0.870000	0.34147	0.313000	0.28021	1.638000	0.37165	2.593000	0.87608	0.655000	0.94253	ATG		0.328	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1		NM_053278		9	22	0	0	0	0.004482	0	9	22		
SASH1	23328	broad.mit.edu	37	6	148865205	148865205	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:148865205G>C	ENST00000367467.3	+	18	3074	c.2599G>C	c.(2599-2601)Gaa>Caa	p.E867Q		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	867					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GATTGTACCTGAAGTGCCACA	0.572																																						uc003qme.1		NaN																	0				central_nervous_system(1)	1						c.(2599-2601)GAA>CAA		SAM and SH3 domain containing 1							117.0	128.0	125.0					6																	148865205		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148865205G>C	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2599G>C	6.37:g.148865205G>C	ENSP00000356437:p.Glu867Gln					SASH1_uc011eeb.1_Missense_Mutation_p.E628Q|SASH1_uc003qmf.1_Missense_Mutation_p.E277Q	p.E867Q	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3074	+		Ovarian(120;0.0169)	867					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.2599G>C	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	g	2.916	-0.224196	0.06061	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.38560	1.13	5.36	0.398	0.16319	.	0.649242	0.16053	N	0.231867	T	0.14442	0.0349	L	0.51422	1.61	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.003	T	0.32745	-0.9895	10	0.26408	T	0.33	-7.3983	9.6094	0.39654	0.1472:0.2079:0.645:0.0	.	848;867	Q6P4R9;O94885	.;SASH1_HUMAN	Q	867;628;277	ENSP00000356437:E867Q	ENSP00000356437:E867Q	E	+	1	0	SASH1	148906898	0.951000	0.32395	0.011000	0.14972	0.003000	0.03518	1.486000	0.35530	-0.499000	0.06623	-1.811000	0.00612	GAA		0.572	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1		NM_015278		196	111	0	0	0	0.01441	0	196	111		
ULBP1	80329	broad.mit.edu	37	6	150289814	150289814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:150289814C>G	ENST00000229708.3	+	2	200	c.157C>G	c.(157-159)Caa>Gaa	p.Q53E		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	53	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GTGTGAAGTTCAAGGCCTGGT	0.463																																						uc003qnp.2		NaN																	0				pancreas(1)	1						c.(157-159)CAA>GAA		UL16 binding protein 1 precursor							125.0	123.0	123.0					6																	150289814		2203	4300	6503	SO:0001583	missense	80329				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	g.chr6:150289814C>G	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.157C>G	6.37:g.150289814C>G	ENSP00000229708:p.Gln53Glu						p.Q53E	NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)	2	200	+		Ovarian(120;0.0907)	53			MHC class I alpha-1 like.		Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	ENST00000229708.3	37	c.157C>G	CCDS5223.1	.	.	.	.	.	.	.	.	.	.	c	13.16	2.154886	0.38021	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.07114	3.22;3.22	2.13	2.13	0.27403	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.09512	0.0234	M	0.74647	2.275	0.09310	N	1	P	0.47841	0.901	P	0.52793	0.709	T	0.08638	-1.0712	9	0.87932	D	0	.	7.7659	0.28980	0.0:1.0:0.0:0.0	.	53	Q9BZM6	N2DL1_HUMAN	E	53	ENSP00000356314:Q53E;ENSP00000229708:Q53E	ENSP00000229708:Q53E	Q	+	1	0	ULBP1	150331507	0.000000	0.05858	0.193000	0.23327	0.121000	0.20230	0.517000	0.22832	1.492000	0.48499	0.195000	0.17529	CAA		0.463	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2				145	73	0	0	0	0.01441	0	145	73		
SYNE1	23345	broad.mit.edu	37	6	152768727	152768727	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:152768727C>T	ENST00000367255.5	-	29	4136	c.3535G>A	c.(3535-3537)Gag>Aag	p.E1179K	SYNE1_ENST00000413186.2_Missense_Mutation_p.E1179K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1186K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1245K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1179K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1169K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1179K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1186K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1179					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGAGGGTCTCACCCCTTTTG	0.423										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3535-3537)GAG>AAG		spectrin repeat containing, nuclear envelope 1							114.0	112.0	113.0					6																	152768727		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152768727C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3535G>A	6.37:g.152768727C>T	ENSP00000356224:p.Glu1179Lys	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E1186K|SYNE1_uc003qou.3_Missense_Mutation_p.E1179K|SYNE1_uc010kjb.1_Missense_Mutation_p.E1162K|SYNE1_uc003qow.2_Missense_Mutation_p.E474K|SYNE1_uc003qox.1_Missense_Mutation_p.E695K	p.E1179K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	29	4137	-		Ovarian(120;0.0955)	1179			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3535G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812558	0.90707	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.9	5.9	0.94986	.	0.093054	0.46442	D	0.000287	T	0.49558	0.1564	M	0.68952	2.095	0.80722	D	1	D;P;D;D;P;D	0.59767	0.986;0.893;0.982;0.982;0.893;0.982	P;B;P;P;B;P	0.61800	0.852;0.231;0.894;0.763;0.231;0.894	T	0.39563	-0.9608	10	0.48119	T	0.1	.	18.4592	0.90732	0.0:1.0:0.0:0.0	.	1162;1179;1169;1179;1179;1186	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	K	1179;1186;1179;1186;1245;1179;1169;1179	ENSP00000356224:E1179K;ENSP00000396024:E1186K;ENSP00000265368:E1179K;ENSP00000390975:E1186K;ENSP00000341887:E1245K;ENSP00000356222:E1179K;ENSP00000356217:E1169K;ENSP00000414510:E1179K	ENSP00000265368:E1179K	E	-	1	0	SYNE1	152810420	1.000000	0.71417	0.838000	0.33150	0.543000	0.35085	6.833000	0.75334	2.798000	0.96311	0.650000	0.86243	GAG		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		69	34	0	0	0	0.01441	0	69	34		
MYCT1	80177	broad.mit.edu	37	6	153043097	153043097	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:153043097G>C	ENST00000367245.5	+	2	425	c.417G>C	c.(415-417)ctG>ctC	p.L139L	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	139						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ACCTCAGCCTGGCCAGTCTCA	0.493																																						uc003qpd.3		NaN																	0				ovary(1)	1						c.(415-417)CTG>CTC		myc target 1							111.0	109.0	110.0					6																	153043097		2203	4300	6503	SO:0001819	synonymous_variant	80177					nucleus		g.chr6:153043097G>C	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.417G>C	6.37:g.153043097G>C						MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Silent_p.L139L	p.L139L	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	425	+		Ovarian(120;0.0654)	139					Q8N396|Q8TBE8|Q9H763	Silent	SNP	ENST00000367245.5	37	c.417G>C	CCDS5239.1	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098618	0.20552	.	.	ENSG00000120279	ENST00000532295	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	T	0.63474	0.2514	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61983	-0.6950	4	.	.	.	-14.3471	14.1996	0.65693	0.0712:0.0:0.9288:0.0	.	.	.	.	S	120	.	.	W	+	2	0	MYCT1	153084790	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.741000	0.47426	2.727000	0.93392	0.579000	0.79373	TGG		0.493	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2		NM_025107		60	23	0	0	0	0.01441	0	60	23		
PSMB1	5689	broad.mit.edu	37	6	170862293	170862293	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:170862293C>T	ENST00000262193.6	-	1	136	c.38G>A	c.(37-39)aGa>aAa	p.R13K	PSMB1_ENST00000462957.1_5'Flank|TBP_ENST00000230354.6_5'Flank|TBP_ENST00000392092.2_5'Flank|TBP_ENST00000540980.1_5'Flank	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	13					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 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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	CCCCAAGTCTCTGCCAGGAGC	0.607																																						uc011ehe.1		NaN																	0				ovary(1)	1						c.(37-39)AGA>AAA		proteasome beta 1 subunit precursor	Bortezomib(DB00188)						43.0	39.0	40.0					6																	170862293		2203	4299	6502	SO:0001583	missense	5689				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|interspecies interaction between organisms|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|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:170862293C>T	D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"""Proteasome (prosome, macropain) subunits"""	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.38G>A	6.37:g.170862293C>T	ENSP00000262193:p.Arg13Lys					PSMB1_uc003qxq.2_RNA|PSMB1_uc003qxr.2_5'Flank|TBP_uc003qxt.2_5'Flank|TBP_uc003qxu.2_5'Flank|TBP_uc011ehf.1_5'Flank	p.R13K	NM_002793	NP_002784	P20618	PSB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	1	125	-		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)	13					B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	37	c.38G>A	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	C	0.570	-0.841655	0.02671	.	.	ENSG00000008018	ENST00000262193;ENST00000392093	T	0.21361	2.01	4.37	2.48	0.30137	.	0.508491	0.20291	N	0.095259	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.44605	-0.9317	10	0.07990	T	0.79	-6.0395	6.6576	0.22996	0.3857:0.3725:0.2417:0.0	.	13	P20618	PSB1_HUMAN	K	13;18	ENSP00000262193:R13K	ENSP00000262193:R13K	R	-	2	0	PSMB1	170704218	0.001000	0.12720	0.305000	0.25099	0.216000	0.24613	1.241000	0.32743	2.252000	0.74401	0.563000	0.77884	AGA		0.607	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2		NM_002793		14	5	0	0	0	0.004007	0	14	5		
SDK1	221935	broad.mit.edu	37	7	4051844	4051844	+	Silent	SNP	G	G	T	rs202017032	byFrequency	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:4051844G>T	ENST00000404826.2	+	16	2536	c.2397G>T	c.(2395-2397)ggG>ggT	p.G799G	SDK1_ENST00000389531.3_Silent_p.G799G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	799	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCACAACGGGGTGTTGCGTG	0.537													g|||	2	0.000399361	0.0	0.0014	5008	,	,		16051	0.0		0.001	False		,,,				2504	0.0					uc003smx.2		NaN																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(2395-2397)GGG>GGT		sidekick 1 precursor							110.0	111.0	111.0					7																	4051844		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4051844G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2397G>T	7.37:g.4051844G>T						SDK1_uc010kso.2_Silent_p.G75G	p.G799G	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	16	2536	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	799			Fibronectin type-III 2.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.2397G>T	CCDS34590.1																																																																																				0.537	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1		NM_152744		89	90	1	0	3.66986e-57	0.01441	4.01391e-57	89	90		
ACTB	60	broad.mit.edu	37	7	5568242	5568242	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:5568242C>T	ENST00000331789.5	-	4	663	c.472G>A	c.(472-474)Ggg>Agg	p.G158R	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	158					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGGGTGACCCCGTCACCGGAG	0.607																																						uc003sos.3		NaN																	0					0						c.(472-474)GGG>AGG		beta actin							80.0	80.0	80.0					7																	5568242		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568242C>T	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.472G>A	7.37:g.5568242C>T	ENSP00000349960:p.Gly158Arg					ACTB_uc003sor.3_Missense_Mutation_p.G36R|ACTB_uc003sot.3_Missense_Mutation_p.G158R|ACTB_uc003soq.3_Missense_Mutation_p.G36R|ACTB_uc010ksy.2_Missense_Mutation_p.G36R	p.G158R	NM_001101	NP_001092	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	3	508	-		Ovarian(82;0.0606)	158					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.472G>A	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361158	0.61403	.	.	ENSG00000075624	ENST00000331789;ENST00000400179;ENST00000320713;ENST00000432588	D;D	0.98060	-4.69;-3.45	5.31	5.31	0.75309	.	0.104265	0.41605	D	0.000854	D	0.99124	0.9698	H	0.95043	3.615	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.99293	1.0899	10	0.87932	D	0	.	16.5292	0.84353	0.0:1.0:0.0:0.0	.	158	P60709	ACTB_HUMAN	R	158;130;77;158	ENSP00000349960:G158R;ENSP00000407473:G158R	ENSP00000440549:G77R	G	-	1	0	ACTB	5534768	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	7.533000	0.81994	2.500000	0.84329	0.650000	0.86243	GGG		0.607	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4		NM_001101		84	264	0	0	0	0.01441	0	84	264		
SOSTDC1	25928	broad.mit.edu	37	7	16502559	16502559	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:16502559G>A	ENST00000307068.4	-	2	415	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	SOSTDC1_ENST00000396652.1_Missense_Mutation_p.R103C	NM_015464.2	NP_056279.1	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	79	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				hair follicle morphogenesis (GO:0031069)|mammary gland bud morphogenesis (GO:0060648)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell fate commitment (GO:0010454)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TTGGTGGAACGCAGTTCCCGG	0.502																																						uc003stg.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(235-237)CGT>TGT		sclerostin domain containing 1 precursor							41.0	41.0	41.0					7																	16502559		2203	4300	6503	SO:0001583	missense	25928				Wnt receptor signaling pathway			g.chr7:16502559G>A	AB059270	CCDS5360.1	7p21.2	2007-08-01			ENSG00000171243	ENSG00000171243			21748	protein-coding gene	gene with protein product	"""ectodin"""	609675					Standard	NM_015464		Approved	DKFZp564D206, USAG1	uc003stg.3	Q6X4U4	OTTHUMG00000090807	ENST00000307068.4:c.235C>T	7.37:g.16502559G>A	ENSP00000304930:p.Arg79Cys					SOSTDC1_uc003sth.2_Missense_Mutation_p.R103C	p.R79C	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	2	416	-	Lung NSC(10;0.185)		79			CTCK.		A8MUA6|Q96HJ7|Q9Y3U3	Missense_Mutation	SNP	ENST00000307068.4	37	c.235C>T	CCDS5360.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251290	0.59212	.	.	ENSG00000171243	ENST00000307068;ENST00000396652	T;T	0.80214	-1.35;-1.35	5.5	5.5	0.81552	Cystine knot, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88771	0.6527	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89616	0.3845	10	0.87932	D	0	-13.1275	13.5449	0.61697	0.0:0.0:0.7258:0.2742	.	103;79	A8MUA6;Q6X4U4	.;SOSD1_HUMAN	C	79;103	ENSP00000304930:R79C;ENSP00000379889:R103C	ENSP00000304930:R79C	R	-	1	0	SOSTDC1	16469084	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.218000	0.42889	2.599000	0.87857	0.655000	0.94253	CGT		0.502	SOSTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207603.1		NM_015464		40	38	0	0	0	0.006999	0	40	38		
BZW2	28969	broad.mit.edu	37	7	16745684	16745684	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:16745684G>C	ENST00000433922.2	+	12	1409		c.e12-1		BZW2_ENST00000407633.1_Splice_Site|BZW2_ENST00000258761.3_Splice_Site|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000405202.1_Splice_Site	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2						cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TTCTCTCCTAGAATCCGAATC	0.428																																						uc003stl.2		NaN																	0				ovary(2)	2						c.e12-1		basic leucine zipper and W2 domains 2							131.0	128.0	129.0					7																	16745684		2203	4300	6503	SO:0001630	splice_region_variant	28969				cell differentiation|nervous system development|RNA metabolic process		protein binding	g.chr7:16745684G>C	AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.1232-1G>C	7.37:g.16745684G>C						BZW2_uc003stm.2_Splice_Site_p.E217_splice|BZW2_uc003stj.2_Splice_Site_p.E411_splice|BZW2_uc003stk.2_Splice_Site_p.E335_splice|BZW2_uc003stp.2_Splice_Site_p.E259_splice|BZW2_uc010kua.2_Splice_Site_p.E370_splice	p.E411_splice	NM_001159767	NP_001153239	Q9Y6E2	BZW2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	12	1410	+	Lung NSC(10;0.0367)|all_lung(11;0.0837)							A4D123|Q3B779|Q96JW5|Q9H3F7	Splice_Site	SNP	ENST00000433922.2	37	c.1232_splice	CCDS5362.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636448	0.67130	.	.	ENSG00000136261	ENST00000258761;ENST00000433922;ENST00000405202;ENST00000407633	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8667	0.96806	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BZW2	16712209	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.733000	0.74796	2.773000	0.95371	0.655000	0.94253	.		0.428	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2		NM_014038	Intron	20	59	0	0	0	0.010504	0	20	59		
CDCA7L	55536	broad.mit.edu	37	7	21951271	21951271	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:21951271C>G	ENST00000406877.3	-	3	546	c.267G>C	c.(265-267)caG>caC	p.Q89H	CDCA7L_ENST00000373934.4_Intron|CDCA7L_ENST00000356195.5_Missense_Mutation_p.Q55H|CDCA7L_ENST00000465490.1_Intron	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	89	PSIP1-binding.				positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCAGATCACTCTGCGTAAATC	0.388																																						uc010kuk.2		NaN																	0					0						c.(265-267)CAG>CAC		cell division cycle associated 7-like isoform 1							181.0	170.0	173.0					7																	21951271		2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21951271C>G		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.267G>C	7.37:g.21951271C>G	ENSP00000383986:p.Gln89His					CDCA7L_uc003sve.3_Missense_Mutation_p.Q55H|CDCA7L_uc010kul.2_Intron|CDCA7L_uc003svf.3_Missense_Mutation_p.Q88H|CDCA7L_uc011jyk.1_Missense_Mutation_p.Q89H	p.Q89H	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN			3	387	-			89			PSIP1-binding.		A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.267G>C	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132510	0.37630	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000457951;ENST00000447180;ENST00000435031	T;T;T	0.48522	0.92;0.91;0.81	5.71	4.83	0.62350	.	0.473844	0.21864	N	0.067986	T	0.46405	0.1391	L	0.47716	1.5	0.80722	D	1	P;P;P	0.48503	0.855;0.855;0.911	B;B;P	0.47941	0.359;0.359;0.562	T	0.47812	-0.9088	10	0.72032	D	0.01	-7.2698	8.2509	0.31717	0.0:0.8154:0.0:0.1846	.	89;89;88	A8K8X5;Q96GN5;Q96GN5-2	.;CDA7L_HUMAN;.	H	55;89;42;54;55	ENSP00000348523:Q55H;ENSP00000383986:Q89H;ENSP00000406616:Q42H	ENSP00000348523:Q55H	Q	-	3	2	CDCA7L	21917796	0.997000	0.39634	0.976000	0.42696	0.541000	0.35023	1.170000	0.31883	1.425000	0.47237	0.462000	0.41574	CAG		0.388	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4		NM_018719		64	66	0	0	0	0.01441	0	64	66		
AVL9	23080	broad.mit.edu	37	7	32623518	32623518	+	Nonstop_Mutation	SNP	G	G	C	rs575367113		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:32623518G>C	ENST00000318709.4	+	16	2167	c.1946G>C	c.(1945-1947)tGa>tCa	p.*649S	AVL9_ENST00000409301.1_Nonstop_Mutation_p.*631S|AVL9_ENST00000404479.1_Intron	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	0					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GAGAAGCCTTGAGCAAGGCGT	0.522																																						uc003tcv.1		NaN																	0					0						c.(1945-1947)TGA>TCA		AVL9 homolog (S. cerevisiase)							78.0	67.0	70.0					7																	32623518		2203	4300	6503	SO:0001578	stop_lost	23080					integral to membrane		g.chr7:32623518G>C	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1946G>C	7.37:g.32623518G>C	ENSP00000315568:p.*649Serext*13					AVL9_uc011kai.1_Intron|uc003tcw.2_Intron|AVL9_uc010kwj.1_Missense_Mutation_p.E433Q	p.*649S	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN			16	2092	+			649					Q92573	Nonstop_Mutation	SNP	ENST00000318709.4	37	c.1946G>C	CCDS34613.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.47|11.47	1.648450|1.648450	0.29336|0.29336	.|.	.|.	ENSG00000105778|ENSG00000105778	ENST00000446718|ENST00000318709;ENST00000409301;ENST00000329714	T|.	0.51325|.	0.71|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|.	.|.	.|.	.|.	T|.	0.65312|.	0.2679|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.62450|.	-0.6852|.	6|.	0.45353|.	T|.	0.12|.	.|.	13.0045|13.0045	0.58696|0.58696	0.074:0.0:0.926:0.0|0.074:0.0:0.926:0.0	.|.	.|.	.|.	.|.	Q|S	523|649;631;591	ENSP00000395134:E523Q|.	ENSP00000395134:E523Q|.	E|X	+|+	1|2	0|2	AVL9|AVL9	32590043|32590043	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.310000|0.310000	0.27922|0.27922	1.942000|1.942000	0.40243|0.40243	2.770000|2.770000	0.95276|0.95276	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.522	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1		NM_015060		8	31	0	0	0	0.00308	0	8	31		
PKD1L1	168507	broad.mit.edu	37	7	47894544	47894544	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:47894544G>C	ENST00000289672.2	-	30	4845	c.4795C>G	c.(4795-4797)Cta>Gta	p.L1599V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1599					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCTATCTGTAGAGATTCCTGG	0.398																																						uc003tny.1		NaN																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(4795-4797)CTA>GTA		polycystin-1L1							87.0	90.0	89.0					7																	47894544		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47894544G>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4795C>G	7.37:g.47894544G>C	ENSP00000289672:p.Leu1599Val						p.L1599V	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			30	4795	-			1599			Extracellular (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4795C>G	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525364	0.27299	.	.	ENSG00000158683	ENST00000289672	T	0.34667	1.35	5.22	2.41	0.29592	.	0.138105	0.30611	N	0.009253	T	0.36082	0.0954	N	0.20986	0.625	0.09310	N	1	D	0.71674	0.998	P	0.62560	0.904	T	0.07158	-1.0787	10	0.52906	T	0.07	-18.0577	6.2677	0.20936	0.3847:0.0:0.6153:0.0	.	1599	Q8TDX9	PK1L1_HUMAN	V	1599	ENSP00000289672:L1599V	ENSP00000289672:L1599V	L	-	1	2	PKD1L1	47861069	0.123000	0.22298	0.006000	0.13384	0.269000	0.26545	0.728000	0.26013	0.598000	0.29829	0.655000	0.94253	CTA		0.398	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1		NM_138295		50	43	0	0	0	0.01441	0	50	43		
DDC	1644	broad.mit.edu	37	7	50595941	50595941	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:50595941C>G	ENST00000444124.2	-	6	808	c.608G>C	c.(607-609)gGa>gCa	p.G203A	DDC_ENST00000380984.4_Missense_Mutation_p.G203A|DDC_ENST00000357936.5_Missense_Mutation_p.G203A|DDC_ENST00000426377.1_Missense_Mutation_p.G125A|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Intron	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	203					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	TAATTTCACTCCACCAATTAA	0.527																																						uc003tpf.3		NaN																	0				ovary(2)	2						c.(607-609)GGA>GCA		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						109.0	111.0	110.0					7																	50595941		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50595941C>G		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.608G>C	7.37:g.50595941C>G	ENSP00000403644:p.Gly203Ala					DDC_uc010kza.2_Missense_Mutation_p.G118A|DDC_uc003tpg.3_Missense_Mutation_p.G203A	p.G203A	NM_000790	NP_000781	P20711	DDC_HUMAN			6	694	-	Glioma(55;0.08)|all_neural(89;0.245)		203					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.608G>C	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.48|14.48	2.548668|2.548668	0.45383|0.45383	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000430300|ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	.|T;T;T;T	.|0.62232	.|0.04;0.04;0.04;0.04	6.06|6.06	4.21|4.21	0.49690|0.49690	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.100889	.|0.64402	.|N	.|0.000002	T|T	0.65943|0.65943	0.2740|0.2740	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|B;B	.|0.23249	.|0.082;0.082	.|B;B	.|0.38880	.|0.284;0.284	T|T	0.63355|0.63355	-0.6656|-0.6656	5|10	.|0.45353	.|T	.|0.12	-15.53|-15.53	15.9705|15.9705	0.80013|0.80013	0.0:0.7455:0.2545:0.0|0.0:0.7455:0.2545:0.0	.|.	.|203;203	.|Q53Y41;P20711	.|.;DDC_HUMAN	Q|A	84|203;125;203;203	.|ENSP00000350616:G203A;ENSP00000395069:G125A;ENSP00000403644:G203A;ENSP00000370371:G203A	.|ENSP00000350616:G203A	E|G	-|-	1|2	0|0	DDC|DDC	50563435|50563435	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.672000|0.672000	0.39443|0.39443	1.979000|1.979000	0.40608|0.40608	0.840000|0.840000	0.34995|0.34995	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.527	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1				29	102	0	0	0	0.007291	0	29	102		
ZNF713	349075	broad.mit.edu	37	7	55991305	55991305	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:55991305C>G	ENST00000429591.2	+	3	219	c.181C>G	c.(181-183)Cag>Gag	p.Q61E	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Missense_Mutation_p.Q61E	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	61	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)			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)			aatagggtatcagctttgtaa	0.453																																						uc003trc.1		NaN																	0				ovary(2)	2						c.(181-183)CAG>GAG		zinc finger protein 713							72.0	62.0	66.0					7																	55991305		2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:55991305C>G	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.181C>G	7.37:g.55991305C>G	ENSP00000416662:p.Gln61Glu					ZNF713_uc003tra.1_Missense_Mutation_p.Q74E|MRPS17_uc003trb.2_Missense_Mutation_p.Q61E	p.Q61E	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	219	+	Breast(14;0.214)		61			KRAB.			Missense_Mutation	SNP	ENST00000429591.2	37	c.181C>G	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	C	5.783	0.328831	0.10956	.	.	ENSG00000249773;ENSG00000178665	ENST00000426595;ENST00000429591	T;T	0.00784	5.7;5.7	3.48	2.6	0.31112	Krueppel-associated box (3);	0.000000	0.36591	N	0.002501	T	0.00724	0.0024	N	0.24115	0.695	0.21627	N	0.999615	B	0.02656	0.0	B	0.04013	0.001	T	0.48198	-0.9056	10	0.52906	T	0.07	.	9.0001	0.36077	0.0:0.774:0.226:0.0	.	61	Q8N859	ZN713_HUMAN	E	61	ENSP00000390331:Q61E;ENSP00000416662:Q61E	ENSP00000390331:Q61E	Q	+	1	0	RP11-15K19.2;ZNF713	55958799	0.089000	0.21612	0.967000	0.41034	0.022000	0.10575	1.737000	0.38197	1.029000	0.39812	0.655000	0.94253	CAG		0.453	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1		NM_182633		8	10	0	0	0	0.00308	0	8	10		
Unknown	0	broad.mit.edu	37	7	63673568	63673568	+	IGR	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:63673568A>G								GUSBP6 (62469 upstream) : ZNF679 (15283 downstream)																							ATGTGATGTTAGAGAACTACA	0.393																																						uc011kdn.1		NaN																	0					0						c.(136-138)TTA>TTG		zinc finger protein 735							55.0	50.0	51.0					7																	63673568		692	1591	2283	SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63673568A>G																													7.37:g.63673568A>G							p.L46L	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			2	138	+			46			KRAB.			Silent	SNP		37	c.138A>G																																																																																				0	0.393										16	36	0	0	0	0.004007	0	16	36		
AUTS2	26053	broad.mit.edu	37	7	70255708	70255708	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:70255708C>G	ENST00000342771.4	+	19	3827	c.3506C>G	c.(3505-3507)tCc>tGc	p.S1169C	AUTS2_ENST00000406775.2_Missense_Mutation_p.S1145C	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1169	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGGCTCCACTCCGTGCACCCC	0.701																																						uc003tvw.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3505-3507)TCC>TGC		autism susceptibility candidate 2 isoform 1							43.0	51.0	48.0					7																	70255708		2202	4298	6500	SO:0001583	missense	26053							g.chr7:70255708C>G	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3506C>G	7.37:g.70255708C>G	ENSP00000344087:p.Ser1169Cys					AUTS2_uc003tvx.3_Missense_Mutation_p.S1145C|AUTS2_uc011keg.1_Missense_Mutation_p.S621C	p.S1169C	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	4249	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1169			His-rich.		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.3506C>G	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465816	0.63513	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.32272	1.47;1.46	5.15	4.26	0.50523	.	0.741967	0.13734	N	0.366446	T	0.39489	0.1080	N	0.22421	0.69	0.80722	D	1	B;B;B	0.29590	0.25;0.25;0.25	B;B;P	0.53401	0.18;0.298;0.725	T	0.24764	-1.0151	9	.	.	.	0.0151	13.0452	0.58922	0.0:0.9222:0.0:0.0778	.	621;1145;1169	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	C	1145;1169	ENSP00000385263:S1145C;ENSP00000344087:S1169C	.	S	+	2	0	AUTS2	69893644	0.202000	0.23423	0.014000	0.15608	0.938000	0.57974	4.421000	0.59848	2.404000	0.81709	0.655000	0.94253	TCC		0.701	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2				32	110	0	0	0	0.003755	0	32	110		
PCLO	27445	broad.mit.edu	37	7	82546033	82546033	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:82546033T>C	ENST00000333891.9	-	7	11606	c.11269A>G	c.(11269-11271)Atg>Gtg	p.M3757V	PCLO_ENST00000437081.1_Missense_Mutation_p.M477V|PCLO_ENST00000423517.2_Missense_Mutation_p.M3757V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTCGTGCCATTGTGTTGGTT	0.473																																						uc003uhx.2		NaN																	0				ovary(7)	7						c.(11269-11271)ATG>GTG		piccolo isoform 1							123.0	111.0	115.0					7																	82546033		1901	4144	6045	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82546033T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11269A>G	7.37:g.82546033T>C	ENSP00000334319:p.Met3757Val					PCLO_uc003uhv.2_Missense_Mutation_p.M3757V|PCLO_uc010lec.2_Missense_Mutation_p.M722V	p.M3757V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	11558	-			3688						Missense_Mutation	SNP	ENST00000333891.9	37	c.11269A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.635852	0.29068	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.15139	2.45;2.45	6.0	6.0	0.97389	.	.	.	.	.	T	0.35998	0.0951	L	0.43152	1.355	0.58432	D	0.999999	D;D;D	0.71674	0.982;0.998;0.998	D;D;D	0.78314	0.952;0.987;0.991	T	0.04522	-1.0945	9	0.87932	D	0	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	3688;3757;3757	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	V	3757;3757;477	ENSP00000334319:M3757V;ENSP00000388393:M3757V	ENSP00000334319:M3757V	M	-	1	0	PCLO	82383969	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	5.916000	0.69981	2.313000	0.78055	0.456000	0.33151	ATG		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		26	31	0	0	0	0.005443	0	26	31		
GRM3	2913	broad.mit.edu	37	7	86468800	86468800	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:86468800C>G	ENST00000361669.2	+	4	3069	c.1970C>G	c.(1969-1971)tCa>tGa	p.S657*	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Nonsense_Mutation_p.S529*|GRM3_ENST00000546348.1_Nonsense_Mutation_p.S249*|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	657					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|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)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ATCTGTTACTCAGCCCTGCTG	0.522																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NaN																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(1969-1971)TCA>TGA		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						159.0	142.0	148.0					7																	86468800		2203	4300	6503	SO:0001587	stop_gained	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468800C>G		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1970C>G	7.37:g.86468800C>G	ENSP00000355316:p.Ser657*					GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Nonsense_Mutation_p.S529*|GRM3_uc010leh.2_Nonsense_Mutation_p.S249*	p.S657*	NM_000840	NP_000831	Q14832	GRM3_HUMAN			4	3069	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		657			Helical; Name=3; (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Nonsense_Mutation	SNP	ENST00000361669.2	37	c.1970C>G	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	38	7.204142	0.98132	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	.	.	.	5.69	5.69	0.88448	.	0.109428	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7888	0.91965	0.0:1.0:0.0:0.0	.	.	.	.	X	657;249;529	.	ENSP00000355316:S657X	S	+	2	0	GRM3	86306736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.683000	0.91414	0.563000	0.77884	TCA		0.522	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2				38	111	0	0	0	0.005524	0	38	111		
DBF4	10926	broad.mit.edu	37	7	87537236	87537236	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:87537236G>A	ENST00000265728.1	+	12	2287	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	595					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E595K(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ACCAAATGCTGAATTTGATAA	0.308																																						uc003ujf.1		NaN																	1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(1783-1785)GAA>AAA		activator of S phase kinase							39.0	46.0	43.0					7																	87537236		2195	4276	6471	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87537236G>A	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1783G>A	7.37:g.87537236G>A	ENSP00000265728:p.Glu595Lys					DBF4_uc003ujh.1_Missense_Mutation_p.E335K|DBF4_uc003ujg.1_Missense_Mutation_p.E371K|DBF4_uc011khf.1_Missense_Mutation_p.E362K	p.E595K	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN			12	2287	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	595					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.1783G>A	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.549788	0.45383	.	.	ENSG00000006634	ENST00000265728	T	0.36157	1.27	5.13	3.3	0.37823	.	0.610069	0.15274	N	0.271066	T	0.34424	0.0897	M	0.63843	1.955	0.23598	N	0.997324	B;B	0.20887	0.049;0.028	B;B	0.20577	0.03;0.009	T	0.25467	-1.0131	10	0.46703	T	0.11	-14.3438	8.6988	0.34312	0.238:0.0:0.762:0.0	.	371;595	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	K	595	ENSP00000265728:E595K	ENSP00000265728:E595K	E	+	1	0	DBF4	87375172	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	3.451000	0.52964	1.160000	0.42584	0.650000	0.86243	GAA		0.308	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1		NM_006716		39	45	0	0	0	0.007835	0	39	45		
ADAM22	53616	broad.mit.edu	37	7	87778343	87778343	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:87778343C>T	ENST00000265727.7	+	18	1616	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	ADAM22_ENST00000315984.7_Missense_Mutation_p.R513C|ADAM22_ENST00000398201.4_Missense_Mutation_p.R513C|ADAM22_ENST00000398209.3_Missense_Mutation_p.R513C|ADAM22_ENST00000398204.4_Missense_Mutation_p.R513C			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	513	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTGATATTCGTGAAACGTG	0.383																																						uc003ujn.2		NaN																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(1537-1539)CGT>TGT		ADAM metallopeptidase domain 22 isoform 1							74.0	65.0	68.0					7																	87778343		1821	4078	5899	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87778343C>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1537C>T	7.37:g.87778343C>T	ENSP00000265727:p.Arg513Cys					ADAM22_uc003ujk.1_Missense_Mutation_p.R513C|ADAM22_uc003ujl.1_Missense_Mutation_p.R513C|ADAM22_uc003ujm.2_Missense_Mutation_p.R513C|ADAM22_uc003ujo.2_Missense_Mutation_p.R513C|ADAM22_uc003ujp.1_Missense_Mutation_p.R565C	p.R513C	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		18	1616	+	Esophageal squamous(14;0.00202)		513			Disintegrin.|Extracellular (Potential).		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.1537C>T	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061657	0.76187	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73	5.35	3.55	0.40652	Blood coagulation inhibitor, Disintegrin (5);	0.385463	0.28317	N	0.015789	T	0.17023	0.0409	N	0.19112	0.55	0.41148	D	0.986003	D;D;D;D	0.59357	0.985;0.968;0.974;0.966	P;P;P;P	0.57960	0.83;0.537;0.667;0.58	T	0.02917	-1.1094	10	0.87932	D	0	.	10.3171	0.43743	0.0:0.8382:0.0:0.1618	.	565;513;513;513	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	C	513;513;513;513;513;480	ENSP00000381262:R513C;ENSP00000381260:R513C;ENSP00000265727:R513C;ENSP00000315900:R513C;ENSP00000381267:R513C;ENSP00000381261:R480C	ENSP00000265727:R513C	R	+	1	0	ADAM22	87616279	0.972000	0.33761	1.000000	0.80357	0.998000	0.95712	1.569000	0.36428	1.259000	0.44117	0.655000	0.94253	CGT		0.383	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2		NM_021723		6	29	0	0	0	0.001984	0	6	29		
STEAP4	79689	broad.mit.edu	37	7	87913437	87913437	+	Nonsense_Mutation	SNP	G	G	A	rs554141706		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:87913437G>A	ENST00000380079.4	-	2	249	c.148C>T	c.(148-150)Cga>Tga	p.R50*	STEAP4_ENST00000414498.1_Nonsense_Mutation_p.R50*|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Nonsense_Mutation_p.R50*|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	50					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TGGGGGTTTCGACTTCCAAAA	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		17231	0.0		0.0	False		,,,				2504	0.001					uc003ujs.2		NaN																	0					0						c.(148-150)CGA>TGA		tumor necrosis factor, alpha-induced protein 9							96.0	90.0	92.0					7																	87913437		1842	4089	5931	SO:0001587	stop_gained	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87913437G>A	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.148C>T	7.37:g.87913437G>A	ENSP00000369419:p.Arg50*					STEAP4_uc010lek.2_Nonsense_Mutation_p.R50*|STEAP4_uc003ujt.2_Nonsense_Mutation_p.R50*	p.R50*	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			2	253	-	Esophageal squamous(14;0.00802)		50					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Nonsense_Mutation	SNP	ENST00000380079.4	37	c.148C>T	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106013	0.94292	.	.	ENSG00000127954	ENST00000380079;ENST00000301959;ENST00000414498	.	.	.	6.07	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7973	14.3455	0.66658	0.0:0.0:0.7299:0.2701	.	.	.	.	X	50	.	ENSP00000305545:R50X	R	-	1	2	STEAP4	87751373	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	6.173000	0.71937	1.550000	0.49438	0.655000	0.94253	CGA		0.438	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4		NM_024636		55	55	0	0	0	0.01441	0	55	55		
SAMD9	54809	broad.mit.edu	37	7	92734156	92734156	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:92734156T>C	ENST00000379958.2	-	3	1524	c.1255A>G	c.(1255-1257)Aaa>Gaa	p.K419E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	419						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GGGTGGCATTTATTTGTTACA	0.328																																						uc003umf.2		NaN																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1255-1257)AAA>GAA		sterile alpha motif domain containing 9							47.0	49.0	48.0					7																	92734156		2201	4298	6499	SO:0001583	missense	54809					cytoplasm		g.chr7:92734156T>C	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1255A>G	7.37:g.92734156T>C	ENSP00000369292:p.Lys419Glu					SAMD9_uc003umg.2_Missense_Mutation_p.K419E	p.K419E	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	1511	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		419					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.1255A>G	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.551269	0.65311	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.17370	2.28;2.28	4.06	4.06	0.47325	.	0.000000	0.64402	U	0.000007	T	0.38268	0.1034	M	0.66939	2.045	0.37432	D	0.914084	D	0.89917	1.0	D	0.87578	0.998	T	0.45702	-0.9243	10	0.72032	D	0.01	-13.5433	12.2328	0.54497	0.0:0.0:0.0:1.0	.	419	Q5K651	SAMD9_HUMAN	E	419	ENSP00000369292:K419E;ENSP00000414529:K419E	ENSP00000369292:K419E	K	-	1	0	SAMD9	92572092	1.000000	0.71417	0.988000	0.46212	0.902000	0.53008	7.525000	0.81892	1.821000	0.53095	0.491000	0.48974	AAA		0.328	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1		NM_017654		20	16	0	0	0	0.008871	0	20	16		
PTPRZ1	5803	broad.mit.edu	37	7	121652861	121652861	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:121652861C>G	ENST00000393386.2	+	12	4172	c.3761C>G	c.(3760-3762)tCt>tGt	p.S1254C	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1254					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATATGCACTCTGCTTCACTT	0.388																																						uc003vjy.2		NaN																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(3760-3762)TCT>TGT		protein tyrosine phosphatase, receptor-type,							127.0	127.0	127.0					7																	121652861		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652861C>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3761C>G	7.37:g.121652861C>G	ENSP00000377047:p.Ser1254Cys					PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	p.S1254C	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	4156	+			1254			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.3761C>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790770	0.31685	.	.	ENSG00000106278	ENST00000393386	T	0.44881	0.91	5.52	4.65	0.58169	.	0.723914	0.12635	N	0.451868	T	0.34308	0.0893	N	0.22421	0.69	0.80722	D	1	B	0.33448	0.412	B	0.34722	0.188	T	0.16188	-1.0411	10	0.59425	D	0.04	.	14.3663	0.66807	0.0:0.9286:0.0:0.0714	.	1254	P23471	PTPRZ_HUMAN	C	1254	ENSP00000377047:S1254C	ENSP00000377047:S1254C	S	+	2	0	PTPRZ1	121440097	0.993000	0.37304	0.470000	0.27216	0.931000	0.56810	2.805000	0.47939	1.337000	0.45525	0.555000	0.69702	TCT		0.388	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1		NM_002851		46	64	0	0	0	0.013114	0	46	64		
STRA8	346673	broad.mit.edu	37	7	134925346	134925346	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:134925346G>C	ENST00000275764.3	+	2	136	c.136G>C	c.(136-138)Gag>Cag	p.E46Q		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ACAGCTGCAGGAGCTTGAGCA	0.552																																						uc011kpx.1		NaN																	0					0						c.(136-138)GAG>CAG		STRA8							48.0	55.0	53.0					7																	134925346		2203	4300	6503	SO:0001583	missense	346673				DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		g.chr7:134925346G>C	AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.136G>C	7.37:g.134925346G>C	ENSP00000275764:p.Glu46Gln						p.E46Q	NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN			2	136	+			46						Missense_Mutation	SNP	ENST00000275764.3	37	c.136G>C	CCDS5839.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465781	0.26335	.	.	ENSG00000146857	ENST00000275764	.	.	.	4.61	1.76	0.24704	.	0.809192	0.11097	N	0.600067	T	0.26268	0.0641	N	0.20986	0.625	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.22068	-1.0227	9	0.48119	T	0.1	-1.4412	4.7641	0.13123	0.2611:0.158:0.5809:0.0	.	46	Q7Z7C7	STRA8_HUMAN	Q	46	.	ENSP00000275764:E46Q	E	+	1	0	STRA8	134575886	0.892000	0.30473	0.014000	0.15608	0.058000	0.15608	0.518000	0.22847	0.061000	0.16311	0.455000	0.32223	GAG		0.552	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1		NM_182489		26	117	0	0	0	0.003755	0	26	117		
RBM33	155435	broad.mit.edu	37	7	155511101	155511101	+	Missense_Mutation	SNP	C	C	G	rs367916179		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:155511101C>G	ENST00000401878.3	+	9	1422	c.1224C>G	c.(1222-1224)agC>agG	p.S408R	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	408	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CAGTTCCGAGCCAGCCGAGAC	0.458																																						uc010lqk.1		NaN																	0				ovary(1)	1						c.(1222-1224)AGC>AGG		RNA binding motif protein 33		C	ARG/SER	0,3784		0,0,1892	78.0	85.0	83.0		1224	4.9	1.0	7		83	1,8251		0,1,4125	no	missense	RBM33	NM_053043.2	110	0,1,6017	GG,GC,CC		0.0121,0.0,0.0083	possibly-damaging	408/1171	155511101	1,12035	1892	4126	6018	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155511101C>G	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1224C>G	7.37:g.155511101C>G	ENSP00000384160:p.Ser408Arg					RBM33_uc011kvv.1_Missense_Mutation_p.S217R	p.S408R	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	9	1592	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	408			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.1224C>G	CCDS5941.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.936248|3.936248	0.73442|0.73442	0.0|0.0	1.21E-4|1.21E-4	ENSG00000184863|ENSG00000184863	ENST00000392761|ENST00000401878;ENST00000440108	.|T	.|0.53423	.|0.62	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|.	.|.	.|.	.|.	T|T	0.48169|0.48169	0.1485|0.1485	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;P	.|0.53462	.|0.96;0.859	.|P;B	.|0.45829	.|0.494;0.414	T|T	0.46048|0.46048	-0.9219|-0.9219	5|9	.|0.35671	.|T	.|0.21	.|.	18.3688|18.3688	0.90400|0.90400	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|125;408	.|B4DVQ2;Q96EV2	.|.;RBM33_HUMAN	G|R	180|408;309	.|ENSP00000384160:S408R	.|ENSP00000384160:S408R	A|S	+|+	2|3	0|2	RBM33|RBM33	155203862|155203862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.139000|5.139000	0.64801|0.64801	2.417000|2.417000	0.82017|0.82017	0.557000|0.557000	0.71058|0.71058	GCC|AGC		0.458	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3		NM_001008408		15	65	0	0	0	0.004007	0	15	65		
VIPR2	7434	broad.mit.edu	37	7	158824561	158824561	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:158824561C>T	ENST00000262178.2	-	12	1287		c.e12-1		VIPR2_ENST00000402066.1_Splice_Site|VIPR2_ENST00000377633.3_Splice_Site	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2						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)		CCACCAGGCCCTGCAATGAGA	0.597																																					Pancreas(154;1876 1931 2329 17914 20079)	uc003woh.2		NaN																	0				lung(1)|central_nervous_system(1)	2						c.e12-1		vasoactive intestinal peptide receptor 2							80.0	81.0	81.0					7																	158824561		2203	4300	6503	SO:0001630	splice_region_variant	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158824561C>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.1102-1G>A	7.37:g.158824561C>T						VIPR2_uc010lqx.2_Splice_Site	p.G368_splice	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)	12	1288	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)						Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Splice_Site	SNP	ENST00000262178.2	37	c.1102_splice	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470732	0.84533	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.08	0.81000	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VIPR2	158517322	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	6.881000	0.75584	2.454000	0.82982	0.491000	0.48974	.		0.597	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1		NM_003382	Intron	92	61	0	0	0	0.01441	0	92	61		
FBXO25	26260	broad.mit.edu	37	8	385664	385664	+	Nonsense_Mutation	SNP	C	C	G	rs140242296	byFrequency	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:385664C>G	ENST00000276326.5	+	5	457	c.338C>G	c.(337-339)tCa>tGa	p.S113*	FBXO25_ENST00000350302.3_Nonsense_Mutation_p.S113*|FBXO25_ENST00000382824.1_Nonsense_Mutation_p.S46*|FBXO25_ENST00000352684.2_Nonsense_Mutation_p.S46*	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	113					protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TTAGACTTCTCAAGTGCAATT	0.348																																						uc003wox.2		NaN																	0				lung(1)	1						c.(337-339)TCA>TGA		F-box only protein 25 isoform 1							32.0	32.0	32.0					8																	385664		2173	4246	6419	SO:0001587	stop_gained	26260					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity	g.chr8:385664C>G	AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.338C>G	8.37:g.385664C>G	ENSP00000276326:p.Ser113*					FBXO25_uc003woy.2_Nonsense_Mutation_p.S113*|FBXO25_uc003woz.2_Nonsense_Mutation_p.S46*|FBXO25_uc003wpa.2_5'UTR	p.S113*	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)	5	604	+		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)	113					Q6PJ83|Q7Z4V4|Q9UKB8	Nonsense_Mutation	SNP	ENST00000276326.5	37	c.338C>G	CCDS5953.1	.	.	.	.	.	.	.	.	.	.	.	34	5.360879	0.95877	.	.	ENSG00000147364	ENST00000518240;ENST00000350302;ENST00000352684;ENST00000276326;ENST00000447233;ENST00000382824	.	.	.	4.49	3.6	0.41247	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-26.1189	10.9702	0.47434	0.0:0.9043:0.0:0.0957	.	.	.	.	X	113;113;46;113;113;46	.	ENSP00000276326:S113X	S	+	2	0	FBXO25	375664	1.000000	0.71417	0.940000	0.37924	0.993000	0.82548	1.767000	0.38501	1.028000	0.39785	0.549000	0.68633	TCA		0.348	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2		NM_012173		49	40	0	0	0	0.01441	0	49	40		
CSMD1	64478	broad.mit.edu	37	8	3141781	3141781	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:3141781C>A	ENST00000520002.1	-	27	4596	c.4041G>T	c.(4039-4041)aaG>aaT	p.K1347N	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.K1346N|CSMD1_ENST00000602723.1_Missense_Mutation_p.K1347N|CSMD1_ENST00000400186.3_Missense_Mutation_p.K1347N|CSMD1_ENST00000542608.1_Missense_Mutation_p.K1346N|CSMD1_ENST00000602557.1_Missense_Mutation_p.K1347N|CSMD1_ENST00000539096.1_Missense_Mutation_p.K1346N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1347	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACTCCACTCCTTCAGCAGGA	0.557											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kwk.1		NaN																	0				breast(20)|large_intestine(5)	25						c.(4039-4041)AAG>AAT		CUB and Sushi multiple domains 1 precursor							97.0	107.0	103.0					8																	3141781		2127	4257	6384	SO:0001583	missense	64478					integral to membrane		g.chr8:3141781C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4041G>T	8.37:g.3141781C>A	ENSP00000430733:p.Lys1347Asn		OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	CSMD1_uc011kwj.1_Missense_Mutation_p.K739N|CSMD1_uc003wqe.2_Missense_Mutation_p.K503N	p.K1347N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	26	4431	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1347			Extracellular (Potential).|CUB 8.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.4041G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.384346|4.384346	0.82792|0.82792	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.17213	.|2.29;2.29;2.29;2.29;2.29	5.12|5.12	4.12|4.12	0.48240|0.48240	.|CUB (5);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.28001	.|0.0690	L|L	0.51422|0.51422	1.61|1.61	0.52099|0.52099	D|D	0.999946|0.999946	.|D;D;P	.|0.76494	.|0.999;0.984;0.876	.|D;D;P	.|0.85130	.|0.997;0.925;0.811	.|T	.|0.05699	.|-1.0869	.|10	.|0.42905	.|T	.|0.14	.|.	3.3083|3.3083	0.07007|0.07007	0.0:0.6071:0.0:0.3929|0.0:0.6071:0.0:0.3929	.|.	.|1347;1347;1347	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	X|N	827|1347;1347;1209;1346;1346;1346	.|ENSP00000383047:K1347N;ENSP00000430733:K1347N;ENSP00000441462:K1346N;ENSP00000446243:K1346N;ENSP00000441675:K1346N	.|ENSP00000320445:K1209N	G|K	-|-	1|3	0|2	CSMD1|CSMD1	3129188|3129188	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	1.664000|1.664000	0.37439|0.37439	2.375000|2.375000	0.81037|0.81037	0.563000|0.563000	0.77884|0.77884	GGA|AAG		0.557	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225		15	19	1	0	6.31663e-08	0.003163	6.50241e-08	15	19		
XPO7	23039	broad.mit.edu	37	8	21840321	21840321	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:21840321G>A	ENST00000252512.9	+	11	1375	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	XPO7_ENST00000433566.4_Silent_p.L426L|XPO7_ENST00000434536.1_Silent_p.L434L	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	425				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ACATCATACTGAGGTAAGGAA	0.507																																						uc003xaa.3		NaN																	0				ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(1273-1275)CTG>CTA		exportin 7 isoform b							139.0	137.0	138.0					8																	21840321		2018	4202	6220	SO:0001819	synonymous_variant	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21840321G>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1275G>A	8.37:g.21840321G>A						XPO7_uc010lti.2_Silent_p.L434L|XPO7_uc010ltk.2_Silent_p.L426L	p.L425L	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	11	1377	+			425	Missing (in Ref. 3; BAA34465).				O94846|Q6PJK9|Q8NEK7	Silent	SNP	ENST00000252512.9	37	c.1275G>A	CCDS47818.1																																																																																				0.507	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1		NM_015024		40	45	0	0	0	0.00623	0	40	45		
HR	55806	broad.mit.edu	37	8	21978464	21978464	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:21978464C>A	ENST00000381418.4	-	11	3855	c.2375G>T	c.(2374-2376)cGc>cTc	p.R792L	HR_ENST00000312841.8_Missense_Mutation_p.R792L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	792					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTTGGTGATGCGGTCATCCTG	0.672																																						uc003xas.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(2374-2376)CGC>CTC		hairless protein isoform a							14.0	16.0	15.0					8																	21978464		2169	4251	6420	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21978464C>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.2375G>T	8.37:g.21978464C>A	ENSP00000370826:p.Arg792Leu					HR_uc003xat.2_Missense_Mutation_p.R792L	p.R792L	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	11	3040	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	792					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.2375G>T	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291994	0.59976	.	.	ENSG00000168453	ENST00000381418;ENST00000312841;ENST00000517699	T;T;T	0.72942	-0.7;-0.69;0.9	5.03	5.03	0.67393	.	0.000000	0.56097	D	0.000038	T	0.77831	0.4189	L	0.41236	1.265	0.35835	D	0.825621	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.82348	-0.0502	10	0.52906	T	0.07	-22.728	14.2162	0.65795	0.0:1.0:0.0:0.0	.	792;792	O43593-2;O43593	.;HAIR_HUMAN	L	792;792;15	ENSP00000370826:R792L;ENSP00000326765:R792L;ENSP00000430413:R15L	ENSP00000326765:R792L	R	-	2	0	HR	22034409	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.510000	0.53393	2.487000	0.83934	0.561000	0.74099	CGC		0.672	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1				23	25	1	0	1.9806e-07	0.014323	2.03425e-07	23	25		
BMP1	649	broad.mit.edu	37	8	22035399	22035399	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:22035399G>A	ENST00000306385.5	+	6	1435	c.765G>A	c.(763-765)caG>caA	p.Q255Q	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Silent_p.Q255Q|BMP1_ENST00000397816.3_Silent_p.Q255Q|BMP1_ENST00000306349.8_Silent_p.Q255Q	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	255	Metalloprotease.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGGAGCCTCAGGAGGTGGAGT	0.592																																						uc003xbg.2		NaN																	0				ovary(2)|breast(1)	3						c.(763-765)CAG>CAA		bone morphogenetic protein 1 isoform 3							211.0	194.0	200.0					8																	22035399		2203	4300	6503	SO:0001819	synonymous_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22035399G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.765G>A	8.37:g.22035399G>A						BMP1_uc011kzb.1_RNA|BMP1_uc003xba.2_Silent_p.Q255Q|BMP1_uc003xbb.2_Silent_p.Q255Q|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.Q4Q|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.Q4Q|BMP1_uc011kzc.1_Silent_p.Q4Q|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	p.Q255Q	NM_006129	NP_006120	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	6	1009	+			255			Metalloprotease.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.765G>A	CCDS6026.1																																																																																				0.592	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2		NM_006132		102	369	0	0	0	0.01441	0	102	369		
ADRA1A	148	broad.mit.edu	37	8	26722121	26722121	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:26722121G>C	ENST00000519229.1	-	1	372	c.366C>G	c.(364-366)atC>atG	p.I122M	ADRA1A_ENST00000380587.1_Missense_Mutation_p.I122M|ADRA1A_ENST00000380572.3_Missense_Mutation_p.I122M|ADRA1A_ENST00000358857.5_Missense_Mutation_p.I122M|ADRA1A_ENST00000380582.3_Missense_Mutation_p.I122M|ADRA1A_ENST00000354550.4_Missense_Mutation_p.I122M|ADRA1A_ENST00000380573.3_Missense_Mutation_p.I122M|ADRA1A_ENST00000276393.4_Missense_Mutation_p.I122M|ADRA1A_ENST00000380581.2_Missense_Mutation_p.I122M|ADRA1A_ENST00000380586.1_Missense_Mutation_p.I122M			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	192					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TGTAGCGGTCGATGGAGATGA	0.627																																						uc003xfh.1		NaN																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(364-366)ATC>ATG		alpha-1A-adrenergic receptor isoform 1	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						87.0	82.0	84.0					8																	26722121		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26722121G>C	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.366C>G	8.37:g.26722121G>C	ENSP00000430793:p.Ile122Met					ADRA1A_uc003xfc.1_Missense_Mutation_p.I122M|ADRA1A_uc010lul.1_Missense_Mutation_p.I122M|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.I122M|ADRA1A_uc010lum.1_Missense_Mutation_p.I122M|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.I122M	p.I122M	NM_000680	NP_000671	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	1	802	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	122			Helical; Name=3; (By similarity).		Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.366C>G		.	.	.	.	.	.	.	.	.	.	G	14.44	2.536790	0.45176	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	4.83	-1.73	0.08081	GPCR, rhodopsin-like superfamily (1);	0.153065	0.47093	D	0.000258	T	0.51669	0.1688	M	0.73217	2.22	0.42729	D	0.993709	D;D;D;D;D;D	0.76494	0.999;0.998;0.997;0.999;0.997;0.999	D;D;D;D;D;D	0.80764	0.976;0.956;0.988;0.986;0.93;0.994	T	0.52578	-0.8557	10	0.87932	D	0	.	2.7384	0.05246	0.4438:0.1134:0.3274:0.1154	.	122;122;122;122;122;122	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	M	122	ENSP00000369960:I122M;ENSP00000369961:I122M;ENSP00000369956:I122M;ENSP00000369955:I122M;ENSP00000430793:I122M;ENSP00000346557:I122M;ENSP00000276393:I122M;ENSP00000369947:I122M;ENSP00000369946:I122M;ENSP00000351725:I122M	ENSP00000276393:I122M	I	-	3	3	ADRA1A	26778038	0.011000	0.17503	0.998000	0.56505	0.993000	0.82548	-1.285000	0.02791	-0.047000	0.13423	-0.244000	0.11960	ATC		0.627	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1		NM_033303		102	100	0	0	0	0.01441	0	102	100		
NRG1	3084	broad.mit.edu	37	8	31498210	31498210	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:31498210A>G	ENST00000520407.1	+	1	940	c.710A>G	c.(709-711)aAg>aGg	p.K237R	NRG1_ENST00000519301.1_Intron	NM_013962.2	NP_039256.2	Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CGGAACCTCAAGAAGGAGGTC	0.701																																						uc003xip.2		NaN																	0					0						c.(709-711)AAG>AGG		neuregulin 1 isoform GGF2							7.0	9.0	8.0					8																	31498210		1776	3904	5680	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:31498210A>G	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000520407.1:c.710A>G	8.37:g.31498210A>G	ENSP00000434640:p.Lys237Arg						p.K237R	NM_013962	NP_039256	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	1	943	+		Breast(100;0.203)	22			Extracellular (Potential).		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000520407.1	37	c.710A>G	CCDS47836.1	.	.	.	.	.	.	.	.	.	.	A	9.270	1.045485	0.19748	.	.	ENSG00000157168	ENST00000520407;ENST00000523534	T;T	0.74842	-0.88;-0.73	4.66	1.81	0.25067	.	.	.	.	.	T	0.56426	0.1984	.	.	.	0.80722	D	1	B	0.17667	0.023	B	0.17722	0.019	T	0.41342	-0.9514	8	0.23302	T	0.38	.	5.3058	0.15803	0.7322:0.0:0.1048:0.163	.	237	Q02297-9	.	R	237;90	ENSP00000434640:K237R;ENSP00000429067:K90R	ENSP00000434640:K237R	K	+	2	0	NRG1	31617752	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	2.196000	0.42686	0.621000	0.30232	-0.336000	0.08194	AAG		0.701	NRG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376412.2				7	37	0	0	0	0.006214	0	7	37		
KCNU1	157855	broad.mit.edu	37	8	36644882	36644882	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:36644882G>A	ENST00000399881.3	+	2	291	c.254G>A	c.(253-255)gGa>gAa	p.G85E		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	85					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CACTTCCAGGGACAATTTCGT	0.423																																						uc010lvw.2		NaN																	0				ovary(1)	1						c.(253-255)GGA>GAA		potassium channel, subfamily U, member 1							92.0	90.0	91.0					8																	36644882		1920	4115	6035	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36644882G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.254G>A	8.37:g.36644882G>A	ENSP00000382770:p.Gly85Glu					KCNU1_uc003xjw.2_RNA	p.G85E	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	2	341	+			85			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.254G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230628	0.39399	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.31510	1.5;1.49	5.48	4.58	0.56647	.	.	.	.	.	T	0.42314	0.1197	L	0.39898	1.24	0.30556	N	0.764994	D	0.69078	0.997	P	0.60173	0.87	T	0.44421	-0.9329	9	0.72032	D	0.01	.	12.3961	0.55386	0.0:0.1694:0.8306:0.0	.	85	A8MYU2	KCNU1_HUMAN	E	85	ENSP00000429951:G85E;ENSP00000382770:G85E	ENSP00000382770:G85E	G	+	2	0	KCNU1	36764040	0.800000	0.28916	0.016000	0.15963	0.001000	0.01503	4.064000	0.57506	1.418000	0.47098	0.655000	0.94253	GGA		0.423	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1		NM_001031836		13	12	0	0	0	0.013537	0	13	12		
ANK1	286	broad.mit.edu	37	8	41519393	41519393	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:41519393C>G	ENST00000347528.4	-	41	5628	c.5545G>C	c.(5545-5547)Gtg>Ctg	p.V1849L	ANK1_ENST00000396945.1_Intron|ANK1_ENST00000289734.7_Splice_Site|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000522231.1_Splice_Site|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000265709.8_Splice_Site|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000314214.8_Splice_Site|ANK1_ENST00000522543.1_Missense_Mutation_p.V124L|ANK1_ENST00000352337.4_Intron|MIR486_ENST00000408108.1_RNA|ANK1_ENST00000396942.1_Missense_Mutation_p.V1849L|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	1849	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)			TCTACAGTCACCTCCTCGTGC	0.582																																						uc003xok.2		NaN																	0				ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(5545-5547)GTG>CTG		ankyrin 1 isoform 1							51.0	57.0	55.0					8																	41519393		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.chr8:41519393C>G	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.5545G>C	8.37:g.41519393C>G	ENSP00000339620:p.Val1849Leu					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Splice_Site_p.E1002_splice|ANK1_uc003xoi.2_Splice_Site_p.E1848_splice|ANK1_uc003xoj.2_Splice_Site_p.E1848_splice|ANK1_uc003xol.2_Missense_Mutation_p.V1687L|ANK1_uc003xom.2_Splice_Site_p.E1889_splice|ANK1_uc011lcl.1_Splice_Site_p.E123_splice|ANK1_uc003xod.2_Splice_Site_p.E123_splice|ANK1_uc003xoc.2_Missense_Mutation_p.V124L|ANK1_uc003xof.2_Intron|MIR486_hsa-mir-486|MI0002470_5'Flank	p.V1849L	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)		41	5629	-	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)	1849			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5545G>C	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.168|9.168	1.020345|1.020345	0.19433|0.19433	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000289734;ENST00000522231;ENST00000314214;ENST00000520299;ENST00000265709|ENST00000347528;ENST00000396942;ENST00000522543	.|T;T;D	.|0.88354	.|-0.48;-0.46;-2.37	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|3.255500	.|0.01448	.|N	.|0.015372	.|D	.|0.85613	.|0.5737	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.13145	.|0.004;0.0;0.007	.|B;B;B	.|0.12837	.|0.002;0.0;0.008	.|T	.|0.58177	.|-0.7682	.|10	.|0.16420	.|T	.|0.52	.|.	10.3974|10.3974	0.44209|0.44209	0.1358:0.6164:0.2478:0.0|0.1358:0.6164:0.2478:0.0	.|.	.|1687;1849;124	.|P16157-4;P16157;E5RFL7	.|.;ANK1_HUMAN;.	.|L	-1|1849;1849;124	.|ENSP00000339620:V1849L;ENSP00000380147:V1849L;ENSP00000430368:V124L	.|ENSP00000339620:V1849L	.|V	-|-	.|1	.|0	ANK1|ANK1	41638550|41638550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.131000|0.131000	0.20780|0.20780	1.758000|1.758000	0.38410|0.38410	2.816000|2.816000	0.96949|0.96949	0.561000|0.561000	0.74099|0.74099	.|GTG		0.582	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1		NM_020475		46	385	0	0	0	0.011902	0	46	385		
SPIDR	23514	broad.mit.edu	37	8	48626144	48626144	+	Missense_Mutation	SNP	C	C	A	rs371194976		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:48626144C>A	ENST00000297423.4	+	16	2666	c.2282C>A	c.(2281-2283)cCg>cAg	p.P761Q	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.P701Q|SPIDR_ENST00000517693.1_Missense_Mutation_p.P236Q|SPIDR_ENST00000541342.1_Missense_Mutation_p.P691Q	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	761					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											CTGCCTGGCCCGGTGATGCTC	0.527																																						uc003xqd.2		NaN																	0					0						c.(2281-2283)CCG>CAG		hypothetical protein LOC23514							100.0	103.0	102.0					8																	48626144		2078	4214	6292	SO:0001583	missense	23514							g.chr8:48626144C>A	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.2282C>A	8.37:g.48626144C>A	ENSP00000297423:p.Pro761Gln					KIAA0146_uc011ldc.1_Missense_Mutation_p.P691Q|KIAA0146_uc011ldd.1_Missense_Mutation_p.P701Q|KIAA0146_uc003xqe.2_Missense_Mutation_p.P236Q|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_Missense_Mutation_p.P450Q|KIAA0146_uc011ldf.1_Missense_Mutation_p.P266Q|KIAA0146_uc011ldg.1_Missense_Mutation_p.P251Q|KIAA0146_uc003xqg.1_RNA	p.P761Q	NM_001080394	NP_001073863	Q14159	K0146_HUMAN			16	2291	+		Lung NSC(58;0.175)	761					B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.2282C>A	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435833	0.43224	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362;ENST00000522321;ENST00000521056	.	.	.	5.08	5.08	0.68730	.	0.059362	0.64402	D	0.000002	T	0.77212	0.4097	L	0.61218	1.895	0.39353	D	0.965788	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;0.998;0.989;1.0;0.989	T	0.80779	-0.1230	9	0.87932	D	0	.	16.6371	0.85061	0.0:1.0:0.0:0.0	.	251;266;701;691;236;761	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B3KP42;Q14159	.;.;.;.;.;K0146_HUMAN	Q	761;701;691;266;236;236;122;122	.	ENSP00000297423:P761Q	P	+	2	0	KIAA0146	48788697	0.731000	0.28111	0.031000	0.17742	0.002000	0.02628	3.511000	0.53400	2.368000	0.80403	0.591000	0.81541	CCG		0.527	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1		NM_001080394		24	100	1	0	4.7796e-09	0.004656	4.9538e-09	24	100		
PRKDC	5591	broad.mit.edu	37	8	48719847	48719847	+	Missense_Mutation	SNP	G	G	C	rs150449253		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:48719847G>C	ENST00000314191.2	-	70	9651	c.9595C>G	c.(9595-9597)Ctt>Gtt	p.L3199V	PRKDC_ENST00000338368.3_Missense_Mutation_p.L3199V|Y_RNA_ENST00000384719.1_RNA|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3200	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				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)	TCTTCTGGAAGAGGGGTAAGC	0.438								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.(9598-9600)CTT>GTT	NHEJ	protein kinase, DNA-activated, catalytic							159.0	152.0	154.0					8																	48719847		1875	4119	5994	SO:0001583	missense	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.chr8:48719847G>C		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.9595C>G	8.37:g.48719847G>C	ENSP00000313420:p.Leu3199Val					PRKDC_uc003xqj.2_Missense_Mutation_p.L3200V|PRKDC_uc011ldh.1_Intron	p.L3200V	NM_006904	NP_008835	P78527	PRKDC_HUMAN			70	9655	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3200			KIP-binding.|FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.9598C>G		.	.	.	.	.	.	.	.	.	.	G	6.961	0.547184	0.13312	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02787	4.22;4.16	5.88	1.86	0.25419	PIK-related kinase (1);PIK-related kinase, FAT (1);	1.226200	0.05580	N	0.572757	T	0.02929	0.0087	L	0.29908	0.895	0.09310	N	1	B;B	0.22080	0.064;0.037	B;B	0.27715	0.033;0.082	T	0.50499	-0.8821	10	0.15499	T	0.54	.	6.2315	0.20738	0.0624:0.3052:0.4361:0.1963	.	3199;3200	E7EUY0;P78527	.;PRKDC_HUMAN	V	3199	ENSP00000313420:L3199V;ENSP00000345182:L3199V	ENSP00000313420:L3199V	L	-	1	0	PRKDC	48882400	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.116000	0.10724	0.353000	0.24079	0.655000	0.94253	CTT		0.438	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640		27	130	0	0	0	0.004656	0	27	130		
PRKDC	5591	broad.mit.edu	37	8	48815271	48815271	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:48815271G>C	ENST00000314191.2	-	27	3183	c.3127C>G	c.(3127-3129)Caa>Gaa	p.Q1043E	PRKDC_ENST00000338368.3_Missense_Mutation_p.Q1043E|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1043					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)	GGTGTTATTTGCTTAATGGAC	0.423								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.(3127-3129)CAA>GAA	NHEJ	protein kinase, DNA-activated, catalytic							160.0	148.0	152.0					8																	48815271		1915	4122	6037	SO:0001583	missense	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.chr8:48815271G>C		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.3127C>G	8.37:g.48815271G>C	ENSP00000313420:p.Gln1043Glu					PRKDC_uc003xqj.2_Missense_Mutation_p.Q1043E|PRKDC_uc011ldh.1_Missense_Mutation_p.Q1043E	p.Q1043E	NM_006904	NP_008835	P78527	PRKDC_HUMAN			27	3184	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1043					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.3127C>G		.	.	.	.	.	.	.	.	.	.	G	23.4	4.409211	0.83340	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.64260	-0.09;-0.09	4.86	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80808	0.4694	.	.	.	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.83275	0.986;0.996;0.941	D	0.83630	0.0144	9	0.66056	D	0.02	.	18.3316	0.90271	0.0:0.0:1.0:0.0	.	1043;1043;1043	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	E	1043	ENSP00000313420:Q1043E;ENSP00000345182:Q1043E	ENSP00000313420:Q1043E	Q	-	1	0	PRKDC	48977824	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.416000	0.97383	2.393000	0.81446	0.563000	0.77884	CAA		0.423	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640		7	54	0	0	0	0.001984	0	7	54		
YTHDF3	253943	broad.mit.edu	37	8	64099876	64099876	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:64099876C>G	ENST00000539294.1	+	4	1620	c.1304C>G	c.(1303-1305)tCt>tGt	p.S435C	YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Missense_Mutation_p.S246C|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	436	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTAAATACTCTATCTGGTGT	0.398																																						uc003xuy.2		NaN																	0					0						c.(1306-1308)TCT>TGT		YTH domain family, member 3							98.0	96.0	97.0					8																	64099876		1942	4156	6098	SO:0001583	missense	253943							g.chr8:64099876C>G	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.1304C>G	8.37:g.64099876C>G	ENSP00000473496:p.Ser435Cys					YTHDF3_uc010lys.2_Missense_Mutation_p.S380C|YTHDF3_uc003xuz.2_Missense_Mutation_p.S380C|YTHDF3_uc003xva.2_Missense_Mutation_p.S380C|YTHDF3_uc011len.1_Missense_Mutation_p.S380C	p.S436C	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		5	1623	+	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	436			YTH.		B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37	c.1307C>G																																																																																					0.398	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_152758		25	88	0	0	0	0.004656	0	25	88		
PREX2	80243	broad.mit.edu	37	8	68931794	68931794	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:68931794C>G	ENST00000288368.4	+	3	501	c.224C>G	c.(223-225)tCa>tGa	p.S75*	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	75	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGTTGTTCTCAAACATTGAA	0.363																																						uc003xxv.1		NaN																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(223-225)TCA>TGA		DEP domain containing 2 isoform a							69.0	70.0	70.0					8																	68931794		2203	4300	6503	SO:0001587	stop_gained	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68931794C>G	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.224C>G	8.37:g.68931794C>G	ENSP00000288368:p.Ser75*					PREX2_uc003xxu.1_Nonsense_Mutation_p.S75*|PREX2_uc011lez.1_Intron	p.S75*	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			3	251	+			75			DH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Nonsense_Mutation	SNP	ENST00000288368.4	37	c.224C>G	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	39	7.821439	0.98507	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	.	.	.	5.81	5.81	0.92471	.	0.142736	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.8358	0.92162	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000288368:S75X	S	+	2	0	PREX2	69094348	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.258000	0.78371	2.737000	0.93849	0.650000	0.86243	TCA		0.363	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1		NM_025170		23	12	0	0	0	0.016522	0	23	12		
TRPA1	8989	broad.mit.edu	37	8	72973899	72973899	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:72973899A>G	ENST00000262209.4	-	7	1112	c.905T>C	c.(904-906)gTt>gCt	p.V302A		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	302					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)	GGTTGTGTTAACAATATCCAC	0.428																																						uc003xza.2		NaN																	0				ovary(4)|lung(1)|kidney(1)	6						c.(904-906)GTT>GCT		ankyrin-like protein 1	Menthol(DB00825)						245.0	197.0	213.0					8																	72973899		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72973899A>G	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.905T>C	8.37:g.72973899A>G	ENSP00000262209:p.Val302Ala						p.V302A	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		7	1080	-			302			Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.905T>C	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	13.15	2.150314	0.37923	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.56611	0.45;2.25	4.94	4.94	0.65067	Ankyrin repeat-containing domain (3);	0.237942	0.42964	D	0.000621	T	0.49474	0.1559	L	0.54323	1.7	0.49213	D	0.999764	P	0.45283	0.855	B	0.40134	0.32	T	0.55749	-0.8092	10	0.52906	T	0.07	-12.9035	14.7654	0.69634	1.0:0.0:0.0:0.0	.	302	O75762	TRPA1_HUMAN	A	154;302	ENSP00000428151:V154A;ENSP00000262209:V302A	ENSP00000262209:V302A	V	-	2	0	TRPA1	73136453	1.000000	0.71417	0.292000	0.24919	0.061000	0.15899	8.197000	0.89727	2.080000	0.62538	0.533000	0.62120	GTT		0.428	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2		NM_007332		31	107	0	0	0	0.015359	0	31	107		
ZFHX4	79776	broad.mit.edu	37	8	77616680	77616680	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:77616680A>C	ENST00000521891.2	+	2	805	c.357A>C	c.(355-357)ttA>ttC	p.L119F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L119F|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L119F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L119F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	119					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)			TCAGCGAGTTAGAGGACAGTG	0.483										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(355-357)TTA>TTC		zinc finger homeodomain 4							142.0	137.0	138.0					8																	77616680		1983	4174	6157	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616680A>C		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.357A>C	8.37:g.77616680A>C	ENSP00000430497:p.Leu119Phe	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.L119F|ZFHX4_uc003yau.1_Missense_Mutation_p.L119F|ZFHX4_uc003yaw.1_Missense_Mutation_p.L119F	p.L119F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	744	+			119					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.357A>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	13.41	2.229645	0.39399	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.42	0.367	0.16140	.	0.000000	0.35262	U	0.003339	T	0.25158	0.0611	N	0.22421	0.69	0.49051	D	0.999748	B;B;B;D	0.61080	0.261;0.379;0.379;0.989	B;B;B;P	0.55161	0.035;0.037;0.077;0.77	T	0.06481	-1.0824	10	0.23891	T	0.37	.	6.0928	0.20003	0.6745:0.1256:0.1999:0.0	.	119;119;119;119	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	F	119	ENSP00000430497:L119F;ENSP00000399605:L119F;ENSP00000050961:L119F;ENSP00000428525:L119F;ENSP00000427775:L119F;ENSP00000427739:L119F;ENSP00000430848:L119F	ENSP00000050961:L119F	L	+	3	2	ZFHX4	77779235	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	1.262000	0.32992	-0.065000	0.13021	0.528000	0.53228	TTA		0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		25	177	0	0	0	0.003954	0	25	177		
PKHD1L1	93035	broad.mit.edu	37	8	110477234	110477234	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:110477234G>T	ENST00000378402.5	+	49	8277	c.8173G>T	c.(8173-8175)Gca>Tca	p.A2725S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2725					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)			ATTTTGCACAGCAAAAGGCCT	0.468										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(8173-8175)GCA>TCA		fibrocystin L precursor							171.0	173.0	172.0					8																	110477234		1913	4128	6041	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110477234G>T	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.8173G>T	8.37:g.110477234G>T	ENSP00000367655:p.Ala2725Ser	HNSCC(38;0.096)					p.A2725S	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	8277	+			2725			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8173G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	0.698	-0.791888	0.02884	.	.	ENSG00000205038	ENST00000378402	D	0.83755	-1.76	5.96	2.05	0.26809	.	1.332260	0.04699	N	0.415449	T	0.55210	0.1906	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57183	-0.7855	10	0.02654	T	1	.	3.7731	0.08649	0.354:0.0:0.1915:0.4545	.	2725	Q86WI1	PKHL1_HUMAN	S	2725	ENSP00000367655:A2725S	ENSP00000367655:A2725S	A	+	1	0	PKHD1L1	110546410	0.000000	0.05858	0.001000	0.08648	0.919000	0.55068	0.687000	0.25407	0.501000	0.28013	-0.238000	0.12139	GCA		0.468	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		36	149	1	0	1.57351e-24	0.003755	1.68063e-24	36	149		
LRRC6	23639	broad.mit.edu	37	8	133623595	133623595	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:133623595G>C	ENST00000519595.1	-	9	1087	c.989C>G	c.(988-990)tCt>tGt	p.S330C	LRRC6_ENST00000250173.1_Missense_Mutation_p.S330C|LRRC6_ENST00000518642.1_Missense_Mutation_p.S330C			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	330	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATCGATTAAAGAGGTATCCAT	0.313																																						uc003ytk.2		NaN																	0				ovary(1)|kidney(1)	2						c.(988-990)TCT>TGT		leucine rich repeat containing 6							67.0	67.0	67.0					8																	133623595		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133623595G>C	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.989C>G	8.37:g.133623595G>C	ENSP00000429791:p.Ser330Cys					LRRC6_uc003ytl.2_RNA	p.S330C	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		9	1063	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		330			CS.		Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.989C>G		.	.	.	.	.	.	.	.	.	.	G	19.09	3.759784	0.69763	.	.	ENSG00000129295	ENST00000519595;ENST00000522789;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T;T	0.77489	-1.1;-1.1;0.88;-1.1	5.89	5.89	0.94794	CS-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90903	0.7141	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92170	0.5743	10	0.87932	D	0	-17.7018	18.8205	0.92096	0.0:0.0:1.0:0.0	.	330	Q86X45	LRRC6_HUMAN	C	330;70;330;330;330	ENSP00000429791:S330C;ENSP00000428015:S70C;ENSP00000428610:S330C;ENSP00000250173:S330C	ENSP00000250173:S330C	S	-	2	0	LRRC6	133692777	1.000000	0.71417	0.998000	0.56505	0.646000	0.38490	7.123000	0.77176	2.793000	0.96121	0.561000	0.74099	TCT		0.313	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1		NM_012472		24	26	0	0	0	0.003954	0	24	26		
PHF20L1	51105	broad.mit.edu	37	8	133844494	133844494	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:133844494G>T	ENST00000395386.2	+	15	2058	c.1759G>T	c.(1759-1761)Gaa>Taa	p.E587*	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.E562*	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	587							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTCAGACTATGAAGACAGTTC	0.368																																						uc003ytt.2		NaN																	0				ovary(2)	2						c.(1759-1761)GAA>TAA		PHD finger protein 20-like 1 isoform 1							171.0	162.0	165.0					8																	133844494		1836	4087	5923	SO:0001587	stop_gained	51105						nucleic acid binding|zinc ion binding	g.chr8:133844494G>T	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1759G>T	8.37:g.133844494G>T	ENSP00000378784:p.Glu587*					PHF20L1_uc011lja.1_Nonsense_Mutation_p.E561*	p.E587*	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		15	2084	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		587					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Nonsense_Mutation	SNP	ENST00000395386.2	37	c.1759G>T	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	38	7.098320	0.98063	.	.	ENSG00000129292	ENST00000395386;ENST00000395390	.	.	.	5.56	5.56	0.83823	.	0.489243	0.22632	N	0.057576	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-9.1792	18.8775	0.92345	0.0:0.0:1.0:0.0	.	.	.	.	X	587;562	.	ENSP00000378784:E587X	E	+	1	0	PHF20L1	133913676	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.451000	0.80668	2.781000	0.95711	0.650000	0.86243	GAA		0.368	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3		NM_016018		70	65	1	0	1.45978e-39	0.01441	1.58143e-39	70	65		
PTPRD	5789	broad.mit.edu	37	9	8521491	8521491	+	Silent	SNP	T	T	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:8521491T>A	ENST00000381196.4	-	17	1290	c.747A>T	c.(745-747)ccA>ccT	p.P249P	PTPRD_ENST00000358503.5_Silent_p.P236P|PTPRD_ENST00000355233.5_Silent_p.P249P|PTPRD_ENST00000486161.1_Silent_p.P249P|PTPRD_ENST00000397617.3_Silent_p.P239P|PTPRD_ENST00000360074.4_Silent_p.P236P|PTPRD_ENST00000540109.1_Silent_p.P249P|PTPRD_ENST00000356435.5_Silent_p.P249P|PTPRD_ENST00000397606.3_Silent_p.P239P|PTPRD_ENST00000397611.3_Silent_p.P246P|PTPRD_ENST00000537002.1_Silent_p.P246P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	249	Ig-like C2-type 3.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGCTTCCGCCTGGCATGATTT	0.468										TSP Lung(15;0.13)																												uc003zkk.2		NaN																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(745-747)CCA>CCT		protein tyrosine phosphatase, receptor type, D							123.0	105.0	111.0					9																	8521491		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8521491T>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.747A>T	9.37:g.8521491T>A		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Silent_p.P249P|PTPRD_uc003zkq.2_Silent_p.P249P|PTPRD_uc003zkr.2_Silent_p.P243P|PTPRD_uc003zks.2_Silent_p.P239P|PTPRD_uc003zkl.2_Silent_p.P249P|PTPRD_uc003zkm.2_Silent_p.P236P|PTPRD_uc003zkn.2_Silent_p.P249P|PTPRD_uc003zko.2_Silent_p.P246P	p.P249P	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	19	1458	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	249			Extracellular (Potential).|Ig-like C2-type 3.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.747A>T	CCDS43786.1																																																																																				0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3				22	61	0	0	0	0.012319	0	22	61		
RPS6	6194	broad.mit.edu	37	9	19376356	19376356	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:19376356C>A	ENST00000380394.4	-	6	743	c.685G>T	c.(685-687)Gcg>Tcg	p.A229S	RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000498815.1_5'UTR|RPS6_ENST00000380384.1_Missense_Mutation_p.A198S|RPS6_ENST00000315377.4_Missense_Mutation_p.A198S	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	229					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|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)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		CGTCTCTTCGCAATTTGTTCC	0.413																																						uc003znv.1		NaN																	0				ovary(1)	1						c.(685-687)GCG>TCG		ribosomal protein S6							63.0	66.0	65.0					9																	19376356		2203	4300	6503	SO:0001583	missense	6194				endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding	g.chr9:19376356C>A		CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"""S ribosomal proteins"""	10429	protein-coding gene	gene with protein product	"""40S ribosomal protein S6"", ""phosphoprotein NP33"""	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.685G>T	9.37:g.19376356C>A	ENSP00000369757:p.Ala229Ser					RPS6_uc003znu.1_Missense_Mutation_p.A198S	p.A229S	NM_001010	NP_001001	P62753	RS6_HUMAN		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)	6	727	-		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)	229					P08227|P10660|Q4VBY7|Q8N6Z7	Missense_Mutation	SNP	ENST00000380394.4	37	c.685G>T	CCDS6492.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905226	0.72868	.	.	ENSG00000137154	ENST00000380394;ENST00000380384;ENST00000315377	T;T;T	0.48201	0.82;0.82;0.82	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.50017	0.1591	L	0.54323	1.7	0.80722	D	1	P	0.38711	0.643	B	0.41691	0.364	T	0.46034	-0.9220	9	.	.	.	-11.5425	18.8394	0.92176	0.0:1.0:0.0:0.0	.	229	P62753	RS6_HUMAN	S	229;198;198	ENSP00000369757:A229S;ENSP00000369745:A198S;ENSP00000369743:A198S	.	A	-	1	0	RPS6	19366356	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.755000	0.85180	2.498000	0.84270	0.655000	0.94253	GCG		0.413	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051858.1		NM_001010		32	119	1	0	1.62565e-12	0.012213	1.70039e-12	32	119		
TEK	7010	broad.mit.edu	37	9	27169599	27169599	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:27169599C>T	ENST00000380036.4	+	4	1042	c.600C>T	c.(598-600)acC>acT	p.T200T	TEK_ENST00000406359.4_Silent_p.T200T|TEK_ENST00000519097.1_Silent_p.T96T	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	200					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|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 focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	ACCTCTTCACCTCGGCCTTCA	0.483																																						uc003zqi.3		NaN																	0				ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12						c.(598-600)ACC>ACT		TEK tyrosine kinase, endothelial precursor							116.0	107.0	110.0					9																	27169599		2203	4300	6503	SO:0001819	synonymous_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27169599C>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.600C>T	9.37:g.27169599C>T						TEK_uc010mjc.1_Silent_p.T53T|TEK_uc011lnn.1_Silent_p.T200T|TEK_uc011lno.1_Silent_p.T200T|TEK_uc011lnp.1_Silent_p.T96T|TEK_uc003zqj.1_Silent_p.T177T	p.T200T	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	4	1042	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	200			Extracellular (Potential).		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	37	c.600C>T	CCDS6519.1																																																																																				0.483	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3				18	82	0	0	0	0.00499	0	18	82		
ZBTB5	9925	broad.mit.edu	37	9	37441201	37441201	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:37441201G>C	ENST00000307750.4	-	2	1536	c.1348C>G	c.(1348-1350)Cca>Gca	p.P450A		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	450					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)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CCAGCCTCTGGACTCAACAAA	0.517																																						uc003zzx.2		NaN																	0				ovary(2)	2						c.(1348-1350)CCA>GCA		zinc finger and BTB domain containing 5							34.0	38.0	37.0					9																	37441201		2203	4300	6503	SO:0001583	missense	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37441201G>C	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1348C>G	9.37:g.37441201G>C	ENSP00000307604:p.Pro450Ala						p.P450A	NM_014872	NP_055687	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	1548	-			450						Missense_Mutation	SNP	ENST00000307750.4	37	c.1348C>G	CCDS6610.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305507	0.60305	.	.	ENSG00000168795	ENST00000307750	T	0.08102	3.13	5.45	5.45	0.79879	.	0.132855	0.51477	D	0.000100	T	0.08891	0.0220	N	0.24115	0.695	0.58432	D	0.999998	P	0.51057	0.941	P	0.46172	0.506	T	0.32295	-0.9912	10	0.08599	T	0.76	.	19.556	0.95347	0.0:0.0:1.0:0.0	.	450	O15062	ZBTB5_HUMAN	A	450	ENSP00000307604:P450A	ENSP00000307604:P450A	P	-	1	0	ZBTB5	37431201	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.941000	0.75922	2.861000	0.98227	0.650000	0.86243	CCA		0.517	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1		NM_014872		28	52	0	0	0	0.007291	0	28	52		
TRPM6	140803	broad.mit.edu	37	9	77376977	77376977	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:77376977G>A	ENST00000360774.1	-	26	4847	c.4610C>T	c.(4609-4611)gCt>gTt	p.A1537V	TRPM6_ENST00000376864.4_Missense_Mutation_p.A1537V|TRPM6_ENST00000361255.3_Missense_Mutation_p.A1532V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.A1532V|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000451710.3_Missense_Mutation_p.A1537V	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1537					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATGACTCCTAGCGAAGGGCCT	0.413																																						uc004ajl.1		NaN																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(4609-4611)GCT>GTT		transient receptor potential cation channel,							84.0	85.0	85.0					9																	77376977		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77376977G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4610C>T	9.37:g.77376977G>A	ENSP00000354006:p.Ala1537Val					TRPM6_uc004ajk.1_Missense_Mutation_p.A1532V|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.A493V	p.A1537V	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			26	4848	-			1537			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4610C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	3.224	-0.158917	0.06544	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.52754	0.75;0.75;0.75;0.75;0.65	5.18	-5.76	0.02376	.	3.055300	0.00839	N	0.001736	T	0.24812	0.0602	N	0.22421	0.69	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	0.31943	-0.9925	10	0.02654	T	1	.	4.0418	0.09755	0.33:0.1676:0.4101:0.0923	.	1537;1532;1532	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	V	1537;1537;1532;1532;1537;1110;1110	ENSP00000354006:A1537V;ENSP00000407341:A1537V;ENSP00000396672:A1532V;ENSP00000354962:A1532V;ENSP00000366060:A1537V	ENSP00000309693:A1110V	A	-	2	0	TRPM6	76566797	0.000000	0.05858	0.000000	0.03702	0.189000	0.23516	-0.237000	0.08990	-0.988000	0.03489	-0.140000	0.14226	GCT		0.413	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1		NM_017662		28	15	0	0	0	0.00632	0	28	15		
C9orf64	84267	broad.mit.edu	37	9	86571141	86571141	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:86571141C>G	ENST00000376344.3	-	1	491	c.275G>C	c.(274-276)aGa>aCa	p.R92T	C9orf64_ENST00000376340.2_5'UTR|C9orf64_ENST00000314700.1_5'UTR	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	92										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TGTTTTCCCTCTGTACCTCAC	0.592																																						uc004anb.2		NaN																	0					0						c.(274-276)AGA>ACA		hypothetical protein LOC84267							138.0	135.0	136.0					9																	86571141		2076	4203	6279	SO:0001583	missense	84267							g.chr9:86571141C>G	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.275G>C	9.37:g.86571141C>G	ENSP00000365522:p.Arg92Thr					C9orf64_uc004anc.2_5'UTR	p.R92T	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN			1	523	-			92					B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	ENST00000376344.3	37	c.275G>C	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679527	0.29783	.	.	ENSG00000165118	ENST00000376344	.	.	.	5.16	-1.34	0.09143	.	0.431297	0.26055	N	0.026614	T	0.29620	0.0739	L	0.35414	1.06	0.28837	N	0.896802	B	0.32010	0.351	B	0.34038	0.174	T	0.24404	-1.0161	9	0.51188	T	0.08	-0.8617	11.341	0.49533	0.0:0.3119:0.0:0.6881	.	92	Q5T6V5	CI064_HUMAN	T	92	.	ENSP00000365522:R92T	R	-	2	0	C9orf64	85760961	0.802000	0.28943	0.000000	0.03702	0.186000	0.23388	0.447000	0.21710	-0.196000	0.10366	0.462000	0.41574	AGA		0.592	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1		NM_032307		84	59	0	0	0	0.01441	0	84	59		
NUTM2G	441457	broad.mit.edu	37	9	99697725	99697725	+	Missense_Mutation	SNP	G	G	A	rs541253499		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:99697725G>A	ENST00000372322.3	+	3	850	c.829G>A	c.(829-831)Gag>Aag	p.E277K	NUTM2G_ENST00000354649.3_Missense_Mutation_p.E277K|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	277																	GATTTTCTACGAGATGGCGGC	0.652													.|||	1	0.000199681	0.0	0.0	5008	,	,		17456	0.0		0.0	False		,,,				2504	0.001					uc004awq.1		NaN																	0				skin(1)	1						c.(829-831)GAG>AAG		hypothetical protein LOC441457							58.0	61.0	60.0					9																	99697725		2014	4188	6202	SO:0001583	missense	441457							g.chr9:99697725G>A		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.829G>A	9.37:g.99697725G>A	ENSP00000361397:p.Glu277Lys					HIATL2_uc004awr.1_Intron	p.E277K	NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN			3	1544	+		Acute lymphoblastic leukemia(62;0.0527)	277					A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	c.829G>A	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	12.93	2.084266	0.36758	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000375230	T;T	0.36157	1.27;1.27	1.17	-1.14	0.09741	.	0.231551	0.30667	N	0.009139	T	0.32585	0.0834	M	0.70595	2.14	0.09310	N	0.999997	D	0.57899	0.981	P	0.45712	0.491	T	0.30179	-0.9987	10	0.87932	D	0	.	2.5516	0.04750	0.2368:0.3169:0.4462:0.0	.	277	Q5VZR2-2	.	K	277;277;158	ENSP00000346670:E277K;ENSP00000361397:E277K	ENSP00000346670:E277K	E	+	1	0	FAM22G	98737546	1.000000	0.71417	0.271000	0.24616	0.046000	0.14306	1.296000	0.33389	-0.344000	0.08338	-0.909000	0.02823	GAG		0.652	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2		NM_001170741		40	73	0	0	0	0.005524	0	40	73		
BAAT	570	broad.mit.edu	37	9	104130470	104130470	+	Missense_Mutation	SNP	G	G	A	rs371212382		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:104130470G>A	ENST00000395051.3	-	2	671	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	BAAT_ENST00000259407.2_Missense_Mutation_p.R201C			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	201					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TCTGGTTTGCGGGGCAGGTCT	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11980	0.0		0.0	False		,,,				2504	0.0					uc010mtd.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(601-603)CGC>TGC		bile acid Coenzyme A: amino acid	Glycine(DB00145)	G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	81.0	79.0		601,601	-8.9	0.0	9		79	0,8600		0,0,4300	no	missense,missense	BAAT	NM_001127610.1,NM_001701.3	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	201/419,201/419	104130470	1,13005	2203	4300	6503	SO:0001583	missense	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104130470G>A	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.601C>T	9.37:g.104130470G>A	ENSP00000378491:p.Arg201Cys					BAAT_uc004bbd.3_Missense_Mutation_p.R201C	p.R201C	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN			3	710	-		Acute lymphoblastic leukemia(62;0.0559)	201					Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	c.601C>T	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	G	4.012	-0.000393	0.07819	2.27E-4	0.0	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.47869	0.83;0.83	4.47	-8.95	0.00765	.	3.070920	0.00995	N	0.003597	T	0.27832	0.0685	N	0.20986	0.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16305	-1.0407	10	0.66056	D	0.02	7.5868	2.7972	0.05404	0.1153:0.3447:0.2973:0.2428	.	201	Q14032	BAAT_HUMAN	C	201	ENSP00000259407:R201C;ENSP00000378491:R201C	ENSP00000259407:R201C	R	-	1	0	BAAT	103170291	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.923000	0.00333	-2.520000	0.00498	-2.362000	0.00238	CGC		0.493	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1				17	56	0	0	0	0.008871	0	17	56		
OR1J1	347168	broad.mit.edu	37	9	125239256	125239256	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:125239256A>G	ENST00000259357.2	-	1	979	c.950T>C	c.(949-951)cTc>cCc	p.L317P	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						caaagtgttgagattacaggc	0.468																																						uc011lyu.1		NaN																	0				skin(2)	2						c.(949-951)CTC>CCC		olfactory receptor, family 1, subfamily J,							38.0	35.0	36.0					9																	125239256		2202	4298	6500	SO:0001583	missense	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239256A>G	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.950T>C	9.37:g.125239256A>G	ENSP00000259357:p.Leu317Pro					OR1J2_uc004bmj.1_Intron	p.L317P	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN			1	950	-			317			Cytoplasmic (Potential).		A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	37	c.950T>C	CCDS35120.1	.	.	.	.	.	.	.	.	.	.	A	3.875	-0.027196	0.07589	.	.	ENSG00000136834	ENST00000259357	T	0.12039	2.72	0.638	0.638	0.17742	.	.	.	.	.	T	0.04182	0.0116	N	0.08118	0	0.09310	N	0.999999	P	0.44734	0.842	B	0.26416	0.069	T	0.37430	-0.9706	8	0.29301	T	0.29	.	.	.	.	.	317	Q8NGS3	OR1J1_HUMAN	P	317	ENSP00000259357:L317P	ENSP00000259357:L317P	L	-	2	0	OR1J1	124279077	0.009000	0.17119	0.002000	0.10522	0.062000	0.15995	0.718000	0.25866	0.510000	0.28216	0.155000	0.16302	CTC		0.468	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1				6	50	0	0	0	0.001984	0	6	50		
SPTAN1	6709	broad.mit.edu	37	9	131346653	131346653	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:131346653C>T	ENST00000372731.4	+	17	2396	c.2286C>T	c.(2284-2286)ctC>ctT	p.L762L	SPTAN1_ENST00000358161.5_Silent_p.L762L|SPTAN1_ENST00000372739.3_Silent_p.L762L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	762					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGGAAGCCCTCGTGGCTCGCT	0.547																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(2284-2286)CTC>CTT		spectrin, alpha, non-erythrocytic 1							47.0	50.0	49.0					9																	131346653		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131346653C>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2286C>T	9.37:g.131346653C>T						SPTAN1_uc011mbg.1_Silent_p.L762L|SPTAN1_uc011mbh.1_Silent_p.L774L|SPTAN1_uc004bvm.3_Silent_p.L762L|SPTAN1_uc004bvn.3_Silent_p.L762L	p.L762L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			17	2399	+			762			Spectrin 8.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.2286C>T	CCDS6905.1																																																																																				0.547	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		25	9	0	0	0	0.005443	0	25	9		
SPTAN1	6709	broad.mit.edu	37	9	131347041	131347041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:131347041C>T	ENST00000372731.4	+	18	2589	c.2479C>T	c.(2479-2481)Caa>Taa	p.Q827*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.Q827*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.Q827*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	827					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAAGAAACATCAAGCCTTACA	0.448																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(2479-2481)CAA>TAA		spectrin, alpha, non-erythrocytic 1							143.0	120.0	128.0					9																	131347041		2203	4300	6503	SO:0001587	stop_gained	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131347041C>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2479C>T	9.37:g.131347041C>T	ENSP00000361816:p.Gln827*					SPTAN1_uc011mbg.1_Nonsense_Mutation_p.Q827*|SPTAN1_uc011mbh.1_Nonsense_Mutation_p.Q839*|SPTAN1_uc004bvm.3_Nonsense_Mutation_p.Q827*|SPTAN1_uc004bvn.3_Nonsense_Mutation_p.Q827*	p.Q827*	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			18	2592	+			827			Spectrin 9.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	ENST00000372731.4	37	c.2479C>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	40	8.392869	0.98791	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	17.8183	0.88642	0.0:1.0:0.0:0.0	.	.	.	.	X	827	.	ENSP00000350882:Q827X	Q	+	1	0	SPTAN1	130386862	1.000000	0.71417	0.998000	0.56505	0.805000	0.45488	5.729000	0.68538	2.449000	0.82847	0.561000	0.74099	CAA		0.448	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		59	25	0	0	0	0.01441	0	59	25		
SEC16A	9919	broad.mit.edu	37	9	139368716	139368716	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:139368716G>T	ENST00000371706.3	-	1	2851	c.2818C>A	c.(2818-2820)Cag>Aag	p.Q940K	SEC16A_ENST00000431893.2_Missense_Mutation_p.Q940K|SEC16A_ENST00000290037.6_Missense_Mutation_p.Q940K|SEC16A_ENST00000313050.7_Missense_Mutation_p.Q1118K			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	940	Pro-rich.|Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTAGAGGACTGAGGAGGCCGA	0.667																																						uc004chx.2		NaN																	0					0						c.(3352-3354)CAG>AAG		SEC16 homolog A							14.0	18.0	17.0					9																	139368716		2064	4175	6239	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139368716G>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2818C>A	9.37:g.139368716G>T	ENSP00000360771:p.Gln940Lys					SEC16A_uc004chv.3_Missense_Mutation_p.Q508K|SEC16A_uc004chw.2_Missense_Mutation_p.Q1118K|SEC16A_uc010nbn.2_Missense_Mutation_p.Q1118K|SEC16A_uc010nbo.1_Missense_Mutation_p.Q1118K	p.Q1118K	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	3	3661	-		Myeloproliferative disorder(178;0.0511)	940			Pro-rich.|Required for endoplasmic reticulum localization.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.3352C>A		.	.	.	.	.	.	.	.	.	.	G	10.84	1.462979	0.26248	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	T;T;T;T	0.23552	1.91;1.91;1.91;1.9	5.23	5.23	0.72850	.	1.165750	0.06017	N	0.650660	T	0.22513	0.0543	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.33171	0.278;0.4;0.4;0.146	B;B;B;B	0.30855	0.057;0.121;0.121;0.023	T	0.15150	-1.0447	10	0.06494	T	0.89	-9.0049	13.6709	0.62424	0.0768:0.0:0.9232:0.0	.	1118;940;940;508	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	K	1118;940;940;940;508;42	ENSP00000325827:Q1118K;ENSP00000360771:Q940K;ENSP00000290037:Q940K;ENSP00000387583:Q940K	ENSP00000290037:Q940K	Q	-	1	0	SEC16A	138488537	0.001000	0.12720	0.221000	0.23827	0.016000	0.09150	0.852000	0.27764	2.876000	0.98609	0.655000	0.94253	CAG		0.667	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1		XM_088459		26	20	1	0	4.31634e-10	0.012213	4.49413e-10	26	20		
DDX53	168400	broad.mit.edu	37	X	23019522	23019522	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:23019522G>C	ENST00000327968.5	+	1	1436	c.1348G>C	c.(1348-1350)Gaa>Caa	p.E450Q	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	450	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TGTTACCACAGAAAAAGAAAA	0.353																																						uc004daj.2		NaN																	0				large_intestine(1)|ovary(1)|kidney(1)	3						c.(1348-1350)GAA>CAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							88.0	84.0	85.0					X																	23019522		2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019522G>C	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1348G>C	X.37:g.23019522G>C	ENSP00000368667:p.Glu450Gln						p.E450Q	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	1436	+			450			Helicase C-terminal.		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.1348G>C	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826076	0.50739	.	.	ENSG00000184735	ENST00000327968	T	0.04862	3.54	4.19	4.19	0.49359	Helicase, C-terminal (1);	0.055343	0.64402	U	0.000001	T	0.06600	0.0169	L	0.35341	1.055	0.44668	D	0.997656	P	0.45594	0.862	B	0.40375	0.327	T	0.36138	-0.9760	10	0.49607	T	0.09	-0.4568	13.518	0.61551	0.0:0.0:1.0:0.0	.	450	Q86TM3	DDX53_HUMAN	Q	450	ENSP00000368667:E450Q	ENSP00000368667:E450Q	E	+	1	0	DDX53	22929443	1.000000	0.71417	0.216000	0.23742	0.033000	0.12548	3.554000	0.53720	1.838000	0.53458	0.513000	0.50165	GAA		0.353	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1		NM_182699		6	75	0	0	0	0.001168	0	6	75		
FAM47A	158724	broad.mit.edu	37	X	34148659	34148659	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:34148659G>A	ENST00000346193.3	-	1	1788	c.1737C>T	c.(1735-1737)taC>taT	p.Y579Y		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	579										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTTCTTTTATGTAGGATGCTC	0.483																																						uc004ddg.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(1735-1737)TAC>TAT		hypothetical protein LOC158724							88.0	82.0	84.0					X																	34148659		2149	4252	6401	SO:0001819	synonymous_variant	158724							g.chrX:34148659G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1737C>T	X.37:g.34148659G>A							p.Y579Y	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1770	-			579					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.1737C>T	CCDS43926.1																																																																																				0.483	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1		NM_203408		43	10	0	0	0	0.00874	0	43	10		
RPGR	6103	broad.mit.edu	37	X	38147249	38147249	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:38147249C>G	ENST00000339363.3	-	14	1785	c.1618G>C	c.(1618-1620)Gaa>Caa	p.E540Q	RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000342811.3_Missense_Mutation_p.E540Q|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.E540Q|RPGR_ENST00000378505.2_Missense_Mutation_p.E540Q|RPGR_ENST00000309513.3_Missense_Mutation_p.E478Q			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	540	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCATCGTTTTCAGTAAGAGCT	0.358																																						uc004ded.1		NaN																	0				ovary(1)	1						c.(1618-1620)GAA>CAA		retinitis pigmentosa GTPase regulator isoform C							224.0	178.0	193.0					X																	38147249		2202	4300	6502	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38147249C>G	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1618G>C	X.37:g.38147249C>G	ENSP00000343671:p.Glu540Gln					RPGR_uc004deb.2_Missense_Mutation_p.E540Q|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_Intron	p.E540Q	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			14	1786	-			540			Glu-rich.		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.1618G>C		.	.	.	.	.	.	.	.	.	.	C	2.490	-0.317633	0.05386	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T	0.39997	2.32;3.64;3.64;1.11;1.05	4.17	3.29	0.37713	.	0.377447	0.24497	U	0.038008	T	0.26702	0.0653	L	0.29908	0.895	0.21064	N	0.999792	P;P	0.39480	0.675;0.639	B;B	0.35413	0.202;0.155	T	0.08493	-1.0719	10	0.37606	T	0.19	.	8.3882	0.32512	0.234:0.766:0.0:0.0	.	540;540	E9PE28;Q92834-2	.;.	Q	540;478;540;540;540	ENSP00000343671:E540Q;ENSP00000308783:E478Q;ENSP00000322219:E540Q;ENSP00000339531:E540Q;ENSP00000367766:E540Q	ENSP00000308783:E478Q	E	-	1	0	RPGR	38032193	0.995000	0.38212	0.005000	0.12908	0.021000	0.10359	2.591000	0.46163	0.874000	0.35823	-0.337000	0.08149	GAA		0.358	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_000328		44	15	0	0	0	0.01441	0	44	15		
MED14	9282	broad.mit.edu	37	X	40540142	40540142	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:40540142C>A	ENST00000324817.1	-	20	2596	c.2478G>T	c.(2476-2478)tcG>tcT	p.S826S	MED14_ENST00000496531.2_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	826					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|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)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTGATGGATCGAATTCCATT	0.328																																						uc004dex.3		NaN																	0				breast(2)|kidney(1)|skin(1)	4						c.(2476-2478)TCG>TCT		mediator complex subunit 14							89.0	75.0	80.0					X																	40540142		2203	4300	6503	SO:0001819	synonymous_variant	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40540142C>A	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2478G>T	X.37:g.40540142C>A							p.S826S	NM_004229	NP_004220	O60244	MED14_HUMAN			20	2618	-			826					Q4KMR7|Q9UNB3	Silent	SNP	ENST00000324817.1	37	c.2478G>T	CCDS14254.1																																																																																				0.328	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1		NM_004229		3	14	1	0	6.4e-05	0.004672	6.5e-05	3	14		
HUWE1	10075	broad.mit.edu	37	X	53578103	53578103	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:53578103C>T	ENST00000342160.3	-	64	9601	c.9144G>A	c.(9142-9144)caG>caA	p.Q3048Q	HUWE1_ENST00000262854.6_Silent_p.Q3048Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3048					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGCTGGCATTCTGTGCTAGTT	0.562																																						uc004dsp.2		NaN																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(9142-9144)CAG>CAA		HECT, UBA and WWE domain containing 1							115.0	100.0	105.0					X																	53578103		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53578103C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9144G>A	X.37:g.53578103C>T						HUWE1_uc004dsn.2_Silent_p.Q1856Q	p.Q3048Q	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			65	9546	-			3048					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.9144G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	7.000	0.554626	0.13436	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.88	2.24	0.28232	.	.	.	.	.	T	0.58452	0.2123	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49899	-0.8890	4	.	.	.	.	9.7573	0.40510	0.0:0.7058:0.0:0.2942	.	.	.	.	K	2082	.	.	E	-	1	0	HUWE1	53594828	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	0.993000	0.29680	0.016000	0.14998	-0.994000	0.02522	GAA		0.562	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119		45	15	0	0	0	0.010771	0	45	15		
HUWE1	10075	broad.mit.edu	37	X	53578136	53578136	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:53578136C>G	ENST00000342160.3	-	64	9568	c.9111G>C	c.(9109-9111)caG>caC	p.Q3037H	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q3037H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3037					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCTCAGCTCTCTGCTGTGCCA	0.577																																						uc004dsp.2		NaN																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(9109-9111)CAG>CAC		HECT, UBA and WWE domain containing 1							87.0	77.0	81.0					X																	53578136		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53578136C>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9111G>C	X.37:g.53578136C>G	ENSP00000340648:p.Gln3037His					HUWE1_uc004dsn.2_Missense_Mutation_p.Q1845H	p.Q3037H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			65	9513	-			3037					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.9111G>C	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.05|12.05	1.822166|1.822166	0.32237|0.32237	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.39406	.|1.08;1.08	5.88|5.88	3.2|3.2	0.36748|0.36748	.|.	.|0.216872	.|0.40144	.|N	.|0.001171	T|T	0.51007|0.51007	0.1649|0.1649	L|L	0.35793|0.35793	1.09|1.09	0.51482|0.51482	D|D	0.999927|0.999927	.|D;D	.|0.62365	.|0.991;0.988	.|D;D	.|0.78314	.|0.991;0.984	T|T	0.47302|0.47302	-0.9128|-0.9128	5|10	.|0.87932	.|D	.|0	.|.	10.0115|10.0115	0.41990|0.41990	0.0:0.7709:0.0:0.2291|0.0:0.7709:0.0:0.2291	.|.	.|3037;3021	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	Q|H	2071|3037	.|ENSP00000340648:Q3037H;ENSP00000262854:Q3037H	.|ENSP00000262854:Q3037H	E|Q	-|-	1|3	0|2	HUWE1|HUWE1	53594861|53594861	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	0.919000|0.919000	0.28692|0.28692	0.259000|0.259000	0.21709|0.21709	-0.192000|-0.192000	0.12808|0.12808	GAG|CAG		0.577	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119		39	15	0	0	0	0.005524	0	39	15		
TRO	7216	broad.mit.edu	37	X	54957054	54957054	+	Silent	SNP	C	C	T	rs201030396		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:54957054C>T	ENST00000173898.7	+	12	4009	c.3897C>T	c.(3895-3897)ttC>ttT	p.F1299F	TRO_ENST00000420798.2_Silent_p.F830F|TRO_ENST00000375041.2_Silent_p.F902F|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1299	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATGCTAGTTTCGGCAGCACAC	0.582																																						uc004dtq.2		NaN																	0				ovary(1)	1						c.(3895-3897)TTC>TTT		trophinin isoform 5							79.0	74.0	76.0					X																	54957054		2132	4229	6361	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54957054C>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.3897C>T	X.37:g.54957054C>T						TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.F830F|TRO_uc004dtw.2_Silent_p.F902F|TRO_uc004dtx.2_Silent_p.F682F	p.F1299F	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			12	4004	+			1299			49.|62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.3897C>T	CCDS43959.1																																																																																				0.582	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3		NM_016157		68	18	0	0	0	0.01441	0	68	18		
UBQLN2	29978	broad.mit.edu	37	X	56590882	56590882	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:56590882G>C	ENST00000338222.5	+	1	857	c.576G>C	c.(574-576)caG>caC	p.Q192H		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	192					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						CCTTTGTTCAGAGCATGCTTT	0.478																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.2		NaN																	0				ovary(1)|skin(1)	2						c.(574-576)CAG>CAC		ubiquilin 2							83.0	81.0	82.0					X																	56590882		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56590882G>C	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.576G>C	X.37:g.56590882G>C	ENSP00000345195:p.Gln192His					UBQLN2_uc011moq.1_Missense_Mutation_p.Q192H	p.Q192H	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN			1	811	+			192					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.576G>C	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244038	0.58995	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.80824	-1.42	4.7	4.7	0.59300	Heat shock chaperonin-binding (1);	0.000000	0.64402	D	0.000004	D	0.92756	0.7697	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.81914	0.994;0.995	D	0.94842	0.8006	10	0.87932	D	0	-3.9837	14.2981	0.66329	0.0:0.0:1.0:0.0	.	192;192	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	H	192	ENSP00000345195:Q192H	ENSP00000345195:Q192H	Q	+	3	2	UBQLN2	56607607	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.766000	0.85320	2.342000	0.79632	0.544000	0.68410	CAG		0.478	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1		NM_013444		59	22	0	0	0	0.01441	0	59	22		
CSTF2	1478	broad.mit.edu	37	X	100086569	100086569	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:100086569C>A	ENST00000372972.2	+	9	971	c.955C>A	c.(955-957)Cga>Aga	p.R319R	CSTF2_ENST00000415585.2_Silent_p.R339R	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	319	Gly/Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CCCAACCCCTCGAGGCTTGTT	0.532																																						uc004egh.2		NaN																	0				skin(1)	1						c.(955-957)CGA>AGA		cleavage stimulation factor subunit 2							124.0	105.0	112.0					X																	100086569		2203	4300	6503	SO:0001819	synonymous_variant	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding	g.chrX:100086569C>A	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.955C>A	X.37:g.100086569C>A						CSTF2_uc010nnd.2_Silent_p.R339R|CSTF2_uc004egi.2_Silent_p.R302R	p.R319R	NM_001325	NP_001316	P33240	CSTF2_HUMAN			9	1013	+			319			Gly/Pro-rich.		Q5H951|Q6LA74|Q8N502	Silent	SNP	ENST00000372972.2	37	c.955C>A	CCDS14473.1																																																																																				0.532	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1		NM_001325		95	14	1	0	9.82936e-54	0.01441	1.06994e-53	95	14		
TENM1	10178	broad.mit.edu	37	X	123516590	123516590	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:123516590A>G	ENST00000371130.3	-	30	7412	c.7349T>C	c.(7348-7350)tTa>tCa	p.L2450S	TENM1_ENST00000422452.2_Missense_Mutation_p.L2457S|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2450					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)										TAAATTTTCTAATTCAGGTTT	0.353																																						uc004euj.2		NaN																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(7348-7350)TTA>TCA		odz, odd Oz/ten-m homolog 1 isoform 3							112.0	121.0	118.0					X																	123516590		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123516590A>G	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.7349T>C	X.37:g.123516590A>G	ENSP00000360171:p.Leu2450Ser					ODZ1_uc011muj.1_Missense_Mutation_p.L2456S|ODZ1_uc010nqy.2_Missense_Mutation_p.L2457S	p.L2450S	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			30	7413	-			2450			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7349T>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.281087	0.23392	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86865	-2.18;-2.15	5.49	3.08	0.35506	.	0.509628	0.20556	N	0.090003	T	0.67277	0.2876	N	0.04297	-0.235	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.52771	-0.8531	10	0.18276	T	0.48	.	4.9582	0.14052	0.687:0.1573:0.1557:0.0	.	2456;2457;2450	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	2450;2457	ENSP00000360171:L2450S;ENSP00000403954:L2457S	ENSP00000360171:L2450S	L	-	2	0	ODZ1	123344271	1.000000	0.71417	0.958000	0.39756	0.976000	0.68499	4.460000	0.60108	0.698000	0.31739	0.486000	0.48141	TTA		0.353	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1		NM_014253		100	24	0	0	0	0.01441	0	100	24		
MAGEA4	4103	broad.mit.edu	37	X	151092370	151092370	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:151092370C>T	ENST00000360243.2	+	3	501	c.234C>T	c.(232-234)ttC>ttT	p.F78F	MAGEA4_ENST00000370335.1_Silent_p.F78F|MAGEA4_ENST00000370340.3_Silent_p.F78F|MAGEA4_ENST00000276344.2_Silent_p.F78F|MAGEA4_ENST00000393920.1_Silent_p.F78F|MAGEA4_ENST00000393921.1_Silent_p.F78F|MAGEA4_ENST00000370337.4_Silent_p.F78F	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	78										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCAGCTTCACTTGCTGGA	0.602																																						uc004fez.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(232-234)TTC>TTT		melanoma antigen family A, 4							82.0	76.0	78.0					X																	151092370		2203	4300	6503	SO:0001819	synonymous_variant	4103						protein binding	g.chrX:151092370C>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.234C>T	X.37:g.151092370C>T						MAGEA4_uc004ffa.2_Silent_p.F78F|MAGEA4_uc004ffb.2_Silent_p.F78F|MAGEA4_uc004ffc.2_Silent_p.F78F|MAGEA4_uc004ffd.2_Silent_p.F78F	p.F78F	NM_002362	NP_002353	P43358	MAGA4_HUMAN			3	390	+	Acute lymphoblastic leukemia(192;6.56e-05)		78					Q14798	Silent	SNP	ENST00000360243.2	37	c.234C>T	CCDS14702.1																																																																																				0.602	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1		NM_002362		90	25	0	0	0	0.01441	0	90	25		
CTAG2	30848	broad.mit.edu	37	X	153880627	153880627	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:153880627G>A	ENST00000247306.4	-	2	611	c.548C>T	c.(547-549)cCa>cTa	p.P183L	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	183	Poly-Pro.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGCGGGCCTGGTGTACCAGG	0.607																																						uc004fmi.1		NaN																	0				pancreas(1)	1						c.(547-549)CCA>CTA		cancer/testis antigen 2 isoform LAGE-1b							70.0	73.0	72.0					X																	153880627		2203	4299	6502	SO:0001583	missense	30848					centrosome		g.chrX:153880627G>A	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.548C>T	X.37:g.153880627G>A	ENSP00000247306:p.Pro183Leu					CTAG2_uc004fmh.1_Intron	p.P183L	NM_020994	NP_066274	O75638	CTAG2_HUMAN			2	601	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		183			Poly-Pro.		O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	ENST00000247306.4	37	c.548C>T	CCDS14759.1	.	.	.	.	.	.	.	.	.	.	G	3.963	-0.009930	0.07727	.	.	ENSG00000126890	ENST00000247306	T	0.31247	1.5	2.59	-2.35	0.06684	.	.	.	.	.	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22521	-1.0214	9	0.87932	D	0	2.5556	4.8874	0.13710	0.2405:0.4829:0.2767:0.0	.	183	O75638	CTAG2_HUMAN	L	183	ENSP00000247306:P183L	ENSP00000247306:P183L	P	-	2	0	CTAG2	153533821	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.041000	0.13927	-0.528000	0.06366	-0.571000	0.04153	CCA		0.607	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1		NM_020994		117	37	0	0	0	0.01441	0	117	37		
TXNIP	10628	broad.mit.edu	37	1	145440778	145440779	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:145440778_145440779insA	ENST00000369317.4	+	6	1312_1313	c.978_979insA	c.(979-981)accfs	p.T327fs	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	327					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACATCCCTGATACCCCAGAAGG	0.48																																						uc001enn.3		NaN																	0				ovary(2)	2						c.(976-981)GATACCfs		thioredoxin interacting protein																																				SO:0001589	frameshift_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440778_145440779insA	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.979dupA	1.37:g.145440779_145440779dupA	ENSP00000358323:p.Thr327fs					NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Frame_Shift_Ins_p.D271fs	p.D326fs	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			6	1319_1320	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		326_327					B4E3D3|Q16226|Q6PML0|Q9BXG9	Frame_Shift_Ins	INS	ENST00000369317.4	37	c.978_979insA	CCDS913.1																																																																																				0.480	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1		NM_006472		34	140	NaN	NaN	NaN	NaN	NaN	34	140	---	---
PPP1R3C	5507	broad.mit.edu	37	10	93390301	93390311	+	Frame_Shift_Del	DEL	GCAGATCCCAC	GCAGATCCCAC	-	rs569453185		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:93390301_93390311delGCAGATCCCAC	ENST00000238994.5	-	2	411_421	c.327_337delGTGGGATCTGC	c.(325-339)gcgtgggatctgcagfs	p.WDLQ110fs		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				AGATCAAACTGCAGATCCCACGCTGGTTCTT	0.483																																						uc001kho.2		NaN																	0				breast(1)	1						c.(325-339)GCGTGGGATCTGCAGfs		protein phosphatase 1, regulatory (inhibitor)																																				SO:0001589	frameshift_variant	5507						protein serine/threonine phosphatase activity	g.chr10:93390301_93390311delGCAGATCCCAC	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.327_337delGTGGGATCTGC	10.37:g.93390301_93390311delGCAGATCCCAC	ENSP00000238994:p.Trp110fs						p.A109fs	NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN			2	459_469	-		Colorectal(252;0.235)	109_113						Frame_Shift_Del	DEL	ENST00000238994.5	37	c.327_337delGTGGGATCTGC	CCDS7416.1																																																																																				0.483	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1		NM_005398		104	81	NaN	NaN	NaN	NaN	NaN	104	81	---	---
SH3PXD2A	9644	broad.mit.edu	37	10	105372779	105372780	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:105372779_105372780insG	ENST00000369774.4	-	12	1364_1365	c.1088_1089insC	c.(1087-1089)ccafs	p.P363fs	SH3PXD2A_ENST00000427662.2_Frame_Shift_Ins_p.P225fs|SH3PXD2A_ENST00000538130.1_Frame_Shift_Ins_p.P198fs|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Frame_Shift_Ins_p.P230fs|SH3PXD2A_ENST00000355946.2_Frame_Shift_Ins_p.P335fs|RP11-416N2.4_ENST00000609691.1_RNA			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	363					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGCCTTCGGCTGGTGGAGTTTC	0.589																																						uc001kxj.1		NaN																	0					0						c.(1003-1005)CCAfs		SH3 multiple domains 1																																				SO:0001589	frameshift_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105372779_105372780insG	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1089dupC	10.37:g.105372781_105372781dupG	ENSP00000358789:p.Pro363fs					SH3PXD2A_uc010qqr.1_Frame_Shift_Ins_p.P225fs|SH3PXD2A_uc010qqs.1_Frame_Shift_Ins_p.P170fs|SH3PXD2A_uc010qqt.1_Frame_Shift_Ins_p.P212fs|SH3PXD2A_uc009xxn.1_Frame_Shift_Ins_p.P170fs|SH3PXD2A_uc010qqu.1_Frame_Shift_Ins_p.P278fs	p.P335fs	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	11	1144_1145	-		Colorectal(252;0.0815)|Breast(234;0.131)	363					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Frame_Shift_Ins	INS	ENST00000369774.4	37	c.1004_1005insC																																																																																					0.589	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1		NM_014631		7	463	NaN	NaN	NaN	NaN	NaN	7	463	---	---
MKI67	4288	broad.mit.edu	37	10	129903675	129903676	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:129903675_129903676insT	ENST00000368654.3	-	13	6803_6804	c.6428_6429insA	c.(6427-6429)accfs	p.T2143fs	MKI67_ENST00000368653.3_Frame_Shift_Ins_p.T1783fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2143	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGTGTGTGTGGTCTGTGTGAG	0.495																																						uc001lke.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(6427-6429)ACCfs		antigen identified by monoclonal antibody Ki-67																																				SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903675_129903676insT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6428_6429insA	10.37:g.129903675_129903676insT	ENSP00000357643:p.Thr2143fs					MKI67_uc001lkf.2_Frame_Shift_Ins_p.T1783fs|MKI67_uc009yav.1_Frame_Shift_Ins_p.T1718fs|MKI67_uc009yaw.1_Frame_Shift_Ins_p.T1293fs	p.T2143fs	NM_002417	NP_002408	P46013	KI67_HUMAN			13	6623_6624	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2143			16 X 122 AA approximate repeats.|10.		Q5VWH2	Frame_Shift_Ins	INS	ENST00000368654.3	37	c.6428_6429insA	CCDS7659.1																																																																																				0.495	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417		15	478	NaN	NaN	NaN	NaN	NaN	15	478	---	---
MTL5	9633	broad.mit.edu	37	11	68480836	68480836	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:68480836delT	ENST00000255087.5	-	8	1243	c.1060delA	c.(1060-1062)attfs	p.I354fs		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	354	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCTTCCCAATTTTTGGCTGG	0.473																																						uc001ooc.2		NaN																	0				ovary(2)|breast(1)	3						c.(1060-1062)ATTfs		metallothionein-like 5, testis-specific isoform							193.0	193.0	193.0					11																	68480836		2200	4294	6494	SO:0001589	frameshift_variant	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68480836delT	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.1060delA	11.37:g.68480836delT	ENSP00000255087:p.Ile354fs						p.I354fs	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		8	1200	-	Esophageal squamous(3;4.37e-12)		354					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Frame_Shift_Del	DEL	ENST00000255087.5	37	c.1060delA	CCDS8184.1																																																																																				0.473	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1		NM_004923		8	2935	NaN	NaN	NaN	NaN	NaN	8	2935	---	---
CCND1	595	broad.mit.edu	37	11	69465988	69465990	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:69465988_69465990delGAG	ENST00000227507.2	+	5	1053_1055	c.826_828delGAG	c.(826-828)gagdel	p.E280del	ORAOV1_ENST00000542515.1_5'Flank	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	280	Poly-Glu.				canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	ggaggaggaagaggaggaggagg	0.704			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	uc001opa.2		NaN		Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	IGH@|FSTL3		CLL|B-ALL|breast		0				ovary(1)|lung(1)	2						c.(826-828)GAGdel		cyclin D1	Arsenic trioxide(DB01169)																																			SO:0001651	inframe_deletion	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69465988_69465990delGAG	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.826_828delGAG	11.37:g.69465997_69465999delGAG	ENSP00000227507:p.Glu280del	Multiple Myeloma(6;0.086)					p.E280del	NM_053056	NP_444284	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		5	1035_1037	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		280			Poly-Glu.		Q6LEF0	In_Frame_Del	DEL	ENST00000227507.2	37	c.826_828delGAG	CCDS8191.1																																																																																				0.704	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2		NM_053056		8	1559	NaN	NaN	NaN	NaN	NaN	8	1559	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85438589	85438590	+	Splice_Site	DEL	TA	TA	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:85438589_85438590delTA	ENST00000393217.2	+	4	397		c.e4+2			NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTAATTAAGGTATATATTCAAT	0.272																																						uc001tac.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.e4+2		leucine-rich repeats and IQ motif containing 1																																				SO:0001630	splice_region_variant	84125							g.chr12:85438589_85438590delTA	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.336+2TA>-	12.37:g.85438593_85438594delTA						LRRIQ1_uc001tab.1_Splice_Site_p.K112_splice|LRRIQ1_uc001taa.1_Splice_Site_p.K112_splice|LRRIQ1_uc001tad.2_Splice_Site_p.K20_splice	p.K112_splice	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	4	447	+								Q567P4|Q9BS17|Q9HA36	Splice_Site	DEL	ENST00000393217.2	37	c.336_splice	CCDS41816.1																																																																																				0.272	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2		NM_032165	Intron	29	35	NaN	NaN	NaN	NaN	NaN	29	35	---	---
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-	rs371570689		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aaafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428																																						uc001upy.2		NaN																	1	Deletion - Frameshift(1)		ovary(1)	ovary(3)|skin(1)	4						c.(997-999)AAAfs		poly(A) binding protein, cytoplasmic 3							162.0	159.0	160.0					13																	25671333		2203	4300	6503	SO:0001589	frameshift_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671333delA	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.997delA	13.37:g.25671333delA	ENSP00000281589:p.Lys333fs						p.K333fs	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1058	+		Lung SC(185;0.0225)|Breast(139;0.0602)	333			RRM 4.		Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	c.997delA	CCDS9311.1																																																																																				0.428	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2		NM_030979		7	229	NaN	NaN	NaN	NaN	NaN	7	229	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs			P24001	IL32_HUMAN	interleukin 32	218					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						CCACGGGGGGACAAGGAGGAGC	0.574																																						uc002cto.2		NaN																	0				pancreas(1)	1						c.(652-654)GACfs		interleukin 32 isoform B																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	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	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_uc002ctk.2_Frame_Shift_Ins_p.D115fs|IL32_uc010uwp.1_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.2_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctn.2_Frame_Shift_Ins_p.D172fs|IL32_uc002cts.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctq.2_Frame_Shift_Ins_p.D218fs|IL32_uc002ctr.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.2_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.1_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.2_Frame_Shift_Ins_p.D163fs	p.D218fs	NM_004221	NP_004212	P24001	IL32_HUMAN			6	864_865	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.653_654insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2		NM_004221		9	607	NaN	NaN	NaN	NaN	NaN	9	607	---	---
TP53	7157	broad.mit.edu	37	17	7579315	7579316	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:7579315_7579316insC	ENST00000269305.4	-	4	560_561	c.371_372insG	c.(370-372)tgcfs	p.C124fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	124	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AACTGACCGTGCAAGTCACAGA	0.545		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		25	Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Nonsense(3)|Insertion - Frameshift(2)|Substitution - Missense(2)|Deletion - In frame(1)	p.0?(7)|p.C124R(4)|p.G59fs*23(3)|p.C124fs*46(2)|p.C124G(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.C124fs*0(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124fs*48(1)|p.C124Y(1)|p.C124fs*25(1)	lung(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|breast(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(370-372)TGCfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579315_7579316insC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.372dupG	17.37:g.7579316_7579316dupC	ENSP00000269305:p.Cys124fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Ins_p.C124fs|TP53_uc002gih.2_Frame_Shift_Ins_p.C124fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.C124fs|TP53_uc010cni.1_Frame_Shift_Ins_p.C124fs|TP53_uc002gij.2_Frame_Shift_Ins_p.C124fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Ins_p.C85fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.C139fs	p.C124fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	565_566	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	124		C -> R (in sporadic cancers; somatic mutation).|C -> G (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.371_372insG	CCDS11118.1																																																																																				0.545	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		96	38	NaN	NaN	NaN	NaN	NaN	96	38	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-	rs151129136		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:38882864_38882866delCCT	ENST00000338502.4	+	3	462_464	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_ENST00000587013.1_In_Frame_Del_p.S172del|SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del|SPRED3_ENST00000587564.2_3'UTR	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645																																						uc002oim.2		NaN																	0				central_nervous_system(2)|lung(1)|skin(1)	4						c.(358-363)CCCTCC>CCC		sprouty-related, EVH1 domain containing 3			,	401,4,3395		26,0,349,0,4,1521					,	3.3	0.9		dbSNP_134	44	1035,11,6892		107,0,821,1,9,3031	no	codingComplex,codingComplex	SPRED3	NM_001042522.1,NM_001039616.1	,	133,0,1170,1,13,4552	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1771,10.6579,12.3616	,	,		1436,15,10287				SO:0001651	inframe_deletion	399473				multicellular organismal development			g.chr19:38882864_38882866delCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.359_361delCCT	19.37:g.38882873_38882875delCCT	ENSP00000345405:p.Ser128del					SPRED3_uc002oil.1_In_Frame_Del_p.S128del	p.S128del	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	363_365	+	all_cancers(60;3.4e-06)		128			Ser-rich.		Q2MJR1	In_Frame_Del	DEL	ENST00000338502.4	37	c.359_361delCCT	CCDS42560.1																																																																																				0.645	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1		XM_351191		12	169	NaN	NaN	NaN	NaN	NaN	12	169	---	---
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-	rs372349446		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)aagdel	p.K349del	FAM98C_ENST00000588262.1_3'UTR|FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606																																						uc002oin.1		NaN																	0				skin(1)	1						c.(1030-1032)AAGdel		hypothetical protein LOC147965				414,186,2888		21,2,370,1,182,1168						-2.6	0.1		dbSNP_134	37	186,506,7042		7,0,172,3,500,3185	no	codingComplex	FAM98C	NM_174905.3		28,2,542,4,682,4353	A1A1,A1A2,A1R,A2A2,A2R,RR		8.9475,17.2018,11.5131				600,692,9930				SO:0001651	inframe_deletion	147965							g.chr19:38899502_38899504delAAG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.1030_1032delAAG	19.37:g.38899511_38899513delAAG	ENSP00000252530:p.Lys349del					FAM98C_uc002oio.1_In_Frame_Del_p.K267del|FAM98C_uc010xtz.1_3'UTR	p.K349del	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	1049_1051	+	all_cancers(60;3.95e-06)		349					A6NMW3|Q66K45	In_Frame_Del	DEL	ENST00000252530.5	37	c.1030_1032delAAG	CCDS42562.1																																																																																				0.606	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1		NM_174905		13	249	NaN	NaN	NaN	NaN	NaN	13	249	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)gagggc>ggc	p.E711del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.E447del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557																																						uc002pdm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2131-2136)GAGGGC>GGC		radial spokehead-like 1																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299147_46299149delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2132_2134delAGG	19.37:g.46299156_46299158delCCT	ENSP00000221538:p.Glu711del					RSPH6A_uc002pdl.2_In_Frame_Del_p.E447del	p.E711del	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN			6	2275_2277	-			711			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2132_2134delAGG	CCDS12675.1																																																																																				0.557	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1				22	739	NaN	NaN	NaN	NaN	NaN	22	739	---	---
MED15	51586	broad.mit.edu	37	22	20920813	20920814	+	In_Frame_Ins	INS	-	-	CAG	rs67182670|rs361923|rs535773989|rs539945336	byFrequency	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:20920813_20920814insCAG	ENST00000263205.7	+	7	819_820	c.750_751insCAG	c.(751-753)cag>CAGcag	p.251_251Q>QQ	MED15_ENST00000541476.1_In_Frame_Ins_p.225_225Q>QQ|MED15_ENST00000292733.7_In_Frame_Ins_p.251_251Q>QQ|MED15_ENST00000382974.2_In_Frame_Ins_p.180_180Q>QQ|MED15_ENST00000406969.1_In_Frame_Ins_p.225_225Q>QQ|MED15_ENST00000542773.1_In_Frame_Ins_p.56_56Q>QQ|MED15_ENST00000425759.2_In_Frame_Ins_p.140_140Q>QQ|MED15_ENST00000478831.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	251	Poly-Gln.			Missing (in Ref. 3; BAB85034). {ECO:0000305}.	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)	p.Q250_Q251insQ(4)		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)			aacaacagcaacagcagcagca	0.589																																						uc002zsp.2		NaN																	4	Insertion - In frame(4)		ovary(2)|large_intestine(2)	skin(1)	1						c.(748-753)insCAG		mediator complex subunit 15 isoform a																																				SO:0001652	inframe_insertion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20920813_20920814insCAG	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.784_786dupCAG	22.37:g.20920820_20920822dupCAG	ENSP00000263205:p.Gln262dup					MED15_uc002zso.2_In_Frame_Ins_p.191_192insQ|MED15_uc002zsq.2_In_Frame_Ins_p.262_263insQ|MED15_uc010gso.2_In_Frame_Ins_p.262_263insQ|MED15_uc002zsr.2_In_Frame_Ins_p.236_237insQ|MED15_uc011ahs.1_In_Frame_Ins_p.236_237insQ|MED15_uc002zss.2_In_Frame_Ins_p.181_182insQ|MED15_uc011ahu.1_5'UTR	p.262_263insQ	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		7	830_831	+	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)	262_263	Missing (in Ref. 3; BAB85034).				D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Ins	INS	ENST00000263205.7	37	c.750_751insCAG	CCDS33602.1																																																																																				0.589	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2		NM_015889		13	116	NaN	NaN	NaN	NaN	NaN	13	116	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-	rs530167757	byFrequency	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:184039744_184039746delGAA	ENST00000346169.2	+	10	1643_1645	c.1372_1374delGAA	c.(1372-1374)gaadel	p.E465del	EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000342981.4_In_Frame_Del_p.E465del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562																																						uc003fnp.2		NaN																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1372-1374)GAAdel		eukaryotic translation initiation factor 4																																				SO:0001651	inframe_deletion	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039744_184039746delGAA	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1372_1374delGAA	3.37:g.184039753_184039755delGAA	ENSP00000316879:p.Glu465del					EIF4G1_uc003fno.1_In_Frame_Del_p.E406del|EIF4G1_uc010hxw.1_In_Frame_Del_p.E301del|EIF4G1_uc003fnt.2_In_Frame_Del_p.E176del|EIF4G1_uc003fnq.2_In_Frame_Del_p.E378del|EIF4G1_uc003fnr.2_In_Frame_Del_p.E301del|EIF4G1_uc010hxx.2_In_Frame_Del_p.E472del|EIF4G1_uc003fns.2_In_Frame_Del_p.E425del|EIF4G1_uc010hxy.2_In_Frame_Del_p.E472del|EIF4G1_uc003fnv.3_In_Frame_Del_p.E465del|EIF4G1_uc003fnu.3_In_Frame_Del_p.E465del|EIF4G1_uc003fnw.2_In_Frame_Del_p.E472del|EIF4G1_uc003fnx.2_In_Frame_Del_p.E269del|EIF4G1_uc003fny.3_In_Frame_Del_p.E269del	p.E465del	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1570_1572	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		465			Poly-Glu.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	In_Frame_Del	DEL	ENST00000346169.2	37	c.1372_1374delGAA	CCDS3259.1																																																																																				0.562	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1		NM_182917		12	668	NaN	NaN	NaN	NaN	NaN	12	668	---	---
TNK2	10188	broad.mit.edu	37	3	195599180	195599181	+	Frame_Shift_Ins	INS	-	-	G	rs566778334|rs548592570		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:195599180_195599181insG	ENST00000333602.6	-	10	2034_2035	c.1417_1418insC	c.(1417-1419)cgcfs	p.R473fs	TNK2_ENST00000381916.2_Frame_Shift_Ins_p.R536fs|TNK2_ENST00000316664.3_Frame_Shift_Ins_p.R473fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.R473fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.R505fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	473				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)	p.R473H(1)|p.R536H(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCAGCAGTGGCGGGGGTCACTG	0.673																																						uc003fvu.1		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(1417-1419)CGCfs		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195599180_195599181insG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1418dupC	3.37:g.195599185_195599185dupG	ENSP00000329425:p.Arg473fs					TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Frame_Shift_Ins_p.R505fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.R536fs|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Frame_Shift_Ins_p.R303fs	p.R473fs	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	10	1960_1961	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	473	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Ins	INS	ENST00000333602.6	37	c.1417_1418insC	CCDS33928.1																																																																																				0.673	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3		NM_005781		19	288	NaN	NaN	NaN	NaN	NaN	19	288	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-	rs372401787		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626																																						uc003hrx.2		NaN																	0				skin(1)	1						c.(472-477)GAGGCT>GCT		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618431_89618433delCCT	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.473_475delAGG	4.37:g.89618440_89618442delCCT	ENSP00000320488:p.Glu158del					HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	p.E158del	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	591_593	-			158			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.473_475delAGG	CCDS3632.1																																																																																				0.626	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1		NM_153757		7	304	NaN	NaN	NaN	NaN	NaN	7	304	---	---
PCDH10	57575	broad.mit.edu	37	4	134072435	134072435	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:134072435delC	ENST00000264360.5	+	1	1966	c.1140delC	c.(1138-1140)ttcfs	p.F380fs	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	380	Cadherin 4. {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(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGCCCTTTTCAGCGTGACTG	0.577																																						uc003iha.2		NaN																	0				ovary(2)	2						c.(1138-1140)TTCfs		protocadherin 10 isoform 1 precursor							90.0	91.0	91.0					4																	134072435		2203	4300	6503	SO:0001589	frameshift_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072435delC	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1140delC	4.37:g.134072435delC	ENSP00000264360:p.Phe380fs					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Frame_Shift_Del_p.F380fs	p.F380fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1966	+			380			Cadherin 4.|Extracellular (Potential).		Q4W5F6|Q96SF0	Frame_Shift_Del	DEL	ENST00000264360.5	37	c.1140delC	CCDS34063.1																																																																																				0.577	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2		NM_032961		202	192	NaN	NaN	NaN	NaN	NaN	202	192	---	---
HIST1H1A	3024	broad.mit.edu	37	6	26017448	26017448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:26017448delT	ENST00000244573.3	-	1	592	c.513delA	c.(511-513)aaafs	p.K171fs		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	171					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CAGTTTTGGGTTTTTTTGGAT	0.483																																						uc003nfo.2		NaN																	0				ovary(2)	2						c.(511-513)AAAfs		histone cluster 1, H1a							172.0	184.0	180.0					6																	26017448		2203	4300	6503	SO:0001589	frameshift_variant	3024				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr6:26017448delT	AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"""Histones / Replication-dependent"""	4715	protein-coding gene	gene with protein product		142709	"""H1 histone family, member 1"", ""histone 1, H1a"""	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.513delA	6.37:g.26017448delT	ENSP00000244573:p.Lys171fs						p.K171fs	NM_005325	NP_005316	Q02539	H11_HUMAN			1	593	-			171					Q3MJ34	Frame_Shift_Del	DEL	ENST00000244573.3	37	c.513delA	CCDS4569.1																																																																																				0.483	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1		NM_005325		7	1492	NaN	NaN	NaN	NaN	NaN	7	1492	---	---
KDM6A	7403	broad.mit.edu	37	X	44950105	44950111	+	Splice_Site	DEL	ATTAAGT	ATTAAGT	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08			ATTAAGT	-	ATTAAGT	ATTAAGT		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:44950105_44950111delATTAAGT	ENST00000377967.4	+	26	3915_3919	c.3874_3878delATTAAGT	c.(3874-3879)attaag>g	p.IK1292fs	KDM6A_ENST00000382899.4_Splice_Site_p.IK1299fs|KDM6A_ENST00000536777.1_Splice_Site_p.IK1247fs|KDM6A_ENST00000543216.1_Splice_Site_p.IK1213fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1292					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTTTGAAATGATTAAGTAAGTCTTTTC	0.353			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		6	Whole gene deletion(6)		oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.e26+1		ubiquitously transcribed tetratricopeptide																																				SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44950105_44950111delATTAAGT	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3878+1ATTAAGT>-	X.37:g.44950105_44950111delATTAAGT						KDM6A_uc011mkz.1_Splice_Site_p.K1345_splice|KDM6A_uc011mla.1_Splice_Site_p.K1248_splice|KDM6A_uc011mlb.1_Splice_Site_p.K1300_splice|KDM6A_uc011mlc.1_Splice_Site_p.K997_splice|KDM6A_uc011mld.1_Splice_Site_p.K932_splice	p.K1293_splice	NM_021140	NP_066963	O15550	KDM6A_HUMAN			26	4253	+								Q52LL9|Q5JVQ7	Splice_Site	DEL	ENST00000377967.4	37	c.3878_splice	CCDS14265.1																																																																																				0.353	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140	Frame_Shift_Del	18	16	NaN	NaN	NaN	NaN	NaN	18	16	---	---
