#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
PLCH2	9651	broad.mit.edu	37	1	2419057	2419057	+	Missense_Mutation	SNP	G	G	A	rs370532898		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:2419057G>A	ENST00000419816.2	+	8	1409	c.1135G>A	c.(1135-1137)Gac>Aac	p.D379N	PLCH2_ENST00000378486.3_Missense_Mutation_p.D379N|PLCH2_ENST00000449969.1_Missense_Mutation_p.D352N|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.D379N			O75038	PLCH2_HUMAN	phospholipase C, eta 2	379	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGATGGGCCCGACGGGGAGCC	0.567																																						uc001aji.1		NaN																	0				central_nervous_system(3)|ovary(1)|skin(1)	5						c.(1135-1137)GAC>AAC		phospholipase C, eta 2		G	ASN/ASP	0,4052		0,0,2026	33.0	37.0	36.0		1135	4.8	0.1	1		36	1,8343		0,1,4171	no	missense	PLCH2	NM_014638.2	23	0,1,6197	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	379/1417	2419057	1,12395	2026	4172	6198	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2419057G>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1135G>A	1.37:g.2419057G>A	ENSP00000389803:p.Asp379Asn					PLCH2_uc010nyz.1_Missense_Mutation_p.D167N|PLCH2_uc009vle.1_Missense_Mutation_p.D167N|PLCH2_uc001ajj.1_Missense_Mutation_p.D167N|PLCH2_uc001ajk.1_Missense_Mutation_p.D167N	p.D379N	NM_014638	NP_055453	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	8	1409	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	379			PI-PLC X-box.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.1135G>A		.	.	.	.	.	.	.	.	.	.	G	15.55	2.866723	0.51588	0.0	1.2E-4	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.55760	0.5;0.5;0.5	4.77	4.77	0.60923	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.050881	0.85682	D	0.000000	T	0.66307	0.2776	L	0.42686	1.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.995;0.999;0.993	T	0.70185	-0.4941	10	0.87932	D	0	.	16.7595	0.85508	0.0:0.0:1.0:0.0	.	226;167;352;379	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	N	352;379;379;226;167	ENSP00000397289:D352N;ENSP00000367747:D379N;ENSP00000367749:D379N	ENSP00000278878:D167N	D	+	1	0	PLCH2	2408917	1.000000	0.71417	0.072000	0.20136	0.078000	0.17371	9.538000	0.98072	2.200000	0.70718	0.561000	0.74099	GAC		0.567	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1		NM_014638		4	25	0	0	0	1	0	4	25		
RHCE	6006	broad.mit.edu	37	1	25729193	25729193	+	Missense_Mutation	SNP	G	G	A	rs1053346		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:25729193G>A	ENST00000294413.7	-	3	438	c.380C>T	c.(379-381)gCg>gTg	p.A127V	RHCE_ENST00000425135.1_Missense_Mutation_p.A127V|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000340849.4_Missense_Mutation_p.A127V|RHCE_ENST00000243186.6_Missense_Mutation_p.A127V|RHCE_ENST00000346452.4_Missense_Mutation_p.A127V|RHCE_ENST00000374352.2_Missense_Mutation_p.A111V|RHCE_ENST00000455194.1_Missense_Mutation_p.A127V|RHCE_ENST00000413854.1_Missense_Mutation_p.A127V|RHCE_ENST00000349438.4_Missense_Mutation_p.A127V|RHCE_ENST00000349320.3_Missense_Mutation_p.A111V	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	127			A -> V (in dbSNP:rs1053346). {ECO:0000269|PubMed:11724987}.			integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GACAGCACCCGCTGAGATCAG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		17972	0.0		0.001	False		,,,				2504	0.0					uc001bkf.2		NaN																	0					0						c.(379-381)GCG>GTG		Rhesus blood group, CcEe antigens isoform 1							213.0	167.0	183.0					1																	25729193		2203	4300	6503	SO:0001583	missense	6006					integral to plasma membrane		g.chr1:25729193G>A	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.380C>T	1.37:g.25729193G>A	ENSP00000294413:p.Ala127Val					RHCE_uc001bkg.2_Missense_Mutation_p.A127V|RHCE_uc001bkh.2_Missense_Mutation_p.A127V|RHCE_uc001bki.2_Missense_Mutation_p.A127V|RHCE_uc001bkj.2_Missense_Mutation_p.A111V	p.A127V	NM_020485	NP_065231	P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	3	466	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	127			Helical; (Potential).		A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Missense_Mutation	SNP	ENST00000294413.7	37	c.380C>T	CCDS30635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	2.738|2.738	-0.262788|-0.262788	0.05754|0.05754	.|.	.|.	ENSG00000188672|ENSG00000188672	ENST00000413854;ENST00000539650;ENST00000455194;ENST00000374352;ENST00000243186;ENST00000425135;ENST00000340849;ENST00000349320;ENST00000346452;ENST00000294413;ENST00000447203;ENST00000349438|ENST00000527747	T;T;T;T;T;T;T;T;T;T|.	0.21031|.	2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03|.	4.56|4.56	-2.33|-2.33	0.06724|0.06724	Ammonium transporter AmtB-like (3);|.	0.899101|.	0.09711|.	N|.	0.765691|.	T|T	0.28134|0.28134	0.0694|0.0694	N|N	0.20986|0.20986	0.625|0.625	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.32396|.	0.016;0.369;0.369;0.006;0.0|.	B;B;B;B;B|.	0.31442|.	0.013;0.13;0.09;0.013;0.004|.	T|T	0.27706|0.27706	-1.0066|-1.0066	10|5	0.23302|.	T|.	0.38|.	-0.5582|-0.5582	10.4713|10.4713	0.44638|0.44638	0.4992:0.0:0.5008:0.0|0.4992:0.0:0.5008:0.0	rs1053346;rs3193859;rs17418070|rs1053346;rs3193859;rs17418070	111;127;127;127;127|.	Q5VSJ9;E7EQ47;Q5VSJ7;Q5VSJ8;P18577|.	.;.;.;.;RHCE_HUMAN|.	V|W	127;127;127;111;127;127;127;111;127;127;127;127|1	ENSP00000415417:A127V;ENSP00000416275:A127V;ENSP00000363472:A111V;ENSP00000243186:A127V;ENSP00000392809:A127V;ENSP00000345084:A127V;ENSP00000311185:A111V;ENSP00000344485:A127V;ENSP00000294413:A127V;ENSP00000334570:A127V|.	ENSP00000243186:A127V|.	A|R	-|-	2|1	0|2	RHCE|RHCE	25601780|25601780	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.944000|-0.944000	0.03913|0.03913	-1.013000|-1.013000	0.03383|0.03383	-1.803000|-1.803000	0.00618|0.00618	GCG|CGG		0.552	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2		NM_020485		23	31	0	0	0	1	0	23	31		
MACF1	23499	broad.mit.edu	37	1	39824382	39824382	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:39824382G>C	ENST00000372915.3	+	45	12059	c.11972G>C	c.(11971-11973)gGa>gCa	p.G3991A	MACF1_ENST00000545844.1_Missense_Mutation_p.G1924A|MACF1_ENST00000564288.1_Missense_Mutation_p.G3986A|MACF1_ENST00000567887.1_Missense_Mutation_p.G4023A|MACF1_ENST00000289893.4_Missense_Mutation_p.G2426A|MACF1_ENST00000361689.2_Missense_Mutation_p.G1924A|MACF1_ENST00000539005.1_Missense_Mutation_p.G1924A|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.G1924A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3991					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACACGATTAGGATCTCACCTG	0.502																																						uc010oiu.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(7276-7278)GGA>GCA		microfilament and actin filament cross-linker							84.0	81.0	82.0					1																	39824382		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39824382G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11972G>C	1.37:g.39824382G>C	ENSP00000362006:p.Gly3991Ala					MACF1_uc010ois.1_Missense_Mutation_p.G1924A|MACF1_uc001cda.1_Missense_Mutation_p.G1832A|MACF1_uc001cdc.1_Missense_Mutation_p.G1011A|MACF1_uc001cdb.1_Missense_Mutation_p.G1011A	p.G2426A	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		10	7408	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3991					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.7277G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.453706|4.453706	0.84209|0.84209	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.34275|.	1.37;1.37;1.37;1.37;1.37;1.37|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|T	0.78426|0.78426	0.4281|0.4281	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.97110|.	0.999;1.0;1.0;0.995|.	T|T	0.77765|0.77765	-0.2465|-0.2465	10|5	0.34782|.	T|.	0.22|.	.|.	19.6865|19.6865	0.95981|0.95981	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3991;1924;1924;1889|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	A|S	1924;3991;1924;1924;1924;2426|1057	ENSP00000439537:G1924A;ENSP00000362006:G3991A;ENSP00000354573:G1924A;ENSP00000313438:G1924A;ENSP00000444364:G1924A;ENSP00000289893:G2426A|.	ENSP00000289893:G2426A|.	G|R	+|+	2|3	0|2	MACF1|MACF1	39596969|39596969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	8.202000|8.202000	0.89737|0.89737	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.502	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		16	38	0	0	0	1	0	16	38		
MACF1	23499	broad.mit.edu	37	1	39824525	39824525	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:39824525G>C	ENST00000372915.3	+	45	12202	c.12115G>C	c.(12115-12117)Gag>Cag	p.E4039Q	MACF1_ENST00000545844.1_Missense_Mutation_p.E1972Q|MACF1_ENST00000564288.1_Missense_Mutation_p.E4034Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E4071Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E2474Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E1972Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E1972Q|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.E1972Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4039					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTTCTCCAGGAGCAGCTTGC	0.512																																						uc010oiu.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(7420-7422)GAG>CAG		microfilament and actin filament cross-linker							64.0	61.0	62.0					1																	39824525		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39824525G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12115G>C	1.37:g.39824525G>C	ENSP00000362006:p.Glu4039Gln					MACF1_uc010ois.1_Missense_Mutation_p.E1972Q|MACF1_uc001cda.1_Missense_Mutation_p.E1880Q|MACF1_uc001cdc.1_Missense_Mutation_p.E1059Q|MACF1_uc001cdb.1_Missense_Mutation_p.E1059Q	p.E2474Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		10	7551	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4039			Spectrin 2.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.7420G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.378|1.378	-0.584122|-0.584122	0.03827|0.03827	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.50001|.	0.76;0.76;0.76;0.76;0.76;0.76|.	5.32|5.32	3.46|3.46	0.39613|0.39613	.|.	0.218004|.	0.32459|.	N|.	0.006078|.	T|T	0.20861|0.20861	0.0502|0.0502	N|N	0.01800|0.01800	-0.715|-0.715	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.06786|.	0.0;0.0;0.001;0.001|.	B;B;B;B|.	0.12837|.	0.001;0.002;0.002;0.008|.	T|T	0.04961|0.04961	-1.0915|-1.0915	10|5	0.02654|.	T|.	1|.	.|.	9.4829|9.4829	0.38911|0.38911	0.2803:0.3866:0.3331:0.0|0.2803:0.3866:0.3331:0.0	.|.	4039;1972;1972;1937|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	Q|A	1972;4039;1972;1972;1972;2474|1105	ENSP00000439537:E1972Q;ENSP00000362006:E4039Q;ENSP00000354573:E1972Q;ENSP00000313438:E1972Q;ENSP00000444364:E1972Q;ENSP00000289893:E2474Q|.	ENSP00000289893:E2474Q|.	E|G	+|+	1|2	0|0	MACF1|MACF1	39597112|39597112	0.986000|0.986000	0.35501|0.35501	0.743000|0.743000	0.31040|0.31040	0.395000|0.395000	0.30598|0.30598	0.384000|0.384000	0.20668|0.20668	0.736000|0.736000	0.32559|0.32559	-0.796000|-0.796000	0.03273|0.03273	GAG|GGA		0.512	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		15	42	0	0	0	1	0	15	42		
MACF1	23499	broad.mit.edu	37	1	39824885	39824885	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:39824885G>A	ENST00000372915.3	+	46	12295	c.12208G>A	c.(12208-12210)Gaa>Aaa	p.E4070K	MACF1_ENST00000545844.1_Missense_Mutation_p.E2003K|MACF1_ENST00000564288.1_Missense_Mutation_p.E4065K|MACF1_ENST00000567887.1_Missense_Mutation_p.E4102K|MACF1_ENST00000289893.4_Missense_Mutation_p.E2505K|MACF1_ENST00000361689.2_Missense_Mutation_p.E2003K|MACF1_ENST00000539005.1_Missense_Mutation_p.E2003K|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.E2003K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4070					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGACATAATGGAAATTGAAGG	0.423																																						uc010oiu.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(7513-7515)GAA>AAA		microfilament and actin filament cross-linker							88.0	83.0	85.0					1																	39824885		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39824885G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12208G>A	1.37:g.39824885G>A	ENSP00000362006:p.Glu4070Lys					MACF1_uc010ois.1_Missense_Mutation_p.E2003K|MACF1_uc001cda.1_Missense_Mutation_p.E1911K|MACF1_uc001cdc.1_Missense_Mutation_p.E1090K|MACF1_uc001cdb.1_Missense_Mutation_p.E1090K	p.E2505K	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		11	7644	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4070			Spectrin 2.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.7513G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.70|17.70	3.455208|3.455208	0.63401|0.63401	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.36878|.	1.23;1.23;1.23;1.23;1.23;1.23|.	5.35|5.35	2.48|2.48	0.30137|0.30137	.|.	0.273273|.	0.31415|.	N|.	0.007684|.	T|T	0.56717|0.56717	0.2004|0.2004	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P;B;P;B|.	0.42337|.	0.776;0.051;0.768;0.249|.	B;B;B;B|.	0.42625|.	0.393;0.096;0.253;0.287|.	T|T	0.48258|0.48258	-0.9051|-0.9051	10|5	0.48119|.	T|.	0.1|.	.|.	9.168|9.168	0.37063|0.37063	0.2234:0.0:0.7766:0.0|0.2234:0.0:0.7766:0.0	.|.	4070;2003;2003;1968|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	K|E	2003;4070;2003;2003;2003;2505|1136	ENSP00000439537:E2003K;ENSP00000362006:E4070K;ENSP00000354573:E2003K;ENSP00000313438:E2003K;ENSP00000444364:E2003K;ENSP00000289893:E2505K|.	ENSP00000289893:E2505K|.	E|G	+|+	1|2	0|0	MACF1|MACF1	39597472|39597472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	4.304000|4.304000	0.59104|0.59104	0.345000|0.345000	0.23873|0.23873	-0.253000|-0.253000	0.11424|0.11424	GAA|GGA		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		16	62	0	0	0	1	0	16	62		
ZMPSTE24	10269	broad.mit.edu	37	1	40737653	40737653	+	Missense_Mutation	SNP	G	G	A	rs267607181		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:40737653G>A	ENST00000372759.3	+	6	880	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	239					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			AGAAGAAATTGAAGTAATGGC	0.373																																						uc001cfg.2		NaN																	0					0						c.(715-717)GAA>AAA		zinc metallopeptidase STE24							122.0	116.0	118.0					1																	40737653		2203	4300	6503	SO:0001583	missense	10269					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	g.chr1:40737653G>A	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.715G>A	1.37:g.40737653G>A	ENSP00000361845:p.Glu239Lys						p.E239K	NM_005857	NP_005848	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		6	926	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	239					B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	ENST00000372759.3	37	c.715G>A	CCDS449.1	.	.	.	.	.	.	.	.	.	.	G	34	5.345299	0.95807	.	.	ENSG00000084073	ENST00000372759	T	0.75260	-0.92	5.3	5.3	0.74995	.	0.094516	0.64402	D	0.000001	D	0.85274	0.5659	M	0.71581	2.175	0.80722	D	1	D	0.56746	0.977	D	0.67382	0.951	D	0.85611	0.1258	10	0.51188	T	0.08	-12.8885	18.5458	0.91045	0.0:0.0:1.0:0.0	.	239	O75844	FACE1_HUMAN	K	239	ENSP00000361845:E239K	ENSP00000361845:E239K	E	+	1	0	ZMPSTE24	40510240	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.231000	0.95317	2.474000	0.83562	0.579000	0.79373	GAA		0.373	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1				18	90	0	0	0	1	0	18	90		
IPO13	9670	broad.mit.edu	37	1	44424184	44424184	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:44424184C>T	ENST00000372343.3	+	10	2463	c.1801C>T	c.(1801-1803)Ctt>Ttt	p.L601F		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	601					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCTGTCAGCTCTTCAAGTGGA	0.552																																						uc001ckx.2		NaN																	0				central_nervous_system(1)	1						c.(1801-1803)CTT>TTT		importin 13							77.0	79.0	78.0					1																	44424184		2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44424184C>T	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1801C>T	1.37:g.44424184C>T	ENSP00000361418:p.Leu601Phe						p.L601F	NM_014652	NP_055467	O94829	IPO13_HUMAN			10	2596	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	601			HEAT 10.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.1801C>T	CCDS503.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036218	0.75617	.	.	ENSG00000117408	ENST00000372343	T	0.68765	-0.35	5.81	1.87	0.25490	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.76528	0.4000	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75969	-0.3130	10	0.66056	D	0.02	-12.4201	10.8911	0.46996	0.0:0.7434:0.0:0.2566	.	601	O94829	IPO13_HUMAN	F	601	ENSP00000361418:L601F	ENSP00000361418:L601F	L	+	1	0	IPO13	44196771	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	2.414000	0.44627	0.386000	0.24997	-0.142000	0.14014	CTT		0.552	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1		NM_014652		9	96	0	0	0	1	0	9	96		
FOXD2	2306	broad.mit.edu	37	1	47904362	47904362	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:47904362C>G	ENST00000334793.5	+	1	2674	c.555C>G	c.(553-555)ttC>ttG	p.F185L		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	185					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		ACGACTGCTTCGTCAAGATCC	0.637																																						uc001crm.2		NaN																	0					0						c.(553-555)TTC>TTG		forkhead box D2							69.0	84.0	79.0					1																	47904362		2203	4300	6503	SO:0001583	missense	2306				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:47904362C>G	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"""Forkhead boxes"""	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.555C>G	1.37:g.47904362C>G	ENSP00000335493:p.Phe185Leu						p.F185L	NM_004474	NP_004465	O60548	FOXD2_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	2674	+			185			Fork-head.		Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	37	c.555C>G	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589428	0.66105	.	.	ENSG00000186564	ENST00000334793	D	0.99014	-5.33	4.2	3.29	0.37713	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	U	0.000000	D	0.99456	0.9807	H	0.97051	3.93	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98773	1.0729	10	0.87932	D	0	.	10.7613	0.46266	0.0:0.903:0.0:0.097	.	185	O60548	FOXD2_HUMAN	L	185	ENSP00000335493:F185L	ENSP00000335493:F185L	F	+	3	2	FOXD2	47676949	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	2.702000	0.47102	0.739000	0.32628	-0.436000	0.05848	TTC		0.637	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1		NM_004474		28	81	0	0	0	1	0	28	81		
INADL	10207	broad.mit.edu	37	1	62263049	62263049	+	Nonsense_Mutation	SNP	C	C	T	rs117405402	byFrequency	TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:62263049C>T	ENST00000371158.2	+	11	1465	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	INADL_ENST00000316485.6_Nonsense_Mutation_p.R451*	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	451	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AACCCTAGTTCGAAGGAAGAC	0.448																																						uc001dab.2		NaN																	0				ovary(3)|skin(1)	4						c.(1351-1353)CGA>TGA		InaD-like							217.0	193.0	201.0					1																	62263049		2203	4300	6503	SO:0001587	stop_gained	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62263049C>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1351C>T	1.37:g.62263049C>T	ENSP00000360200:p.Arg451*					INADL_uc009waf.1_Nonsense_Mutation_p.R451*|INADL_uc001daa.2_Nonsense_Mutation_p.R451*|INADL_uc001dad.3_Nonsense_Mutation_p.R148*	p.R451*	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			11	1465	+			451			PDZ 3.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Nonsense_Mutation	SNP	ENST00000371158.2	37	c.1351C>T	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	35	5.452948	0.96223	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	.	.	.	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9505	0.47325	0.2908:0.7092:0.0:0.0	.	.	.	.	X	451	.	ENSP00000255202:R451X	R	+	1	2	INADL	62035637	0.966000	0.33281	0.937000	0.37676	0.027000	0.11550	1.916000	0.39986	2.582000	0.87167	0.591000	0.81541	CGA		0.448	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2		NM_170605		33	84	0	0	0	1	0	33	84		
PDE4B	5142	broad.mit.edu	37	1	66834533	66834533	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:66834533C>T	ENST00000329654.4	+	16	1913	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	PDE4B_ENST00000480109.2_Missense_Mutation_p.R343W|PDE4B_ENST00000371049.3_Missense_Mutation_p.R576W|PDE4B_ENST00000423207.2_Missense_Mutation_p.R561W|PDE4B_ENST00000371045.5_Missense_Mutation_p.R404W	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	576					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	GGAATTGTATCGGCAATGGAC	0.463																																						uc001dcn.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1726-1728)CGG>TGG		phosphodiesterase 4B isoform 1	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						114.0	105.0	108.0					1																	66834533		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66834533C>T	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1726C>T	1.37:g.66834533C>T	ENSP00000332116:p.Arg576Trp					PDE4B_uc009war.2_Missense_Mutation_p.R484W|PDE4B_uc001dco.2_Missense_Mutation_p.R576W|PDE4B_uc001dcp.2_Missense_Mutation_p.R561W|PDE4B_uc001dcq.2_Missense_Mutation_p.R404W|PDE4B_uc009was.2_Missense_Mutation_p.R343W	p.R576W	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN			16	1917	+			576					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.1726C>T	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002118	0.74932	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	4.44	4.44	0.53790	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.964;0.986;0.989;0.989;0.992	D	0.90764	0.4667	10	0.87932	D	0	.	12.3382	0.55079	0.1691:0.8309:0.0:0.0	.	343;561;446;566;576	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	W	576;576;576;561;404;343	ENSP00000332116:R576W;ENSP00000342637:R576W;ENSP00000360088:R576W;ENSP00000392947:R561W;ENSP00000360084:R404W;ENSP00000432592:R343W	ENSP00000332116:R576W	R	+	1	2	PDE4B	66607121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.764000	0.47613	2.451000	0.82905	0.563000	0.77884	CGG		0.463	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3		NM_002600		16	70	0	0	0	1	0	16	70		
SERBP1	26135	broad.mit.edu	37	1	67890585	67890585	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:67890585G>A	ENST00000370995.2	-	4	766	c.681C>T	c.(679-681)gtC>gtT	p.V227V	SERBP1_ENST00000370994.4_Silent_p.V221V|SERBP1_ENST00000361219.6_Silent_p.V227V|SERBP1_ENST00000484880.1_5'UTR|SERBP1_ENST00000370990.5_Silent_p.V221V			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	227					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						ATTCGTCTTTGACAGTTCCCC	0.368																																						uc001ddv.2		NaN																	0				skin(1)	1						c.(679-681)GTC>GTT		SERPINE1 mRNA binding protein 1 isoform 1							81.0	78.0	79.0					1																	67890585		2203	4300	6503	SO:0001819	synonymous_variant	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67890585G>A	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.681C>T	1.37:g.67890585G>A						SERBP1_uc001ddx.2_Silent_p.V221V|SERBP1_uc001ddy.2_Silent_p.V221V|SERBP1_uc001ddw.2_Silent_p.V227V	p.V227V	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN			4	821	-			227					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Silent	SNP	ENST00000370995.2	37	c.681C>T	CCDS30746.1																																																																																				0.368	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2		NM_001018067		34	59	0	0	0	1	0	34	59		
LRRC7	57554	broad.mit.edu	37	1	70504079	70504079	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:70504079C>T	ENST00000035383.5	+	19	2488	c.2458C>T	c.(2458-2460)Ccc>Tcc	p.P820S	LRRC7_ENST00000310961.5_Missense_Mutation_p.P825S|LRRC7_ENST00000415775.2_Missense_Mutation_p.P104S	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	820						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGTTGGTGTTCCCCTGGAACT	0.493																																						uc001dep.2		NaN																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(2458-2460)CCC>TCC		leucine rich repeat containing 7							97.0	93.0	94.0					1																	70504079		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504079C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2458C>T	1.37:g.70504079C>T	ENSP00000035383:p.Pro820Ser					LRRC7_uc009wbg.2_Missense_Mutation_p.P104S|LRRC7_uc001deq.2_Missense_Mutation_p.P61S	p.P820S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	2488	+			820					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2458C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.732912	0.69189	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.61742	0.08;0.2;1.32	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	T	0.60561	-0.7239	10	0.30854	T	0.27	.	18.4553	0.90718	0.0:1.0:0.0:0.0	.	104;820;820	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	S	825;820;104;643	ENSP00000309245:P825S;ENSP00000035383:P820S;ENSP00000394867:P104S	ENSP00000035383:P820S	P	+	1	0	LRRC7	70276667	1.000000	0.71417	0.989000	0.46669	0.805000	0.45488	7.384000	0.79751	2.614000	0.88457	0.467000	0.42956	CCC		0.493	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1		NM_020794		29	59	0	0	0	1	0	29	59		
GBP5	115362	broad.mit.edu	37	1	89735197	89735197	+	Silent	SNP	G	G	A	rs372467199		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:89735197G>A	ENST00000370459.3	-	2	169	c.42C>T	c.(40-42)atC>atT	p.I14I	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Silent_p.I14I			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	14	GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.I14I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TAAAGTTCTCGATGAGGCACA	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		6408	0.0		0.0	False		,,,				2504	0.0					uc001dnc.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(40-42)ATC>ATT		guanylate-binding protein 5		G	,	2,4404	4.2+/-10.8	0,2,2201	224.0	211.0	216.0		42,42	-1.4	1.0	1		216	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GBP5	NM_001134486.2,NM_052942.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	14/587,14/587	89735197	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89735197G>A	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.42C>T	1.37:g.89735197G>A						GBP5_uc001dnd.2_Silent_p.I14I|GBP5_uc001dne.1_Silent_p.I14I	p.I14I	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	3	579	-			14					B2RCE1|Q86TM5	Silent	SNP	ENST00000370459.3	37	c.42C>T	CCDS722.1																																																																																				0.478	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1		NM_052942		44	132	0	0	0	1	0	44	132		
BRDT	676	broad.mit.edu	37	1	92459724	92459724	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:92459724C>T	ENST00000362005.3	+	16	2618	c.2200C>T	c.(2200-2202)Cac>Tac	p.H734Y	BRDT_ENST00000394530.3_Missense_Mutation_p.H688Y|BRDT_ENST00000399546.2_Missense_Mutation_p.H734Y|BRDT_ENST00000370389.2_Missense_Mutation_p.H661Y|BRDT_ENST00000402388.1_Missense_Mutation_p.H734Y	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	734					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCCACCAAATCACCACCAATT	0.363																																						uc001dok.3		NaN																	0				stomach(2)|ovary(1)|lung(1)	4						c.(2200-2202)CAC>TAC		testis-specific bromodomain protein							179.0	155.0	163.0					1																	92459724		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92459724C>T	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2200C>T	1.37:g.92459724C>T	ENSP00000354568:p.His734Tyr					BRDT_uc001dol.3_Missense_Mutation_p.H734Y|BRDT_uc010osz.1_Missense_Mutation_p.H738Y|BRDT_uc009wdf.2_Missense_Mutation_p.H661Y|BRDT_uc010ota.1_Missense_Mutation_p.H688Y|BRDT_uc010otb.1_Missense_Mutation_p.H688Y|BRDT_uc001dom.3_Missense_Mutation_p.H734Y	p.H734Y	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	15	2549	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	734					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.2200C>T	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326576	0.24080	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	4.97	4.97	0.65823	.	0.599517	0.15842	N	0.241965	T	0.29223	0.0727	L	0.45581	1.43	0.09310	N	1	P;P;P;P	0.50943	0.94;0.94;0.896;0.94	B;B;B;B	0.41571	0.36;0.36;0.206;0.36	T	0.14699	-1.0463	10	0.54805	T	0.06	-0.8888	13.9292	0.63983	0.0:1.0:0.0:0.0	.	688;688;738;734	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	Y	734;661;734;688;734	ENSP00000354568:H734Y;ENSP00000359416:H661Y;ENSP00000387822:H734Y;ENSP00000378038:H688Y;ENSP00000384051:H734Y	ENSP00000354568:H734Y	H	+	1	0	BRDT	92232312	0.421000	0.25465	0.020000	0.16555	0.024000	0.10985	3.068000	0.50018	2.752000	0.94435	0.655000	0.94253	CAC		0.363	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2		NM_207189		18	83	0	0	0	1	0	18	83		
DNTTIP2	30836	broad.mit.edu	37	1	94343201	94343201	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:94343201G>A	ENST00000436063.2	-	2	347	c.290C>T	c.(289-291)tCt>tTt	p.S97F	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		ATGGTGCTCAGACACAGAATA	0.458																																						uc001dqf.2		NaN																	0					0						c.(289-291)TCT>TTT		deoxynucleotidyltransferase, terminal,							96.0	90.0	92.0					1																	94343201		1920	4127	6047	SO:0001583	missense	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94343201G>A	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.290C>T	1.37:g.94343201G>A	ENSP00000411010:p.Ser97Phe					DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Intron	p.S97F	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	328	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	97					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	c.290C>T	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387996	0.61956	.	.	ENSG00000067334	ENST00000436063;ENST00000528680	T	0.16897	2.31	4.91	3.72	0.42706	.	1.888240	0.02941	N	0.140497	T	0.09949	0.0244	M	0.64997	1.995	0.22796	N	0.998726	B	0.20368	0.044	B	0.20384	0.029	T	0.32587	-0.9901	10	0.62326	D	0.03	.	9.4161	0.38523	0.1238:0.0:0.8762:0.0	.	97	Q5QJE6	TDIF2_HUMAN	F	97;104	ENSP00000411010:S97F	ENSP00000352137:S97F	S	-	2	0	DNTTIP2	94115789	0.914000	0.31030	1.000000	0.80357	0.996000	0.88848	1.560000	0.36331	0.954000	0.37851	0.644000	0.83932	TCT		0.458	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2		NM_014597		11	42	0	0	0	1	0	11	42		
AGL	178	broad.mit.edu	37	1	100358047	100358047	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:100358047G>T	ENST00000294724.4	+	24	3621	c.3143G>T	c.(3142-3144)tGt>tTt	p.C1048F	AGL_ENST00000361522.4_Missense_Mutation_p.C1031F|AGL_ENST00000361915.3_Missense_Mutation_p.C1048F|AGL_ENST00000370163.3_Missense_Mutation_p.C1048F|AGL_ENST00000370165.3_Missense_Mutation_p.C1048F|AGL_ENST00000370161.2_Missense_Mutation_p.C1032F|AGL_ENST00000361302.3_Missense_Mutation_p.C1032F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1048					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)		GTTCAACTGTGTGGAGTAGGA	0.368																																						uc001dsi.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3142-3144)TGT>TTT		amylo-1,6-glucosidase,							108.0	103.0	105.0					1																	100358047		2203	4300	6503	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.chr1:100358047G>T	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.3143G>T	1.37:g.100358047G>T	ENSP00000294724:p.Cys1048Phe					AGL_uc001dsj.1_Missense_Mutation_p.C1048F|AGL_uc001dsk.1_Missense_Mutation_p.C1048F|AGL_uc001dsl.1_Missense_Mutation_p.C1048F|AGL_uc001dsm.1_Missense_Mutation_p.C1032F|AGL_uc001dsn.1_Missense_Mutation_p.C1031F	p.C1048F	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)	24	3543	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1048			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.3143G>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703415	0.68501	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	M	0.62723	1.935	0.80722	D	1	D;D;D	0.58970	0.961;0.961;0.984	P;P;D	0.68483	0.817;0.817;0.958	T	0.74325	-0.3702	10	0.19147	T	0.46	.	19.1022	0.93277	0.0:0.0:1.0:0.0	.	1031;1032;1048	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	F	1048;1048;1048;1048;1032;1032;1031	ENSP00000355106:C1048F;ENSP00000359184:C1048F;ENSP00000359182:C1048F;ENSP00000294724:C1048F;ENSP00000354971:C1032F;ENSP00000359180:C1032F;ENSP00000354635:C1031F	ENSP00000294724:C1048F	C	+	2	0	AGL	100130635	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.145000	0.94634	2.553000	0.86117	0.573000	0.79308	TGT		0.368	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1		NM_000028		15	40	1	0	2.32078e-09	1	2.41399e-09	15	40		
TRMT13	54482	broad.mit.edu	37	1	100614274	100614274	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:100614274C>T	ENST00000370141.2	+	11	1350	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	448					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AGAAGGGATTCAGTCCTGCTT	0.383																																						uc001dsv.2		NaN																	0				ovary(1)	1						c.(1342-1344)TTC>TTT		coiled-coil domain containing 76							96.0	103.0	101.0					1																	100614274		2203	4300	6503	SO:0001819	synonymous_variant	54482				tRNA processing		metal ion binding|methyltransferase activity	g.chr1:100614274C>T	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.1344C>T	1.37:g.100614274C>T						CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_3'UTR	p.F448F	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)	11	1363	+		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	448					Q5VVL0|Q9NW65	Silent	SNP	ENST00000370141.2	37	c.1344C>T	CCDS765.1																																																																																				0.383	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1		NM_019083		16	63	0	0	0	1	0	16	63		
EXTL2	2135	broad.mit.edu	37	1	101343047	101343047	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:101343047C>T	ENST00000370114.3	-	3	1854	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	EXTL2_ENST00000370113.3_Missense_Mutation_p.E140K|EXTL2_ENST00000535414.1_Missense_Mutation_p.E127K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	140					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		GTTTCCAGTTCAGGAAAGACC	0.488																																						uc001dtk.1		NaN																	0				skin(1)	1						c.(418-420)GAA>AAA		exostoses-like 2							77.0	75.0	76.0					1																	101343047		2203	4299	6502	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101343047C>T	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.418G>A	1.37:g.101343047C>T	ENSP00000359132:p.Glu140Lys					EXTL2_uc001dtl.1_Missense_Mutation_p.E140K|EXTL2_uc010ouk.1_Missense_Mutation_p.E127K|EXTL2_uc001dtm.1_Missense_Mutation_p.E140K	p.E140K	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	3	755	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	140			Lumenal (Potential).		B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.418G>A	CCDS775.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385504	0.95967	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.61	5.61	0.85477	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.044123	0.85682	D	0.000000	D	0.84642	0.5517	M	0.75615	2.305	0.80722	D	1	P;D	0.54772	0.944;0.968	P;P	0.57720	0.695;0.826	D	0.85413	0.1138	10	0.72032	D	0.01	-32.8733	20.0018	0.97417	0.0:1.0:0.0:0.0	.	140;140	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	K	140;140;127;148	ENSP00000359132:E140K;ENSP00000359131:E140K;ENSP00000444385:E127K;ENSP00000403363:E148K	ENSP00000359131:E140K	E	-	1	0	EXTL2	101115635	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.445000	0.80570	2.793000	0.96121	0.655000	0.94253	GAA		0.488	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1		NM_001439		13	48	0	0	0	1	0	13	48		
KCNA3	3738	broad.mit.edu	37	1	111216259	111216259	+	Silent	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:111216259C>G	ENST00000369769.2	-	1	1396	c.1173G>C	c.(1171-1173)ctG>ctC	p.L391L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	391					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TGGACGCCTTCAGCGTTTGCC	0.587																																						uc001dzv.1		NaN																	0				ovary(4)|pancreas(1)	5						c.(1171-1173)CTG>CTC		potassium voltage-gated channel, shaker-related							80.0	80.0	80.0					1																	111216259		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216259C>G	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1173G>C	1.37:g.111216259C>G							p.L391L	NM_002232	NP_002223	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1397	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	391					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.1173G>C	CCDS828.2																																																																																				0.587	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1		NM_002232		28	83	0	0	0	1	0	28	83		
PTPN22	26191	broad.mit.edu	37	1	114380755	114380755	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:114380755C>T	ENST00000359785.5	-	13	1402	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	PTPN22_ENST00000525799.1_Missense_Mutation_p.E296K|PTPN22_ENST00000528414.1_Missense_Mutation_p.E368K|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.E423K|PTPN22_ENST00000538253.1_Missense_Mutation_p.E179K	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	423					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAACATCCCTCAAACAAAAGA	0.388																																						uc001eds.2		NaN																	0				kidney(2)|lung(1)|skin(1)	4						c.(1267-1269)GAG>AAG		protein tyrosine phosphatase, non-receptor type							73.0	77.0	76.0					1																	114380755		2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114380755C>T	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1267G>A	1.37:g.114380755C>T	ENSP00000352833:p.Glu423Lys					PTPN22_uc009wgq.2_Missense_Mutation_p.E368K|PTPN22_uc010owo.1_Missense_Mutation_p.E179K|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.E423K|PTPN22_uc009wgs.2_Missense_Mutation_p.E296K|PTPN22_uc001edu.2_Missense_Mutation_p.E423K	p.E423K	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	1397	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	423					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.1267G>A	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	6.771	0.511153	0.12883	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.72	2.83	0.33086	.	0.721190	0.13357	N	0.393949	T	0.04952	0.0133	L	0.29908	0.895	0.09310	N	1	P;B;B;B;B;B	0.35226	0.491;0.007;0.016;0.001;0.016;0.004	B;B;B;B;B;B	0.31869	0.137;0.003;0.008;0.001;0.017;0.004	T	0.34875	-0.9811	10	0.02654	T	1	.	6.4795	0.22055	0.0:0.6865:0.1515:0.162	.	179;296;423;368;423;423	F5H2S8;E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	K	423;368;179;423;296;423	ENSP00000352833:E423K;ENSP00000435176:E368K;ENSP00000439372:E179K;ENSP00000388229:E423K;ENSP00000432674:E296K	ENSP00000346621:E423K	E	-	1	0	PTPN22	114182278	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.270000	0.18607	0.759000	0.33084	-0.176000	0.13171	GAG		0.388	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1		NM_015967		19	51	0	0	0	1	0	19	51		
HSD3B2	3284	broad.mit.edu	37	1	119962079	119962079	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:119962079G>C	ENST00000543831.1	+	3	430	c.181G>C	c.(181-183)Gac>Cac	p.D61H	HSD3B2_ENST00000471656.1_3'UTR|HSD3B2_ENST00000369416.3_Missense_Mutation_p.D61H	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	61					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	ACTTGAAGGAGACATTCTGGA	0.493																																						uc001ehs.2		NaN																	0				ovary(2)	2						c.(181-183)GAC>CAC		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)						98.0	81.0	87.0					1																	119962079		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119962079G>C	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.181G>C	1.37:g.119962079G>C	ENSP00000445122:p.Asp61His					HSD3B2_uc001eht.2_Missense_Mutation_p.D61H|HSD3B2_uc001ehu.2_Missense_Mutation_p.D61H	p.D61H	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	2	954	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	61					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.181G>C	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	15.75	2.927064	0.52759	.	.	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.96232	-3.95;-3.95;-3.95	3.93	3.93	0.45458	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98795	0.9594	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99174	1.0865	9	.	.	.	-9.7471	13.5239	0.61584	0.0:0.0:1.0:0.0	.	61;61	P26439-2;P26439	.;3BHS2_HUMAN	H	61	ENSP00000445122:D61H;ENSP00000388292:D61H;ENSP00000358424:D61H	.	D	+	1	0	HSD3B2	119763602	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	8.792000	0.91856	1.943000	0.56356	0.298000	0.19748	GAC		0.493	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1		NM_000198		11	35	0	0	0	1	0	11	35		
HSD3B2	3284	broad.mit.edu	37	1	119965133	119965133	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:119965133C>G	ENST00000543831.1	+	4	1258	c.1009C>G	c.(1009-1011)Ctg>Gtg	p.L337V	HSD3B2_ENST00000369416.3_Missense_Mutation_p.L337V	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	337					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	TCAGCGAGATCTGGCGTATAA	0.512																																						uc001ehs.2		NaN																	0				ovary(2)	2						c.(1009-1011)CTG>GTG		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)						74.0	69.0	71.0					1																	119965133		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119965133C>G	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.1009C>G	1.37:g.119965133C>G	ENSP00000445122:p.Leu337Val					HSD3B2_uc001eht.2_Missense_Mutation_p.L337V|HSD3B2_uc001ehu.2_Intron	p.L337V	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	3	1782	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	337					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.1009C>G	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	14.96	2.690790	0.48097	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	D;D	0.93019	-3.15;-3.15	4.32	2.04	0.26737	.	0.354825	0.29239	N	0.012730	D	0.93419	0.7901	H	0.94423	3.535	0.33066	D	0.534749	D	0.58268	0.982	P	0.52424	0.698	D	0.90824	0.4711	9	.	.	.	-8.5265	2.6079	0.04883	0.509:0.307:0.0:0.184	.	337	P26439	3BHS2_HUMAN	V	337	ENSP00000445122:L337V;ENSP00000358424:L337V	.	L	+	1	2	HSD3B2	119766656	0.983000	0.35010	0.357000	0.25798	0.799000	0.45148	1.674000	0.37544	0.818000	0.34468	0.298000	0.19748	CTG		0.512	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1		NM_000198		14	47	0	0	0	1	0	14	47		
HSD3B1	3283	broad.mit.edu	37	1	120056980	120056980	+	Silent	SNP	C	C	T	rs371247441		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:120056980C>T	ENST00000369413.3	+	4	979	c.834C>T	c.(832-834)ctC>ctT	p.L278L	HSD3B1_ENST00000235547.6_Silent_p.L280L|HSD3B1_ENST00000528909.1_Silent_p.L278L			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	278					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	AGTTCGGCCTCCGCCTTGATT	0.473																																						uc001ehv.1		NaN																	0				ovary(2)	2						c.(832-834)CTC>CTT		3 beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)|Trilostane(DB01108)	C		0,4406		0,0,2203	92.0	96.0	95.0		834	3.3	0.1	1		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HSD3B1	NM_000862.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		278/374	120056980	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120056980C>T	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.834C>T	1.37:g.120056980C>T						HSD3B1_uc001ehw.2_Silent_p.L280L	p.L278L	NM_000862	NP_000853	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	979	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	278					A8K691|Q14545|Q8IV65	Silent	SNP	ENST00000369413.3	37	c.834C>T	CCDS903.1																																																																																				0.473	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3		NM_000862		8	152	0	0	0	1	0	8	152		
ADAM30	11085	broad.mit.edu	37	1	120438233	120438233	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:120438233C>T	ENST00000369400.1	-	1	885	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	243	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)		ATACGAACATCTTGAAAGTAG	0.368																																						uc001eij.2		NaN																	0				ovary(2)|lung(1)	3						c.(727-729)GAT>AAT		ADAM metallopeptidase domain 30 preproprotein							101.0	103.0	103.0					1																	120438233		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438233C>T	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.727G>A	1.37:g.120438233C>T	ENSP00000358407:p.Asp243Asn						p.D243N	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	881	-	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)	243			Peptidase M12B.|Extracellular (Potential).		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.727G>A	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880139	0.33162	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.10288	2.89	4.67	1.66	0.24008	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	1.268730	0.05803	N	0.612624	T	0.05502	0.0145	L	0.43152	1.355	0.09310	N	1	B	0.31077	0.307	P	0.45538	0.484	T	0.50841	-0.8780	10	0.20519	T	0.43	.	4.1621	0.10289	0.0:0.5967:0.1939:0.2095	.	243	Q9UKF2	ADA30_HUMAN	N	243	ENSP00000358407:D243N	ENSP00000358407:D243N	D	-	1	0	ADAM30	120239756	0.000000	0.05858	0.007000	0.13788	0.438000	0.31896	0.123000	0.15708	1.189000	0.43028	0.563000	0.77884	GAT		0.368	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1		NM_021794		23	70	0	0	0	1	0	23	70		
PDE4DIP	9659	broad.mit.edu	37	1	144857639	144857639	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:144857639C>G	ENST00000369354.3	-	39	6604	c.6415G>C	c.(6415-6417)Gaa>Caa	p.E2139Q	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E2275Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E2139Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E2033Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2224Q|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2139					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGGGCGTTTCTGAGCCAGGA	0.488			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(6415-6417)GAA>CAA		phosphodiesterase 4D interacting protein isoform							247.0	273.0	264.0					1																	144857639		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144857639C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6415G>C	1.37:g.144857639C>G	ENSP00000358360:p.Glu2139Gln					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E2033Q|PDE4DIP_uc001elv.3_Missense_Mutation_p.E1146Q	p.E2139Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	39	6706	-			2139					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6415G>C	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.26|14.26	2.483505|2.483505	0.44147|0.44147	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.01804|.	4.63;4.69;4.68;4.73;4.7|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|.	.|.	.|.	.|.	T|T	0.64193|0.64193	0.2576|0.2576	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	P;B|.	0.48503|.	0.911;0.004|.	P;B|.	0.46917|.	0.531;0.008|.	T|T	0.63475|0.63475	-0.6629|-0.6629	9|5	0.39692|.	T|.	0.17|.	.|.	15.9054|15.9054	0.79423|0.79423	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2033;2139|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	Q|H	2033;2139;2139;2224;2275|215	ENSP00000327209:E2033Q;ENSP00000358360:E2139Q;ENSP00000358363:E2139Q;ENSP00000435654:E2224Q;ENSP00000358366:E2275Q|.	ENSP00000327209:E2033Q|.	E|Q	-|-	1|3	0|2	PDE4DIP|PDE4DIP	143568996|143568996	0.934000|0.934000	0.31675|0.31675	0.040000|0.040000	0.18447|0.18447	0.407000|0.407000	0.30961|0.30961	1.613000|1.613000	0.36900|0.36900	2.428000|2.428000	0.82296|0.82296	0.555000|0.555000	0.69702|0.69702	GAA|CAG		0.488	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		12	254	0	0	0	1	0	12	254		
TXNIP	10628	broad.mit.edu	37	1	145439622	145439622	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:145439622G>A	ENST00000369317.4	+	2	614	c.280G>A	c.(280-282)Gga>Aga	p.G94R	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	94					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)					CATGAGACCTGGAAACAAATA	0.398																																						uc001enn.3		NaN																	0				ovary(2)	2						c.(280-282)GGA>AGA		thioredoxin interacting protein							152.0	148.0	150.0					1																	145439622		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145439622G>A	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.280G>A	1.37:g.145439622G>A	ENSP00000358323:p.Gly94Arg					NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.G39R	p.G94R	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			2	621	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		94					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.280G>A	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134103	0.77662	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.46819	0.86;0.86	4.66	4.66	0.58398	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67998	0.2953	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.973;1.0	T	0.70498	-0.4855	10	0.38643	T	0.18	0.0131	15.4326	0.75112	0.0:0.0:1.0:0.0	.	39;94	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	R	94;39	ENSP00000358323:G94R;ENSP00000396322:G39R	ENSP00000358323:G94R	G	+	1	0	TXNIP	144150979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.785000	0.91822	2.586000	0.87340	0.563000	0.77884	GGA		0.398	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1		NM_006472		33	122	0	0	0	1	0	33	122		
ANKRD35	148741	broad.mit.edu	37	1	145567755	145567755	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:145567755G>A	ENST00000355594.4	+	13	3092	c.3005G>A	c.(3004-3006)tGa>tAa	p.*1002*		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	0										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAAGAGGAGTGAGGCAGCCTC	0.478																																					Melanoma(9;127 754 22988 51047)	uc001eob.1		NaN																	0				ovary(4)|skin(1)	5						c.(3004-3006)TGA>TAA		ankyrin repeat domain 35							152.0	147.0	148.0					1																	145567755		2203	4300	6503	SO:0001819	synonymous_variant	148741							g.chr1:145567755G>A	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.3005G>A	1.37:g.145567755G>A						NBPF10_uc001emp.3_Intron	p.*1002*	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			13	3113	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		1002					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.3005G>A	CCDS919.1																																																																																				0.478	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1		NM_144698		39	117	0	0	0	1	0	39	117		
ECM1	1893	broad.mit.edu	37	1	150484937	150484937	+	Missense_Mutation	SNP	G	G	A	rs200366841		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:150484937G>A	ENST00000369047.4	+	8	1318	c.1193G>A	c.(1192-1194)cGt>cAt	p.R398H	ECM1_ENST00000346569.6_Missense_Mutation_p.R273H|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.R425H	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	398	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCTTTGCCCGTCGGGCTCCT	0.567																																					Melanoma(156;1696 2560 11093 19685)	uc001eus.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1192-1194)CGT>CAT		extracellular matrix protein 1 isoform 1							114.0	101.0	105.0					1																	150484937		2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150484937G>A	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1193G>A	1.37:g.150484937G>A	ENSP00000358043:p.Arg398His					ECM1_uc001eut.2_Missense_Mutation_p.R273H|ECM1_uc001euu.2_Missense_Mutation_p.R427H|ECM1_uc001euv.2_Missense_Mutation_p.R425H|ECM1_uc009wlu.2_Missense_Mutation_p.R158H	p.R398H	NM_004425	NP_004416	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		8	1392	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		398			2 X approximate repeats.|2.		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.1193G>A	CCDS953.1	.	.	.	.	.	.	.	.	.	.	G	3.993	-0.004097	0.07773	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.76839	-1.05;-1.05;-1.05	4.17	1.2	0.21068	.	0.945677	0.08830	N	0.887489	T	0.39860	0.1094	N	0.17082	0.46	0.09310	N	1	B;B;B;B	0.21606	0.058;0.018;0.012;0.01	B;B;B;B	0.18561	0.022;0.022;0.01;0.017	T	0.32322	-0.9911	10	0.48119	T	0.1	-1.2022	5.9127	0.19037	0.3447:0.0:0.6553:0.0	.	425;398;273;398	Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;ECM1_HUMAN	H	425;398;273	ENSP00000358045:R425H;ENSP00000358043:R398H;ENSP00000271630:R273H	ENSP00000271630:R273H	R	+	2	0	ECM1	148751561	0.001000	0.12720	0.017000	0.16124	0.266000	0.26442	-0.173000	0.09854	0.134000	0.18681	0.462000	0.41574	CGT		0.567	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2		NM_004425		23	104	0	0	0	1	0	23	104		
FAM63A	55793	broad.mit.edu	37	1	150972348	150972348	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:150972348G>A	ENST00000361936.5	-	7	1782	c.828C>T	c.(826-828)ctC>ctT	p.L276L	FAM63A_ENST00000493834.2_Silent_p.L181L|FAM63A_ENST00000361738.6_Silent_p.L324L|FAM63A_ENST00000312210.5_Silent_p.L134L|FAM63A_ENST00000470877.1_5'UTR	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	276						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTCTGTCACGAGGTTGGTGT	0.493																																						uc001ewf.2		NaN																	0				ovary(1)	1						c.(826-828)CTC>CTT		hypothetical protein LOC55793 isoform 1							164.0	117.0	133.0					1																	150972348		2203	4300	6503	SO:0001819	synonymous_variant	55793						protein binding	g.chr1:150972348G>A	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.828C>T	1.37:g.150972348G>A						FAM63A_uc001ewc.2_Silent_p.L134L|FAM63A_uc010pcm.1_Silent_p.L181L|FAM63A_uc001ewd.2_Silent_p.L134L|FAM63A_uc001ewe.2_Silent_p.L110L|FAM63A_uc010pcn.1_Silent_p.L324L|FAM63A_uc001ewg.2_Silent_p.L276L	p.L276L	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	2512	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		276					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Silent	SNP	ENST00000361936.5	37	c.828C>T	CCDS976.1																																																																																				0.493	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1		NM_018379		8	39	0	0	0	1	0	8	39		
MTX1	4580	broad.mit.edu	37	1	155181948	155181948	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:155181948C>T	ENST00000368376.3	+	4	815	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	MTX1_ENST00000316721.4_Intron|GBAP1_ENST00000486869.1_RNA|MTX1_ENST00000609421.1_Missense_Mutation_p.R88W|RP11-263K19.6_ENST00000455788.1_RNA|MTX1_ENST00000495589.1_3'UTR	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	237					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTGTCAGCTCGGCAAGGGGC	0.577																																						uc001fjb.2		NaN																	0				skin(1)	1						c.(709-711)CGG>TGG		metaxin 1 isoform 1							82.0	73.0	76.0					1																	155181948		2203	4300	6503	SO:0001583	missense	4580				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding	g.chr1:155181948C>T		CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708	ENST00000368376.3:c.709C>T	1.37:g.155181948C>T	ENSP00000357360:p.Arg237Trp					RAG1AP1_uc010pey.1_Intron|THBS3_uc001fja.2_5'Flank|THBS3_uc009wqj.1_5'Flank|MTX1_uc001fjc.2_Intron	p.R237W	NM_002455	NP_002446	Q13505	MTX1_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	815	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		237					B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Missense_Mutation	SNP	ENST00000368376.3	37	c.709C>T	CCDS1100.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.28|13.28	2.190244|2.190244	0.38707|0.38707	.|.	.|.	ENSG00000173171|ENSG00000173171	ENST00000368376|ENST00000424959	T|.	0.32515|.	1.45|.	4.8|4.8	3.88|3.88	0.44766|0.44766	.|.	0.062453|.	0.64402|.	D|.	0.000005|.	T|T	0.32704|0.32704	0.0838|0.0838	L|L	0.28192|0.28192	0.835|0.835	0.80722|0.80722	D|D	1|1	B|.	0.31054|.	0.306|.	B|.	0.16722|.	0.016|.	T|T	0.12889|0.12889	-1.0530|-1.0530	10|5	0.59425|.	D|.	0.04|.	-13.4447|-13.4447	10.2216|10.2216	0.43201|0.43201	0.3608:0.6391:0.0:0.0|0.3608:0.6391:0.0:0.0	.|.	237|.	Q13505|.	MTX1_HUMAN|.	W|L	237|99	ENSP00000357360:R237W|.	ENSP00000357360:R237W|.	R|S	+|+	1|2	2|0	MTX1|MTX1	153448572|153448572	0.134000|0.134000	0.22483|0.22483	0.992000|0.992000	0.48379|0.48379	0.979000|0.979000	0.70002|0.70002	3.302000|3.302000	0.51849|0.51849	0.981000|0.981000	0.38548|0.38548	-0.309000|-0.309000	0.09137|0.09137	CGG|TCG		0.577	MTX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086844.1		NM_198883		7	80	0	0	0	1	0	7	80		
ASH1L	55870	broad.mit.edu	37	1	155340407	155340407	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:155340407C>T	ENST00000368346.3	-	12	7228	c.6589G>A	c.(6589-6591)Gac>Aac	p.D2197N	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2192N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2197	Catalytic domain.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAGTAGTGGTCACTGTGATTA	0.408																																						uc009wqq.2		NaN																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(6589-6591)GAC>AAC		absent, small, or homeotic 1-like							154.0	133.0	140.0					1																	155340407		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155340407C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6589G>A	1.37:g.155340407C>T	ENSP00000357330:p.Asp2197Asn					RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.D2192N	p.D2197N	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		12	7069	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2197			SET.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.6589G>A		.	.	.	.	.	.	.	.	.	.	C	19.88	3.909479	0.72868	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.81499	-1.5;-1.5	4.87	4.87	0.63330	SET domain (3);	0.047749	0.85682	D	0.000000	T	0.68026	0.2956	N	0.05199	-0.095	0.80722	D	1	D;D	0.62365	0.991;0.989	P;P	0.62885	0.908;0.851	T	0.68311	-0.5442	10	0.12103	T	0.63	.	17.8022	0.88591	0.0:1.0:0.0:0.0	.	2197;2192	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	N	2197;2192	ENSP00000357330:D2197N;ENSP00000376204:D2192N	ENSP00000357330:D2197N	D	-	1	0	ASH1L	153607031	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.548000	0.85928	0.650000	0.86243	GAC		0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489		21	95	0	0	0	1	0	21	95		
MSTO1	55154	broad.mit.edu	37	1	155582954	155582954	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:155582954G>A	ENST00000245564.2	+	11	1237	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Missense_Mutation_p.E370K|MSTO1_ENST00000538143.1_Intron|RP11-29H23.4_ENST00000456382.2_RNA	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	405					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					TGCATGTGGGGAGCCTTCTGG	0.567																																						uc001fky.2		NaN																	0					0						c.(1213-1215)GAG>AAG		misato							73.0	74.0	74.0					1																	155582954		2203	4298	6501	SO:0001583	missense	55154				mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		g.chr1:155582954G>A	BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.1213G>A	1.37:g.155582954G>A	ENSP00000245564:p.Glu405Lys					MSTO1_uc001fkw.2_Missense_Mutation_p.E405K|MSTO1_uc001fkx.2_Missense_Mutation_p.E405K|MSTO1_uc001fla.2_Missense_Mutation_p.E224K|MSTO1_uc001fkz.2_Missense_Mutation_p.E336K|MSTO1_uc001fld.3_Missense_Mutation_p.E227K|MSTO1_uc009wqs.2_Missense_Mutation_p.E284K|MSTO1_uc010pgf.1_Missense_Mutation_p.E350K|MSTO1_uc001flb.2_Missense_Mutation_p.E274K|MSTO1_uc001flc.2_Missense_Mutation_p.E227K	p.E405K	NM_018116	NP_060586	Q9BUK6	MSTO1_HUMAN			11	1246	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		405					Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Missense_Mutation	SNP	ENST00000245564.2	37	c.1213G>A	CCDS1114.1	.	.	.	.	.	.	.	.	.	.	.	15.31	2.796521	0.50208	.	.	ENSG00000125459	ENST00000245564;ENST00000368341	T;T	0.45276	0.9;0.9	2.84	2.84	0.33178	.	0.183908	0.45867	D	0.000323	T	0.13457	0.0326	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B;B;P	0.35684	0.015;0.06;0.018;0.277;0.006;0.018;0.515	B;B;B;B;B;B;B	0.26310	0.014;0.021;0.017;0.033;0.013;0.012;0.068	T	0.05386	-1.0888	10	0.18276	T	0.48	.	13.7037	0.62624	0.0:0.0:1.0:0.0	.	350;405;370;227;405;405;405	B4DLS9;A8K3J5;Q9BUK6-7;Q9BUK6-5;Q9BUK6;Q9BUK6-2;Q9BUK6-3	.;.;.;.;MSTO1_HUMAN;.;.	K	405;370	ENSP00000245564:E405K;ENSP00000357325:E370K	ENSP00000245564:E405K	E	+	1	0	MSTO1	153849578	1.000000	0.71417	0.944000	0.38274	0.790000	0.44656	4.142000	0.58044	1.583000	0.49898	0.313000	0.20887	GAG		0.567	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1		NM_018116		19	84	0	0	0	1	0	19	84		
GON4L	54856	broad.mit.edu	37	1	155784175	155784175	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:155784175C>G	ENST00000368331.1	-	9	1275	c.1227G>C	c.(1225-1227)ttG>ttC	p.L409F	GON4L_ENST00000361040.5_Missense_Mutation_p.L409F|GON4L_ENST00000437809.1_Missense_Mutation_p.L409F|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.L409F	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	409					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAGACTGCCTCAATCTGGATT	0.393																																						uc001flz.2		NaN																	0				ovary(3)	3						c.(1225-1227)TTG>TTC		gon-4-like isoform a							180.0	169.0	173.0					1																	155784175		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155784175C>G	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1227G>C	1.37:g.155784175C>G	ENSP00000357315:p.Leu409Phe					GON4L_uc001fly.1_Missense_Mutation_p.L409F|GON4L_uc009wrh.1_Missense_Mutation_p.L409F|GON4L_uc001fma.1_Missense_Mutation_p.L409F|GON4L_uc001fmc.2_Missense_Mutation_p.L409F|GON4L_uc001fmd.3_Missense_Mutation_p.L409F|GON4L_uc009wri.2_5'UTR|GON4L_uc001fme.2_Missense_Mutation_p.L237F|GON4L_uc001fmf.2_Missense_Mutation_p.L103F	p.L409F	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			9	1324	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		409					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.1227G>C		.	.	.	.	.	.	.	.	.	.	C	19.13	3.766897	0.69878	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.13420	2.78;2.78;2.78;2.59	4.56	4.56	0.56223	.	0.526660	0.19104	N	0.122630	T	0.12135	0.0295	L	0.42245	1.32	0.28029	N	0.934202	P;D;D;D;D	0.76494	0.904;0.96;0.96;0.998;0.999	P;P;P;P;D	0.67548	0.448;0.59;0.59;0.897;0.952	T	0.09707	-1.0662	10	0.20046	T	0.44	.	8.781	0.34792	0.0:0.8981:0.0:0.1019	.	103;409;409;409;409	Q9H5U2;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	F	409	ENSP00000396117:L409F;ENSP00000357315:L409F;ENSP00000271883:L409F;ENSP00000354322:L409F	ENSP00000271883:L409F	L	-	3	2	GON4L	154050799	0.108000	0.22018	1.000000	0.80357	0.999000	0.98932	0.276000	0.18716	2.538000	0.85594	0.655000	0.94253	TTG		0.393	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_032292		24	107	0	0	0	1	0	24	107		
ETV3	2117	broad.mit.edu	37	1	157105486	157105486	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:157105486C>T	ENST00000368192.4	-	3	125	c.61G>A	c.(61-63)Gac>Aac	p.D21N	ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Missense_Mutation_p.D21N	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	21					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)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TAGGCCCAGTCAGGAAACTGA	0.507																																						uc001fqr.2		NaN																	0					0						c.(61-63)GAC>AAC		ets variant gene 3 isoform 1							113.0	108.0	110.0					1																	157105486		2203	4300	6503	SO:0001583	missense	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157105486C>T	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.61G>A	1.37:g.157105486C>T	ENSP00000357175:p.Asp21Asn					ETV3_uc001fqt.2_Missense_Mutation_p.D21N	p.D21N	NM_001145312	NP_001138784	P41162	ETV3_HUMAN			3	350	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	21					B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	ENST00000368192.4	37	c.61G>A	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.335538	0.60853	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	T;T	0.18174	2.3;2.23	5.32	5.32	0.75619	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.069862	0.64402	D	0.000020	T	0.11580	0.0282	L	0.27053	0.805	0.58432	D	0.999995	B;P	0.45768	0.074;0.866	B;P	0.46585	0.059;0.521	T	0.02560	-1.1141	10	0.48119	T	0.1	.	18.1187	0.89564	0.0:1.0:0.0:0.0	.	21;21	P41162-2;P41162	.;ETV3_HUMAN	N	21	ENSP00000357175:D21N;ENSP00000327316:D21N	ENSP00000327316:D21N	D	-	1	0	ETV3	155372110	1.000000	0.71417	0.650000	0.29550	0.982000	0.71751	7.397000	0.79903	2.647000	0.89833	0.655000	0.94253	GAC		0.507	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2		NM_005240		26	79	0	0	0	1	0	26	79		
SPTA1	6708	broad.mit.edu	37	1	158647509	158647509	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:158647509C>T	ENST00000368147.4	-	7	1108	c.928G>A	c.(928-930)Gag>Aag	p.E310K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	310					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGATTTCTCTCAAGTCCCTTG	0.453																																						uc001fst.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(928-930)GAG>AAG		spectrin, alpha, erythrocytic 1							89.0	83.0	85.0					1																	158647509		1965	4152	6117	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158647509C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.928G>A	1.37:g.158647509C>T	ENSP00000357129:p.Glu310Lys						p.E310K	NM_003126	NP_003117	P02549	SPTA1_HUMAN			7	1127	-	all_hematologic(112;0.0378)		310			Spectrin 4.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.928G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836058	0.71373	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.55588	0.51;0.51	4.58	3.67	0.42095	.	0.256762	0.20368	N	0.093717	T	0.50463	0.1617	M	0.80028	2.48	0.51012	D	0.999901	B	0.28850	0.225	B	0.41202	0.35	T	0.59873	-0.7372	10	0.66056	D	0.02	.	11.8152	0.52207	0.0:0.9132:0.0:0.0868	.	310	P02549	SPTA1_HUMAN	K	310	ENSP00000357130:E310K;ENSP00000357129:E310K	ENSP00000357129:E310K	E	-	1	0	SPTA1	156914133	1.000000	0.71417	0.895000	0.35142	0.987000	0.75469	4.335000	0.59298	1.268000	0.44264	0.655000	0.94253	GAG		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126		12	39	0	0	0	1	0	12	39		
ATP1A2	477	broad.mit.edu	37	1	160097482	160097482	+	Missense_Mutation	SNP	G	G	A	rs181618883		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:160097482G>A	ENST00000361216.3	+	8	978	c.889G>A	c.(889-891)Gct>Act	p.A297T	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A297T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	297					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CACAGGGGTCGCTGTATTCCT	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21398	0.0		0.0	False		,,,				2504	0.0					uc001fvc.2		NaN																	0				central_nervous_system(3)|ovary(2)|skin(2)	7						c.(889-891)GCT>ACT		Na+/K+ -ATPase alpha 2 subunit proprotein							147.0	135.0	139.0					1																	160097482		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160097482G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.889G>A	1.37:g.160097482G>A	ENSP00000354490:p.Ala297Thr					ATP1A2_uc001fvb.2_Missense_Mutation_p.A297T|ATP1A2_uc010piz.1_Missense_Mutation_p.A142T|ATP1A2_uc001fvd.2_Missense_Mutation_p.A33T|ATP1A2_uc009wtg.1_5'Flank	p.A297T	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		8	1021	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		297			Helical; (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.889G>A	CCDS1196.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	32	5.148394	0.94603	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233	D;D	0.91237	-2.81;-2.81	4.89	4.89	0.63831	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.94673	0.8282	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.70016	0.967;0.945;0.967	D	0.95277	0.8382	10	0.87932	D	0	.	17.1782	0.86846	0.0:0.0:1.0:0.0	.	142;197;297	B4DHD7;F5GXJ7;P50993	.;.;AT1A2_HUMAN	T	142;297;297	ENSP00000354490:A297T;ENSP00000376066:A297T	ENSP00000354490:A297T	A	+	1	0	ATP1A2	158364106	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	9.779000	0.99018	2.410000	0.81850	0.561000	0.74099	GCT		0.577	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2		NM_000702		36	141	0	0	0	1	0	36	141		
ADCY10	55811	broad.mit.edu	37	1	167798547	167798547	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:167798547C>T	ENST00000367851.4	-	26	3892	c.3708G>A	c.(3706-3708)atG>atA	p.M1236I	ADCY10_ENST00000545172.1_Missense_Mutation_p.M1083I|ADCY10_ENST00000367848.1_Missense_Mutation_p.M1144I	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1236					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCATTTGCATCATAACTGCCA	0.413																																						uc001ger.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(3706-3708)ATG>ATA		adenylate cyclase 10							89.0	91.0	90.0					1																	167798547		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167798547C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3708G>A	1.37:g.167798547C>T	ENSP00000356825:p.Met1236Ile					ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Missense_Mutation_p.M1144I|ADCY10_uc010plj.1_Missense_Mutation_p.M1083I	p.M1236I	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			26	4006	-			1236					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.3708G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526793	0.27299	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.26223	1.75;1.75;1.75	5.52	0.191	0.15130	.	0.837236	0.10940	N	0.617349	T	0.09247	0.0228	M	0.62723	1.935	0.29893	N	0.825012	B;B	0.14438	0.01;0.003	B;B	0.09377	0.004;0.002	T	0.19976	-1.0289	9	0.42905	T	0.14	-2.753	5.1638	0.15075	0.0:0.4809:0.2783:0.2408	.	1144;1236	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	I	1083;137;1236;1144	ENSP00000441992:M1083I;ENSP00000356825:M1236I;ENSP00000356822:M1144I	ENSP00000271426:M137I	M	-	3	0	ADCY10	166065171	0.135000	0.22499	0.075000	0.20258	0.835000	0.47333	-0.470000	0.06639	-0.215000	0.10063	0.643000	0.83706	ATG		0.413	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1		NM_018417		26	89	0	0	0	1	0	26	89		
FMO3	2328	broad.mit.edu	37	1	171083364	171083364	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:171083364G>A	ENST00000367755.4	+	7	1156	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	FMO3_ENST00000392085.2_Missense_Mutation_p.E349K|FMO3_ENST00000538429.1_Missense_Mutation_p.E286K|FMO3_ENST00000542847.1_Missense_Mutation_p.E329K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	349					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CAGAAACAATGAGATCATTTT	0.428																																						uc001ghi.2		NaN																	0				skin(1)	1						c.(1045-1047)GAG>AAG		flavin containing monooxygenase 3							108.0	104.0	106.0					1																	171083364		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171083364G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1045G>A	1.37:g.171083364G>A	ENSP00000356729:p.Glu349Lys					FMO3_uc001ghh.2_Missense_Mutation_p.E349K|FMO3_uc010pmb.1_Missense_Mutation_p.E329K|FMO3_uc010pmc.1_Missense_Mutation_p.E286K	p.E349K	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			7	1156	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		349					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1045G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.718289	0.00700	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.92	2.8	0.32819	.	0.153798	0.64402	N	0.000016	T	0.08223	0.0205	N	0.12831	0.26	0.09310	N	1	B;B;B	0.28933	0.228;0.0;0.0	B;B;B	0.27262	0.078;0.003;0.006	T	0.37478	-0.9704	10	0.02654	T	1	-17.1946	4.1987	0.10455	0.2834:0.3095:0.4071:0.0	.	286;329;349	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	K	349;349;329;286	ENSP00000356729:E349K;ENSP00000375935:E349K;ENSP00000444073:E329K;ENSP00000439500:E286K	ENSP00000356729:E349K	E	+	1	0	FMO3	169349988	0.000000	0.05858	0.943000	0.38184	0.224000	0.24922	-0.294000	0.08309	1.094000	0.41399	0.650000	0.86243	GAG		0.428	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1		NM_006894		26	59	0	0	0	1	0	26	59		
PRDX6	9588	broad.mit.edu	37	1	173455466	173455466	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:173455466G>A	ENST00000340385.5	+	4	604	c.472G>A	c.(472-474)Gat>Aat	p.D158N	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	158	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						CAGGAACTTTGATGAGATTCT	0.443																																						uc001giy.1		NaN																	0				central_nervous_system(1)	1						c.(472-474)GAT>AAT		peroxiredoxin 6							150.0	158.0	155.0					1																	173455466		2203	4300	6503	SO:0001583	missense	9588				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding	g.chr1:173455466G>A	D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.472G>A	1.37:g.173455466G>A	ENSP00000342026:p.Asp158Asn						p.D158N	NM_004905	NP_004896	P30041	PRDX6_HUMAN			4	523	+			158			Thioredoxin.		A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Missense_Mutation	SNP	ENST00000340385.5	37	c.472G>A	CCDS1307.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109213	0.77096	.	.	ENSG00000117592	ENST00000340385	T	0.16196	2.36	5.63	5.63	0.86233	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.12178	0.0296	L	0.60904	1.88	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.02144	-1.1206	10	0.36615	T	0.2	-24.6797	18.8049	0.92032	0.0:0.0:1.0:0.0	.	158	P30041	PRDX6_HUMAN	N	158	ENSP00000342026:D158N	ENSP00000342026:D158N	D	+	1	0	PRDX6	171722089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.449000	0.80643	2.797000	0.96272	0.655000	0.94253	GAT		0.443	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084222.1		NM_004905		55	181	0	0	0	1	0	55	181		
RC3H1	149041	broad.mit.edu	37	1	173952637	173952637	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:173952637G>C	ENST00000367696.2	-	4	862	c.511C>G	c.(511-513)Ctc>Gtc	p.L171V	RC3H1_ENST00000367694.2_Missense_Mutation_p.L171V|RC3H1_ENST00000258349.4_Missense_Mutation_p.L171V			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	171					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TGGTGCTGGAGAATGAGCTCT	0.483																																						uc001gju.3		NaN																	0				ovary(2)	2						c.(511-513)CTC>GTC		roquin							148.0	124.0	132.0					1																	173952637		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173952637G>C	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.511C>G	1.37:g.173952637G>C	ENSP00000356669:p.Leu171Val					RC3H1_uc010pms.1_Missense_Mutation_p.L171V|RC3H1_uc001gjv.2_Missense_Mutation_p.L171V|RC3H1_uc010pmt.1_Missense_Mutation_p.L171V	p.L171V	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			3	598	-			171					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.511C>G	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.627982	0.66901	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.95103	-3.61;-3.61;-3.61	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.96658	0.8909	M	0.73962	2.25	0.58432	D	0.999999	D;D;D;D	0.89917	0.959;0.959;0.976;1.0	P;P;P;D	0.83275	0.65;0.65;0.81;0.996	D	0.96542	0.9401	10	0.66056	D	0.02	-9.7493	12.6226	0.56612	0.0764:0.0:0.9236:0.0	.	171;171;171;171	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	V	171	ENSP00000356669:L171V;ENSP00000258349:L171V;ENSP00000356667:L171V	ENSP00000258349:L171V	L	-	1	0	RC3H1	172219260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.354000	0.59417	2.630000	0.89119	0.557000	0.71058	CTC		0.483	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2		NM_172071		20	85	0	0	0	1	0	20	85		
ASTN1	460	broad.mit.edu	37	1	176833621	176833621	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:176833621G>C	ENST00000367654.3	-	23	3919	c.3708C>G	c.(3706-3708)ctC>ctG	p.L1236L	ASTN1_ENST00000361833.2_Silent_p.L1228L|ASTN1_ENST00000367657.3_Intron	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1236					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ACCAACTGCTGAGGTCCCCAA	0.522																																						uc001glc.2		NaN																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(3682-3684)CTC>CTG		astrotactin isoform 1							59.0	58.0	59.0					1																	176833621		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176833621G>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3708C>G	1.37:g.176833621G>C						ASTN1_uc001glb.1_Intron	p.L1228L	NM_004319	NP_004310	O14525	ASTN1_HUMAN			23	3896	-			1236					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.3684C>G																																																																																					0.522	ASTN1-201	KNOWN	basic	protein_coding	protein_coding			NM_004319		15	52	0	0	0	1	0	15	52		
ARPC5	10092	broad.mit.edu	37	1	183599601	183599601	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:183599601C>T	ENST00000359856.6	-	3	454	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	ARPC5_ENST00000294742.6_Missense_Mutation_p.E133K|ARPC5_ENST00000367534.1_Missense_Mutation_p.E130K|ARPC5_ENST00000462965.1_5'UTR	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	130					actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						CTTACCTTTTCATGCCATTGC	0.348																																					Melanoma(136;1596 1789 3041 4830 41075)	uc001gql.2		NaN																	0					0						c.(388-390)GAA>AAA		actin related protein 2/3 complex subunit 5							55.0	56.0	55.0					1																	183599601		2203	4300	6503	SO:0001583	missense	10092				actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr1:183599601C>T	AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"""Actin related protein 2/3 complex subunits"""	708	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p16"""	604227	"""actin related protein 2/3 complex, subunit 5 (16 kD)"""			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.388G>A	1.37:g.183599601C>T	ENSP00000352918:p.Glu130Lys						p.E130K	NM_005717	NP_005708	O15511	ARPC5_HUMAN			3	579	-			130					A6NEC4|Q6PG42	Missense_Mutation	SNP	ENST00000359856.6	37	c.388G>A	CCDS1357.1	.	.	.	.	.	.	.	.	.	.	C	33	5.277337	0.95459	.	.	ENSG00000162704	ENST00000367534;ENST00000359856;ENST00000294742	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.82802	0.5116	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83218	-0.0070	9	0.62326	D	0.03	-29.604	20.0081	0.97439	0.0:1.0:0.0:0.0	.	130	O15511	ARPC5_HUMAN	K	130;130;133	.	ENSP00000294742:E133K	E	-	1	0	ARPC5	181866224	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	7.711000	0.84669	2.727000	0.93392	0.650000	0.86243	GAA		0.348	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085477.1		NM_005717		12	53	0	0	0	1	0	12	53		
RGL1	23179	broad.mit.edu	37	1	183853908	183853908	+	Nonsense_Mutation	SNP	C	C	T	rs373969802		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:183853908C>T	ENST00000360851.3	+	7	965	c.787C>T	c.(787-789)Cga>Tga	p.R263*	RGL1_ENST00000536277.1_Nonsense_Mutation_p.R261*|RGL1_ENST00000304685.4_Nonsense_Mutation_p.R298*|RGL1_ENST00000539189.1_Nonsense_Mutation_p.R263*			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	263	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CATTTGGTCTCGAAGGGATAA	0.458																																						uc001gqo.2		NaN																	0				breast(5)|ovary(4)|lung(2)	11						c.(787-789)CGA>TGA		ral guanine nucleotide dissociation							138.0	117.0	124.0					1																	183853908		2203	4300	6503	SO:0001587	stop_gained	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183853908C>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.787C>T	1.37:g.183853908C>T	ENSP00000354097:p.Arg263*					RGL1_uc010pof.1_Nonsense_Mutation_p.R68*|RGL1_uc001gqm.2_Nonsense_Mutation_p.R298*|RGL1_uc010pog.1_Nonsense_Mutation_p.R261*|RGL1_uc010poh.1_Nonsense_Mutation_p.R261*|RGL1_uc010poi.1_Nonsense_Mutation_p.R263*	p.R263*	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			7	944	+			263			Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Nonsense_Mutation	SNP	ENST00000360851.3	37	c.787C>T		.	.	.	.	.	.	.	.	.	.	C	43	9.985546	0.99310	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	.	.	.	5.26	5.26	0.73747	.	0.583469	0.18200	N	0.148545	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	18.8981	0.92432	0.0:1.0:0.0:0.0	.	.	.	.	X	298;298;261;68;263;263	.	ENSP00000303192:R298X	R	+	1	2	RGL1	182120531	1.000000	0.71417	0.941000	0.38009	0.996000	0.88848	7.556000	0.82233	2.467000	0.83353	0.650000	0.86243	CGA		0.458	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1		NM_015149		22	68	0	0	0	1	0	22	68		
COLGALT2	23127	broad.mit.edu	37	1	183920242	183920242	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:183920242G>A	ENST00000361927.4	-	8	1406	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	COLGALT2_ENST00000367520.3_Silent_p.F82F|COLGALT2_ENST00000546159.1_Silent_p.F345F	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	345					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										GGTTTATCATGAAAATCTAAT	0.403																																						uc001gqr.2		NaN																	0				ovary(1)|breast(1)	2						c.(1033-1035)TTC>TTT		glycosyltransferase 25 domain containing 2							179.0	176.0	177.0					1																	183920242		2203	4300	6503	SO:0001819	synonymous_variant	23127				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr1:183920242G>A	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1035C>T	1.37:g.183920242G>A						GLT25D2_uc010poj.1_Silent_p.F345F|GLT25D2_uc001gqq.2_Silent_p.F82F|GLT25D2_uc001gqs.2_Silent_p.F225F	p.F345F	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN			8	1407	-			345					O60327|Q9BZR0	Silent	SNP	ENST00000361927.4	37	c.1035C>T	CCDS1360.1																																																																																				0.403	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1		NM_015101		72	109	0	0	0	1	0	72	109		
PRG4	10216	broad.mit.edu	37	1	186281364	186281364	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:186281364G>A	ENST00000445192.2	+	11	3896	c.3851G>A	c.(3850-3852)aGa>aAa	p.R1284K	TPR_ENST00000367478.4_3'UTR|PRG4_ENST00000367486.3_Missense_Mutation_p.R1241K|PRG4_ENST00000367484.3_Missense_Mutation_p.R813K|RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367485.4_Missense_Mutation_p.R1191K|PRG4_ENST00000367483.4_Missense_Mutation_p.R1243K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1284					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGCCCTGGAAGAAGGCCTGCT	0.403																																						uc001gru.3		NaN																	0				skin(1)	1						c.(3850-3852)AGA>AAA		proteoglycan 4 isoform A							103.0	102.0	102.0					1																	186281364		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186281364G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3851G>A	1.37:g.186281364G>A	ENSP00000399679:p.Arg1284Lys					PRG4_uc001grt.3_Missense_Mutation_p.R1243K|PRG4_uc009wyl.2_Missense_Mutation_p.R1191K|PRG4_uc009wym.2_Missense_Mutation_p.R1150K|PRG4_uc010poo.1_RNA|TPR_uc001grv.2_3'UTR	p.R1284K	NM_005807	NP_005798	Q92954	PRG4_HUMAN			11	3902	+			1284					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.3851G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189544	0.38707	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05319	3.52;3.64;3.59;3.46;3.6	5.38	4.46	0.54185	Hemopexin/matrixin (2);	0.159650	0.29205	N	0.012824	T	0.06781	0.0173	L	0.33485	1.01	0.09310	N	1	B;B;B;B	0.29508	0.241;0.241;0.246;0.241	B;B;B;B	0.36766	0.181;0.181;0.116;0.232	T	0.31364	-0.9946	10	0.31617	T	0.26	-13.3709	9.9302	0.41517	0.1544:0.0:0.8456:0.0	.	1150;1191;1284;1243	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	K	1241;813;1243;1191;1284	ENSP00000356456:R1241K;ENSP00000356454:R813K;ENSP00000356453:R1243K;ENSP00000356455:R1191K;ENSP00000399679:R1284K	ENSP00000356453:R1243K	R	+	2	0	PRG4	184547987	0.338000	0.24775	0.175000	0.22980	0.939000	0.58152	3.179000	0.50887	2.685000	0.91497	0.585000	0.79938	AGA		0.403	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1		NM_005807		57	71	0	0	0	1	0	57	71		
TPR	7175	broad.mit.edu	37	1	186313156	186313156	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:186313156G>C	ENST00000367478.4	-	26	3780	c.3484C>G	c.(3484-3486)Cag>Gag	p.Q1162E		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1162					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTTCGATCTGATCATGAAGT	0.393			T	NTRK1	papillary thyroid																																	uc001grv.2		NaN		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(3484-3486)CAG>GAG		nuclear pore complex-associated protein TPR							136.0	120.0	125.0					1																	186313156		1899	4110	6009	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186313156G>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3484C>G	1.37:g.186313156G>C	ENSP00000356448:p.Gln1162Glu						p.Q1162E	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	26	3781	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1162			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.3484C>G	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946428	0.92593	.	.	ENSG00000047410	ENST00000367478	T	0.50001	0.76	4.83	4.83	0.62350	Tetratricopeptide, MLP1/MLP2-like (1);	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	M	0.83483	2.645	0.80722	D	1	P	0.48998	0.918	P	0.55222	0.771	T	0.73681	-0.3906	10	0.66056	D	0.02	.	18.2711	0.90069	0.0:0.0:1.0:0.0	.	1162	P12270	TPR_HUMAN	E	1162	ENSP00000356448:Q1162E	ENSP00000356448:Q1162E	Q	-	1	0	TPR	184579779	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.388000	0.97237	2.399000	0.81585	0.491000	0.48974	CAG		0.393	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2		NM_003292		10	48	0	0	0	1	0	10	48		
KCNT2	343450	broad.mit.edu	37	1	196397285	196397285	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:196397285C>G	ENST00000294725.9	-	10	1849	c.934G>C	c.(934-936)Gat>Cat	p.D312H	KCNT2_ENST00000367433.5_Missense_Mutation_p.D312H|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.D312H|KCNT2_ENST00000609185.1_Missense_Mutation_p.D312H			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	312					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATAAGTAAATCAATCTTCAGT	0.373																																						uc001gtd.1		NaN																	0				ovary(5)|breast(1)|skin(1)	7						c.(934-936)GAT>CAT		potassium channel, subfamily T, member 2							116.0	109.0	111.0					1																	196397285		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196397285C>G	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.934G>C	1.37:g.196397285C>G	ENSP00000294725:p.Asp312His					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.D312H|KCNT2_uc001gtf.1_Missense_Mutation_p.D312H|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.D312H|KCNT2_uc009wyv.1_Missense_Mutation_p.D287H	p.D312H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			10	994	-			312			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.934G>C	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611439	0.87258	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.24908	1.83;1.83;1.83	5.73	5.73	0.89815	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000006	T	0.55816	0.1944	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.71674	0.99;0.987;0.998;0.99	P;D;D;P	0.68765	0.766;0.913;0.96;0.766	T	0.59016	-0.7533	10	0.87932	D	0	-25.4642	19.9133	0.97031	0.0:1.0:0.0:0.0	.	312;312;312;312	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	H	312;312;133;312	ENSP00000356403:D312H;ENSP00000356401:D312H;ENSP00000294725:D312H	ENSP00000294725:D312H	D	-	1	0	KCNT2	194663908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.794000	0.85869	2.721000	0.93114	0.655000	0.94253	GAT		0.373	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2		NM_198503		20	72	0	0	0	1	0	20	72		
CFHR2	3080	broad.mit.edu	37	1	196928035	196928035	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:196928035T>C	ENST00000367415.5	+	5	738	c.638T>C	c.(637-639)aTt>aCt	p.I213T	CFHR2_ENST00000476712.2_Missense_Mutation_p.I197T|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.I213T	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	213	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TCACAAGAAATTATGGAAAAA	0.274																																						uc001gtq.1		NaN																	0				skin(2)|ovary(1)	3						c.(637-639)ATT>ACT		H factor (complement)-like 3 precursor							34.0	36.0	35.0					1																	196928035		2177	4272	6449	SO:0001583	missense	3080					extracellular region		g.chr1:196928035T>C	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.638T>C	1.37:g.196928035T>C	ENSP00000356385:p.Ile213Thr					CFHR2_uc001gtr.1_Missense_Mutation_p.I89T	p.I213T	NM_005666	NP_005657	P36980	FHR2_HUMAN			5	715	+			213			Sushi 4.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.638T>C	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	1.013	-0.687172	0.03328	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	D;D	0.83163	-1.69;-1.69	3.52	-0.328	0.12690	Complement control module (1);Sushi/SCR/CCP (1);	2.896160	0.01650	N	0.024484	T	0.74726	0.3754	L	0.40543	1.245	0.09310	N	1	B;B	0.18013	0.025;0.005	B;B	0.29716	0.106;0.008	T	0.49153	-0.8969	10	0.20046	T	0.44	.	0.3529	0.00352	0.1862:0.2292:0.1912:0.3934	.	186;213	P36980-2;P36980	.;FHR2_HUMAN	T	213	ENSP00000356391:I213T;ENSP00000356385:I213T	ENSP00000356385:I213T	I	+	2	0	CFHR2	195194658	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.382000	0.02546	-0.281000	0.09141	0.443000	0.29094	ATT		0.274	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2		NM_005666		8	31	0	0	0	1	0	8	31		
CHIT1	1118	broad.mit.edu	37	1	203191375	203191375	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:203191375G>C	ENST00000367229.1	-	7	718	c.684C>G	c.(682-684)ctC>ctG	p.L228L	CHIT1_ENST00000255427.3_Silent_p.L209L|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Silent_p.L219L	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	228					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCCTCTTGTAGAGGGGGCTGT	0.577																																						uc001gzn.2		NaN																	0					0						c.(682-684)CTC>CTG		chitotriosidase precursor							100.0	75.0	84.0					1																	203191375		2203	4300	6503	SO:0001819	synonymous_variant	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203191375G>C	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.684C>G	1.37:g.203191375G>C						FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_Silent_p.L19L|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Silent_p.L219L	p.L228L	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			7	780	-			228					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	ENST00000367229.1	37	c.684C>G	CCDS1436.1																																																																																				0.577	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2		NM_003465		19	54	0	0	0	1	0	19	54		
ATP2B4	493	broad.mit.edu	37	1	203693083	203693083	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:203693083C>T	ENST00000357681.5	+	19	4222	c.3099C>T	c.(3097-3099)ctC>ctT	p.L1033L	ATP2B4_ENST00000367218.3_Silent_p.L1033L|ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000341360.2_Silent_p.L1033L|ATP2B4_ENST00000367219.3_Silent_p.L1021L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1033					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTGGTGTCTCTTCATTGGGA	0.532																																						uc001gzw.2		NaN																	0				ovary(2)|skin(1)	3						c.(3097-3099)CTC>CTT		plasma membrane calcium ATPase 4 isoform 4b							152.0	155.0	154.0					1																	203693083		2203	4300	6503	SO:0001819	synonymous_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203693083C>T	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3099C>T	1.37:g.203693083C>T						ATP2B4_uc001gzv.2_Silent_p.L1033L|ATP2B4_uc009xaq.2_Silent_p.L1033L|ATP2B4_uc001gzx.2_Silent_p.L64L|ATP2B4_uc009xar.2_Intron	p.L1033L	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		19	3983	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		1033			Helical; (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	c.3099C>T	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	C	9.119	1.008442	0.19199	.	.	ENSG00000058668	ENST00000458092	.	.	.	5.19	1.7	0.24286	.	.	.	.	.	T	0.46870	0.1415	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29701	-1.0003	4	.	.	.	-20.3079	4.4761	0.11745	0.1313:0.4971:0.2583:0.1133	.	.	.	.	F	20	.	.	S	+	2	0	ATP2B4	201959706	0.880000	0.30214	1.000000	0.80357	0.882000	0.50991	0.017000	0.13399	0.551000	0.29008	-0.156000	0.13503	TCT		0.532	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1		NM_001001396		24	100	0	0	0	1	0	24	100		
TLR5	7100	broad.mit.edu	37	1	223285449	223285449	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:223285449C>T	ENST00000540964.1	-	4	1386	c.925G>A	c.(925-927)Gag>Aag	p.E309K	TLR5_ENST00000342210.6_Missense_Mutation_p.E309K			O60602	TLR5_HUMAN	toll-like receptor 5	309					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTGAGTGTCTCAAAGACTCGT	0.443																																						uc001hnv.1		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(925-927)GAG>AAG		toll-like receptor 5 precursor							83.0	82.0	83.0					1																	223285449		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285449C>T		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.925G>A	1.37:g.223285449C>T	ENSP00000440643:p.Glu309Lys					TLR5_uc001hnw.1_Missense_Mutation_p.E309K	p.E309K	NM_003268	NP_003259	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1371	-			309			Extracellular (Potential).|LRR 5.		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.925G>A	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	C	4.886	0.164751	0.09287	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.23754	1.89;1.89;1.89	5.27	2.03	0.26663	.	0.714437	0.14140	N	0.338743	T	0.16769	0.0403	N	0.25957	0.775	0.09310	N	0.999999	B	0.15719	0.014	B	0.23852	0.049	T	0.19257	-1.0311	10	0.34782	T	0.22	.	7.1721	0.25724	0.1069:0.5367:0.2862:0.0703	.	309	O60602	TLR5_HUMAN	K	309	ENSP00000440643:E309K;ENSP00000355846:E309K;ENSP00000340089:E309K	ENSP00000340089:E309K	E	-	1	0	TLR5	221352072	0.004000	0.15560	0.904000	0.35570	0.268000	0.26511	0.013000	0.13310	1.160000	0.42584	0.655000	0.94253	GAG		0.443	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_003268		51	62	0	0	0	1	0	51	62		
PARP1	142	broad.mit.edu	37	1	226566910	226566910	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:226566910C>G	ENST00000366794.5	-	12	1821	c.1678G>C	c.(1678-1680)Gtg>Ctg	p.V560L		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	560					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		ACGATGTCCACCAGGCCAAGG	0.527								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001hqd.3		NaN																	0				lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10						c.(1678-1680)GTG>CTG	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 1							208.0	183.0	192.0					1																	226566910		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226566910C>G	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1678G>C	1.37:g.226566910C>G	ENSP00000355759:p.Val560Leu						p.V560L	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	12	1849	-	Breast(184;0.133)		560					B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.1678G>C	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014318	0.93404	.	.	ENSG00000143799	ENST00000366794	T	0.18657	2.2	5.18	5.18	0.71444	WGR domain (3);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.76838	2.35	0.80722	D	1	D	0.63880	0.993	D	0.69307	0.963	T	0.44832	-0.9302	10	0.40728	T	0.16	.	18.6826	0.91551	0.0:1.0:0.0:0.0	.	560	P09874	PARP1_HUMAN	L	560	ENSP00000355759:V560L	ENSP00000355759:V560L	V	-	1	0	PARP1	224633533	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.277000	0.78572	2.408000	0.81797	0.655000	0.94253	GTG		0.527	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1		NM_001618		59	109	0	0	0	1	0	59	109		
ACTN2	88	broad.mit.edu	37	1	236908074	236908074	+	Silent	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:236908074C>G	ENST00000366578.4	+	12	1570	c.1404C>G	c.(1402-1404)ctC>ctG	p.L468L	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Silent_p.L468L	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	468					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGCAGGAGCTCAAGTATGTGC	0.647																																						uc001hyf.2		NaN																	0				ovary(4)|skin(1)	5						c.(1402-1404)CTC>CTG		actinin, alpha 2							53.0	45.0	48.0					1																	236908074		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236908074C>G	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1404C>G	1.37:g.236908074C>G						ACTN2_uc001hyg.2_Silent_p.L260L|ACTN2_uc009xgi.1_Silent_p.L468L|ACTN2_uc010pxu.1_Silent_p.L157L|ACTN2_uc001hyh.2_Silent_p.L156L	p.L468L	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		12	1608	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	468			Spectrin 2.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.1404C>G	CCDS1613.1																																																																																				0.647	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1		NM_001103		12	48	0	0	0	1	0	12	48		
OR1C1	26188	broad.mit.edu	37	1	247920938	247920938	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:247920938G>A	ENST00000408896.2	-	1	1044	c.771C>T	c.(769-771)gcC>gcT	p.A257A		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	257					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGAAATAGACGGCGATGGCTG	0.512																																						uc010pza.1		NaN																	0				skin(1)	1						c.(769-771)GCC>GCT		olfactory receptor, family 1, subfamily C,							69.0	69.0	69.0					1																	247920938		2048	4212	6260	SO:0001819	synonymous_variant	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920938G>A	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.771C>T	1.37:g.247920938G>A							p.A257A	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	771	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	257			Helical; Name=6; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	c.771C>T	CCDS41481.1																																																																																				0.512	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1				25	53	0	0	0	1	0	25	53		
OR2M5	127059	broad.mit.edu	37	1	248308805	248308805	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:248308805C>G	ENST00000366476.1	+	1	356	c.356C>G	c.(355-357)tCt>tGt	p.S119C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCTGTTATGTCTTATGACCGC	0.453																																						uc010pze.1		NaN																	0				ovary(2)|kidney(1)	3						c.(355-357)TCT>TGT		olfactory receptor, family 2, subfamily M,							311.0	305.0	307.0					1																	248308805		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308805C>G		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.356C>G	1.37:g.248308805C>G	ENSP00000355432:p.Ser119Cys						p.S119C	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	356	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		119			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000366476.1	37	c.356C>G	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	11.77	1.737479	0.30774	.	.	ENSG00000162727	ENST00000366476	T	0.52295	0.67	3.28	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.267855	0.19552	U	0.111557	T	0.65698	0.2716	M	0.90870	3.155	0.33227	D	0.55542	B	0.29188	0.236	B	0.41988	0.372	T	0.78884	-0.2028	10	0.87932	D	0	.	14.4562	0.67418	0.0:1.0:0.0:0.0	.	119	A3KFT3	OR2M5_HUMAN	C	119	ENSP00000355432:S119C	ENSP00000355432:S119C	S	+	2	0	OR2M5	246375428	0.997000	0.39634	0.177000	0.23020	0.157000	0.22087	4.043000	0.57354	1.528000	0.49103	0.492000	0.49549	TCT		0.453	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1		NM_001004690		116	354	0	0	0	1	0	116	354		
SFMBT2	57713	broad.mit.edu	37	10	7262479	7262479	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:7262479G>A	ENST00000361972.4	-	11	1314	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	SFMBT2_ENST00000397167.1_Silent_p.F408F	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	408					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGTTCTTTGTGAAACCTCGAC	0.502																																						uc009xio.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1222-1224)TTC>TTT		Scm-like with four mbt domains 2							187.0	164.0	172.0					10																	7262479		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7262479G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1224C>T	10.37:g.7262479G>A						SFMBT2_uc001ijn.1_Silent_p.F408F|SFMBT2_uc010qay.1_Intron	p.F408F	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			11	1315	-			408			MBT 4.		A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.1224C>T	CCDS31138.1																																																																																				0.502	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1		NM_001029880		18	70	0	0	0	1	0	18	70		
ARHGAP12	94134	broad.mit.edu	37	10	32097634	32097634	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:32097634C>A	ENST00000344936.2	-	19	2543	c.2309G>T	c.(2308-2310)aGa>aTa	p.R770I	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R765I|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R718I|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.R740I|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R718I	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	770	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TGGCAACTGTCTGATTAGGTC	0.433																																						uc001ivz.1		NaN																	0					0						c.(2308-2310)AGA>ATA		Rho GTPase activating protein 12							336.0	289.0	305.0					10																	32097634		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32097634C>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.2309G>T	10.37:g.32097634C>A	ENSP00000345808:p.Arg770Ile					ARHGAP12_uc001ivy.1_Missense_Mutation_p.R716I|ARHGAP12_uc009xls.2_Missense_Mutation_p.R721I|ARHGAP12_uc001iwb.1_Missense_Mutation_p.R763I|ARHGAP12_uc001iwc.1_Missense_Mutation_p.R738I|ARHGAP12_uc009xlq.1_Missense_Mutation_p.R691I|ARHGAP12_uc001ivw.1_5'Flank|ARHGAP12_uc001ivx.1_Missense_Mutation_p.R69I	p.R770I	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN			19	2579	-		Prostate(175;0.0199)	770			Rho-GAP.		B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.2309G>T	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223706	0.79576	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	5.36	-0.692	0.11301	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.186510	0.56097	D	0.000036	T	0.28599	0.0708	M	0.67517	2.055	0.50313	D	0.999866	B;B;B;B;B;B	0.33044	0.086;0.343;0.395;0.395;0.343;0.051	B;B;P;P;B;B	0.44772	0.167;0.33;0.46;0.46;0.33;0.116	T	0.10636	-1.0621	10	0.62326	D	0.03	.	9.2975	0.37824	0.0:0.3805:0.0:0.6195	.	723;740;765;770;718;69	Q1RLN5;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3;Q9NV28	.;.;.;RHG12_HUMAN;.;.	I	718;740;770;765;718	ENSP00000310984:R718I;ENSP00000364399:R740I;ENSP00000345808:R770I;ENSP00000379448:R765I;ENSP00000364394:R718I	ENSP00000310984:R718I	R	-	2	0	ARHGAP12	32137640	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	1.298000	0.33412	-0.217000	0.10033	0.650000	0.86243	AGA		0.433	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1				47	136	1	0	2.74695e-27	1	2.91582e-27	47	136		
MAPK8	5599	broad.mit.edu	37	10	49633961	49633961	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:49633961A>G	ENST00000374189.1	+	8	900	c.719A>G	c.(718-720)cAg>cGg	p.Q240R	MAPK8_ENST00000360332.3_Missense_Mutation_p.Q240R|MAPK8_ENST00000395611.3_Intron|MAPK8_ENST00000374182.3_Missense_Mutation_p.Q240R			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|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)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GTTATTGAACAGCTTGGAACA	0.318																																						uc009xnz.2		NaN																	0				central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8						c.(718-720)CAG>CGG		mitogen-activated protein kinase 8 isoform JNK1							109.0	101.0	104.0					10																	49633961		2203	4300	6503	SO:0001583	missense	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49633961A>G	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.719A>G	10.37:g.49633961A>G	ENSP00000363304:p.Gln240Arg					MAPK8_uc001jgl.2_Missense_Mutation_p.Q240R|MAPK8_uc001jgm.2_Missense_Mutation_p.Q240R|MAPK8_uc001jgo.2_Missense_Mutation_p.Q240R|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Missense_Mutation_p.Q240R|MAPK8_uc010qgk.1_Missense_Mutation_p.Q240R|MAPK8_uc001jgp.2_Missense_Mutation_p.Q240R|MAPK8_uc001jgq.2_Missense_Mutation_p.Q240R	p.Q240R	NM_139047	NP_620635	P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	8	943	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	240			Protein kinase.		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	c.719A>G	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391682	0.83011	.	.	ENSG00000107643	ENST00000374189;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.23249	0.067;0.082;0.082;0.067	B;B;B;B	0.28991	0.059;0.097;0.097;0.059	T	0.50931	-0.8769	10	0.62326	D	0.03	.	16.3123	0.82883	1.0:0.0:0.0:0.0	.	240;240;240;240	P45983-2;P45983;A1L4K2;P45983-3	.;MK08_HUMAN;.;.	R	240	ENSP00000363304:Q240R;ENSP00000363297:Q240R;ENSP00000363294:Q240R;ENSP00000353483:Q240R;ENSP00000363291:Q240R	ENSP00000353483:Q240R	Q	+	2	0	MAPK8	49303967	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.309000	0.78937	2.308000	0.77769	0.533000	0.62120	CAG		0.318	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1				9	44	0	0	0	1	0	9	44		
A1CF	29974	broad.mit.edu	37	10	52619618	52619618	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:52619618C>G	ENST00000373993.1	-	1	127	c.83G>C	c.(82-84)gGa>gCa	p.G28A	A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000373997.3_Missense_Mutation_p.G28A|A1CF_ENST00000282641.2_Missense_Mutation_p.G28A|A1CF_ENST00000395495.1_Missense_Mutation_p.G28A|A1CF_ENST00000374001.2_Missense_Mutation_p.G28A			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	28					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CAAGCTATATCCTGTGCGCTG	0.498																																						uc001jjj.2		NaN																	0				central_nervous_system(1)	1						c.(82-84)GGA>GCA		apobec-1 complementation factor isoform 2							90.0	80.0	83.0					10																	52619618		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52619618C>G	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.83G>C	10.37:g.52619618C>G	ENSP00000363105:p.Gly28Ala					A1CF_uc010qhn.1_5'UTR|A1CF_uc001jji.2_Missense_Mutation_p.G28A|A1CF_uc001jjh.2_5'UTR|A1CF_uc010qho.1_5'UTR|A1CF_uc009xov.2_Missense_Mutation_p.G28A|A1CF_uc001jjk.1_Missense_Mutation_p.G28A	p.G28A	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			3	271	-			28					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.83G>C	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450830	0.84209	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000282641;ENST00000395495;ENST00000414883	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;2.67;2.06	5.83	5.83	0.93111	.	0.709565	0.14215	N	0.333774	T	0.68897	0.3051	M	0.81497	2.545	0.80722	D	1	B;D	0.89917	0.397;1.0	B;D	0.76575	0.057;0.988	T	0.69157	-0.5219	10	0.72032	D	0.01	.	17.6277	0.88097	0.0:1.0:0.0:0.0	.	28;28	Q9NQ94;Q9NQ94-2	A1CF_HUMAN;.	A	28	ENSP00000363113:G28A;ENSP00000363105:G28A;ENSP00000363109:G28A;ENSP00000282641:G28A;ENSP00000378873:G28A;ENSP00000397953:G28A	ENSP00000282641:G28A	G	-	2	0	A1CF	52289624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.944000	0.75940	2.770000	0.95276	0.655000	0.94253	GGA		0.498	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2		NM_014576		15	43	0	0	0	1	0	15	43		
CDH23	64072	broad.mit.edu	37	10	73326687	73326687	+	Silent	SNP	C	C	T	rs397517348		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:73326687C>T	ENST00000224721.6	+	6	638	c.633C>T	c.(631-633)aaC>aaT	p.N211N	CDH23_ENST00000461841.3_Silent_p.N251N|CDH23_ENST00000299366.7_Silent_p.N251N|CDH23_ENST00000398809.4_Silent_p.N206N|CDH23_ENST00000398842.3_Silent_p.N206N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	206	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCACGGTCAACGCCACAGTGA	0.627																																						uc001jrx.3		NaN																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(616-618)AAC>AAT		cadherin-like 23 isoform 1 precursor							33.0	35.0	34.0					10																	73326687		2056	4177	6233	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73326687C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.633C>T	10.37:g.73326687C>T						CDH23_uc001jrw.3_Silent_p.N206N|CDH23_uc001jrv.2_Silent_p.N201N|CDH23_uc009xql.2_Silent_p.N251N	p.N206N	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			7	995	+			206			Cadherin 2.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.618C>T																																																																																					0.627	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4		NM_052836		4	24	0	0	0	1	0	4	24		
KIF20B	9585	broad.mit.edu	37	10	91487639	91487639	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:91487639G>C	ENST00000371728.3	+	17	2322	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	KIF20B_ENST00000394289.2_Missense_Mutation_p.E753Q|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.E713Q|KIF20B_ENST00000416354.1_Missense_Mutation_p.E753Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	753				E -> K (in Ref. 1; BAB69456). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TCAAGAGCTTGAGACATCTAA	0.244																																						uc001kgs.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2257-2259)GAG>CAG		M-phase phosphoprotein 1							60.0	59.0	59.0					10																	91487639		2185	4285	6470	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91487639G>C	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2257G>C	10.37:g.91487639G>C	ENSP00000360793:p.Glu753Gln					KIF20B_uc001kgr.1_Missense_Mutation_p.E713Q|KIF20B_uc001kgt.1_5'UTR	p.E753Q	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			17	2329	+			753	E -> K (in Ref. 1; BAB69456).		Potential.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.2257G>C		.	.	.	.	.	.	.	.	.	.	G	7.073	0.568727	0.13560	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.77	1.39	0.22231	.	0.404061	0.19054	N	0.123967	T	0.13114	0.0318	L	0.56769	1.78	0.09310	N	1	B;P	0.37330	0.361;0.59	B;B	0.36244	0.081;0.22	T	0.24190	-1.0167	10	0.10636	T	0.68	0.2026	6.0711	0.19889	0.4262:0.0:0.5738:0.0	.	753;713	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Q	713;753;753;753;320	ENSP00000260753:E713Q;ENSP00000411545:E753Q;ENSP00000377830:E753Q;ENSP00000360793:E753Q	ENSP00000260753:E713Q	E	+	1	0	KIF20B	91477619	0.722000	0.28017	0.001000	0.08648	0.474000	0.32979	1.088000	0.30877	0.055000	0.16094	0.305000	0.20034	GAG		0.244	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1		NM_016195		4	21	0	0	0	1	0	4	21		
CRTAC1	55118	broad.mit.edu	37	10	99770957	99770957	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:99770957G>C	ENST00000370597.3	-	2	517	c.162C>G	c.(160-162)ctC>ctG	p.L54L	CRTAC1_ENST00000298819.4_Silent_p.L54L|CRTAC1_ENST00000370591.2_Silent_p.L54L	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	54						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CACCATAGTTGAGCTGGGTGG	0.537																																						uc001kou.1		NaN																	0				ovary(4)|pancreas(1)	5						c.(160-162)CTC>CTG		cartilage acidic protein 1 precursor							186.0	154.0	165.0					10																	99770957		2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99770957G>C	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.162C>G	10.37:g.99770957G>C						CRTAC1_uc001kov.2_Silent_p.L43L	p.L54L	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	2	518	-		Colorectal(252;0.24)	54			FG-GAP 1; atypical.		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	c.162C>G	CCDS31266.1																																																																																				0.537	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1		NM_018058		35	83	0	0	0	1	0	35	83		
R3HCC1L	27291	broad.mit.edu	37	10	99969078	99969078	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:99969078G>C	ENST00000298999.3	+	5	1510	c.1207G>C	c.(1207-1209)Gat>Cat	p.D403H	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.D403H	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	403							nucleotide binding (GO:0000166)										TAGAATAGCTGATGAGACCTC	0.398																																						uc001kow.3		NaN																	0				large_intestine(1)|skin(1)	2						c.(1207-1209)GAT>CAT		growth inhibition and differentiation related							167.0	156.0	160.0					10																	99969078		2203	4300	6503	SO:0001583	missense	27291						nucleotide binding	g.chr10:99969078G>C	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1207G>C	10.37:g.99969078G>C	ENSP00000298999:p.Asp403His					C10orf28_uc001kox.3_Missense_Mutation_p.D403H|C10orf28_uc001koy.3_Missense_Mutation_p.D403H|C10orf28_uc009xvx.2_Missense_Mutation_p.D403H|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	p.D403H	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)	4	1502	+		Colorectal(252;0.234)	403					O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	c.1207G>C	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	G	8.186	0.794859	0.16327	.	.	ENSG00000166024	ENST00000370584;ENST00000298999	T;T	0.10099	2.91;2.91	4.85	2.99	0.34606	.	0.378436	0.25941	N	0.027304	T	0.23014	0.0556	M	0.65975	2.015	0.20926	N	0.999824	D;D	0.71674	0.998;0.998	D;D	0.63113	0.911;0.911	T	0.03344	-1.1046	9	.	.	.	-2.2951	6.5904	0.22644	0.0969:0.1815:0.7216:0.0	.	403;403	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	H	403	ENSP00000359616:D403H;ENSP00000298999:D403H	.	D	+	1	0	C10orf28	99959068	0.833000	0.29383	0.026000	0.17262	0.174000	0.22865	1.161000	0.31773	0.645000	0.30675	0.655000	0.94253	GAT		0.398	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1		NM_014472		41	100	0	0	0	1	0	41	100		
CHUK	1147	broad.mit.edu	37	10	101981902	101981902	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:101981902C>G	ENST00000370397.7	-	4	438	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|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)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ATCTGGCTTTCTTTAAGTCCA	0.348																																					Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7						c.(352-354)GAA>CAA		conserved helix-loop-helix ubiquitous kinase							57.0	54.0	55.0					10																	101981902		2199	4295	6494	SO:0001583	missense	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101981902C>G	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.352G>C	10.37:g.101981902C>G	ENSP00000359424:p.Glu118Gln						p.E118Q	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	4	407	-		Colorectal(252;0.117)	118			Protein kinase.		O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	ENST00000370397.7	37	c.352G>C	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823434	0.90873	.	.	ENSG00000213341	ENST00000370397	T	0.31247	1.5	6.07	6.07	0.98685	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	0.61299	0.2336	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62473	-0.6847	10	0.59425	D	0.04	-18.5899	18.1532	0.89682	0.0:1.0:0.0:0.0	.	118	O15111	IKKA_HUMAN	Q	118	ENSP00000359424:E118Q	ENSP00000359424:E118Q	E	-	1	0	CHUK	101971892	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.183000	0.77697	2.885000	0.99019	0.655000	0.94253	GAA		0.348	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1		NM_001278		4	24	0	0	0	1	0	4	24		
KCNIP2	30819	broad.mit.edu	37	10	103587157	103587157	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:103587157C>A	ENST00000356640.2	-	10	1041	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	KCNIP2_ENST00000358038.3_Splice_Site_p.D238Y|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000348850.5_Splice_Site_p.D211Y|KCNIP2_ENST00000353068.3_Splice_Site_p.D213Y|KCNIP2_ENST00000370046.1_Splice_Site_p.D170Y|KCNIP2_ENST00000461105.1_Splice_Site_p.D271Y|KCNIP2_ENST00000343195.4_Splice_Site_p.D206Y	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	256	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		ATGTTCTCATCCTGTGGCCAT	0.522																																						uc001kub.2		NaN																	0					0						c.(766-768)GAT>TAT		Kv channel interacting protein 2 isoform 2							131.0	116.0	121.0					10																	103587157		2203	4300	6503	SO:0001630	splice_region_variant	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding	g.chr10:103587157C>A		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.766-1G>T	10.37:g.103587157C>A						KCNIP2_uc010qqg.1_Missense_Mutation_p.D200Y|KCNIP2_uc001ktx.2_RNA|KCNIP2_uc001kty.2_Missense_Mutation_p.D154Y|KCNIP2_uc001ktz.2_Missense_Mutation_p.D211Y|KCNIP2_uc009xwu.2_Missense_Mutation_p.D205Y|KCNIP2_uc009xwv.2_Missense_Mutation_p.D202Y|KCNIP2_uc001kuc.2_Missense_Mutation_p.D271Y|KCNIP2_uc001kue.2_Missense_Mutation_p.D238Y|KCNIP2_uc001kud.2_Missense_Mutation_p.D213Y|KCNIP2_uc001kuf.2_Missense_Mutation_p.D206Y|KCNIP2_uc001kua.2_Missense_Mutation_p.D187Y|KCNIP2_uc009xww.2_RNA	p.D256Y	NM_173191	NP_775283	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	10	1118	-		Colorectal(252;0.122)	256			EF-hand 4.		A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Missense_Mutation	SNP	ENST00000356640.2	37	c.766G>T	CCDS7522.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209986	0.79240	.	.	ENSG00000120049	ENST00000348850;ENST00000358038;ENST00000359877;ENST00000370059;ENST00000356640;ENST00000370046;ENST00000434163;ENST00000353068;ENST00000461105;ENST00000343195	T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;0.95;-0.3;-0.3;-0.3	4.97	4.97	0.65823	EF-hand-like domain (1);	0.047229	0.85682	D	0.000000	D	0.88749	0.6521	H	0.97440	4.005	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.997;0.993;0.997;0.999;0.998;0.999;0.997;0.998;0.997;1.0	D	0.92454	0.5972	10	0.87932	D	0	.	18.7755	0.91910	0.0:1.0:0.0:0.0	.	200;202;205;206;238;213;271;256;187;211;163	B4DHY9;Q9NS61-5;Q3YAC7;Q9NS61-3;Q9NS61-2;Q9NS61-7;Q9NS61-6;Q9NS61;B3KSZ5;Q3YAC6;Q9NS61-8	.;.;.;.;.;.;.;KCIP2_HUMAN;.;.;.	Y	211;238;187;238;256;170;163;213;271;206	ENSP00000239118:D211Y;ENSP00000350733:D238Y;ENSP00000349055:D256Y;ENSP00000359063:D170Y;ENSP00000411679:D163Y;ENSP00000341624:D213Y;ENSP00000420040:D271Y;ENSP00000344169:D206Y	ENSP00000344169:D206Y	D	-	1	0	KCNIP2	103577147	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.609000	0.82925	2.746000	0.94184	0.561000	0.74099	GAT		0.522	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1			Missense_Mutation	25	111	1	0	1.55469e-16	1	1.62693e-16	25	111		
KCNIP2	30819	broad.mit.edu	37	10	103587660	103587660	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:103587660C>G	ENST00000356640.2	-	8	963	c.688G>C	c.(688-690)Gag>Cag	p.E230Q	KCNIP2_ENST00000358038.3_Missense_Mutation_p.E212Q|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000348850.5_Missense_Mutation_p.E185Q|KCNIP2_ENST00000353068.3_Missense_Mutation_p.E187Q|KCNIP2_ENST00000370046.1_Missense_Mutation_p.E144Q|KCNIP2_ENST00000461105.1_Missense_Mutation_p.E245Q|KCNIP2_ENST00000343195.4_Missense_Mutation_p.E180Q	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	230	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		AAGAAGCTCTCCACGTGTTCC	0.557																																						uc001kub.2		NaN																	0					0						c.(688-690)GAG>CAG		Kv channel interacting protein 2 isoform 2							98.0	87.0	91.0					10																	103587660		2203	4300	6503	SO:0001583	missense	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding	g.chr10:103587660C>G		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.688G>C	10.37:g.103587660C>G	ENSP00000349055:p.Glu230Gln					KCNIP2_uc010qqg.1_Missense_Mutation_p.E174Q|KCNIP2_uc001ktx.2_RNA|KCNIP2_uc001kty.2_Missense_Mutation_p.E128Q|KCNIP2_uc001ktz.2_Missense_Mutation_p.E185Q|KCNIP2_uc009xwu.2_Missense_Mutation_p.E180Q|KCNIP2_uc009xwv.2_Missense_Mutation_p.E176Q|KCNIP2_uc001kuc.2_Missense_Mutation_p.E245Q|KCNIP2_uc001kue.2_Missense_Mutation_p.E212Q|KCNIP2_uc001kud.2_Missense_Mutation_p.E187Q|KCNIP2_uc001kuf.2_Missense_Mutation_p.E180Q|KCNIP2_uc001kua.2_Missense_Mutation_p.E161Q|KCNIP2_uc009xww.2_RNA|KCNIP2_uc010qqh.1_Missense_Mutation_p.E185Q|KCNIP2_uc010qqi.1_Missense_Mutation_p.E144Q	p.E230Q	NM_173191	NP_775283	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	8	1040	-		Colorectal(252;0.122)	230			EF-hand 4.		A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Missense_Mutation	SNP	ENST00000356640.2	37	c.688G>C	CCDS7522.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454245	0.63290	.	.	ENSG00000120049	ENST00000348850;ENST00000358038;ENST00000359877;ENST00000370059;ENST00000356640;ENST00000370046;ENST00000434163;ENST00000353068;ENST00000461105;ENST00000343195;ENST00000239117	T;T;T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	4.95	4.95	0.65309	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	M	0.85299	2.745	0.80722	D	1	D;P;P;P;P;P;P;B;P;P;D;P;P	0.61697	0.99;0.715;0.619;0.867;0.891;0.867;0.936;0.036;0.936;0.654;0.972;0.887;0.872	P;P;P;P;P;P;P;B;P;P;P;P;P	0.62184	0.726;0.875;0.593;0.642;0.756;0.642;0.733;0.306;0.646;0.605;0.899;0.729;0.716	D	0.87352	0.2338	10	0.72032	D	0.01	.	18.3765	0.90437	0.0:1.0:0.0:0.0	.	144;185;174;176;180;180;212;187;245;230;161;185;137	Q9NS61-9;B4DW99;B4DHY9;Q9NS61-5;Q3YAC7;Q9NS61-3;Q9NS61-2;Q9NS61-7;Q9NS61-6;Q9NS61;B3KSZ5;Q3YAC6;Q9NS61-8	.;.;.;.;.;.;.;.;.;KCIP2_HUMAN;.;.;.	Q	185;212;161;212;230;144;137;187;245;180;144	ENSP00000239118:E185Q;ENSP00000350733:E212Q;ENSP00000349055:E230Q;ENSP00000359063:E144Q;ENSP00000411679:E137Q;ENSP00000341624:E187Q;ENSP00000420040:E245Q;ENSP00000344169:E180Q;ENSP00000239117:E144Q	ENSP00000239117:E144Q	E	-	1	0	KCNIP2	103577650	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	7.643000	0.83403	2.571000	0.86741	0.561000	0.74099	GAG		0.557	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1				15	58	0	0	0	1	0	15	58		
KCNIP2	30819	broad.mit.edu	37	10	103588900	103588900	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:103588900C>G	ENST00000356640.2	-	4	555	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	KCNIP2_ENST00000358038.3_Missense_Mutation_p.E76Q|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000348850.5_Missense_Mutation_p.E49Q|KCNIP2_ENST00000353068.3_Missense_Mutation_p.E44Q|KCNIP2_ENST00000370046.1_Missense_Mutation_p.E44Q|KCNIP2_ENST00000461105.1_Missense_Mutation_p.E109Q|KCNIP2_ENST00000343195.4_Missense_Mutation_p.E44Q	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	94	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		TGCAGCTGCTCCAGACCCTCA	0.617																																						uc001kub.2		NaN																	0					0						c.(280-282)GAG>CAG		Kv channel interacting protein 2 isoform 2							81.0	66.0	71.0					10																	103588900		2203	4300	6503	SO:0001583	missense	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding	g.chr10:103588900C>G		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.280G>C	10.37:g.103588900C>G	ENSP00000349055:p.Glu94Gln					KCNIP2_uc010qqg.1_5'Flank|KCNIP2_uc001ktx.2_RNA|KCNIP2_uc001kty.2_Missense_Mutation_p.W15C|KCNIP2_uc001ktz.2_Missense_Mutation_p.E49Q|KCNIP2_uc009xwu.2_Missense_Mutation_p.E44Q|KCNIP2_uc009xwv.2_Missense_Mutation_p.E44Q|KCNIP2_uc001kuc.2_Missense_Mutation_p.E109Q|KCNIP2_uc001kue.2_Missense_Mutation_p.E76Q|KCNIP2_uc001kud.2_Missense_Mutation_p.E44Q|KCNIP2_uc001kuf.2_Missense_Mutation_p.E44Q|KCNIP2_uc001kua.2_Missense_Mutation_p.W15C|KCNIP2_uc009xww.2_RNA|KCNIP2_uc010qqh.1_Missense_Mutation_p.E49Q|KCNIP2_uc010qqi.1_Missense_Mutation_p.E44Q	p.E94Q	NM_173191	NP_775283	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	4	632	-		Colorectal(252;0.122)	94			EF-hand 1; degenerate.		A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Missense_Mutation	SNP	ENST00000356640.2	37	c.280G>C	CCDS7522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.083932|4.083932	0.76642|0.76642	.|.	.|.	ENSG00000120049|ENSG00000120049	ENST00000348850;ENST00000358038;ENST00000370059;ENST00000356640;ENST00000370046;ENST00000353068;ENST00000461105;ENST00000343195;ENST00000239117|ENST00000359877;ENST00000434163	T;T;T;T;T;T;T;T|T	0.22134|0.70749	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97|-0.51	5.1|5.1	5.1|5.1	0.69264|0.69264	EF-hand-like domain (1);|.	0.183162|.	0.46145|.	D|.	0.000319|.	T|T	0.75606|0.75606	0.3872|0.3872	L|L	0.50993|0.50993	1.605|1.605	0.58432|0.58432	D|D	0.999997|0.999997	B;P;P;B;P;P;B;D;B;B|D;D	0.57257|0.61697	0.24;0.93;0.573;0.437;0.573;0.733;0.371;0.979;0.166;0.166|0.983;0.99	B;P;P;B;P;P;P;P;B;B|P;P	0.54238|0.53313	0.209;0.616;0.547;0.345;0.547;0.602;0.547;0.746;0.085;0.052|0.533;0.723	T|T	0.76391|0.76391	-0.2976|-0.2976	10|9	0.38643|0.45353	T|T	0.18|0.12	.|.	18.1289|18.1289	0.89595|0.89595	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	44;49;44;44;44;76;44;109;94;49|15;24	Q9NS61-9;B4DW99;Q9NS61-5;Q3YAC7;Q9NS61-3;Q9NS61-2;Q9NS61-7;Q9NS61-6;Q9NS61;Q3YAC6|B3KSZ5;Q9NS61-8	.;.;.;.;.;.;.;.;KCIP2_HUMAN;.|.;.	Q|C	49;76;76;94;44;44;109;44;44|15;24	ENSP00000239118:E49Q;ENSP00000350733:E76Q;ENSP00000349055:E94Q;ENSP00000359063:E44Q;ENSP00000341624:E44Q;ENSP00000420040:E109Q;ENSP00000344169:E44Q;ENSP00000239117:E44Q|ENSP00000411679:W24C	ENSP00000239117:E44Q|ENSP00000352940:W15C	E|W	-|-	1|3	0|0	KCNIP2|KCNIP2	103578890|103578890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	6.015000|6.015000	0.70791|0.70791	2.379000|2.379000	0.81126|0.81126	0.561000|0.561000	0.74099|0.74099	GAG|TGG		0.617	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1				10	28	0	0	0	1	0	10	28		
PPRC1	23082	broad.mit.edu	37	10	103900787	103900787	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:103900787C>T	ENST00000278070.2	+	5	2561	c.2522C>T	c.(2521-2523)tCa>tTa	p.S841L	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.S841L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	841	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCTGTGGCCTCATCTCCCACT	0.597																																						uc001kum.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2521-2523)TCA>TTA		peroxisome proliferator-activated receptor							137.0	116.0	123.0					10																	103900787		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103900787C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2522C>T	10.37:g.103900787C>T	ENSP00000278070:p.Ser841Leu					PPRC1_uc001kun.2_Missense_Mutation_p.S721L|PPRC1_uc010qqj.1_Missense_Mutation_p.S841L|PPRC1_uc009xxa.2_RNA	p.S841L	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2561	+		Colorectal(252;0.122)	841			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.2522C>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	8.140	0.784959	0.16189	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.27720	1.65;1.74	5.31	4.41	0.53225	.	0.659654	0.14010	N	0.347505	T	0.20455	0.0492	N	0.19112	0.55	0.20196	N	0.999922	B;B;B	0.33448	0.125;0.412;0.289	B;B;B	0.32583	0.041;0.148;0.07	T	0.14980	-1.0453	10	0.66056	D	0.02	.	8.9104	0.35550	0.1474:0.7765:0.0:0.076	.	841;721;841	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	L	841	ENSP00000278070:S841L;ENSP00000399743:S841L	ENSP00000278070:S841L	S	+	2	0	PPRC1	103890777	0.000000	0.05858	0.048000	0.18961	0.072000	0.16883	-0.337000	0.07852	1.382000	0.46385	0.561000	0.74099	TCA		0.597	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1		NM_015062		33	49	0	0	0	1	0	33	49		
SLK	9748	broad.mit.edu	37	10	105780291	105780291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:105780291C>T	ENST00000369755.3	+	17	3912	c.3367C>T	c.(3367-3369)Cag>Tag	p.Q1123*	SLK_ENST00000335753.4_Nonsense_Mutation_p.Q1092*	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1123					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAGAATGGCTCAGCATCAGAA	0.393																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1		NaN																	0				ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.(3367-3369)CAG>TAG		serine/threonine kinase 2							86.0	84.0	85.0					10																	105780291		2203	4300	6503	SO:0001587	stop_gained	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105780291C>T		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3367C>T	10.37:g.105780291C>T	ENSP00000358770:p.Gln1123*					SLK_uc001kxp.1_Nonsense_Mutation_p.Q1092*	p.Q1123*	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	17	3401	+		Colorectal(252;0.178)	1123			Potential.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Nonsense_Mutation	SNP	ENST00000369755.3	37	c.3367C>T	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	46	12.707238	0.99690	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.1138	0.93330	0.0:1.0:0.0:0.0	.	.	.	.	X	1092;1123	.	ENSP00000336824:Q1092X	Q	+	1	0	SLK	105770281	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.504000	0.84457	0.650000	0.86243	CAG		0.393	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1		NM_014720		12	46	0	0	0	1	0	12	46		
SLK	9748	broad.mit.edu	37	10	105780327	105780327	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:105780327C>A	ENST00000369755.3	+	17	3948	c.3403C>A	c.(3403-3405)Cag>Aag	p.Q1135K	SLK_ENST00000335753.4_Missense_Mutation_p.Q1104K	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1135					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCGAGATCTTCAGTTGCAGTG	0.453																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1		NaN																	0				ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.(3403-3405)CAG>AAG		serine/threonine kinase 2							88.0	85.0	86.0					10																	105780327		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105780327C>A		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3403C>A	10.37:g.105780327C>A	ENSP00000358770:p.Gln1135Lys					SLK_uc001kxp.1_Missense_Mutation_p.Q1104K	p.Q1135K	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	17	3437	+		Colorectal(252;0.178)	1135			Potential.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.3403C>A	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611365	0.66558	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.28069	1.63;1.63	5.37	5.37	0.77165	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	L	0.39633	1.23	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.80764	0.99;0.994	T	0.23797	-1.0178	10	0.30854	T	0.27	.	19.1138	0.93330	0.0:1.0:0.0:0.0	.	1104;1135	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	K	1104;1135	ENSP00000336824:Q1104K;ENSP00000358770:Q1135K	ENSP00000336824:Q1104K	Q	+	1	0	SLK	105770317	1.000000	0.71417	0.998000	0.56505	0.508000	0.34012	6.072000	0.71238	2.504000	0.84457	0.650000	0.86243	CAG		0.453	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1		NM_014720		15	56	1	0	3.41278e-10	1	3.55698e-10	15	56		
GFRA1	2674	broad.mit.edu	37	10	117884737	117884737	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:117884737G>C	ENST00000355422.6	-	6	1315	c.765C>G	c.(763-765)atC>atG	p.I255M	GFRA1_ENST00000369236.1_Missense_Mutation_p.I250M|GFRA1_ENST00000439649.3_Missense_Mutation_p.I250M|GFRA1_ENST00000544592.1_Missense_Mutation_p.I134M	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	255					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTTACCTGCAGATGTAATTCG	0.537																																					Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(763-765)ATC>ATG		GDNF family receptor alpha 1 isoform a							50.0	42.0	45.0					10																	117884737		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117884737G>C	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.765C>G	10.37:g.117884737G>C	ENSP00000347591:p.Ile255Met					GFRA1_uc001lci.2_Missense_Mutation_p.I250M|GFRA1_uc009xyr.2_Missense_Mutation_p.I250M	p.I255M	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	6	1463	-		Lung NSC(174;0.21)	255			3.		A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.765C>G	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.823022	0.71028	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.63096	-0.02;-0.02	5.93	5.93	0.95920	GDNF/GAS1 (2);	0.096846	0.64402	D	0.000001	T	0.78855	0.4349	M	0.74881	2.28	0.80722	D	1	D;D	0.62365	0.991;0.989	P;P	0.62089	0.898;0.822	T	0.78076	-0.2345	10	0.52906	T	0.07	-19.0884	20.3539	0.98825	0.0:0.0:1.0:0.0	.	255;250	P56159;P56159-2	GFRA1_HUMAN;.	M	255;250;250;134;250	ENSP00000358239:I250M;ENSP00000442179:I134M	ENSP00000347591:I250M	I	-	3	3	GFRA1	117874727	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.632000	0.61311	2.826000	0.97356	0.655000	0.94253	ATC		0.537	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2		NM_145793		16	26	0	0	0	1	0	16	26		
PDZD8	118987	broad.mit.edu	37	10	119134253	119134253	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:119134253G>A	ENST00000334464.5	-	1	725	c.486C>T	c.(484-486)ctC>ctT	p.L162L		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	162					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CTGGCCGCACGAGCCGGATGG	0.731																																						uc001lde.1		NaN																	0					0						c.(484-486)CTC>CTT		PDZ domain containing 8							11.0	14.0	13.0					10																	119134253		2176	4257	6433	SO:0001819	synonymous_variant	118987				intracellular signal transduction		metal ion binding	g.chr10:119134253G>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.486C>T	10.37:g.119134253G>A							p.L162L	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	1	685	-		Colorectal(252;0.19)	162					Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	ENST00000334464.5	37	c.486C>T	CCDS7600.1																																																																																				0.731	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1		NM_173791		4	17	0	0	0	1	0	4	17		
BCCIP	56647	broad.mit.edu	37	10	127512238	127512238	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:127512238G>A	ENST00000278100.6	+	1	124	c.112G>A	c.(112-114)Gac>Aac	p.D38N	BCCIP_ENST00000368759.5_Missense_Mutation_p.D38N|BCCIP_ENST00000429863.2_Missense_Mutation_p.D38N|BCCIP_ENST00000299130.3_Missense_Mutation_p.D38N|UROS_ENST00000368778.3_5'Flank|UROS_ENST00000368774.1_5'Flank|UROS_ENST00000368797.4_5'Flank	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	38					cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				tgaggatgaagacgatgatga	0.527																																						uc001ljb.3		NaN																	0				ovary(1)|breast(1)	2						c.(112-114)GAC>AAC		BRCA2 and CDKN1A-interacting protein isoform							193.0	166.0	175.0					10																	127512238		2203	4300	6503	SO:0001583	missense	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127512238G>A	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.112G>A	10.37:g.127512238G>A	ENSP00000278100:p.Asp38Asn					BCCIP_uc001ljd.3_Missense_Mutation_p.D38N|UROS_uc001lix.3_5'Flank|UROS_uc001liy.3_5'Flank|BCCIP_uc010qui.1_Missense_Mutation_p.D38N|BCCIP_uc001ljc.3_Missense_Mutation_p.D38N|BCCIP_uc010quj.1_Missense_Mutation_p.D38N	p.D38N	NM_078468	NP_510868	Q9P287	BCCIP_HUMAN			1	135	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	38					B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	37	c.112G>A	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198063	0.22037	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.51574	0.74;0.7;0.7;0.7	4.71	3.8	0.43715	.	1.656690	0.03474	N	0.214049	T	0.42988	0.1227	N	0.08118	0	0.09310	N	1	D;P;D;P;P	0.57257	0.964;0.734;0.979;0.827;0.598	P;B;P;P;B	0.53518	0.538;0.305;0.728;0.501;0.179	T	0.47724	-0.9095	10	0.40728	T	0.16	-35.0121	9.3082	0.37887	0.104:0.0:0.896:0.0	.	38;38;38;38;38	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	N	38	ENSP00000278100:D38N;ENSP00000299130:D38N;ENSP00000357748:D38N;ENSP00000394758:D38N	ENSP00000278100:D38N	D	+	1	0	BCCIP	127502228	0.707000	0.27866	0.080000	0.20451	0.034000	0.12701	2.276000	0.43408	2.170000	0.68504	0.561000	0.74099	GAC		0.527	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1				5	59	0	0	0	1	0	5	59		
BCCIP	56647	broad.mit.edu	37	10	127512271	127512271	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:127512271G>A	ENST00000278100.6	+	1	157	c.145G>A	c.(145-147)Gag>Aag	p.E49K	BCCIP_ENST00000368759.5_Missense_Mutation_p.E49K|BCCIP_ENST00000429863.2_Missense_Mutation_p.E49K|BCCIP_ENST00000299130.3_Missense_Mutation_p.E49K|UROS_ENST00000368778.3_5'Flank|UROS_ENST00000368774.1_5'Flank|UROS_ENST00000368797.4_5'Flank	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	49					cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				aaaggatgaagaggacgaggT	0.493																																						uc001ljb.3		NaN																	0				ovary(1)|breast(1)	2						c.(145-147)GAG>AAG		BRCA2 and CDKN1A-interacting protein isoform							198.0	169.0	179.0					10																	127512271		2203	4300	6503	SO:0001583	missense	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127512271G>A	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.145G>A	10.37:g.127512271G>A	ENSP00000278100:p.Glu49Lys					BCCIP_uc001ljd.3_Missense_Mutation_p.E49K|UROS_uc001lix.3_5'Flank|UROS_uc001liy.3_5'Flank|BCCIP_uc010qui.1_Missense_Mutation_p.E49K|BCCIP_uc001ljc.3_Missense_Mutation_p.E49K|BCCIP_uc010quj.1_Missense_Mutation_p.E49K	p.E49K	NM_078468	NP_510868	Q9P287	BCCIP_HUMAN			1	168	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	49					B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	37	c.145G>A	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	G	5.366	0.252725	0.10185	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.50277	0.75;0.75;0.76;0.77	4.26	3.36	0.38483	.	0.523653	0.20570	N	0.089744	T	0.25419	0.0618	N	0.08118	0	0.21740	N	0.99956	B;B;B;B;B	0.09022	0.001;0.001;0.002;0.002;0.001	B;B;B;B;B	0.11329	0.001;0.003;0.003;0.006;0.001	T	0.14254	-1.0479	10	0.39692	T	0.17	-26.1904	8.0413	0.30523	0.1113:0.0:0.8887:0.0	.	49;49;49;49;49	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	K	49	ENSP00000278100:E49K;ENSP00000299130:E49K;ENSP00000357748:E49K;ENSP00000394758:E49K	ENSP00000278100:E49K	E	+	1	0	BCCIP	127502261	0.969000	0.33509	0.107000	0.21349	0.006000	0.05464	3.158000	0.50723	1.019000	0.39547	-0.291000	0.09656	GAG		0.493	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1				10	53	0	0	0	1	0	10	53		
BCCIP	56647	broad.mit.edu	37	10	127512277	127512277	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:127512277G>A	ENST00000278100.6	+	1	163	c.151G>A	c.(151-153)Gag>Aag	p.E51K	BCCIP_ENST00000368759.5_Missense_Mutation_p.E51K|BCCIP_ENST00000429863.2_Missense_Mutation_p.E51K|BCCIP_ENST00000299130.3_Missense_Mutation_p.E51K|UROS_ENST00000368778.3_5'Flank|UROS_ENST00000368774.1_5'Flank|UROS_ENST00000368797.4_5'Flank	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	51					cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				tgaagaggacgaggTCATTGA	0.488																																						uc001ljb.3		NaN																	0				ovary(1)|breast(1)	2						c.(151-153)GAG>AAG		BRCA2 and CDKN1A-interacting protein isoform							200.0	170.0	180.0					10																	127512277		2203	4300	6503	SO:0001583	missense	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127512277G>A	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.151G>A	10.37:g.127512277G>A	ENSP00000278100:p.Glu51Lys					BCCIP_uc001ljd.3_Missense_Mutation_p.E51K|UROS_uc001lix.3_5'Flank|UROS_uc001liy.3_5'Flank|BCCIP_uc010qui.1_Missense_Mutation_p.E51K|BCCIP_uc001ljc.3_Missense_Mutation_p.E51K|BCCIP_uc010quj.1_Missense_Mutation_p.E51K	p.E51K	NM_078468	NP_510868	Q9P287	BCCIP_HUMAN			1	174	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	51					B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	37	c.151G>A	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904376	0.33628	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.50277	0.75;0.76;0.75;0.81	4.37	3.47	0.39725	.	0.116680	0.56097	N	0.000031	T	0.27933	0.0688	N	0.08118	0	0.26481	N	0.975118	P;P;D;P;P	0.54047	0.897;0.897;0.964;0.938;0.824	B;B;B;B;B	0.44044	0.141;0.141;0.439;0.273;0.1	T	0.09400	-1.0676	10	0.59425	D	0.04	-8.7491	8.3565	0.32333	0.1068:0.0:0.8932:0.0	.	51;51;51;51;51	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	K	51	ENSP00000278100:E51K;ENSP00000299130:E51K;ENSP00000357748:E51K;ENSP00000394758:E51K	ENSP00000278100:E51K	E	+	1	0	BCCIP	127502267	1.000000	0.71417	0.192000	0.23308	0.003000	0.03518	1.978000	0.40598	1.080000	0.41073	-0.221000	0.12465	GAG		0.488	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1				9	52	0	0	0	1	0	9	52		
DUSP8	1850	broad.mit.edu	37	11	1586886	1586886	+	Silent	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:1586886C>G	ENST00000397374.3	-	2	298	c.171G>C	c.(169-171)cgG>cgC	p.R57R	DUSP8_ENST00000331588.4_Silent_p.R57R	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	57	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GCTGCAGCCGCCGCTTCACCA	0.647																																						uc001lts.2		NaN																	0					0						c.(169-171)CGG>CGC		dual specificity phosphatase 8							40.0	38.0	39.0					11																	1586886		2199	4289	6488	SO:0001819	synonymous_variant	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1586886C>G		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.171G>C	11.37:g.1586886C>G							p.R57R	NM_004420	NP_004411	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	2	299	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	57			Rhodanese.		Q86SS8	Silent	SNP	ENST00000397374.3	37	c.171G>C	CCDS7724.1																																																																																				0.647	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3		NM_004420		18	42	0	0	0	1	0	18	42		
UBQLNL	143630	broad.mit.edu	37	11	5537271	5537271	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:5537271C>G	ENST00000380184.1	-	1	664	c.401G>C	c.(400-402)aGa>aCa	p.R134T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	134								p.R134T(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TTGGTGCACTCTGCTGCTGTT	0.537																																						uc001maz.3		NaN																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(1)	3						c.(400-402)AGA>ACA		ubiquilin-like							224.0	218.0	220.0					11																	5537271		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5537271C>G	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.401G>C	11.37:g.5537271C>G	ENSP00000369531:p.Arg134Thr					HBG2_uc001mak.1_Intron	p.R134T	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	686	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	134					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.401G>C	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.801555	0.00075	.	.	ENSG00000175518	ENST00000380184	T	0.44083	0.93	4.87	-0.954	0.10359	.	0.753414	0.11320	N	0.576128	T	0.13457	0.0326	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	10	0.35671	T	0.21	.	1.6277	0.02726	0.148:0.37:0.2893:0.1926	.	134	Q8IYU4	UBQLN_HUMAN	T	134	ENSP00000369531:R134T	ENSP00000369531:R134T	R	-	2	0	UBQLNL	5493847	0.014000	0.17966	0.016000	0.15963	0.048000	0.14542	0.120000	0.15647	-0.351000	0.08249	-0.165000	0.13383	AGA		0.537	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1		NM_145053		17	55	0	0	0	1	0	17	55		
OR52E4	390081	broad.mit.edu	37	11	5905783	5905783	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:5905783C>G	ENST00000316987.2	+	1	283	c.261C>G	c.(259-261)ttC>ttG	p.F87L		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGAATCTTCTGGTTCAACC	0.458																																						uc010qzs.1		NaN																	0				ovary(2)	2						c.(259-261)TTC>TTG		olfactory receptor, family 52, subfamily E,							124.0	109.0	114.0					11																	5905783		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905783C>G	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.261C>G	11.37:g.5905783C>G	ENSP00000321426:p.Phe87Leu					TRIM5_uc001mbq.1_Intron	p.F87L	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	261	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	87			Extracellular (Potential).		Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.261C>G	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097646	0.37048	.	.	ENSG00000180974	ENST00000316987	T	0.00012	9.31	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000069	T	0.00109	0.0003	L	0.34521	1.04	0.31531	N	0.661196	B	0.15473	0.013	B	0.23150	0.044	T	0.56232	-0.8013	10	0.46703	T	0.11	.	17.0995	0.86645	0.0:1.0:0.0:0.0	.	87	Q8NGH9	O52E4_HUMAN	L	87	ENSP00000321426:F87L	ENSP00000321426:F87L	F	+	3	2	OR52E4	5862359	0.000000	0.05858	1.000000	0.80357	0.880000	0.50808	-0.375000	0.07475	2.607000	0.88179	0.643000	0.83706	TTC		0.458	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1		NM_001005165		40	106	0	0	0	1	0	40	106		
PIK3C2A	5286	broad.mit.edu	37	11	17112890	17112890	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:17112890G>A	ENST00000265970.7	-	31	4868	c.4869C>T	c.(4867-4869)ttC>ttT	p.F1623F	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Silent_p.F1243F	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1623	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CCATTTCATTGAATGTCGGAT	0.328																																						uc001mmq.3		NaN																	0				lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(4867-4869)TTC>TTT		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						206.0	196.0	200.0					11																	17112890		2200	4294	6494	SO:0001819	synonymous_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17112890G>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4869C>T	11.37:g.17112890G>A						PIK3C2A_uc009ygu.1_Silent_p.F226F|PIK3C2A_uc010rcw.1_Silent_p.F1243F|PIK3C2A_uc001mmr.3_Intron	p.F1623F	NM_002645	NP_002636	O00443	P3C2A_HUMAN			31	4935	-			1623			C2.		B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	c.4869C>T	CCDS7824.1																																																																																				0.328	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1		NM_002645		18	57	0	0	0	1	0	18	57		
NELL1	4745	broad.mit.edu	37	11	21581919	21581919	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:21581919C>T	ENST00000357134.5	+	17	2123	c.1971C>T	c.(1969-1971)tgC>tgT	p.C657C	NELL1_ENST00000529218.1_Intron|NELL1_ENST00000325319.5_Silent_p.C600C|NELL1_ENST00000298925.5_Silent_p.C685C|NELL1_ENST00000532434.1_Silent_p.C610C	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	657					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTTCTGTCTGCTCCTGCAAGG	0.542																																						uc001mqe.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(1969-1971)TGC>TGT		nel-like 1 isoform 1 precursor							65.0	58.0	60.0					11																	21581919		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21581919C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1971C>T	11.37:g.21581919C>T						NELL1_uc001mqf.2_Silent_p.C610C|NELL1_uc009yid.2_Silent_p.C685C|NELL1_uc010rdo.1_Silent_p.C600C|NELL1_uc010rdp.1_Silent_p.C370C|NELL1_uc001mqh.2_Intron	p.C657C	NM_006157	NP_006148	Q92832	NELL1_HUMAN			17	2124	+			657			VWFC 3.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.1971C>T	CCDS7855.1																																																																																				0.542	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1		NM_006157		14	20	0	0	0	1	0	14	20		
KIF18A	81930	broad.mit.edu	37	11	28104452	28104452	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:28104452C>T	ENST00000263181.6	-	9	1503	c.1213G>A	c.(1213-1215)Gac>Aac	p.D405N		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	405					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTTGCTTGGTCATTTTCATTA	0.264																																						uc001msc.2		NaN																	0				ovary(2)	2						c.(1213-1215)GAC>AAC		kinesin family member 18A							91.0	91.0	91.0					11																	28104452		2198	4292	6490	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28104452C>T	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1213G>A	11.37:g.28104452C>T	ENSP00000263181:p.Asp405Asn						p.D405N	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN			9	1395	-			405			Potential.		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.1213G>A	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	C	0.665	-0.804012	0.02819	.	.	ENSG00000121621	ENST00000263181	T	0.72835	-0.69	5.33	3.17	0.36434	.	0.880403	0.10195	N	0.704134	T	0.47728	0.1461	N	0.12182	0.205	0.21719	N	0.999579	B	0.02656	0.0	B	0.01281	0.0	T	0.31475	-0.9942	10	0.17832	T	0.49	.	5.0163	0.14337	0.0:0.1672:0.5648:0.2679	.	405	Q8NI77	KI18A_HUMAN	N	405	ENSP00000263181:D405N	ENSP00000263181:D405N	D	-	1	0	KIF18A	28061028	0.001000	0.12720	0.228000	0.23943	0.081000	0.17604	0.436000	0.21526	0.554000	0.29061	0.650000	0.86243	GAC		0.264	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3		NM_031217		4	34	0	0	0	1	0	4	34		
TTC17	55761	broad.mit.edu	37	11	43380573	43380573	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:43380573C>T	ENST00000039989.4	+	1	83	c.69C>T	c.(67-69)ctC>ctT	p.L23L	TTC17_ENST00000299240.6_Silent_p.L23L|RP11-484D2.2_ENST00000526220.1_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	23					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GCTGGCTCCTCAGCCTTTCCG	0.711																																						uc001mxi.2		NaN																	0				ovary(5)	5						c.(67-69)CTC>CTT		tetratricopeptide repeat domain 17							11.0	14.0	13.0					11																	43380573		2182	4280	6462	SO:0001819	synonymous_variant	55761						binding	g.chr11:43380573C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.69C>T	11.37:g.43380573C>T						TTC17_uc001mxh.2_Silent_p.L23L	p.L23L	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			1	83	+			23					G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	c.69C>T	CCDS31466.1																																																																																				0.711	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2		NM_018259		4	7	0	0	0	1	0	4	7		
OR4B1	119765	broad.mit.edu	37	11	48238743	48238743	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:48238743C>G	ENST00000309562.2	+	1	400	c.382C>G	c.(382-384)Ctt>Gtt	p.L128V		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTGCAAGCCTCTTCATTATAT	0.453																																						uc010rhs.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(382-384)CTT>GTT		olfactory receptor, family 4, subfamily B,							121.0	116.0	118.0					11																	48238743		2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238743C>G	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.382C>G	11.37:g.48238743C>G	ENSP00000311605:p.Leu128Val						p.L128V	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			1	382	+			128			Cytoplasmic (Potential).		Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.382C>G	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485080	0.63962	.	.	ENSG00000175619	ENST00000309562	T	0.01484	4.84	5.38	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000599	T	0.17492	0.0420	H	0.97564	4.03	0.33315	D	0.566625	D	0.76494	0.999	D	0.85130	0.997	T	0.50406	-0.8832	10	0.87932	D	0	.	11.7324	0.51746	0.0:0.9139:0.0:0.0861	.	128	Q8NGF8	OR4B1_HUMAN	V	128	ENSP00000311605:L128V	ENSP00000311605:L128V	L	+	1	0	OR4B1	48195319	0.462000	0.25791	0.371000	0.25978	0.935000	0.57460	1.043000	0.30316	1.256000	0.44068	0.494000	0.49563	CTT		0.453	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1		NM_001005470		41	87	0	0	0	1	0	41	87		
OR4C6	219432	broad.mit.edu	37	11	55433227	55433227	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:55433227C>T	ENST00000314259.3	+	1	614	c.585C>T	c.(583-585)ctC>ctT	p.L195L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCCTGGGCCTCTTAGTTACCC	0.443																																						uc001nht.3		NaN																	0				skin(2)	2						c.(583-585)CTC>CTT		olfactory receptor, family 4, subfamily C,							137.0	121.0	127.0					11																	55433227		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433227C>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.585C>T	11.37:g.55433227C>T						OR4C6_uc010rik.1_Silent_p.L195L	p.L195L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	850	+			195			Helical; Name=5; (Potential).		B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.585C>T	CCDS31506.1																																																																																				0.443	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1		NM_001004704		35	78	0	0	0	1	0	35	78		
MS4A7	58475	broad.mit.edu	37	11	60154219	60154219	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:60154219C>T	ENST00000300184.3	+	4	508	c.312C>T	c.(310-312)atC>atT	p.I104I	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Silent_p.I59I|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000534016.1_Silent_p.I59I	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	104						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TCTCAATTATCTCTGGAAAAC	0.403																																						uc001npe.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(310-312)ATC>ATT		membrane-spanning 4-domains, subfamily A, member							163.0	147.0	152.0					11																	60154219		2203	4300	6503	SO:0001819	synonymous_variant	58475					integral to membrane	receptor activity	g.chr11:60154219C>T	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.312C>T	11.37:g.60154219C>T						MS4A7_uc001npf.2_Silent_p.I104I|MS4A7_uc001npg.2_Silent_p.I59I|MS4A7_uc001nph.2_Silent_p.I59I|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Silent_p.I59I	p.I104I	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN			4	457	+			104			Helical; (Potential).		A6NP53|Q6IAG8	Silent	SNP	ENST00000300184.3	37	c.312C>T	CCDS7985.1																																																																																				0.403	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1				24	55	0	0	0	1	0	24	55		
EML3	256364	broad.mit.edu	37	11	62378910	62378910	+	Missense_Mutation	SNP	G	G	A	rs199907407		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:62378910G>A	ENST00000394773.2	-	2	488	c.181C>T	c.(181-183)Cct>Tct	p.P61S	EML3_ENST00000494176.2_Missense_Mutation_p.P32S|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000278845.4_Missense_Mutation_p.P61S|ROM1_ENST00000534093.1_5'Flank|ROM1_ENST00000278833.3_5'Flank|EML3_ENST00000529309.1_Missense_Mutation_p.P61S	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	61						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCCCCGGAGGAGCTGGTGTG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		17919	0.0		0.001	False		,,,				2504	0.0					uc001ntu.1		NaN																	0				ovary(1)	1						c.(181-183)CCT>TCT		echinoderm microtubule associated protein like		G	SER/PRO	0,4404		0,0,2202	40.0	46.0	44.0		181	0.8	0.0	11		44	1,8597	1.2+/-3.3	0,1,4298	yes	missense	EML3	NM_153265.2	74	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	61/897	62378910	1,13001	2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62378910G>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.181C>T	11.37:g.62378910G>A	ENSP00000378254:p.Pro61Ser					EML3_uc001ntr.1_Missense_Mutation_p.P32S|EML3_uc001nts.1_Missense_Mutation_p.P32S|EML3_uc001ntt.1_5'UTR|EML3_uc010rly.1_Missense_Mutation_p.P61S|EML3_uc009yny.1_5'Flank|ROM1_uc001ntv.2_5'Flank	p.P61S	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN			2	489	-			61					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.181C>T	CCDS8023.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	1.718|1.718	-0.497376|-0.497376	0.04291|0.04291	0.0|0.0	1.16E-4|1.16E-4	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000494176;ENST00000529309;ENST00000466886;ENST00000466671;ENST00000419857|ENST00000394776	T;T;T;T|.	0.30714|.	1.83;1.81;1.52;1.73|.	3.88|3.88	0.839|0.839	0.18907|0.18907	.|.	1.498160|.	0.04768|.	N|.	0.427580|.	T|T	0.19087|0.19087	0.0458|0.0458	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.13594|.	0.007;0.008;0.0;0.001|.	B;B;B;B|.	0.14578|.	0.003;0.011;0.001;0.003|.	T|T	0.26018|0.26018	-1.0115|-1.0115	10|5	0.38643|.	T|.	0.18|.	-2.5109|-2.5109	5.4763|5.4763	0.16697|0.16697	0.1151:0.4076:0.4772:0.0|0.1151:0.4076:0.4772:0.0	.|.	61;61;61;32|.	Q32P44-2;Q32P44;B7WPE2;G3V1D0|.	.;EMAL3_HUMAN;.;.|.	S|F	61;61;32;61;32;32;32|54	ENSP00000378254:P61S;ENSP00000278845:P61S;ENSP00000435064:P32S;ENSP00000434513:P61S|.	ENSP00000278845:P61S|.	P|S	-|-	1|2	0|0	EML3|EML3	62135486|62135486	0.060000|0.060000	0.20803|0.20803	0.015000|0.015000	0.15790|0.15790	0.253000|0.253000	0.25986|0.25986	1.039000|1.039000	0.30266|0.30266	0.396000|0.396000	0.25283|0.25283	-0.502000|-0.502000	0.04539|0.04539	CCT|TCC		0.602	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1		NM_153265		8	30	0	0	0	1	0	8	30		
ATG2A	23130	broad.mit.edu	37	11	64670063	64670063	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:64670063G>C	ENST00000377264.3	-	27	3814	c.3702C>G	c.(3700-3702)ctC>ctG	p.L1234L	ATG2A_ENST00000421419.2_Silent_p.L1234L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1234					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TTACGTACTGGAGCAGGTTGA	0.652																																						uc001obx.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3700-3702)CTC>CTG		autophagy related 2A							24.0	20.0	22.0					11																	64670063		2199	4296	6495	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64670063G>C		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.3702C>G	11.37:g.64670063G>C						ATG2A_uc001obw.2_5'UTR	p.L1234L	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			27	3817	-			1234					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.3702C>G	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	8.648	0.897552	0.17686	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.25	-7.74	0.01241	.	.	.	.	.	T	0.72811	0.3507	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75107	-0.3434	4	.	.	.	.	22.0981	0.99966	0.0:0.8437:0.1563:0.0	.	.	.	.	A	1036	.	.	P	-	1	0	ATG2A	64426639	0.186000	0.23225	0.942000	0.38095	0.934000	0.57294	-0.657000	0.05335	-1.209000	0.02631	-0.304000	0.09214	CCA		0.652	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1		NM_015104		4	10	0	0	0	1	0	4	10		
ADRBK1	156	broad.mit.edu	37	11	67052909	67052909	+	Silent	SNP	C	C	T	rs144172325		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:67052909C>T	ENST00000308595.5	+	21	2348	c.2058C>T	c.(2056-2058)gcC>gcT	p.A686A	ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	686					activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCGGCAGTGCCAACGGCCTCT	0.542																																						uc009yrn.1		NaN																	0				large_intestine(1)	1						c.(2056-2058)GCC>GCT		beta-adrenergic receptor kinase 1	Adenosine triphosphate(DB00171)	C		0,4374		0,0,2187	15.0	17.0	16.0		2058	3.2	1.0	11	dbSNP_134	16	1,8547		0,1,4273	no	coding-synonymous	ADRBK1	NM_001619.3		0,1,6460	TT,TC,CC		0.0117,0.0,0.0077		686/690	67052909	1,12921	2187	4274	6461	SO:0001819	synonymous_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67052909C>T	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.2058C>T	11.37:g.67052909C>T						ADRBK1_uc009yrm.1_Intron	p.A686A	NM_001619	NP_001610	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		21	2324	+			686					B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	c.2058C>T	CCDS8156.1																																																																																				0.542	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1		NM_001619		7	16	0	0	0	1	0	7	16		
C11orf24	53838	broad.mit.edu	37	11	68029775	68029775	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:68029775G>A	ENST00000304271.6	-	4	1090	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	C11orf24_ENST00000533310.1_Intron|C11orf24_ENST00000530166.1_5'Flank	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	230	Pro-rich.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GGACTTGGACGAGTGCTCATG	0.587																																					NSCLC(21;855 905 4198 36694)	uc001onr.3		NaN																	0					0						c.(688-690)CGT>TGT		hypothetical protein LOC53838 precursor							108.0	103.0	105.0					11																	68029775		2200	4294	6494	SO:0001583	missense	53838					integral to membrane		g.chr11:68029775G>A	AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.688C>T	11.37:g.68029775G>A	ENSP00000307264:p.Arg230Cys					C11orf24_uc001ons.2_Missense_Mutation_p.R230C	p.R230C	NM_022338	NP_071733	Q96F05	CK024_HUMAN			4	1130	-			230			Extracellular (Potential).|Pro-rich.		Q9H2K4	Missense_Mutation	SNP	ENST00000304271.6	37	c.688C>T	CCDS8180.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233322	0.58886	.	.	ENSG00000171067	ENST00000304271	T	0.31769	1.48	4.73	4.73	0.59995	.	.	.	.	.	T	0.38188	0.1031	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	P	0.59487	0.858	T	0.28554	-1.0040	9	0.54805	T	0.06	.	16.6433	0.85138	0.0:0.0:1.0:0.0	.	230	Q96F05	CK024_HUMAN	C	230	ENSP00000307264:R230C	ENSP00000307264:R230C	R	-	1	0	C11orf24	67786351	0.086000	0.21541	0.037000	0.18230	0.039000	0.13416	1.703000	0.37846	2.322000	0.78497	0.460000	0.39030	CGT		0.587	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1		NM_022338		20	60	0	0	0	1	0	20	60		
MRGPRF	116535	broad.mit.edu	37	11	68773667	68773667	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:68773667C>T	ENST00000309099.6	-	3	493	c.111G>A	c.(109-111)caG>caA	p.Q37Q	RP11-554A11.5_ENST00000562506.1_RNA|MRGPRF_ENST00000441623.1_Silent_p.Q37Q	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	37						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCATCGCGATCTGCTCGATGG	0.642																																						uc001ooo.3		NaN																	0					0						c.(109-111)CAG>CAA		MAS-related GPR, member F							39.0	46.0	43.0					11																	68773667		2200	4294	6494	SO:0001819	synonymous_variant	116535					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68773667C>T	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.111G>A	11.37:g.68773667C>T						MRGPRF_uc001oop.3_Silent_p.Q37Q	p.Q37Q	NM_001098515	NP_001091985	Q96AM1	MRGRF_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	478	-			37			Extracellular (Potential).		B3KV43|Q8NBK8	Silent	SNP	ENST00000309099.6	37	c.111G>A	CCDS8188.1																																																																																				0.642	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1		NM_145015		11	31	0	0	0	1	0	11	31		
PRKRIR	5612	broad.mit.edu	37	11	76066699	76066699	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:76066699C>G	ENST00000260045.3	-	4	424		c.e4-1		PRKRIR_ENST00000531878.1_Splice_Site	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)						negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CATCTTCACTCTAAATGTCAA	0.323																																						uc001oxh.1		NaN																	0				ovary(2)|pancreas(1)	3						c.e4-1		protein-kinase, interferon-inducible double							121.0	111.0	114.0					11																	76066699		2196	4290	6486	SO:0001630	splice_region_variant	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76066699C>G	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.319-1G>C	11.37:g.76066699C>G						PRKRIR_uc010rrz.1_5'UTR	p.S107_splice	NM_004705	NP_004696	O43422	P52K_HUMAN			4	319	-								A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Splice_Site	SNP	ENST00000260045.3	37	c.319_splice	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996259	0.54147	.	.	ENSG00000137492	ENST00000260045	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0749	0.53638	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKRIR	75744347	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.600000	0.61083	2.576000	0.86940	0.655000	0.94253	.		0.323	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1		NM_004705	Intron	3	8	0	0	0	1	0	3	8		
CAPN5	726	broad.mit.edu	37	11	76795973	76795973	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:76795973C>T	ENST00000278559.3	+	2	230	c.41C>T	c.(40-42)tCa>tTa	p.S14L	CAPN5_ENST00000456580.2_Missense_Mutation_p.S14L|CAPN5_ENST00000531028.1_Missense_Mutation_p.S14L|CAPN5_ENST00000529629.1_Missense_Mutation_p.S14L	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	14					proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CAGAACTACTCAGCCCTGAGG	0.637																																						uc001oxx.2		NaN																	0					0						c.(40-42)TCA>TTA		calpain 5							53.0	54.0	53.0					11																	76795973		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76795973C>T		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.41C>T	11.37:g.76795973C>T	ENSP00000278559:p.Ser14Leu					CAPN5_uc009yup.2_Missense_Mutation_p.S14L|CAPN5_uc009yuq.2_Missense_Mutation_p.S50L|CAPN5_uc001oxy.2_Missense_Mutation_p.S54L	p.S14L	NM_004055	NP_004046	O15484	CAN5_HUMAN			2	226	+			14					O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.41C>T	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	C	0.154	-1.088092	0.01873	.	.	ENSG00000149260	ENST00000278559;ENST00000527066;ENST00000530987;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.18	0.981	0.19756	Peptidase C2, calpain, catalytic domain (1);	0.291361	0.33382	N	0.004964	T	0.26484	0.0647	L	0.31926	0.97	0.09310	N	0.999997	B;B;B;B	0.30021	0.265;0.0;0.044;0.038	B;B;B;B	0.24541	0.054;0.001;0.028;0.033	T	0.05767	-1.0865	10	0.31617	T	0.26	.	2.5441	0.04733	0.2264:0.4965:0.1211:0.156	.	52;14;54;14	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	L	14;14;14;54;14;14;14	ENSP00000278559:S14L;ENSP00000435894:S14L;ENSP00000432332:S14L;ENSP00000409996:S14L	ENSP00000278559:S14L	S	+	2	0	CAPN5	76473621	0.000000	0.05858	0.483000	0.27378	0.056000	0.15407	0.725000	0.25970	0.591000	0.29711	-0.794000	0.03295	TCA		0.637	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2		NM_004055		11	31	0	0	0	1	0	11	31		
EED	8726	broad.mit.edu	37	11	85977176	85977176	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:85977176C>T	ENST00000263360.6	+	8	1464	c.778C>T	c.(778-780)Ctt>Ttt	p.L260F	EED_ENST00000351625.6_Missense_Mutation_p.L260F|EED_ENST00000327320.4_Missense_Mutation_p.L260F|EED_ENST00000528180.1_Intron	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	260	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GGATCATTCTCTTAAACTTTG	0.289																																						uc001pbp.2		NaN																	0				skin(1)|pancreas(1)	2						c.(778-780)CTT>TTT		embryonic ectoderm development isoform a							89.0	100.0	96.0					11																	85977176		2201	4286	6487	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85977176C>T	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.778C>T	11.37:g.85977176C>T	ENSP00000263360:p.Leu260Phe					EED_uc010rtm.1_Missense_Mutation_p.L260F|EED_uc001pbq.2_Missense_Mutation_p.L260F|EED_uc001pbr.2_Missense_Mutation_p.L260F|EED_uc001pbs.2_Intron|EED_uc010rtn.1_RNA	p.L260F	NM_003797	NP_003788	O75530	EED_HUMAN			8	1235	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	260			Interaction with EZH2 (By similarity).|WD 4.|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.778C>T	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258585	0.80246	.	.	ENSG00000074266	ENST00000263360;ENST00000351625;ENST00000327320;ENST00000533228;ENST00000534564	T;T;T	0.62498	1.32;1.32;0.02	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77136	0.4086	L	0.58302	1.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.992	T	0.74914	-0.3502	9	.	.	.	-11.2427	19.4599	0.94912	0.0:1.0:0.0:0.0	.	260;260;260	O75530-3;O75530-2;O75530	.;.;EED_HUMAN	F	260;260;260;53;9	ENSP00000263360:L260F;ENSP00000338186:L260F;ENSP00000315587:L260F	.	L	+	1	0	EED	85654824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.758000	0.62220	2.671000	0.90904	0.563000	0.77884	CTT		0.289	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1		NM_003797		53	101	0	0	0	1	0	53	101		
MAML2	84441	broad.mit.edu	37	11	96074933	96074933	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:96074933G>C	ENST00000524717.1	-	1	1411	c.127C>G	c.(127-129)Cgg>Ggg	p.R43G	MIR1260B_ENST00000582890.1_RNA	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	43					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ACAGCGATCCGAGCCCGGAGG	0.657			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pfw.1		NaN		Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	0				salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(127-129)CGG>GGG		mastermind-like 2							18.0	20.0	19.0					11																	96074933		2049	4202	6251	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:96074933G>C	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.127C>G	11.37:g.96074933G>C	ENSP00000434552:p.Arg43Gly		OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1317		p.R43G	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			1	1412	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	43					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.127C>G	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455368	0.63401	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	D;D	0.83992	-1.79;-1.79	4.78	4.78	0.61160	Neurogenic mastermind-like, N-terminal (1);	.	.	.	.	D	0.89097	0.6618	L	0.55990	1.75	0.44462	D	0.997399	D	0.89917	1.0	D	0.91635	0.999	D	0.90398	0.4400	9	0.87932	D	0	.	16.6146	0.84903	0.0:0.0:1.0:0.0	.	43	Q8IZL2	MAML2_HUMAN	G	43	ENSP00000434552:R43G;ENSP00000412394:R43G	ENSP00000412394:R43G	R	-	1	2	MAML2	95714581	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.782000	0.85680	2.225000	0.72522	0.561000	0.74099	CGG		0.657	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1				6	9	0	0	0	1	0	6	9		
MAML2	84441	broad.mit.edu	37	11	96074994	96074994	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:96074994G>C	ENST00000524717.1	-	1	1350	c.66C>G	c.(64-66)ctC>ctG	p.L22L	MIR1260B_ENST00000582890.1_RNA	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	22					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCCCTCCAAGGAGCCCCGCCC	0.682			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pfw.1		NaN		Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	0				salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(64-66)CTC>CTG		mastermind-like 2							7.0	8.0	8.0					11																	96074994		1826	4040	5866	SO:0001819	synonymous_variant	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:96074994G>C	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.66C>G	11.37:g.96074994G>C			OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1317		p.L22L	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			1	1351	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	22					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	c.66C>G	CCDS44714.1																																																																																				0.682	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1				3	3	0	0	0	1	0	3	3		
YAP1	10413	broad.mit.edu	37	11	102098267	102098267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:102098267C>T	ENST00000282441.5	+	8	1619	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	YAP1_ENST00000345877.2_Nonsense_Mutation_p.R361*|YAP1_ENST00000524575.1_Nonsense_Mutation_p.R233*|YAP1_ENST00000528834.1_3'UTR|RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000531439.1_Nonsense_Mutation_p.R395*|YAP1_ENST00000537274.1_Nonsense_Mutation_p.R399*|YAP1_ENST00000526343.1_Nonsense_Mutation_p.R357*	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	411	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		CAGTGTCCCTCGAACCCCAGA	0.433																																					Colon(50;247 1103 7861 28956)	uc001pgt.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1231-1233)CGA>TGA		Yes-associated protein 1, 65kDa isoform 1							189.0	140.0	156.0					11																	102098267		2203	4299	6502	SO:0001587	stop_gained	10413				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:102098267C>T		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.1231C>T	11.37:g.102098267C>T	ENSP00000282441:p.Arg411*					YAP1_uc001pgs.2_Nonsense_Mutation_p.R361*|YAP1_uc001pgu.2_Nonsense_Mutation_p.R395*|YAP1_uc001pgv.2_Nonsense_Mutation_p.R357*|YAP1_uc010ruo.1_Nonsense_Mutation_p.R233*|YAP1_uc001pgw.2_Nonsense_Mutation_p.R235*|YAP1_uc010rup.1_Nonsense_Mutation_p.R176*	p.R411*	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	8	1601	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	411			Transactivation domain.		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Nonsense_Mutation	SNP	ENST00000282441.5	37	c.1231C>T	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	C	40	8.170282	0.98688	.	.	ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575	.	.	.	5.31	4.32	0.51571	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	12.7265	0.57174	0.2857:0.7143:0.0:0.0	.	.	.	.	X	357;411;399;361;328;395;233	.	ENSP00000282441:R411X	R	+	1	2	YAP1	101603477	1.000000	0.71417	0.987000	0.45799	0.748000	0.42578	3.853000	0.55941	2.492000	0.84095	0.650000	0.86243	CGA		0.433	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1		NM_006106		8	17	0	0	0	1	0	8	17		
LAYN	143903	broad.mit.edu	37	11	111430885	111430885	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:111430885G>A	ENST00000375615.3	+	8	1036	c.851G>A	c.(850-852)gGa>gAa	p.G284E	LAYN_ENST00000525126.1_3'UTR|LAYN_ENST00000375614.2_Missense_Mutation_p.G276E|LAYN_ENST00000436913.2_Missense_Mutation_p.G131E|LAYN_ENST00000533265.1_3'UTR	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	284						cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	CCTCACCAGGGAAACAGCCCG	0.498																																					Ovarian(17;551 586 12136 22082 22900)	uc001plr.1		NaN																	0					0						c.(850-852)GGA>GAA		layilin							69.0	72.0	71.0					11																	111430885		2201	4297	6498	SO:0001583	missense	143903					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding	g.chr11:111430885G>A		CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.851G>A	11.37:g.111430885G>A	ENSP00000364765:p.Gly284Glu					LAYN_uc001plp.1_Missense_Mutation_p.G276E|LAYN_uc001plq.1_3'UTR|LAYN_uc001pls.1_3'UTR|LAYN_uc010rwg.1_Missense_Mutation_p.G131E|LAYN_uc010rwh.1_Missense_Mutation_p.G132E	p.G284E	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	8	1187	+		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)	284			Cytoplasmic (Potential).		A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Missense_Mutation	SNP	ENST00000375615.3	37	c.851G>A	CCDS58178.1	.	.	.	.	.	.	.	.	.	.	G	1.523	-0.546447	0.04024	.	.	ENSG00000204381	ENST00000375614;ENST00000375615;ENST00000436913;ENST00000541011	T;T	0.04454	4.04;3.62	5.5	-1.72	0.08107	.	1.004250	0.08007	N	0.989680	T	0.03095	0.0091	N	0.13043	0.29	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.0;0.003	T	0.48139	-0.9061	10	0.09338	T	0.73	-2.637	12.4774	0.55823	0.1886:0.0:0.8114:0.0	.	131;284;276	B4DJU0;Q6UX15;Q6UX15-2	.;LAYN_HUMAN;.	E	276;284;131;239	ENSP00000364764:G276E;ENSP00000364765:G284E	ENSP00000364764:G276E	G	+	2	0	LAYN	110936095	0.979000	0.34478	0.001000	0.08648	0.139000	0.21198	0.821000	0.27338	-0.483000	0.06772	-1.202000	0.01658	GGA		0.498	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1		NM_178834		13	48	0	0	0	1	0	13	48		
OR10S1	219873	broad.mit.edu	37	11	123847570	123847570	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:123847570G>A	ENST00000531945.1	-	1	918	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCACTGGAGCGAGGCTGCAGG	0.592																																						uc001pzm.1		NaN																	0				ovary(1)|skin(1)	2						c.(829-831)CGC>TGC		olfactory receptor, family 10, subfamily S,							77.0	80.0	79.0					11																	123847570		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847570G>A	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.829C>T	11.37:g.123847570G>A	ENSP00000431914:p.Arg277Cys						p.R277C	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	829	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	277			Extracellular (Potential).		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.829C>T	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569921	0.45798	.	.	ENSG00000196248	ENST00000531945	T	0.00164	8.64	4.85	-3.1	0.05315	GPCR, rhodopsin-like superfamily (1);	0.694439	0.11826	U	0.525728	T	0.00109	0.0003	L	0.47716	1.5	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.39313	-0.9620	10	0.52906	T	0.07	-3.2986	0.7418	0.00975	0.1843:0.2117:0.2636:0.3404	.	277	Q8NGN2	O10S1_HUMAN	C	277	ENSP00000431914:R277C	ENSP00000431914:R277C	R	-	1	0	OR10S1	123352780	0.000000	0.05858	0.005000	0.12908	0.875000	0.50365	-3.772000	0.00370	-0.904000	0.03876	0.655000	0.94253	CGC		0.592	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2		NM_001004474		30	72	0	0	0	1	0	30	72		
KIRREL3	84623	broad.mit.edu	37	11	126318913	126318913	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:126318913C>G	ENST00000525144.2	-	8	1237	c.988G>C	c.(988-990)Gac>Cac	p.D330H	KIRREL3_ENST00000525704.2_Missense_Mutation_p.D330H|KIRREL3_ENST00000529097.2_Missense_Mutation_p.D330H	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	330	Ig-like C2-type 3.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CAGTAGACGTCAACCGTGCGG	0.577																																						uc001qea.2		NaN																	0				ovary(3)	3						c.(988-990)GAC>CAC		kin of IRRE like 3 isoform 1							64.0	69.0	67.0					11																	126318913		2092	4225	6317	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126318913C>G	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.988G>C	11.37:g.126318913C>G	ENSP00000435466:p.Asp330His					KIRREL3_uc001qeb.2_Missense_Mutation_p.D330H|KIRREL3_uc001qec.1_Missense_Mutation_p.D330H	p.D330H	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	8	1349	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	330			Extracellular (Potential).|Ig-like C2-type 3.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.988G>C	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132129	0.77662	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.15372	2.43;2.43;2.43	5.32	4.41	0.53225	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.967;0.997	T	0.44907	-0.9297	10	0.87932	D	0	.	13.6706	0.62422	0.0:0.925:0.0:0.075	.	330;330;330	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	H	330	ENSP00000435466:D330H;ENSP00000434081:D330H;ENSP00000435094:D330H	ENSP00000435466:D330H	D	-	1	0	KIRREL3	125824123	1.000000	0.71417	0.393000	0.26258	0.948000	0.59901	7.487000	0.81328	1.249000	0.43950	0.643000	0.83706	GAC		0.577	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2		NM_032531		12	30	0	0	0	1	0	12	30		
CD163L1	283316	broad.mit.edu	37	12	7526237	7526237	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:7526237C>T	ENST00000313599.3	-	14	3467		c.e14-1		CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000396630.1_Splice_Site|CD163L1_ENST00000416109.2_Splice_Site			Q9NR16	C163B_HUMAN	CD163 molecule-like 1							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCTGTGAATTCTACAGAGAAA	0.438																																						uc001qsy.2		NaN																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.e14-1		scavenger receptor cysteine-rich type 1							71.0	79.0	76.0					12																	7526237		2203	4300	6503	SO:0001630	splice_region_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7526237C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3410-1G>A	12.37:g.7526237C>T						CD163L1_uc010sge.1_Splice_Site_p.E1147_splice	p.E1137_splice	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			14	3436	-								B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Splice_Site	SNP	ENST00000313599.3	37	c.3410_splice	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151517	0.57151	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	.	.	.	2.28	2.28	0.28536	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6303	0.45532	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD163L1	7417504	1.000000	0.71417	0.531000	0.27976	0.737000	0.42083	2.039000	0.41193	1.583000	0.49898	0.557000	0.71058	.		0.438	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1		NM_174941	Intron	7	118	0	0	0	1	0	7	118		
A2M	2	broad.mit.edu	37	12	9225252	9225252	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:9225252G>C	ENST00000318602.7	-	30	4279	c.3972C>G	c.(3970-3972)ctC>ctG	p.L1324L		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1324					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GTCTCACCTGGAGGTAGACAC	0.507																																						uc001qvk.1		NaN																	0				central_nervous_system(4)|skin(1)	5						c.(3970-3972)CTC>CTG		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						144.0	144.0	144.0					12																	9225252		2125	4273	6398	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9225252G>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3972C>G	12.37:g.9225252G>C						A2M_uc001qvj.1_Silent_p.L366L|A2M_uc009zgk.1_Silent_p.L1174L	p.L1324L	NM_000014	NP_000005	P01023	A2MG_HUMAN			30	4085	-			1324					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.3972C>G	CCDS44827.1																																																																																				0.507	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2		NM_000014		50	47	0	0	0	1	0	50	47		
KLRC3	3823	broad.mit.edu	37	12	10587089	10587089	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:10587089C>T	ENST00000539033.1	-	3	341	c.327G>A	c.(325-327)caG>caA	p.Q109Q	KLRC2_ENST00000381902.2_Silent_p.Q109Q|KLRC2_ENST00000536833.2_Silent_p.Q50Q|KLRC2_ENST00000381901.1_Intron																							ATGTACCTTTCTGCGTTCTTG	0.279																																						uc001qyh.2		NaN																	0				ovary(2)|skin(1)	3						c.(325-327)CAG>CAA		killer cell lectin-like receptor subfamily C,							85.0	97.0	93.0					12																	10587089		2203	4295	6498	SO:0001819	synonymous_variant	3823				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity	g.chr12:10587089C>T																												ENST00000539033.1:c.327G>A	12.37:g.10587089C>T						KLRC2_uc010she.1_Silent_p.Q109Q|KLRC2_uc001qyk.2_Silent_p.Q109Q	p.Q109Q	NM_002261	NP_002252	Q07444	NKG2E_HUMAN			3	334	-			109			Extracellular (Potential).			Silent	SNP	ENST00000539033.1	37	c.327G>A																																																																																					0.279	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1				13	100	0	0	0	1	0	13	100		
CDKN1B	1027	broad.mit.edu	37	12	12871794	12871794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:12871794G>T	ENST00000228872.4	+	2	1227	c.511G>T	c.(511-513)Gaa>Taa	p.E171*	CDKN1B_ENST00000477087.1_3'UTR|CDKN1B_ENST00000396340.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	171					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|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)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CAACAGAACAGAAGAAAATGT	0.443																																						uc001rat.2		NaN																	0				ovary(1)|lung(1)	2						c.(511-513)GAA>TAA		cyclin-dependent kinase inhibitor 1B							82.0	95.0	90.0					12																	12871794		2203	4300	6503	SO:0001587	stop_gained	1027	Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4			autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12871794G>T	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.511G>T	12.37:g.12871794G>T	ENSP00000228872:p.Glu171*						p.E171*	NM_004064	NP_004055	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	2	983	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	171					Q16307|Q5U0H2|Q9BUS6	Nonsense_Mutation	SNP	ENST00000228872.4	37	c.511G>T	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	G	44	10.766363	0.99464	.	.	ENSG00000111276	ENST00000228872;ENST00000535674;ENST00000442489	.	.	.	5.13	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	13.9373	0.64032	0.0:0.1518:0.8482:0.0	.	.	.	.	X	171;120;77	.	ENSP00000228872:E171X	E	+	1	0	CDKN1B	12763061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.172000	0.71932	1.131000	0.42111	0.655000	0.94253	GAA		0.443	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2		NM_004064		54	47	1	0	8.28887e-21	1	8.74467e-21	54	47		
SLC11A2	4891	broad.mit.edu	37	12	51389481	51389481	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:51389481G>C	ENST00000262051.7	-	10	1008	c.921C>G	c.(919-921)tcC>tcG	p.S307S	SLC11A2_ENST00000545993.2_Silent_p.S303S|SLC11A2_ENST00000547688.1_Silent_p.S336S|SLC11A2_ENST00000541174.2_Silent_p.S307S|SLC11A2_ENST00000394904.3_Silent_p.S336S|SLC11A2_ENST00000547198.1_Silent_p.S307S|SLC11A2_ENST00000262052.5_Silent_p.S307S|SLC11A2_ENST00000546743.1_Silent_p.S228S	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	307					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						TGATGATGAAGGAAACAAAGA	0.413																																						uc001rxe.3		NaN																	0				large_intestine(1)	1						c.(919-921)TCC>TCG		solute carrier family 11 (proton-coupled							193.0	164.0	174.0					12																	51389481		2203	4300	6503	SO:0001819	synonymous_variant	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51389481G>C	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.921C>G	12.37:g.51389481G>C						SLC11A2_uc001rxd.3_Silent_p.S156S|SLC11A2_uc001rxc.3_Silent_p.S307S|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_5'Flank|SLC11A2_uc010smx.1_Silent_p.S303S|SLC11A2_uc001rxh.1_Silent_p.S307S|SLC11A2_uc001rxj.1_Silent_p.S307S|SLC11A2_uc001rxi.2_Silent_p.S307S|SLC11A2_uc001rxk.1_Silent_p.S336S|SLC11A2_uc010smy.1_Silent_p.S270S	p.S307S	NM_000617	NP_000608	P49281	NRAM2_HUMAN			10	1018	-			307			Helical; (Potential).		B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Silent	SNP	ENST00000262051.7	37	c.921C>G	CCDS53792.1																																																																																				0.413	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1				22	29	0	0	0	1	0	22	29		
KRT8	3856	broad.mit.edu	37	12	53292539	53292539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:53292539C>A	ENST00000552551.1	-	7	1558	c.1126G>T	c.(1126-1128)Gag>Tag	p.E376*	KRT8_ENST00000293308.6_Nonsense_Mutation_p.E376*|KRT8_ENST00000552150.1_Nonsense_Mutation_p.E404*|KRT8_ENST00000546897.1_Nonsense_Mutation_p.E376*			P05787	K2C8_HUMAN	keratin 8	376	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	TTCATCAGCTCCTGGTACTCA	0.642																																						uc001sbd.2		NaN																	0				ovary(1)|skin(1)	2						c.(1126-1128)GAG>TAG		keratin 8	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						91.0	91.0	91.0					12																	53292539		2203	4297	6500	SO:0001587	stop_gained	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53292539C>A	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.1126G>T	12.37:g.53292539C>A	ENSP00000447566:p.Glu376*					KRT8_uc009zmj.2_Intron|KRT8_uc009zmk.1_Nonsense_Mutation_p.E404*|KRT8_uc009zml.1_Nonsense_Mutation_p.E376*|KRT8_uc009zmm.1_Nonsense_Mutation_p.E376*	p.E376*	NM_002273	NP_002264	P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	6	1229	-			376			Necessary for interaction with PNN.|Rod.|Coil 2.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Nonsense_Mutation	SNP	ENST00000552551.1	37	c.1126G>T	CCDS8841.1	.	.	.	.	.	.	.	.	.	.	C	38	6.957711	0.97964	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000546897;ENST00000552150	.	.	.	4.39	4.39	0.52855	.	0.234215	0.42294	D	0.000736	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.3894	0.83528	0.0:1.0:0.0:0.0	.	.	.	.	X	376;376;376;404	.	ENSP00000293308:E376X	E	-	1	0	KRT8	51578806	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.655000	0.83696	2.375000	0.81037	0.561000	0.74099	GAG		0.642	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1		NM_002273		40	51	1	0	7.63091e-17	1	8.00164e-17	40	51		
ESPL1	9700	broad.mit.edu	37	12	53677939	53677939	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:53677939G>C	ENST00000257934.4	+	17	3266	c.3175G>C	c.(3175-3177)Gag>Cag	p.E1059Q	ESPL1_ENST00000552462.1_Missense_Mutation_p.E1059Q	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1059					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTTCTTGCTTGAGTCTTGCAC	0.527																																					Colon(53;1069 1201 2587 5382)	uc001sck.2		NaN																	0				lung(1)|kidney(1)|skin(1)	3						c.(3175-3177)GAG>CAG		separase							155.0	135.0	142.0					12																	53677939		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53677939G>C	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3175G>C	12.37:g.53677939G>C	ENSP00000257934:p.Glu1059Gln					ESPL1_uc001scj.2_Missense_Mutation_p.E734Q|ESPL1_uc010soe.1_Missense_Mutation_p.E270Q	p.E1059Q	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			17	3266	+			1059						Missense_Mutation	SNP	ENST00000257934.4	37	c.3175G>C	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203450	0.58234	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.15256	2.44;2.44	5.46	4.53	0.55603	.	0.048627	0.85682	D	0.000000	T	0.20333	0.0489	M	0.73598	2.24	0.42266	D	0.992038	B;P	0.43169	0.176;0.8	B;B	0.35182	0.095;0.197	T	0.06607	-1.0817	10	0.62326	D	0.03	.	13.7645	0.62986	0.0:0.153:0.847:0.0	.	270;1059	B4DRU1;Q14674	.;ESPL1_HUMAN	Q	1059;734;1059	ENSP00000257934:E1059Q;ENSP00000449831:E1059Q	ENSP00000257934:E1059Q	E	+	1	0	ESPL1	51964206	1.000000	0.71417	0.984000	0.44739	0.886000	0.51366	4.936000	0.63506	2.847000	0.97988	0.591000	0.81541	GAG		0.527	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2		NM_012291		32	52	0	0	0	1	0	32	52		
OR6C65	403282	broad.mit.edu	37	12	55794872	55794872	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:55794872G>C	ENST00000379665.2	+	1	659	c.560G>C	c.(559-561)tGc>tCc	p.C187S		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						CTGATTGCTTGCACAGACACA	0.448																																						uc010spl.1		NaN																	0					0						c.(559-561)TGC>TCC		olfactory receptor, family 6, subfamily C,							247.0	248.0	248.0					12																	55794872		2203	4300	6503	SO:0001583	missense	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794872G>C		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.560G>C	12.37:g.55794872G>C	ENSP00000368986:p.Cys187Ser						p.C187S	NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN			1	560	+			187			Extracellular (Potential).		B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	37	c.560G>C	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356199	0.41700	.	.	ENSG00000205328	ENST00000379665	T	0.00450	7.36	3.56	2.67	0.31697	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	U	0.000525	T	0.01287	0.0042	M	0.90369	3.11	0.29386	N	0.862977	D	0.71674	0.998	D	0.67900	0.954	T	0.03706	-1.1011	10	0.87932	D	0	.	11.1848	0.48648	0.0938:0.0:0.9062:0.0	.	187	A6NJZ3	O6C65_HUMAN	S	187	ENSP00000368986:C187S	ENSP00000368986:C187S	C	+	2	0	OR6C65	54081139	0.985000	0.35326	0.367000	0.25926	0.788000	0.44548	2.706000	0.47135	0.847000	0.35167	-0.611000	0.04053	TGC		0.448	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1				74	105	0	0	0	1	0	74	105		
ANKRD52	283373	broad.mit.edu	37	12	56645860	56645860	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:56645860A>G	ENST00000267116.7	-	15	1652	c.1531T>C	c.(1531-1533)Tcc>Ccc	p.S511P		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	511										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TCATGGCTGGAAGGTGTATGG	0.592																																						uc001skm.3		NaN																	0				ovary(2)	2						c.(1531-1533)TCC>CCC		ankyrin repeat domain 52							83.0	85.0	84.0					12																	56645860		1961	4131	6092	SO:0001583	missense	283373						protein binding	g.chr12:56645860A>G	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1531T>C	12.37:g.56645860A>G	ENSP00000267116:p.Ser511Pro						p.S511P	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			15	1621	-			511			ANK 15.		A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.1531T>C	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.145822	0.37923	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.64991	-0.13	5.02	1.19	0.21007	Ankyrin repeat-containing domain (2);	0.496864	0.19770	N	0.106446	T	0.43456	0.1248	L	0.36672	1.1	0.32690	N	0.514346	B	0.06786	0.001	B	0.10450	0.005	T	0.44817	-0.9303	10	0.54805	T	0.06	.	1.2143	0.01911	0.36:0.2889:0.0896:0.2615	.	511	Q8NB46	ANR52_HUMAN	P	511	ENSP00000267116:S511P	ENSP00000267116:S511P	S	-	1	0	ANKRD52	54932127	0.846000	0.29590	1.000000	0.80357	0.989000	0.77384	0.099000	0.15210	0.842000	0.35045	0.455000	0.32223	TCC		0.592	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1		NM_173595		5	35	0	0	0	1	0	5	35		
LEMD3	23592	broad.mit.edu	37	12	65563434	65563434	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:65563434C>G	ENST00000308330.2	+	1	84	c.58C>G	c.(58-60)Cag>Gag	p.Q20E	LEMD3_ENST00000541171.1_3'UTR	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	20	LEM. {ECO:0000255|PROSITE- ProRule:PRU00313}.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GCTTTTCTCTCAGCTCCGCCG	0.602																																						uc001ssl.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(58-60)CAG>GAG		LEM domain containing 3							12.0	10.0	11.0					12																	65563434		2185	4275	6460	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65563434C>G	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.58C>G	12.37:g.65563434C>G	ENSP00000308369:p.Gln20Glu					LEMD3_uc009zqo.1_Missense_Mutation_p.Q20E	p.Q20E	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	1	64	+			20			LEM.		Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.58C>G	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	C	8.489	0.861491	0.17178	.	.	ENSG00000174106	ENST00000308330	T	0.38401	1.14	3.98	3.98	0.46160	LEM-like domain (2);Lamino-associated polypeptide 2/emerin (3);	0.145674	0.43110	D	0.000615	T	0.14700	0.0355	N	0.03071	-0.42	0.30409	N	0.779244	B;B	0.10296	0.003;0.003	B;B	0.11329	0.006;0.006	T	0.10941	-1.0608	9	.	.	.	-10.8554	10.6289	0.45523	0.0:0.6865:0.3135:0.0	.	20;20	B4E2K7;Q9Y2U8	.;MAN1_HUMAN	E	20	ENSP00000308369:Q20E	.	Q	+	1	0	LEMD3	63849701	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.287000	0.59001	2.501000	0.84356	0.462000	0.41574	CAG		0.602	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2				2	4	0	0	0	1	0	2	4		
C12orf74	338809	broad.mit.edu	37	12	93100662	93100662	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:93100662G>A	ENST00000397833.3	+	2	706	c.255G>A	c.(253-255)tcG>tcA	p.S85S	C12orf74_ENST00000544406.2_Silent_p.S85S	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	85								p.S85S(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GTTACCTTTCGAAGAGCCTGC	0.567																																						uc001tch.1		NaN																	1	Substitution - coding silent(1)		prostate(1)		0						c.(253-255)TCG>TCA		hypothetical protein LOC338809							46.0	48.0	48.0					12																	93100662		1894	4114	6008	SO:0001819	synonymous_variant	338809							g.chr12:93100662G>A	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.255G>A	12.37:g.93100662G>A						C12orf74_uc001tci.2_Silent_p.S85S	p.S85S	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN			2	485	+			85					F5H4P0	Silent	SNP	ENST00000397833.3	37	c.255G>A	CCDS41819.1																																																																																				0.567	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1		NM_001037671		14	41	0	0	0	1	0	14	41		
ANKRD13A	88455	broad.mit.edu	37	12	110468561	110468561	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:110468561C>T	ENST00000261739.4	+	12	1512	c.1346C>T	c.(1345-1347)tCa>tTa	p.S449L	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	449						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CAGGCTGATTCAGGtaaaaaa	0.368																																						uc001tpx.2		NaN																	0					0						c.(1345-1347)TCA>TTA		ankyrin repeat domain 13							31.0	29.0	30.0					12																	110468561		2203	4300	6503	SO:0001583	missense	88455							g.chr12:110468561C>T	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.1346C>T	12.37:g.110468561C>T	ENSP00000261739:p.Ser449Leu					ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc010sxw.1_Missense_Mutation_p.S448L|ANKRD13A_uc001tpy.2_Intron|ANKRD13A_uc001tpz.2_Missense_Mutation_p.S87L|ANKRD13A_uc001tqa.2_Missense_Mutation_p.S87L	p.S449L	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN			12	1605	+			449					O60736	Missense_Mutation	SNP	ENST00000261739.4	37	c.1346C>T	CCDS9140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.70|16.70	3.196906|3.196906	0.58126|0.58126	.|.	.|.	ENSG00000076513|ENSG00000076513	ENST00000551491|ENST00000261739;ENST00000547419;ENST00000553251;ENST00000549826	.|T	.|0.48201	.|0.82	5.62|5.62	4.68|4.68	0.58851|0.58851	.|.	.|0.650899	.|0.14268	.|N	.|0.330367	.|T	.|0.39009	.|0.1062	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|B;B	.|0.24317	.|0.042;0.101	.|B;B	.|0.25506	.|0.061;0.061	.|T	.|0.11084	.|-1.0602	.|9	.|.	.|.	.|.	-1.1514|-1.1514	13.4966|13.4966	0.61430|0.61430	0.0:0.8441:0.1559:0.0|0.0:0.8441:0.1559:0.0	.|.	.|448;449	.|B4DYP5;Q8IZ07	.|.;AN13A_HUMAN	X|L	30|449;87;87;87	.|ENSP00000261739:S449L	.|.	Q|S	+|+	1|2	0|0	ANKRD13A|ANKRD13A	108952944|108952944	0.703000|0.703000	0.27826|0.27826	0.997000|0.997000	0.53966|0.53966	0.965000|0.965000	0.64279|0.64279	1.178000|1.178000	0.31981|0.31981	2.648000|2.648000	0.89879|0.89879	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.368	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1		NM_033121		7	8	0	0	0	1	0	7	8		
CCDC63	160762	broad.mit.edu	37	12	111296402	111296402	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:111296402G>C	ENST00000308208.5	+	4	434	c.192G>C	c.(190-192)aaG>aaC	p.K64N	CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000552694.1_5'UTR|CCDC63_ENST00000545036.1_Missense_Mutation_p.K24N	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	64										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGGAGATCAAGACCCTGAAGA	0.502																																						uc001trv.1		NaN																	0				skin(6)|ovary(1)|pancreas(1)	8						c.(190-192)AAG>AAC		coiled-coil domain containing 63							82.0	78.0	79.0					12																	111296402		2203	4300	6503	SO:0001583	missense	160762							g.chr12:111296402G>C	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.192G>C	12.37:g.111296402G>C	ENSP00000312399:p.Lys64Asn					CCDC63_uc009zvt.1_5'UTR|CCDC63_uc010sye.1_Missense_Mutation_p.K24N|CCDC63_uc001trw.1_5'UTR	p.K64N	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			4	387	+			64			Potential.		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	c.192G>C	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	G	5.532	0.283066	0.10458	.	.	ENSG00000173093	ENST00000545036;ENST00000308208	T;T	0.31510	1.49;1.5	5.61	2.68	0.31781	.	1.257270	0.04837	N	0.439771	T	0.25531	0.0621	L	0.46157	1.445	0.09310	N	0.99999	B	0.16802	0.019	B	0.17433	0.018	T	0.27365	-1.0076	10	0.23891	T	0.37	.	3.354	0.07163	0.0932:0.1704:0.5595:0.1769	.	64	Q8NA47	CCD63_HUMAN	N	24;64	ENSP00000445881:K24N;ENSP00000312399:K64N	ENSP00000312399:K64N	K	+	3	2	CCDC63	109780785	0.178000	0.23122	0.730000	0.30809	0.222000	0.24845	1.064000	0.30579	2.643000	0.89663	0.555000	0.69702	AAG		0.502	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2		NM_152591		7	19	0	0	0	1	0	7	19		
SBNO1	55206	broad.mit.edu	37	12	123789171	123789171	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:123789171G>C	ENST00000602398.1	-	29	3853	c.3726C>G	c.(3724-3726)ctC>ctG	p.L1242L	SBNO1_ENST00000267176.4_Silent_p.L1241L|SBNO1_ENST00000602750.1_Silent_p.L1241L|SBNO1_ENST00000420886.2_Silent_p.L1242L			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1242					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTTCTAATTTGAGCTGCTTCC	0.299																																						uc010tap.1		NaN																	0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(3724-3726)CTC>CTG		sno, strawberry notch homolog 1							40.0	42.0	41.0					12																	123789171		2201	4295	6496	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123789171G>C	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3726C>G	12.37:g.123789171G>C						SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Silent_p.L1241L|SBNO1_uc010taq.1_Silent_p.L193L|SBNO1_uc001ues.1_Silent_p.L193L	p.L1242L	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	28	3726	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1242					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.3726C>G	CCDS53844.1																																																																																				0.299	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1		NM_018183		7	20	0	0	0	1	0	7	20		
GPR133	283383	broad.mit.edu	37	12	131471828	131471828	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:131471828G>A	ENST00000261654.5	+	6	1238	c.679G>A	c.(679-681)Gag>Aag	p.E227K	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.E259K	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	227					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGCTTTCGATGAGTTCATCAT	0.542																																						uc001uit.3		NaN																	0				pancreas(5)|ovary(3)|skin(2)	10						c.(679-681)GAG>AAG		G protein-coupled receptor 133 precursor							150.0	139.0	143.0					12																	131471828		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131471828G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.679G>A	12.37:g.131471828G>A	ENSP00000261654:p.Glu227Lys					GPR133_uc010tbm.1_Missense_Mutation_p.E259K	p.E227K	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	6	1238	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		227			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.679G>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667300	0.88348	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015	T;T;T	0.79454	-1.27;-1.27;-1.27	4.46	4.46	0.54185	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.88058	0.6335	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.984	D	0.89694	0.3900	10	0.59425	D	0.04	.	16.1186	0.81325	0.0:0.0:1.0:0.0	.	259;227	B7ZLF7;Q6QNK2	.;GP133_HUMAN	K	227;167;259	ENSP00000261654:E227K;ENSP00000442501:E167K;ENSP00000444425:E259K	ENSP00000261654:E227K	E	+	1	0	GPR133	130037781	1.000000	0.71417	0.922000	0.36590	0.644000	0.38419	8.703000	0.91344	2.024000	0.59613	0.591000	0.81541	GAG		0.542	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1		NM_198827		14	44	0	0	0	1	0	14	44		
GOLGA3	2802	broad.mit.edu	37	12	133353621	133353621	+	Missense_Mutation	SNP	C	C	T	rs375782880		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:133353621C>T	ENST00000450791.2	-	19	3961	c.3778G>A	c.(3778-3780)Gag>Aag	p.E1260K	GOLGA3_ENST00000204726.3_Missense_Mutation_p.E1260K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E1260K			Q08378	GOGA3_HUMAN	golgin A3	1260	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCCGGGCCTCGGCCAGCTCT	0.587																																						uc001ukz.1		NaN																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3778-3780)GAG>AAG		Golgi autoantigen, golgin subfamily a, 3		C	LYS/GLU	0,4406		0,0,2203	55.0	55.0	55.0		3778	5.6	1.0	12		55	1,8599		0,1,4299	no	missense	GOLGA3	NM_005895.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1260/1499	133353621	1,13005	2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353621C>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3778G>A	12.37:g.133353621C>T	ENSP00000410378:p.Glu1260Lys					GOLGA3_uc001ula.1_Missense_Mutation_p.E1260K	p.E1260K	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	20	4337	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1260			Potential.|Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.3778G>A	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490475	0.84962	0.0	1.16E-4	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.78481	-1.18;-1.18;1.56	5.57	5.57	0.84162	.	0.092218	0.85682	D	0.000000	D	0.85881	0.5800	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63113	0.828;0.911	D	0.84661	0.0706	10	0.41790	T	0.15	.	19.5493	0.95311	0.0:1.0:0.0:0.0	.	1260;1260	Q08378-2;Q08378	.;GOGA3_HUMAN	K	1260	ENSP00000204726:E1260K;ENSP00000410378:E1260K;ENSP00000409303:E1260K	ENSP00000204726:E1260K	E	-	1	0	GOLGA3	131863694	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	7.773000	0.85462	2.621000	0.88768	0.650000	0.86243	GAG		0.587	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2		NM_005895		9	15	0	0	0	1	0	9	15		
IFT88	8100	broad.mit.edu	37	13	21217598	21217598	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:21217598G>A	ENST00000319980.6	+	21	2041	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	IFT88_ENST00000382778.4_Missense_Mutation_p.E572K|IFT88_ENST00000351808.5_Missense_Mutation_p.E563K|IFT88_ENST00000537103.1_Missense_Mutation_p.E544K	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	572					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CATAAGATATGAATTAATGGA	0.318																																						uc001unh.2		NaN																	0				ovary(1)	1						c.(1714-1716)GAA>AAA		intraflagellar transport 88 homolog isoform 1							98.0	95.0	96.0					13																	21217598		2203	4300	6503	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21217598G>A	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1714G>A	13.37:g.21217598G>A	ENSP00000323580:p.Glu572Lys					IFT88_uc001uni.2_Missense_Mutation_p.E563K|IFT88_uc001unj.2_Missense_Mutation_p.E562K|IFT88_uc010tcq.1_Missense_Mutation_p.E543K	p.E572K	NM_175605	NP_783195	Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	21	2110	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	572			TPR 9.		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.1714G>A	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346666	0.61073	.	.	ENSG00000032742	ENST00000382778;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.109418	0.64402	D	0.000009	T	0.72542	0.3473	M	0.81497	2.545	0.80722	D	1	B;D	0.56968	0.076;0.978	B;P	0.54499	0.144;0.754	T	0.75783	-0.3196	10	0.62326	D	0.03	-29.9604	17.0516	0.86520	0.0:0.1267:0.8733:0.0	.	544;572	F5H6C2;Q13099	.;IFT88_HUMAN	K	572;563;572;544	ENSP00000372228:E572K;ENSP00000261632:E563K;ENSP00000323580:E572K;ENSP00000437719:E544K	ENSP00000323580:E572K	E	+	1	0	IFT88	20115598	1.000000	0.71417	0.999000	0.59377	0.663000	0.39108	7.824000	0.86668	2.755000	0.94549	0.557000	0.71058	GAA		0.318	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3		NM_006531		11	42	0	0	0	1	0	11	42		
PARP4	143	broad.mit.edu	37	13	25016097	25016097	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:25016097C>G	ENST00000381989.3	-	30	3658	c.3553G>C	c.(3553-3555)Gag>Cag	p.E1185Q		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1185					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AAAGGCGACTCATTCTCATCC	0.403																																						uc001upl.2		NaN																	0				ovary(3)|skin(1)	4						c.(3553-3555)GAG>CAG		poly (ADP-ribose) polymerase family, member 4							39.0	41.0	40.0					13																	25016097		2202	4299	6501	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25016097C>G	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3553G>C	13.37:g.25016097C>G	ENSP00000371419:p.Glu1185Gln						p.E1185Q	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	30	3659	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1185					O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.3553G>C	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	c	8.959	0.970150	0.18659	.	.	ENSG00000102699	ENST00000381989	T	0.62498	0.02	3.93	3.07	0.35406	.	0.263584	0.28499	U	0.015133	T	0.73148	0.3550	M	0.67953	2.075	0.09310	N	1	D	0.71674	0.998	D	0.78314	0.991	T	0.61058	-0.7139	10	0.66056	D	0.02	-19.0055	9.2884	0.37771	0.0:0.8881:0.0:0.1119	.	1185	Q9UKK3	PARP4_HUMAN	Q	1185	ENSP00000371419:E1185Q	ENSP00000371419:E1185Q	E	-	1	0	PARP4	23914097	0.986000	0.35501	0.099000	0.21106	0.027000	0.11550	3.094000	0.50227	2.201000	0.70794	0.558000	0.71614	GAG		0.403	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1		NM_006437		11	42	0	0	0	1	0	11	42		
NUPL1	9818	broad.mit.edu	37	13	25876015	25876015	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:25876015C>T	ENST00000381736.3	+	1	354	c.104C>T	c.(103-105)tCt>tTt	p.S35F	NUPL1_ENST00000463407.1_Missense_Mutation_p.S35F|RP11-271M24.2_ENST00000568856.2_lincRNA|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.S35F	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	35	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		ACGGGAGCGTCTAGGTAACCG	0.662																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	uc001uqi.2		NaN																	0					0						c.(103-105)TCT>TTT		nucleoporin like 1 isoform a							33.0	33.0	33.0					13																	25876015		2203	4299	6502	SO:0001583	missense	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25876015C>T	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.104C>T	13.37:g.25876015C>T	ENSP00000371155:p.Ser35Phe					NUPL1_uc001uqg.1_Missense_Mutation_p.S35F|NUPL1_uc001uqj.2_Missense_Mutation_p.S35F	p.S35F	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	1	350	+		Lung SC(185;0.0225)|Breast(139;0.0351)	35			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	c.104C>T	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	C	8.816	0.936457	0.18206	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747	T;T;T;T	0.34072	1.38;1.4;1.43;1.38	4.4	4.4	0.53042	.	0.541398	0.19913	N	0.103260	T	0.33411	0.0862	L	0.40543	1.245	0.28056	N	0.933165	B;B;P	0.36249	0.32;0.32;0.545	B;B;B	0.38056	0.264;0.264;0.264	T	0.36817	-0.9732	10	0.87932	D	0	-5.7479	14.0405	0.64672	0.0:1.0:0.0:0.0	.	35;35;35	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	F	35;35;12;35;35;35	ENSP00000371155:S35F;ENSP00000418555:S35F;ENSP00000371137:S35F;ENSP00000371166:S35F	ENSP00000318459:S12F	S	+	2	0	NUPL1	24774015	0.413000	0.25400	0.666000	0.29783	0.108000	0.19459	3.825000	0.55730	2.148000	0.66965	0.591000	0.81541	TCT		0.662	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2				5	9	0	0	0	1	0	5	9		
LNX2	222484	broad.mit.edu	37	13	28127506	28127506	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:28127506C>T	ENST00000316334.3	-	8	1746	c.1617G>A	c.(1615-1617)ctG>ctA	p.L539L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	539	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CACTGGCTTTCAGCATTGCAA	0.478																																						uc001url.3		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6						c.(1615-1617)CTG>CTA		ligand of numb-protein X 2							102.0	95.0	97.0					13																	28127506		2203	4300	6503	SO:0001819	synonymous_variant	222484						zinc ion binding	g.chr13:28127506C>T	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1617G>A	13.37:g.28127506C>T						LNX2_uc001urm.1_Silent_p.L539L	p.L539L	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	8	1926	-		Lung SC(185;0.0156)	539			PDZ 3.		Q5W0P0|Q6ZMH2|Q96SH4	Silent	SNP	ENST00000316334.3	37	c.1617G>A	CCDS9323.1																																																																																				0.478	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2				15	52	0	0	0	1	0	15	52		
KATNAL1	84056	broad.mit.edu	37	13	30782761	30782761	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:30782761C>T	ENST00000380615.3	-	11	1556	c.1389G>A	c.(1387-1389)ttG>ttA	p.L463L	KATNAL1_ENST00000380617.3_Silent_p.L463L|AL356750.1_ENST00000579551.1_RNA	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TCTTTAGGGCCAATTCAAAGT	0.418																																						uc001uss.2		NaN																	0					0						c.(1387-1389)TTG>TTA		katanin p60 subunit A-like 1							104.0	104.0	104.0					13																	30782761		2203	4300	6503	SO:0001819	synonymous_variant	84056					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr13:30782761C>T	AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.1389G>A	13.37:g.30782761C>T						KATNAL1_uc001ust.2_Silent_p.L463L	p.L463L	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)	11	1490	-		Lung SC(185;0.0257)	463						Silent	SNP	ENST00000380615.3	37	c.1389G>A	CCDS31956.1																																																																																				0.418	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2		NM_032116		24	55	0	0	0	1	0	24	55		
ZC3H13	23091	broad.mit.edu	37	13	46594682	46594682	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:46594682G>C	ENST00000242848.4	-	5	698	c.350C>G	c.(349-351)tCa>tGa	p.S117*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.S117*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	117							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTCCCTCTTGAAGATTCTTT	0.284																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NaN																	0				ovary(1)|lung(1)	2						c.(349-351)TCA>TGA		zinc finger CCCH-type containing 13							117.0	111.0	113.0					13																	46594682		2203	4299	6502	SO:0001587	stop_gained	23091						nucleic acid binding|zinc ion binding	g.chr13:46594682G>C	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.350C>G	13.37:g.46594682G>C	ENSP00000242848:p.Ser117*					ZC3H13_uc001vas.1_Nonsense_Mutation_p.S117*|ZC3H13_uc001vat.1_Nonsense_Mutation_p.S117*	p.S117*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	4	356	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	117					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37	c.350C>G		.	.	.	.	.	.	.	.	.	.	G	40	7.984702	0.98596	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	.	.	.	5.07	5.07	0.68467	.	0.000000	0.48286	D	0.000200	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	18.438	0.90653	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	ENSP00000242848:S117X	S	-	2	0	ZC3H13	45492683	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.171000	0.94802	2.362000	0.80069	0.467000	0.42956	TCA		0.284	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1		NM_015070		11	33	0	0	0	1	0	11	33		
RB1	5925	broad.mit.edu	37	13	48936983	48936983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:48936983C>T	ENST00000267163.4	+	8	889	c.751C>T	c.(751-753)Cga>Tga	p.R251*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	251					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.R251*(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGGTTCACCTCGAACACCCAG	0.343		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		26	Whole gene deletion(15)|Unknown(6)|Substitution - Nonsense(5)	p.?(5)|p.R251*(3)	bone(11)|breast(5)|eye(3)|central_nervous_system(2)|lung(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CM941204	RB1	M		c.(751-753)CGA>TGA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						104.0	106.0	105.0					13																	48936983		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48936983C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.751C>T	13.37:g.48936983C>T	ENSP00000267163:p.Arg251*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_RNA|RB1_uc010act.1_Intron	p.R251*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	8	917	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	251					A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.751C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097506	0.94197	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	6.03	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0593	0.86542	0.1354:0.8646:0.0:0.0	.	.	.	.	X	230;251	.	ENSP00000267163:R251X	R	+	1	2	RB1	47834984	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.479000	0.45197	2.854000	0.98071	0.655000	0.94253	CGA		0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1				17	46	0	0	0	1	0	17	46		
SLITRK1	114798	broad.mit.edu	37	13	84454070	84454070	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:84454070C>G	ENST00000377084.2	-	1	2458	c.1573G>C	c.(1573-1575)Gac>Cac	p.D525H		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	525					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCGTGGAGGTCTATCTGGATG	0.557																																						uc001vlk.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1573-1575)GAC>CAC		slit and trk like 1 protein precursor							54.0	55.0	54.0					13																	84454070		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454070C>G	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1573G>C	13.37:g.84454070C>G	ENSP00000366288:p.Asp525His						p.D525H	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2459	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	525			Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1573G>C	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420075	0.62622	.	.	ENSG00000178235	ENST00000377084	T	0.55413	0.52	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.71686	-0.4518	10	0.45353	T	0.12	-18.6501	17.693	0.88273	0.0:1.0:0.0:0.0	.	525	Q96PX8	SLIK1_HUMAN	H	525	ENSP00000366288:D525H	ENSP00000366288:D525H	D	-	1	0	SLITRK1	83352071	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.776000	0.85560	2.603000	0.88011	0.655000	0.94253	GAC		0.557	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1		NM_052910		16	46	0	0	0	1	0	16	46		
GPC5	2262	broad.mit.edu	37	13	92345940	92345940	+	Silent	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:92345940C>G	ENST00000377067.3	+	3	1197	c.825C>G	c.(823-825)ctC>ctG	p.L275L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	275					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GATACTGCCTCAATGTCATGC	0.547																																						uc010tif.1		NaN																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(823-825)CTC>CTG		glypican 5 precursor							102.0	90.0	94.0					13																	92345940		2203	4300	6503	SO:0001819	synonymous_variant	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345940C>G	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.825C>G	13.37:g.92345940C>G							p.L275L	NM_004466	NP_004457	P78333	GPC5_HUMAN			3	1191	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	275					B2R726|O60436|Q9BX27	Silent	SNP	ENST00000377067.3	37	c.825C>G	CCDS9468.1																																																																																				0.547	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1		NM_004466		5	73	0	0	0	1	0	5	73		
STK24	8428	broad.mit.edu	37	13	99114081	99114081	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:99114081G>A	ENST00000376547.3	-	8	1181	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S	STK24_ENST00000539966.1_Missense_Mutation_p.P315S|STK24_ENST00000397517.2_Missense_Mutation_p.P334S	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	346	Nuclear export signal (NES).				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGATTCTTGGGATCTTTTTCT	0.507																																						uc001vnm.1		NaN																	0				ovary(1)|lung(1)	2						c.(1036-1038)CCC>TCC		serine/threonine kinase 24 isoform a							155.0	144.0	148.0					13																	99114081		2203	4300	6503	SO:0001583	missense	8428				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr13:99114081G>A	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.1036C>T	13.37:g.99114081G>A	ENSP00000365730:p.Pro346Ser					STK24_uc001vnn.1_Missense_Mutation_p.P334S|STK24_uc010tim.1_Missense_Mutation_p.P315S	p.P346S	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		8	1271	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		346					O14840|Q5JV92	Missense_Mutation	SNP	ENST00000376547.3	37	c.1036C>T	CCDS9488.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.31|14.31	2.496572|2.496572	0.44352|0.44352	.|.	.|.	ENSG00000102572|ENSG00000102572	ENST00000397517;ENST00000376554;ENST00000376547;ENST00000376541;ENST00000539966;ENST00000418038;ENST00000376533|ENST00000444574	T;T;T;T;T|.	0.70986|.	-0.49;3.88;-0.48;-0.53;1.56|.	4.94|4.94	4.1|4.1	0.47936|0.47936	.|.	0.268878|.	0.26234|.	N|.	0.025548|.	T|T	0.50531|0.50531	0.1621|0.1621	L|L	0.31926|0.31926	0.97|0.97	0.48288|0.48288	D|D	0.999626|0.999626	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.001;0.001|.	T|T	0.41106|0.41106	-0.9527|-0.9527	10|5	0.23891|.	T|.	0.37|.	.|.	9.6251|9.6251	0.39746|0.39746	0.1604:0.0:0.8396:0.0|0.1604:0.0:0.8396:0.0	.|.	315;334;346|.	B4DR80;Q5U0E6;Q9Y6E0|.	.;.;STK24_HUMAN|.	S|F	334;135;346;149;315;56;322|251	ENSP00000380651:P334S;ENSP00000365737:P135S;ENSP00000365730:P346S;ENSP00000442539:P315S;ENSP00000402810:P56S|.	ENSP00000365716:P322S|.	P|S	-|-	1|2	0|0	STK24|STK24	97912082|97912082	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.972000|0.972000	0.66771|0.66771	6.069000|6.069000	0.71209|0.71209	1.076000|1.076000	0.40961|0.40961	0.467000|0.467000	0.42956|0.42956	CCC|TCC		0.507	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2		NM_003576		33	74	0	0	0	1	0	33	74		
FAM155A	728215	broad.mit.edu	37	13	108518877	108518877	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:108518877C>T	ENST00000375915.2	-	1	206	c.68G>A	c.(67-69)cGa>cAa	p.R23Q		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	23						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCGTTCTCTCGGGGTGCTGC	0.532																																						uc001vql.2		NaN																	0				skin(1)	1						c.(67-69)CGA>CAA		family with sequence similarity 155, member A							150.0	157.0	155.0					13																	108518877		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518877C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.68G>A	13.37:g.108518877C>T	ENSP00000365080:p.Arg23Gln						p.R23Q	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	584	-			23					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.68G>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336048	0.81801	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.13	4.25	0.50352	.	0.075615	0.53938	D	0.000052	T	0.67449	0.2894	L	0.46157	1.445	0.44207	D	0.997036	D	0.69078	0.997	D	0.64776	0.929	T	0.70110	-0.4962	9	0.72032	D	0.01	.	13.6686	0.62412	0.1557:0.8443:0.0:0.0	.	23	B1AL88	F155A_HUMAN	Q	23	.	ENSP00000365080:R23Q	R	-	2	0	FAM155A	107316878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.180000	0.77674	1.088000	0.41272	0.650000	0.86243	CGA		0.532	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2		NM_001080396		55	133	0	0	0	1	0	55	133		
LIG4	3981	broad.mit.edu	37	13	108861843	108861843	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:108861843C>T	ENST00000356922.4	-	2	2046	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	LIG4_ENST00000405925.1_Missense_Mutation_p.E592K|LIG4_ENST00000442234.1_Missense_Mutation_p.E592K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	592					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GTCATGCACTCATGCCACTCC	0.448								Non-homologous end-joining																														uc001vqn.2		NaN																	0					0						c.(1774-1776)GAG>AAG	NHEJ	DNA ligase IV							90.0	87.0	88.0					13																	108861843		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861843C>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1774G>A	13.37:g.108861843C>T	ENSP00000349393:p.Glu592Lys					LIG4_uc001vqo.2_Missense_Mutation_p.E592K|LIG4_uc010agg.1_Missense_Mutation_p.E525K|LIG4_uc010agf.2_Missense_Mutation_p.E592K|LIG4_uc001vqp.2_Missense_Mutation_p.E592K	p.E592K	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	2047	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		592					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1774G>A	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207897	0.39003	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.68025	-0.3;-0.3;-0.3	5.74	3.96	0.45880	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.276343	0.40554	N	0.001072	T	0.57007	0.2024	L	0.40543	1.245	0.50467	D	0.999878	B	0.25235	0.121	B	0.26693	0.072	T	0.58323	-0.7656	10	0.59425	D	0.04	.	10.9272	0.47197	0.0:0.7996:0.1292:0.0713	.	592	P49917	DNLI4_HUMAN	K	592	ENSP00000385955:E592K;ENSP00000402030:E592K;ENSP00000349393:E592K	ENSP00000349393:E592K	E	-	1	0	LIG4	107659844	1.000000	0.71417	0.626000	0.29213	0.932000	0.56968	2.762000	0.47597	1.369000	0.46134	0.551000	0.68910	GAG		0.448	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4		NM_002312		21	49	0	0	0	1	0	21	49		
TNFSF13B	10673	broad.mit.edu	37	13	108959240	108959240	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:108959240C>T	ENST00000375887.4	+	6	990	c.812C>T	c.(811-813)tCa>tTa	p.S271L	TNFSF13B_ENST00000430559.1_Missense_Mutation_p.S252L	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	271					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	GCACAAATATCACTGGATGGA	0.393																																						uc001vqr.2		NaN																	0					0						c.(811-813)TCA>TTA		tumor necrosis factor superfamily, member 13b							142.0	122.0	129.0					13																	108959240		2203	4300	6503	SO:0001583	missense	10673				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	g.chr13:108959240C>T	AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.812C>T	13.37:g.108959240C>T	ENSP00000365048:p.Ser271Leu					TNFSF13B_uc010agj.2_Missense_Mutation_p.S252L	p.S271L	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		6	1079	+	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		271			Extracellular (Potential).		E0ADT7|Q6FHD6|Q7Z5J2	Missense_Mutation	SNP	ENST00000375887.4	37	c.812C>T	CCDS9509.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047691	0.36085	.	.	ENSG00000102524	ENST00000430559;ENST00000375887	T;T	0.29397	1.57;1.57	5.49	4.65	0.58169	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	M	0.74258	2.255	0.80722	D	1	P;B	0.35542	0.508;0.085	B;B	0.31547	0.132;0.072	T	0.14924	-1.0455	9	.	.	.	-13.7874	13.9094	0.63857	0.0:0.9264:0.0:0.0736	.	252;271	Q9Y275-2;Q9Y275	.;TN13B_HUMAN	L	252;271	ENSP00000389540:S252L;ENSP00000365048:S271L	.	S	+	2	0	TNFSF13B	107757241	0.966000	0.33281	0.028000	0.17463	0.763000	0.43281	2.265000	0.43311	1.445000	0.47624	-0.216000	0.12614	TCA		0.393	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045739.3				15	38	0	0	0	1	0	15	38		
NID2	22795	broad.mit.edu	37	14	52485839	52485839	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr14:52485839C>T	ENST00000216286.5	-	14	2967	c.2968G>A	c.(2968-2970)Gaa>Aaa	p.E990K	NID2_ENST00000541773.1_Missense_Mutation_p.E889K	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	990	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCAGGAACTTCATGACCATCA	0.602																																						uc001wzo.2		NaN																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(2968-2970)GAA>AAA		nidogen 2 precursor							68.0	51.0	57.0					14																	52485839		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52485839C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2968G>A	14.37:g.52485839C>T	ENSP00000216286:p.Glu990Lys					NID2_uc010tqs.1_Missense_Mutation_p.E942K|NID2_uc010tqt.1_Missense_Mutation_p.E990K|NID2_uc001wzp.2_Missense_Mutation_p.E990K	p.E990K	NM_007361	NP_031387	Q14112	NID2_HUMAN			14	3202	-	Breast(41;0.0639)|all_epithelial(31;0.123)		990			Thyroglobulin type-1 1.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.2968G>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120337	0.77323	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.67698	-0.28;-0.28	5.32	4.29	0.51040	Thyroglobulin type-1 (5);	0.183825	0.56097	D	0.000022	T	0.72145	0.3424	L	0.38692	1.165	0.42602	D	0.993286	D;P;D;D	0.67145	0.996;0.901;0.985;0.993	D;P;D;D	0.71414	0.973;0.553;0.92;0.96	T	0.73288	-0.4030	10	0.49607	T	0.09	.	12.4257	0.55544	0.0:0.8995:0.0:0.1005	.	584;889;992;990	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	K	990;584;889;992	ENSP00000216286:E990K;ENSP00000443730:E889K	ENSP00000216286:E990K	E	-	1	0	NID2	51555589	0.998000	0.40836	0.720000	0.30636	0.954000	0.61252	3.823000	0.55715	1.316000	0.45131	0.655000	0.94253	GAA		0.602	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1				8	22	0	0	0	1	0	8	22		
FUT8	2530	broad.mit.edu	37	14	66209049	66209049	+	Missense_Mutation	SNP	C	C	T	rs149328619	byFrequency	TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr14:66209049C>T	ENST00000360689.5	+	11	3376	c.1649C>T	c.(1648-1650)aCg>aTg	p.T550M	FUT8_ENST00000394586.2_Missense_Mutation_p.T550M|FUT8_ENST00000394585.1_Missense_Mutation_p.T550M|FUT8_ENST00000358307.2_Missense_Mutation_p.T421M|FUT8_ENST00000417683.1_Missense_Mutation_p.T144M|FUT8_ENST00000557164.1_Missense_Mutation_p.T387M	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	550	SH3.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TTGGGAAGGACGGGCCTATAT	0.443													C|||	5	0.000998403	0.003	0.0	5008	,	,		19882	0.001		0.0	False		,,,				2504	0.0					uc001xin.2		NaN																	0				ovary(1)	1						c.(1648-1650)ACG>ATG		fucosyltransferase 8 isoform a		C	MET/THR,MET/THR,MET/THR	8,4398	14.3+/-33.2	0,8,2195	77.0	77.0	77.0		1160,1649,1649	5.2	1.0	14	dbSNP_134	77	0,8600		0,0,4300	yes	missense,missense,missense	FUT8	NM_004480.4,NM_178155.2,NM_178156.2	81,81,81	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	possibly-damaging,possibly-damaging,possibly-damaging	387/413,550/576,550/576	66209049	8,12998	2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66209049C>T	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1649C>T	14.37:g.66209049C>T	ENSP00000353910:p.Thr550Met					FUT8_uc001xio.2_Missense_Mutation_p.T550M|FUT8_uc010tsp.1_Missense_Mutation_p.T387M|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.T550M|FUT8_uc001xiq.2_Missense_Mutation_p.T421M|FUT8_uc001xis.2_Missense_Mutation_p.T144M	p.T550M	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	11	2846	+			550			SH3.|Lumenal (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.1649C>T	CCDS9775.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	15.51	2.856393	0.51376	0.001816	0.0	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307;ENST00000417683	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	6.04	5.16	0.70880	Src homology-3 domain (2);	0.043935	0.85682	D	0.000000	T	0.47948	0.1473	L	0.45137	1.4	0.80722	D	1	B;P;P	0.49961	0.227;0.917;0.93	B;B;P	0.49477	0.033;0.269;0.612	T	0.37776	-0.9691	10	0.29301	T	0.29	-5.1746	13.1167	0.59303	0.0:0.9232:0.0:0.0768	.	144;421;550	Q8IUA5;G3XAD2;Q9BYC5	.;.;FUT8_HUMAN	M	550;550;387;550;421;144	ENSP00000353910:T550M;ENSP00000378087:T550M;ENSP00000452433:T387M;ENSP00000378086:T550M;ENSP00000351057:T421M;ENSP00000396770:T144M	ENSP00000351057:T421M	T	+	2	0	FUT8	65278802	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.089000	0.71384	1.578000	0.49821	-0.253000	0.11424	ACG		0.443	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1		NM_004480		15	79	0	0	0	1	0	15	79		
AREL1	9870	broad.mit.edu	37	14	75143291	75143291	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr14:75143291G>A	ENST00000356357.4	-	6	1161	c.646C>T	c.(646-648)Cat>Tat	p.H216Y	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	216					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.H216D(1)									CTTACCTCATGAATGGACAAG	0.453																																						uc001xqb.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(646-648)CAT>TAT		hypothetical protein LOC9870							214.0	210.0	211.0					14																	75143291		1990	4164	6154	SO:0001583	missense	9870				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity	g.chr14:75143291G>A	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.646C>T	14.37:g.75143291G>A	ENSP00000348714:p.His216Tyr					KIAA0317_uc010tut.1_Missense_Mutation_p.H55Y|KIAA0317_uc001xqc.2_Missense_Mutation_p.H216Y	p.H216Y	NM_001039479	NP_001034568	O15033	K0317_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00404)	6	1151	-			216					B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.646C>T	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	5.910	0.352048	0.11182	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.52295	0.67;0.67	5.33	5.33	0.75918	.	0.095192	0.64402	D	0.000001	T	0.33206	0.0855	L	0.38531	1.155	0.58432	D	0.999997	P;B	0.42296	0.775;0.001	B;B	0.38327	0.271;0.003	T	0.23084	-1.0198	10	0.02654	T	1	.	13.9338	0.64012	0.0:0.0:0.848:0.152	.	216;216	O15033-2;O15033	.;K0317_HUMAN	Y	216;55;55	ENSP00000348714:H216Y;ENSP00000452101:H55Y	ENSP00000348714:H216Y	H	-	1	0	KIAA0317	74213044	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.961000	0.63681	2.496000	0.84212	0.491000	0.48974	CAT		0.453	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2		NM_014821		23	113	0	0	0	1	0	23	113		
CCDC88C	440193	broad.mit.edu	37	14	91805717	91805717	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr14:91805717G>A	ENST00000389857.6	-	8	800	c.714C>T	c.(712-714)ccC>ccT	p.P238P		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	238					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGGTGGGGCTGGGAGTGGAGT	0.662																																						uc010aty.2		NaN																	0				ovary(3)	3						c.(712-714)CCC>CCT		DVL-binding protein DAPLE							44.0	59.0	54.0					14																	91805717		2164	4255	6419	SO:0001819	synonymous_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91805717G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.714C>T	14.37:g.91805717G>A						CCDC88C_uc010twk.1_Silent_p.P202P	p.P238P	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			8	813	-		all_cancers(154;0.0468)	238					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.714C>T	CCDS45151.1																																																																																				0.662	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1		XM_029353		4	18	0	0	0	1	0	4	18		
TDRD9	122402	broad.mit.edu	37	14	104488586	104488586	+	Missense_Mutation	SNP	C	C	T	rs375199622		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr14:104488586C>T	ENST00000409874.4	+	24	2573	c.2525C>T	c.(2524-2526)tCa>tTa	p.S842L	TDRD9_ENST00000339063.5_Missense_Mutation_p.S842L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	842					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTAAAAGTTTCACTTGAACTC	0.428																																						uc001yom.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2524-2526)TCA>TTA		tudor domain containing 9							66.0	56.0	60.0					14																	104488586		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104488586C>T	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2525C>T	14.37:g.104488586C>T	ENSP00000387303:p.Ser842Leu					TDRD9_uc001yon.3_Missense_Mutation_p.S580L	p.S842L	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			24	2555	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	842					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.2525C>T	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	C	1.762	-0.486646	0.04352	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.03496	3.91;3.91	5.6	5.6	0.85130	.	0.191789	0.35495	N	0.003178	T	0.04679	0.0127	L	0.34521	1.04	0.09310	N	1	B;B	0.19583	0.037;0.009	B;B	0.15052	0.012;0.003	T	0.30268	-0.9984	10	0.87932	D	0	.	15.2382	0.73447	0.1411:0.8589:0.0:0.0	.	842;842	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	L	842	ENSP00000387303:S842L;ENSP00000343545:S842L	ENSP00000343545:S842L	S	+	2	0	TDRD9	103558339	0.005000	0.15991	0.007000	0.13788	0.018000	0.09664	2.042000	0.41222	2.641000	0.89580	0.650000	0.86243	TCA		0.428	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3		NM_153046		6	16	0	0	0	1	0	6	16		
NIPA1	123606	broad.mit.edu	37	15	23049167	23049167	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:23049167G>A	ENST00000337435.4	-	5	676	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	NIPA1_ENST00000561183.1_Missense_Mutation_p.H143Y|NIPA1_ENST00000538684.1_Missense_Mutation_p.H48Y|NIPA1_ENST00000437912.2_Missense_Mutation_p.H143Y	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	218					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		GGGTTGTTATGCAAGATGTCT	0.587																																						uc001yvc.2		NaN																	0					0						c.(652-654)CAT>TAT		non-imprinted in Prader-Willi/Angelman syndrome							114.0	98.0	103.0					15																	23049167		2203	4300	6503	SO:0001583	missense	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23049167G>A	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.652C>T	15.37:g.23049167G>A	ENSP00000337452:p.His218Tyr					NIPA1_uc001yvd.2_Missense_Mutation_p.H48Y|NIPA1_uc001yve.2_Missense_Mutation_p.H143Y	p.H218Y	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	5	677	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	218			Extracellular (Potential).		B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	ENST00000337435.4	37	c.652C>T	CCDS10011.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419198	0.42918	.	.	ENSG00000170113	ENST00000337435;ENST00000437912;ENST00000538684	D;D;D	0.90004	-2.6;-2.6;-2.6	5.58	4.67	0.58626	.	0.355736	0.33496	N	0.004850	D	0.84088	0.5395	L	0.46157	1.445	0.35906	D	0.830729	B	0.06786	0.001	B	0.08055	0.003	T	0.82653	-0.0351	10	0.44086	T	0.13	-3.6768	9.8381	0.40982	0.073:0.1396:0.7874:0.0	.	218	Q7RTP0	NIPA1_HUMAN	Y	218;143;48	ENSP00000337452:H218Y;ENSP00000393962:H143Y;ENSP00000440957:H48Y	ENSP00000337452:H218Y	H	-	1	0	NIPA1	20600608	1.000000	0.71417	0.994000	0.49952	0.916000	0.54674	1.708000	0.37899	1.361000	0.45981	0.591000	0.81541	CAT		0.587	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2		NM_144599		18	43	0	0	0	1	0	18	43		
UBE3A	7337	broad.mit.edu	37	15	25616710	25616710	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:25616710G>C	ENST00000397954.2	-	4	619	c.620C>G	c.(619-621)tCa>tGa	p.S207*	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Nonsense_Mutation_p.S184*|UBE3A_ENST00000438097.1_Nonsense_Mutation_p.S184*|UBE3A_ENST00000232165.3_Nonsense_Mutation_p.S204*|UBE3A_ENST00000428984.2_Nonsense_Mutation_p.S184*			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	207					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AGATGCTTCTGAGTCTTCTTC	0.408																																						uc001zaq.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(619-621)TCA>TGA		ubiquitin protein ligase E3A isoform 2							216.0	206.0	210.0					15																	25616710		2203	4300	6503	SO:0001587	stop_gained	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25616710G>C	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.620C>G	15.37:g.25616710G>C	ENSP00000381045:p.Ser207*					uc001zae.2_Intron|UBE3A_uc001zar.2_Nonsense_Mutation_p.S184*|UBE3A_uc001zas.2_Nonsense_Mutation_p.S204*|UBE3A_uc001zat.2_Nonsense_Mutation_p.S184*	p.S207*	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	4	620	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	207					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Nonsense_Mutation	SNP	ENST00000397954.2	37	c.620C>G	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	G	39	7.364345	0.98238	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	.	.	.	5.84	5.84	0.93424	.	5.373840	0.01352	N	0.011954	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	14.3127	0.66426	0.0704:0.0:0.9296:0.0	.	.	.	.	X	204;204;207;184;184	.	ENSP00000232165:S204X	S	-	2	0	UBE3A	23167803	0.999000	0.42202	0.994000	0.49952	0.868000	0.49771	3.429000	0.52800	2.779000	0.95612	0.591000	0.81541	TCA		0.408	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1		NM_000462		45	141	0	0	0	1	0	45	141		
TJP1	7082	broad.mit.edu	37	15	30064302	30064302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:30064302G>A	ENST00000346128.6	-	4	751	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	TJP1_ENST00000495972.2_Nonsense_Mutation_p.Q93*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.Q93*|TJP1_ENST00000400011.2_Nonsense_Mutation_p.Q97*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.Q93*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	93	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTTAGTTGCTGAACAGCAAAA	0.348																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2		NaN																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(277-279)CAG>TAG		tight junction protein 1 isoform a							79.0	72.0	74.0					15																	30064302		1820	4074	5894	SO:0001587	stop_gained	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30064302G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.277C>T	15.37:g.30064302G>A	ENSP00000281537:p.Gln93*					TJP1_uc010azl.2_Nonsense_Mutation_p.Q81*|TJP1_uc001zcq.2_Nonsense_Mutation_p.Q97*|TJP1_uc001zcs.2_Nonsense_Mutation_p.Q93*	p.Q93*	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	4	752	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	93			PDZ 1.		B4E3K1|Q2NKP3|Q4ZGJ6	Nonsense_Mutation	SNP	ENST00000346128.6	37	c.277C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448404	0.43429	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1235	0.93372	0.0:0.0:1.0:0.0	.	.	.	.	X	93;97;93;93;93	.	.	Q	-	1	0	TJP1	27851594	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	9.715000	0.98748	2.610000	0.88304	0.585000	0.79938	CAG		0.348	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3		NM_003257		12	29	0	0	0	1	0	12	29		
RYR3	6263	broad.mit.edu	37	15	34064217	34064217	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:34064217G>A	ENST00000389232.4	+	63	8983	c.8913G>A	c.(8911-8913)ctG>ctA	p.L2971L	RYR3_ENST00000415757.3_Silent_p.L2971L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2971					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGAAAACCTGAAACTTGGGA	0.473																																						uc001zhi.2		NaN																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(8911-8913)CTG>CTA		ryanodine receptor 3							77.0	73.0	74.0					15																	34064217		1866	4100	5966	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34064217G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8913G>A	15.37:g.34064217G>A						RYR3_uc010bar.2_Silent_p.L2971L	p.L2971L	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	63	8983	+		all_lung(180;7.18e-09)	2971			Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.8913G>A	CCDS45210.1																																																																																				0.473	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				5	16	0	0	0	1	0	5	16		
CAPN3	825	broad.mit.edu	37	15	42703108	42703108	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:42703108G>C	ENST00000397163.3	+	22	2509	c.2290G>C	c.(2290-2292)Gac>Cac	p.D764H	CAPN3_ENST00000318023.7_Missense_Mutation_p.D758H|CAPN3_ENST00000356316.3_Missense_Mutation_p.D671H|CAPN3_ENST00000357568.3_Missense_Mutation_p.D758H|CAPN3_ENST00000397200.4_Missense_Mutation_p.D252H|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_Missense_Mutation_p.D99H|CAPN3_ENST00000561817.1_Missense_Mutation_p.D99H|CAPN3_ENST00000569136.1_Missense_Mutation_p.D99H|CAPN3_ENST00000397204.4_Missense_Mutation_p.D99H|CAPN3_ENST00000349748.3_Missense_Mutation_p.D672H|CAPN3_ENST00000562199.1_3'UTR	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	764	Domain IV.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCAGCTCTATGACATCATTAC	0.517																																						uc001zpn.1		NaN																	0				central_nervous_system(1)	1						c.(2290-2292)GAC>CAC		calpain 3 isoform a							201.0	165.0	177.0					15																	42703108		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42703108G>C	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2290G>C	15.37:g.42703108G>C	ENSP00000380349:p.Asp764His					CAPN3_uc001zpk.1_Missense_Mutation_p.D531H|CAPN3_uc001zpl.1_Missense_Mutation_p.D671H|CAPN3_uc010udf.1_Missense_Mutation_p.D677H|CAPN3_uc010udg.1_Missense_Mutation_p.D629H|CAPN3_uc001zpo.1_Missense_Mutation_p.D758H|CAPN3_uc001zpp.1_Missense_Mutation_p.D672H|CAPN3_uc001zpq.1_Missense_Mutation_p.D252H|CAPN3_uc010bcv.1_Missense_Mutation_p.D99H|CAPN3_uc001zpr.1_Missense_Mutation_p.D99H|CAPN3_uc001zps.1_Missense_Mutation_p.D99H|CAPN3_uc001zpt.1_Missense_Mutation_p.D99H	p.D764H	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	22	2596	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	764			Domain IV.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.2290G>C	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236428	0.79800	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	D;D;D;D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63	5.4	4.49	0.54785	EF-hand-like domain (1);	0.059725	0.64402	U	0.000004	D	0.95101	0.8413	L	0.41573	1.285	0.80722	D	1	D;D;D;D;D;D;P	0.76494	0.98;0.996;0.999;0.988;0.988;0.996;0.559	P;D;D;D;D;P;P	0.65443	0.894;0.935;0.91;0.92;0.92;0.896;0.671	D	0.95299	0.8402	10	0.59425	D	0.04	.	14.0297	0.64609	0.0719:0.0:0.9281:0.0	.	629;677;99;672;758;764;671	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	H	671;252;764;758;672;758;252;99;99	ENSP00000348667:D671H;ENSP00000380349:D764H;ENSP00000350181:D758H;ENSP00000183936:D672H;ENSP00000326281:D758H;ENSP00000380384:D252H;ENSP00000336840:D99H;ENSP00000380387:D99H	ENSP00000326281:D758H	D	+	1	0	CAPN3	40490400	1.000000	0.71417	0.909000	0.35828	0.948000	0.59901	3.232000	0.51302	1.525000	0.49052	0.655000	0.94253	GAC		0.517	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1				20	49	0	0	0	1	0	20	49		
UBR1	197131	broad.mit.edu	37	15	43294862	43294862	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:43294862G>A	ENST00000290650.4	-	32	3628	c.3550C>T	c.(3550-3552)Cat>Tat	p.H1184Y	UBR1_ENST00000568782.1_5'Flank|UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1184					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGGTCAACATGAATGCGCTGC	0.413																																						uc001zqq.2		NaN																	0				lung(1)	1						c.(3550-3552)CAT>TAT		ubiquitin protein ligase E3 component n-recognin							81.0	77.0	78.0					15																	43294862		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43294862G>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3550C>T	15.37:g.43294862G>A	ENSP00000290650:p.His1184Tyr						p.H1184Y	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	32	3616	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1184			RING-type; atypical.		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.3550C>T	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068960	0.76301	.	.	ENSG00000159459	ENST00000290650	T	0.50001	0.76	5.17	5.17	0.71159	Zinc finger, RING/FYVE/PHD-type (1);	0.050452	0.85682	D	0.000000	T	0.57814	0.2079	M	0.84511	2.7	0.80722	D	1	P	0.51791	0.948	P	0.48368	0.575	T	0.62034	-0.6939	10	0.06099	T	0.92	-24.6057	18.8571	0.92257	0.0:0.0:1.0:0.0	.	1184	Q8IWV7	UBR1_HUMAN	Y	1184	ENSP00000290650:H1184Y	ENSP00000290650:H1184Y	H	-	1	0	UBR1	41082154	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.788000	0.91834	2.694000	0.91930	0.460000	0.39030	CAT		0.413	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1		NM_174916		13	44	0	0	0	1	0	13	44		
BLOC1S6	26258	broad.mit.edu	37	15	45884353	45884353	+	Missense_Mutation	SNP	G	G	A	rs149605903		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:45884353G>A	ENST00000220531.3	+	2	424	c.103G>A	c.(103-105)Gat>Aat	p.D35N	BLOC1S6_ENST00000566753.1_Missense_Mutation_p.D35N|BLOC1S6_ENST00000565323.1_Missense_Mutation_p.D40N|BLOC1S6_ENST00000564765.1_De_novo_Start_OutOfFrame|BLOC1S6_ENST00000567461.1_Intron|RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000565216.1_Intron|Y_RNA_ENST00000363549.1_RNA|BLOC1S6_ENST00000567740.1_Intron|BLOC1S6_ENST00000562384.1_Intron|BLOC1S6_ENST00000565409.1_De_novo_Start_OutOfFrame|BLOC1S6_ENST00000568816.1_De_novo_Start_OutOfFrame	NM_012388.2	NP_036520.1	Q9UL45	BL1S6_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 6, pallidin	35					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|endosome to melanosome transport (GO:0035646)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of pigment cell differentiation (GO:0050942)|post-Golgi vesicle-mediated transport (GO:0006892)|secretion of lysosomal enzymes (GO:0033299)|synaptic vesicle docking involved in exocytosis (GO:0016081)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|transport vesicle (GO:0030133)	actin filament binding (GO:0051015)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)										CACTTCTCCAGATGAAGGGTT	0.383																																						uc001zvq.2		NaN																	0				skin(1)	1						c.(103-105)GAT>AAT		pallidin		G	ASN/ASP	1,4395	2.1+/-5.4	0,1,2197	88.0	87.0	88.0		103	5.7	1.0	15	dbSNP_134	88	0,8596		0,0,4298	no	missense	PLDN	NM_012388.2	23	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	35/173	45884353	1,12991	2198	4298	6496	SO:0001583	missense	26258				post-Golgi vesicle-mediated transport|synaptic vesicle docking involved in exocytosis	BLOC-1 complex|endomembrane system|membrane	identical protein binding|syntaxin-13 binding	g.chr15:45884353G>A	AF080470	CCDS10126.1	15q21.1	2013-09-27	2012-08-07	2012-08-01	ENSG00000104164	ENSG00000104164		"""Biogenesis of lysosomal organelles complex-1 subunits"""	8549	protein-coding gene	gene with protein product		604310	"""pallid (mouse) homolog, pallidin"", ""pallidin homolog (mouse)"""	PA, PLDN		10610180	Standard	NM_012388		Approved	HPS9	uc001zvq.3	Q9UL45	OTTHUMG00000131477	ENST00000220531.3:c.103G>A	15.37:g.45884353G>A	ENSP00000220531:p.Asp35Asn					PLDN_uc001zvr.2_RNA|PLDN_uc001zvs.2_RNA	p.D35N	NM_012388	NP_036520	Q9UL45	PLDN_HUMAN		all cancers(107;6.58e-18)|GBM - Glioblastoma multiforme(94;5.91e-07)	2	328	+		Lung NSC(122;1.6e-06)|all_lung(180;1.13e-05)|Melanoma(134;0.027)	35						Missense_Mutation	SNP	ENST00000220531.3	37	c.103G>A	CCDS10126.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888860	0.91814	2.27E-4	0.0	ENSG00000104164	ENST00000220531	.	.	.	5.74	5.74	0.90152	.	0.197211	0.52532	D	0.000069	T	0.77226	0.4099	M	0.63428	1.95	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.76468	-0.2948	9	0.49607	T	0.09	-12.2562	17.4111	0.87486	0.0:0.0:1.0:0.0	.	35	Q9UL45	PLDN_HUMAN	N	35	.	ENSP00000220531:D35N	D	+	1	0	PLDN	43671645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.273000	0.72581	2.707000	0.92482	0.563000	0.77884	GAT		0.383	BLOC1S6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254320.2		NM_012388		15	38	0	0	0	1	0	15	38		
CEP152	22995	broad.mit.edu	37	15	49048212	49048212	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:49048212G>A	ENST00000380950.2	-	20	3420	c.3233C>T	c.(3232-3234)tCt>tTt	p.S1078F	CEP152_ENST00000399334.3_Missense_Mutation_p.S1078F|CEP152_ENST00000325747.5_Missense_Mutation_p.S985F	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1078					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCATTTTGAAGAACAAGTCGA	0.408																																						uc001zwy.2		NaN																	0				lung(2)	2						c.(3232-3234)TCT>TTT		centrosomal protein 152kDa							152.0	142.0	145.0					15																	49048212		1892	4110	6002	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49048212G>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3233C>T	15.37:g.49048212G>A	ENSP00000370337:p.Ser1078Phe					CEP152_uc001zwz.2_Missense_Mutation_p.S1078F|CEP152_uc001zxa.1_Missense_Mutation_p.S985F	p.S1078F	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	20	3267	-		all_lung(180;0.0428)	1078					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.3233C>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584809	0.46110	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.59502	0.28;0.32;0.26	5.25	4.34	0.51931	.	0.330219	0.28104	N	0.016581	T	0.50205	0.1602	L	0.42245	1.32	0.36397	D	0.862895	B;B;B	0.29508	0.058;0.246;0.063	B;B;B	0.28139	0.021;0.086;0.054	T	0.60357	-0.7279	10	0.54805	T	0.06	-12.6604	14.7994	0.69903	0.0726:0.0:0.9274:0.0	.	985;1078;1078	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	F	1078;985;1078	ENSP00000370337:S1078F;ENSP00000321000:S985F;ENSP00000382271:S1078F	ENSP00000321000:S985F	S	-	2	0	CEP152	46835504	0.721000	0.28007	1.000000	0.80357	0.965000	0.64279	1.895000	0.39778	2.894000	0.99253	0.591000	0.81541	TCT		0.408	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1		NM_014985		41	99	0	0	0	1	0	41	99		
TLN2	83660	broad.mit.edu	37	15	63029226	63029226	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:63029226G>C	ENST00000561311.1	+	28	3738	c.3508G>C	c.(3508-3510)Gag>Cag	p.E1170Q	TLN2_ENST00000306829.6_Missense_Mutation_p.E1170Q|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1170	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCTCATTCAAGAGGCCAAGCA	0.577																																						uc002alb.3		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(3508-3510)GAG>CAG		talin 2							64.0	60.0	61.0					15																	63029226		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63029226G>C	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3508G>C	15.37:g.63029226G>C	ENSP00000453508:p.Glu1170Gln						p.E1170Q	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			26	3508	+			1170			Ala-rich.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.3508G>C	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833286	0.91036	.	.	ENSG00000171914	ENST00000306829	T	0.14640	2.49	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	M	0.70787	2.145	0.80722	D	1	D	0.67145	0.996	P	0.62560	0.904	T	0.02365	-1.1170	10	0.33940	T	0.23	-21.4585	18.947	0.92626	0.0:0.0:1.0:0.0	.	1170	Q9Y4G6	TLN2_HUMAN	Q	1170	ENSP00000303476:E1170Q	ENSP00000303476:E1170Q	E	+	1	0	TLN2	60816518	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	7.965000	0.87945	2.545000	0.85829	0.591000	0.81541	GAG		0.577	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2				14	41	0	0	0	1	0	14	41		
DENND4A	10260	broad.mit.edu	37	15	65983618	65983618	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:65983618C>T	ENST00000431932.2	-	22	3390	c.3182G>A	c.(3181-3183)gGa>gAa	p.G1061E	DENND4A_ENST00000443035.3_Missense_Mutation_p.G1104E|DENND4A_ENST00000567323.1_5'Flank	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1061					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGCATCAGCTCCCAATTTTTC	0.378																																						uc002aph.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(3181-3183)GGA>GAA		DENN/MADD domain containing 4A isoform 2							50.0	46.0	47.0					15																	65983618		1812	4065	5877	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65983618C>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.3182G>A	15.37:g.65983618C>T	ENSP00000396830:p.Gly1061Glu					DENND4A_uc002api.2_Missense_Mutation_p.G1104E|DENND4A_uc002apj.3_Missense_Mutation_p.G1061E	p.G1061E	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			22	3560	-			1061					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.3182G>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663952	0.67700	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.26223	1.75;2.05	5.33	5.33	0.75918	.	0.174142	0.39544	N	0.001338	T	0.49389	0.1554	L	0.60455	1.87	0.54753	D	0.999987	D;D	0.89917	1.0;0.995	D;P	0.70227	0.968;0.814	T	0.46247	-0.9205	10	0.66056	D	0.02	.	19.3925	0.94590	0.0:1.0:0.0:0.0	.	1104;1061	E7EPL3;Q7Z401	.;MYCPP_HUMAN	E	1104;1061	ENSP00000391167:G1104E;ENSP00000396830:G1061E	ENSP00000396830:G1061E	G	-	2	0	DENND4A	63770672	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.827000	0.62723	2.664000	0.90586	0.563000	0.77884	GGA		0.378	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1		NM_005848		5	31	0	0	0	1	0	5	31		
KIF23	9493	broad.mit.edu	37	15	69721528	69721528	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:69721528G>A	ENST00000260363.4	+	10	1165	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	KIF23_ENST00000352331.4_Missense_Mutation_p.E350K|KIF23_ENST00000559279.1_Missense_Mutation_p.E350K|KIF23_ENST00000395392.2_Missense_Mutation_p.E350K|KIF23_ENST00000558585.1_Missense_Mutation_p.E167K|KIF23_ENST00000537891.1_Missense_Mutation_p.E167K	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	350	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GACCAGAGCAGAAGGGAACAG	0.368																																						uc002asb.2		NaN																	0					0						c.(1048-1050)GAA>AAA		kinesin family member 23 isoform 1							105.0	93.0	97.0					15																	69721528		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69721528G>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1048G>A	15.37:g.69721528G>A	ENSP00000260363:p.Glu350Lys					KIF23_uc002asc.2_Missense_Mutation_p.E350K|KIF23_uc010bii.2_Missense_Mutation_p.E240K|KIF23_uc010ukc.1_Missense_Mutation_p.E167K|KIF23_uc010bih.1_RNA	p.E350K	NM_138555	NP_612565	Q02241	KIF23_HUMAN			10	1165	+			350			Kinesin-motor.		Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.1048G>A	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865265	0.71949	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	4.73	4.73	0.59995	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	T	0.78477	0.4289	L	0.31120	0.905	0.58432	D	0.999991	B;D;P	0.71674	0.425;0.998;0.89	B;D;P	0.78314	0.324;0.991;0.625	T	0.75929	-0.3144	10	0.25751	T	0.34	.	16.6739	0.85273	0.0:0.0:1.0:0.0	.	167;350;350	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	K	350;350;350;167	ENSP00000260363:E350K;ENSP00000304978:E350K;ENSP00000378790:E350K;ENSP00000442969:E167K	ENSP00000260363:E350K	E	+	1	0	KIF23	67508582	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	6.960000	0.76036	2.158000	0.67659	0.579000	0.79373	GAA		0.368	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding					13	16	0	0	0	1	0	13	16		
KIF23	9493	broad.mit.edu	37	15	69737198	69737198	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:69737198G>A	ENST00000260363.4	+	19	2566	c.2449G>A	c.(2449-2451)Gac>Aac	p.D817N	KIF23_ENST00000352331.4_Missense_Mutation_p.D713N|KIF23_ENST00000559279.1_Missense_Mutation_p.D713N|KIF23_ENST00000395392.2_Missense_Mutation_p.D810N|KIF23_ENST00000558585.1_Missense_Mutation_p.D530N|KIF23_ENST00000537891.1_Missense_Mutation_p.D530N	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	817	Interaction with ARF6.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CTCTGCAGGAGACAGATGGGT	0.453																																						uc002asb.2		NaN																	0					0						c.(2449-2451)GAC>AAC		kinesin family member 23 isoform 1							104.0	88.0	93.0					15																	69737198		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69737198G>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.2449G>A	15.37:g.69737198G>A	ENSP00000260363:p.Asp817Asn					KIF23_uc002asc.2_Missense_Mutation_p.D713N|KIF23_uc010bii.2_Intron|KIF23_uc010ukc.1_Missense_Mutation_p.D530N	p.D817N	NM_138555	NP_612565	Q02241	KIF23_HUMAN			19	2566	+			817					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.2449G>A	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501425	0.64298	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T	0.77620	-0.94;-0.92;-1.11	5.26	4.34	0.51931	.	0.189420	0.56097	D	0.000037	T	0.70360	0.3215	L	0.42245	1.32	0.38613	D	0.950957	B;B;B	0.26845	0.011;0.161;0.059	B;B;B	0.27380	0.027;0.079;0.036	T	0.69602	-0.5101	10	0.45353	T	0.12	.	12.0748	0.53636	0.0844:0.0:0.9156:0.0	.	530;713;817	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	N	817;713;817;530	ENSP00000260363:D817N;ENSP00000304978:D713N;ENSP00000442969:D530N	ENSP00000260363:D817N	D	+	1	0	KIF23	67524252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.550000	0.73905	1.193000	0.43086	0.655000	0.94253	GAC		0.453	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding					10	65	0	0	0	1	0	10	65		
BBS4	585	broad.mit.edu	37	15	73004593	73004593	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:73004593C>G	ENST00000268057.4	+	4	206	c.165C>G	c.(163-165)atC>atG	p.I55M	BBS4_ENST00000395205.2_Missense_Mutation_p.I63M|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.I43M	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	55	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						AGGCTGTTATCAAAGAACAGC	0.418									Bardet-Biedl syndrome																													uc002avb.2		NaN																	0					0						c.(163-165)ATC>ATG		Bardet-Biedl syndrome 4							123.0	110.0	114.0					15																	73004593		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73004593C>G	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.165C>G	15.37:g.73004593C>G	ENSP00000268057:p.Ile55Met					BBS4_uc010ukv.1_Missense_Mutation_p.I43M|BBS4_uc002avc.2_Translation_Start_Site|BBS4_uc002avd.2_Missense_Mutation_p.I63M	p.I55M	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN			4	208	+			55			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.165C>G	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976402	0.53720	.	.	ENSG00000140463	ENST00000268057;ENST00000539603;ENST00000395205	T;T;T	0.56444	0.46;0.46;0.46	5.24	4.33	0.51752	Tetratricopeptide-like helical (1);	0.046535	0.85682	D	0.000000	T	0.68320	0.2988	M	0.84082	2.675	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.73380	0.98;0.973;0.98	T	0.68447	-0.5406	10	0.45353	T	0.12	-16.5765	5.1111	0.14809	0.1668:0.6614:0.0:0.1717	.	43;63;55	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	M	55;43;63	ENSP00000268057:I55M;ENSP00000442492:I43M;ENSP00000378631:I63M	ENSP00000268057:I55M	I	+	3	3	BBS4	70791646	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	0.713000	0.25794	1.221000	0.43506	0.591000	0.81541	ATC		0.418	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2		NM_033028		6	25	0	0	0	1	0	6	25		
TICRR	90381	broad.mit.edu	37	15	90119340	90119340	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:90119340G>A	ENST00000268138.7	+	1	628	c.523G>A	c.(523-525)Gag>Aag	p.E175K	TICRR_ENST00000560985.1_Missense_Mutation_p.E175K|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	175					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GTCTGGGTGCGAGGCCCAGGC	0.662																																						uc002boe.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(523-525)GAG>AAG		leucine-rich repeat kinase 1							19.0	22.0	21.0					15																	90119340		2008	4162	6170	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90119340G>A	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.523G>A	15.37:g.90119340G>A	ENSP00000268138:p.Glu175Lys						p.E175K	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		1	523	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		175					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.523G>A	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137518	0.56936	.	.	ENSG00000140534	ENST00000268138	T	0.08370	3.1	4.21	3.27	0.37495	.	0.605337	0.17031	N	0.189728	T	0.08802	0.0218	L	0.51422	1.61	0.24115	N	0.995823	P	0.52463	0.953	B	0.41666	0.363	T	0.22068	-1.0227	10	0.33141	T	0.24	-9.2738	9.4892	0.38948	0.0:0.1559:0.6831:0.161	.	175	Q7Z2Z1	TICRR_HUMAN	K	175	ENSP00000268138:E175K	ENSP00000268138:E175K	E	+	1	0	C15orf42	87920344	0.986000	0.35501	0.996000	0.52242	0.911000	0.54048	2.684000	0.46951	0.928000	0.37168	0.467000	0.42956	GAG		0.662	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1		NM_152259		6	19	0	0	0	1	0	6	19		
FLYWCH1	84256	broad.mit.edu	37	16	2983500	2983500	+	Missense_Mutation	SNP	G	G	A	rs369027449		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr16:2983500G>A	ENST00000253928.9	+	5	1571	c.1166G>A	c.(1165-1167)aGa>aAa	p.R389K	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.R388K|FLYWCH1_ENST00000399667.2_Missense_Mutation_p.R389K			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	389						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						CCTCGGCCCAGAAAGCGAGCA	0.657																																						uc002csd.2		NaN																	0					0						c.(1165-1167)AGA>AAA		FLYWCH-type zinc finger 1 isoform a		G	LYS/ARG,LYS/ARG	0,4074		0,0,2037	13.0	19.0	17.0		1163,1163	2.3	0.0	16		17	1,8317		0,1,4158	no	missense,missense	FLYWCH1	NM_020912.1,NM_032296.2	26,26	0,1,6195	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging	388/704,388/716	2983500	1,12391	2037	4159	6196	SO:0001583	missense	84256					nucleus	DNA binding|metal ion binding	g.chr16:2983500G>A	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1166G>A	16.37:g.2983500G>A	ENSP00000253928:p.Arg389Lys					FLYWCH1_uc002csb.2_Missense_Mutation_p.R388K|FLYWCH1_uc002csc.2_Missense_Mutation_p.R388K|FLYWCH1_uc010bsv.2_Missense_Mutation_p.R64K	p.R389K	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN			5	1529	+			389					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37	c.1166G>A		.	.	.	.	.	.	.	.	.	.	G	14.95	2.687665	0.48097	0.0	1.2E-4	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	4.28	2.3	0.28687	.	.	.	.	.	T	0.37100	0.0991	N	0.24115	0.695	0.09310	N	1	B;B;D	0.61697	0.1;0.009;0.99	B;B;D	0.72982	0.038;0.005;0.979	T	0.19224	-1.0312	8	0.10902	T	0.67	.	7.3171	0.26507	0.2133:0.0:0.7867:0.0	.	389;389;388	Q4VC44-3;Q4VC44;Q4VC44-2	.;FWCH1_HUMAN;.	K	389;389;388	.	ENSP00000253928:R389K	R	+	2	0	FLYWCH1	2923501	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	0.608000	0.24223	0.527000	0.28560	-0.258000	0.10820	AGA		0.657	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1		NM_032296		5	8	0	0	0	1	0	5	8		
POLR3E	55718	broad.mit.edu	37	16	22319516	22319516	+	Silent	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr16:22319516C>G	ENST00000299853.5	+	4	302	c.135C>G	c.(133-135)ctC>ctG	p.L45L	POLR3E_ENST00000359210.4_Silent_p.L45L|POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000418581.2_Intron|POLR3E_ENST00000564209.1_Silent_p.L45L	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	45					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TTCCGCACCTCTCAGCCAAGA	0.627																																						uc002dkk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(133-135)CTC>CTG		RNA polymerase III polypeptide E							93.0	70.0	78.0					16																	22319516		2197	4300	6497	SO:0001819	synonymous_variant	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22319516C>G	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.135C>G	16.37:g.22319516C>G						POLR3E_uc002dkj.1_Silent_p.L45L|POLR3E_uc002dkm.2_Silent_p.L9L|POLR3E_uc010vbr.1_Silent_p.L45L|POLR3E_uc002dkl.2_Silent_p.L45L|POLR3E_uc010vbs.1_Intron|POLR3E_uc010vbt.1_Missense_Mutation_p.S6C	p.L45L	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	4	291	+			45					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Silent	SNP	ENST00000299853.5	37	c.135C>G	CCDS10605.1																																																																																				0.627	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1		NM_018119		10	43	0	0	0	1	0	10	43		
ERN2	10595	broad.mit.edu	37	16	23713758	23713758	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr16:23713758C>G	ENST00000457008.2	-	10	1072	c.1034G>C	c.(1033-1035)aGa>aCa	p.R345T	ERN2_ENST00000256797.4_Missense_Mutation_p.R393T					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGAGGGGTATCTAACAGCAGT	0.582																																						uc002dma.3		NaN																	0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1177-1179)AGA>ACA		endoplasmic reticulum to nucleus signalling 2							105.0	111.0	109.0					16																	23713758		2197	4300	6497	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23713758C>G	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1034G>C	16.37:g.23713758C>G	ENSP00000413812:p.Arg345Thr					ERN2_uc010bxp.2_Missense_Mutation_p.R393T|ERN2_uc010bxq.1_Missense_Mutation_p.R201T	p.R393T	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	10	1347	-			345			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000457008.2	37	c.1178G>C		.	.	.	.	.	.	.	.	.	.	C	13.71	2.317947	0.40996	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.42131	0.98;0.98	5.93	3.99	0.46301	.	0.156053	0.53938	D	0.000048	T	0.34832	0.0911	L	0.50333	1.59	0.38797	D	0.95511	B;P;P	0.50066	0.228;0.931;0.732	B;B;B	0.44224	0.063;0.444;0.283	T	0.16719	-1.0393	10	0.21014	T	0.42	.	7.3027	0.26430	0.0:0.752:0.0:0.248	.	345;345;345	Q76MJ5;E7ETG2;A5YM65	ERN2_HUMAN;.;.	T	393;345	ENSP00000256797:R393T;ENSP00000413812:R345T	ENSP00000256797:R393T	R	-	2	0	ERN2	23621259	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	1.672000	0.37523	1.524000	0.49035	0.555000	0.69702	AGA		0.582	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1				52	124	0	0	0	1	0	52	124		
ITGAL	3683	broad.mit.edu	37	16	30506048	30506048	+	Silent	SNP	C	C	T	rs547379546		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr16:30506048C>T	ENST00000356798.6	+	13	1560	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.F377F|ITGAL_ENST00000568012.1_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	460					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCTCTTATTTCGGTGGGGAGC	0.597													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18672	0.0		0.0	False		,,,				2504	0.0				NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NaN																	0				ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(1378-1380)TTC>TTT		integrin alpha L isoform a precursor	Efalizumab(DB00095)						85.0	76.0	79.0					16																	30506048		2197	4300	6497	SO:0001819	synonymous_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30506048C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1380C>T	16.37:g.30506048C>T						ITGAL_uc002dyj.3_Silent_p.F377F|ITGAL_uc010vev.1_Intron	p.F460F	NM_002209	NP_002200	P20701	ITAL_HUMAN			13	1556	+			460			FG-GAP 5.|Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.1380C>T	CCDS32433.1																																																																																				0.597	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2				12	27	0	0	0	1	0	12	27		
PHKG2	5261	broad.mit.edu	37	16	30767535	30767535	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr16:30767535G>C	ENST00000563588.1	+	7	828	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	PHKG2_ENST00000328273.7_Missense_Mutation_p.E197Q|PHKG2_ENST00000424889.3_Missense_Mutation_p.E197Q	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			TCTAGCGCCAGAGATCCTTAA	0.587																																						uc002dzk.1		NaN																	0				ovary(1)	1						c.(589-591)GAG>CAG		phosphorylase kinase, gamma 2 (testis)							171.0	163.0	166.0					16																	30767535		2197	4300	6497	SO:0001583	missense	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30767535G>C	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.589G>C	16.37:g.30767535G>C	ENSP00000455607:p.Glu197Gln					PHKG2_uc002dzi.1_Missense_Mutation_p.E197Q|PHKG2_uc002dzj.1_Missense_Mutation_p.E95Q	p.E197Q	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		7	682	+			197			Protein kinase.		A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	ENST00000563588.1	37	c.589G>C	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867884	0.91587	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T;T	0.75821	-0.97;-0.97	5.53	5.53	0.82687	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	0.49916	D	0.000138	D	0.89763	0.6809	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91902	0.5532	10	0.87932	D	0	-20.9205	18.2319	0.89937	0.0:0.0:1.0:0.0	.	197;197	P15735;P15735-2	PHKG2_HUMAN;.	Q	197	ENSP00000329968:E197Q;ENSP00000388571:E197Q	ENSP00000329968:E197Q	E	+	1	0	PHKG2	30675036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.602000	0.87976	0.650000	0.86243	GAG		0.587	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2		NM_000294		36	115	0	0	0	1	0	36	115		
CHST6	4166	broad.mit.edu	37	16	75513367	75513367	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr16:75513367G>C	ENST00000332272.4	-	3	539	c.360C>G	c.(358-360)ctC>ctG	p.L120L	CHST6_ENST00000390664.2_Silent_p.L120L|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	120					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCCACTGGAAGAGGTCGGACA	0.662																																						uc002fef.2		NaN																	0					0						c.(358-360)CTC>CTG		carbohydrate (N-acetylglucosamine 6-O)							48.0	43.0	45.0					16																	75513367		2197	4299	6496	SO:0001819	synonymous_variant	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513367G>C	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.360C>G	16.37:g.75513367G>C						CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.L120L	p.L120L	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	540	-			120			Lumenal (Potential).		D3DUK3	Silent	SNP	ENST00000332272.4	37	c.360C>G	CCDS10918.1																																																																																				0.662	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1		NM_021615		23	31	0	0	0	1	0	23	31		
ADAMTS18	170692	broad.mit.edu	37	16	77375607	77375607	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr16:77375607C>G	ENST00000282849.5	-	11	2122	c.1704G>C	c.(1702-1704)ttG>ttC	p.L568F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	568	Disintegrin.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTACCATACTCAAGCCACAAA	0.418																																						uc002ffc.3		NaN																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(1702-1704)TTG>TTC		ADAM metallopeptidase with thrombospondin type 1							74.0	70.0	71.0					16																	77375607		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77375607C>G	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1704G>C	16.37:g.77375607C>G	ENSP00000282849:p.Leu568Phe					ADAMTS18_uc010chc.1_Missense_Mutation_p.L156F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.L264F	p.L568F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			11	2123	-			568			Disintegrin.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1704G>C	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	7.106	0.574997	0.13623	.	.	ENSG00000140873	ENST00000282849	T	0.63255	-0.03	5.82	4.88	0.63580	.	0.252757	0.33419	N	0.004932	T	0.47857	0.1468	L	0.41710	1.295	0.32416	N	0.549963	B;B	0.26708	0.023;0.157	B;B	0.28916	0.037;0.096	T	0.50800	-0.8785	10	0.09843	T	0.71	.	8.0459	0.30549	0.0:0.7659:0.0:0.2341	.	568;568	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	F	568	ENSP00000282849:L568F	ENSP00000282849:L568F	L	-	3	2	ADAMTS18	75933108	0.919000	0.31177	1.000000	0.80357	0.995000	0.86356	0.003000	0.13083	1.479000	0.48272	0.655000	0.94253	TTG		0.418	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1				6	17	0	0	0	1	0	6	17		
RPA1	6117	broad.mit.edu	37	17	1747276	1747276	+	Silent	SNP	A	A	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:1747276A>T	ENST00000254719.5	+	3	257	c.147A>T	c.(145-147)ggA>ggT	p.G49G		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	49					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|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)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGAGTGATGGATTGAACACTC	0.443								Nucleotide excision repair (NER)																														uc002fto.2		NaN																	0					0						c.(145-147)GGA>GGT	NER	replication protein A1							164.0	130.0	141.0					17																	1747276		2203	4300	6503	SO:0001819	synonymous_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|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	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1747276A>T	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.147A>T	17.37:g.1747276A>T							p.G49G	NM_002945	NP_002936	P27694	RFA1_HUMAN			3	262	+			49					A8K0Y9|Q59ES9	Silent	SNP	ENST00000254719.5	37	c.147A>T	CCDS11014.1																																																																																				0.443	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2		NM_002945		10	43	0	0	0	1	0	10	43		
RPA1	6117	broad.mit.edu	37	17	1780584	1780584	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:1780584C>T	ENST00000254719.5	+	8	776	c.666C>T	c.(664-666)ttC>ttT	p.F222F	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	222					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|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)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GGAAGCTTTTCTCCCTAGAAC	0.532								Nucleotide excision repair (NER)																														uc002fto.2		NaN																	0					0						c.(664-666)TTC>TTT	NER	replication protein A1							126.0	97.0	107.0					17																	1780584		2203	4300	6503	SO:0001819	synonymous_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|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	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1780584C>T	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.666C>T	17.37:g.1780584C>T							p.F222F	NM_002945	NP_002936	P27694	RFA1_HUMAN			8	781	+			222					A8K0Y9|Q59ES9	Silent	SNP	ENST00000254719.5	37	c.666C>T	CCDS11014.1																																																																																				0.532	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2		NM_002945		7	22	0	0	0	1	0	7	22		
RAP1GAP2	23108	broad.mit.edu	37	17	2861064	2861064	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:2861064C>G	ENST00000254695.8	+	4	267	c.177C>G	c.(175-177)ttC>ttG	p.F59L	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.F40L|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.F59L|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.F59L	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	59					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CGTCGGAGTTCTTTGAGATGC	0.567																																						uc010ckd.2		NaN																	0				ovary(1)	1						c.(175-177)TTC>TTG		RAP1 GTPase activating protein 2 isoform 1							108.0	110.0	110.0					17																	2861064		1941	4142	6083	SO:0001583	missense	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2861064C>G	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.177C>G	17.37:g.2861064C>G	ENSP00000254695:p.Phe59Leu					RAP1GAP2_uc010cke.2_Missense_Mutation_p.F59L	p.F59L	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN			4	267	+			59					B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	c.177C>G	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	C	7.993	0.753727	0.15778	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.87966	-2.26;-2.32;-2.28;-2.26	5.58	3.6	0.41247	.	0.000000	0.85682	D	0.000000	D	0.85695	0.5756	N	0.24115	0.695	0.44261	D	0.997116	D;P	0.71674	0.998;0.816	D;B	0.80764	0.994;0.432	T	0.79860	-0.1625	10	0.07644	T	0.81	-13.0928	11.6018	0.51008	0.0:0.8555:0.0:0.1445	.	59;59	Q684P5-2;Q684P5	.;RPGP2_HUMAN	L	59;59;40;59	ENSP00000254695:F59L;ENSP00000389824:F59L;ENSP00000439688:F40L;ENSP00000444890:F59L	ENSP00000254695:F59L	F	+	3	2	RAP1GAP2	2807814	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	1.605000	0.36815	0.728000	0.32382	-0.254000	0.11334	TTC		0.567	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2				26	57	0	0	0	1	0	26	57		
XAF1	54739	broad.mit.edu	37	17	6663026	6663026	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:6663026G>C	ENST00000361842.3	+	3	453	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	XAF1_ENST00000346752.4_Intron|XAF1_ENST00000438512.1_Missense_Mutation_p.E72Q|XAF1_ENST00000441631.1_Intron	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	72					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						GTCCTCGCTGGAGTTTCATAA	0.507																																						uc002gdn.2		NaN																	0					0						c.(214-216)GAG>CAG		XIAP associated factor 1 isoform 1							176.0	150.0	159.0					17																	6663026		2203	4300	6503	SO:0001583	missense	54739				apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding	g.chr17:6663026G>C	X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.214G>C	17.37:g.6663026G>C	ENSP00000354822:p.Glu72Gln					XAF1_uc010clr.1_Missense_Mutation_p.E72Q|XAF1_uc002gdm.1_Missense_Mutation_p.E12Q|XAF1_uc002gdo.2_Intron|XAF1_uc002gdp.2_Missense_Mutation_p.W49C|XAF1_uc002gdq.2_Intron|XAF1_uc002gdr.2_Intron	p.E72Q	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN			3	456	+			72			TRAF-type.		A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Missense_Mutation	SNP	ENST00000361842.3	37	c.214G>C	CCDS11080.1	.	.	.	.	.	.	.	.	.	.	G	6.122	0.390818	0.11581	.	.	ENSG00000132530	ENST00000361842;ENST00000438512	T;T	0.28454	1.61;1.61	3.14	-0.451	0.12214	Zinc finger, TRAF-type (1);	0.659026	0.12861	U	0.433104	T	0.29256	0.0728	L	0.52126	1.63	0.09310	N	1	B;P	0.49307	0.124;0.922	B;P	0.51055	0.025;0.657	T	0.19877	-1.0292	10	0.16420	T	0.52	.	4.2567	0.10721	0.232:0.1971:0.5709:0.0	.	72;72	C9J7Z8;Q6GPH4	.;XAF1_HUMAN	Q	72	ENSP00000354822:E72Q;ENSP00000406233:E72Q	ENSP00000354822:E72Q	E	+	1	0	XAF1	6603750	0.939000	0.31865	0.001000	0.08648	0.009000	0.06853	0.758000	0.26447	-0.172000	0.10779	0.462000	0.41574	GAG		0.507	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5		NM_017523		12	48	0	0	0	1	0	12	48		
ZBTB4	57659	broad.mit.edu	37	17	7369149	7369149	+	Silent	SNP	C	C	G	rs143028324		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:7369149C>G	ENST00000311403.4	-	3	1311	c.972G>C	c.(970-972)ctG>ctC	p.L324L	ZBTB4_ENST00000380599.4_Silent_p.L324L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	324					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TGTGTCTCTTCAGACTGGACA	0.607																																						uc002ghc.3		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(970-972)CTG>CTC		zinc finger and BTB domain containing 4							81.0	65.0	70.0					17																	7369149		2203	4300	6503	SO:0001819	synonymous_variant	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7369149C>G	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.972G>C	17.37:g.7369149C>G						ZBTB4_uc002ghd.3_Silent_p.L324L	p.L324L	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	3	1222	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	324			C2H2-type 2.		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	ENST00000311403.4	37	c.972G>C	CCDS11107.1																																																																																				0.607	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2		NM_020899		18	33	0	0	0	1	0	18	33		
TP53	7157	broad.mit.edu	37	17	7577511	7577511	+	Missense_Mutation	SNP	A	A	T	rs28934577		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:7577511A>T	ENST00000269305.4	-	7	959	c.770T>A	c.(769-771)cTg>cAg	p.L257Q	TP53_ENST00000413465.2_Missense_Mutation_p.L257Q|TP53_ENST00000445888.2_Missense_Mutation_p.L257Q|TP53_ENST00000359597.4_Missense_Mutation_p.L257Q|TP53_ENST00000455263.2_Missense_Mutation_p.L257Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.L257Q	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	257	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> P (in sporadic cancers; somatic mutation).|L -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934577).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L257Q(8)|p.L257P(8)|p.L257fs*6(2)|p.?(1)|p.T256fs*87(1)|p.L257R(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)	GGAGTCTTCCAGTGTGATGAT	0.582		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		29	Substitution - Missense(17)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	p.L257P(8)|p.0?(7)|p.L257Q(7)|p.L257V(4)|p.L257L(2)|p.L257fs*6(2)|p.L257fs*88(1)|p.?(1)|p.L257fs*7(1)|p.T256fs*87(1)|p.L257R(1)	large_intestine(4)|oesophagus(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|central_nervous_system(2)|liver(2)|upper_aerodigestive_tract(1)|stomach(1)|biliary_tract(1)|kidney(1)|breast(1)|skin(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CD941800|CM941332	TP53	D|M	rs28934577	c.(769-771)CTG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							139.0	99.0	113.0					17																	7577511		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577511A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.770T>A	17.37:g.7577511A>T	ENSP00000269305:p.Leu257Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.L257Q|TP53_uc002gih.2_Missense_Mutation_p.L257Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.L125Q|TP53_uc010cng.1_Missense_Mutation_p.L125Q|TP53_uc002gii.1_Missense_Mutation_p.L125Q|TP53_uc010cnh.1_Missense_Mutation_p.L257Q|TP53_uc010cni.1_Missense_Mutation_p.L257Q|TP53_uc002gij.2_Missense_Mutation_p.L257Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.L164Q|TP53_uc002gio.2_Missense_Mutation_p.L125Q	p.L257Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	964	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	257		L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.770T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.019080	0.54576	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99905	-7.7;-7.7;-7.7;-7.7;-7.7;-7.7;-7.7	4.62	3.53	0.40419	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.99891	0.9948	M	0.88640	2.97	0.58432	A	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;0.999;0.998;1.0	D	0.96301	0.9221	9	0.87932	D	0	-7.3975	9.0966	0.36642	0.8362:0.0:0.0:0.1638	rs28934577	257;257;257;257;257	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	Q	257;257;257;257;257;257;246;125	ENSP00000410739:L257Q;ENSP00000352610:L257Q;ENSP00000269305:L257Q;ENSP00000398846:L257Q;ENSP00000391127:L257Q;ENSP00000391478:L257Q;ENSP00000425104:L125Q	ENSP00000269305:L257Q	L	-	2	0	TP53	7518236	1.000000	0.71417	0.981000	0.43875	0.405000	0.30901	9.087000	0.94110	0.889000	0.36185	0.379000	0.24179	CTG		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		7	26	0	0	0	1	0	7	26		
TP53	7157	broad.mit.edu	37	17	7579529	7579529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:7579529C>T	ENST00000269305.4	-	4	347	c.158G>A	c.(157-159)tGg>tAg	p.W53*	TP53_ENST00000413465.2_Nonsense_Mutation_p.W53*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W53*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W53*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W53*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.W53*	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	53	Interaction with HRMT1L2.		W -> C (in sporadic cancers; somatic mutation).|W -> G (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.W53*(4)|p.E51fs*59(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.P13fs*18(1)|p.S33fs*23(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)	TTCAGTGAACCATTGTTCAAT	0.592		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		17	Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - Nonsense(4)	p.W53*(10)|p.0?(7)|p.W53C(2)|p.E51fs*59(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.W53fs*1(1)|p.P13fs*18(1)|p.S33fs*23(1)	bone(4)|central_nervous_system(3)|upper_aerodigestive_tract(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|breast(1)|prostate(1)|pancreas(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.(157-159)TGG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							165.0	165.0	165.0					17																	7579529		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7579529C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.158G>A	17.37:g.7579529C>T	ENSP00000269305:p.Trp53*	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_Nonsense_Mutation_p.W53*|TP53_uc002gih.2_Nonsense_Mutation_p.W53*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.W53*|TP53_uc010cni.1_Nonsense_Mutation_p.W53*|TP53_uc002gij.2_Nonsense_Mutation_p.W53*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.W14*|TP53_uc010cnk.1_Nonsense_Mutation_p.W68*	p.W53*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	352	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	53		W -> C (in sporadic cancers; somatic mutation).|W -> G (in a sporadic cancer; somatic mutation).	TADII.|Interaction with HRMT1L2.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.158G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.698823	0.48307	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.95	1.81	0.25067	.	12.513700	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0528	8.5999	0.33738	0.4355:0.5645:0.0:0.0	.	.	.	.	X	53	.	ENSP00000269305:W53X	W	-	2	0	TP53	7520254	0.022000	0.18835	0.007000	0.13788	0.007000	0.05969	0.398000	0.20899	0.545000	0.28902	0.561000	0.74099	TGG		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		49	128	0	0	0	1	0	49	128		
MYH1	4619	broad.mit.edu	37	17	10419630	10419630	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:10419630G>A	ENST00000226207.5	-	4	328	c.234C>T	c.(232-234)ttC>ttT	p.F78F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	78					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGTTCATGGGGAAGACTTGGT	0.468																																						uc002gmo.2		NaN																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(232-234)TTC>TTT		myosin, heavy chain 1, skeletal muscle, adult							294.0	265.0	275.0					17																	10419630		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419630G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.234C>T	17.37:g.10419630G>A						uc002gml.1_Intron	p.F78F	NM_005963	NP_005954	P12882	MYH1_HUMAN			4	328	-			78			Myosin head-like.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.234C>T	CCDS11155.1																																																																																				0.468	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1		NM_005963		16	129	0	0	0	1	0	16	129		
SLC46A1	113235	broad.mit.edu	37	17	26731743	26731743	+	Silent	SNP	G	G	C	rs188529539	byFrequency	TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:26731743G>C	ENST00000440501.1	-	2	1067	c.972C>G	c.(970-972)ctC>ctG	p.L324L	SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.2_ENST00000580714.1_RNA|CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000321666.5_Silent_p.L324L	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	324					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	AGTACTGCAGGAGCTTCAGGG	0.577																																						uc002hbf.1		NaN																	0					0						c.(970-972)CTC>CTG		proton-coupled folate transporter	Folic Acid(DB00158)						50.0	55.0	53.0					17																	26731743		2049	4201	6250	SO:0001819	synonymous_variant	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26731743G>C	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.972C>G	17.37:g.26731743G>C						SLC46A1_uc002hbg.1_Silent_p.L324L|SLC46A1_uc010wak.1_Silent_p.L324L	p.L324L	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	1068	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		324			Helical; (Potential).		Q1HE20|Q86T92|Q8TEG3|Q96FL0	Silent	SNP	ENST00000440501.1	37	c.972C>G																																																																																					0.577	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_080669		13	31	0	0	0	1	0	13	31		
SLC46A1	113235	broad.mit.edu	37	17	26732064	26732064	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:26732064G>A	ENST00000440501.1	-	2	746	c.651C>T	c.(649-651)gcC>gcT	p.A217A	SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.2_ENST00000580714.1_RNA|CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000321666.5_Silent_p.A217A	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	217					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	CTATCAGCAAGGCCAAGGCCA	0.607																																						uc002hbf.1		NaN																	0					0						c.(649-651)GCC>GCT		proton-coupled folate transporter	Folic Acid(DB00158)						67.0	73.0	71.0					17																	26732064		1971	4158	6129	SO:0001819	synonymous_variant	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26732064G>A	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.651C>T	17.37:g.26732064G>A						SLC46A1_uc002hbg.1_Silent_p.A217A|SLC46A1_uc010wak.1_Silent_p.A217A	p.A217A	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	747	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		217			Helical; (Potential).		Q1HE20|Q86T92|Q8TEG3|Q96FL0	Silent	SNP	ENST00000440501.1	37	c.651C>T																																																																																					0.607	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_080669		16	62	0	0	0	1	0	16	62		
TEFM	79736	broad.mit.edu	37	17	29226414	29226414	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:29226414C>T	ENST00000581216.1	-	4	1477	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	TEFM_ENST00000579183.1_5'Flank|TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	286					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										ATCATCAGTTCAAAATGCTTC	0.468																																						uc002hfu.2		NaN																	0				ovary(1)	1						c.(856-858)GAA>AAA		hypothetical protein LOC79736							128.0	123.0	125.0					17																	29226414		1911	4137	6048	SO:0001583	missense	79736				oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding	g.chr17:29226414C>T		CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 42"""	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.856G>A	17.37:g.29226414C>T	ENSP00000462963:p.Glu286Lys					C17orf42_uc002hfv.2_RNA	p.E286K	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN			4	926	-		all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	286					E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Missense_Mutation	SNP	ENST00000581216.1	37	c.856G>A	CCDS42291.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963992	0.53507	.	.	ENSG00000172171	ENST00000306049	.	.	.	5.97	0.452	0.16634	Ribonuclease H-like (1);	0.495416	0.24111	N	0.041448	T	0.46073	0.1374	L	0.51422	1.61	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.29150	-1.0021	9	0.52906	T	0.07	-2.7722	7.6006	0.28073	0.0:0.5972:0.2179:0.1849	.	286	Q96QE5	TEFM_HUMAN	K	286	.	ENSP00000306574:E286K	E	-	1	0	C17orf42	26250540	0.926000	0.31397	0.859000	0.33776	0.981000	0.71138	1.248000	0.32827	-0.083000	0.12618	-0.133000	0.14855	GAA		0.468	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444498.1		NM_024683		34	69	0	0	0	1	0	34	69		
TMEM132E	124842	broad.mit.edu	37	17	32959762	32959762	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:32959762G>C	ENST00000321639.5	+	7	1580	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	418						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GAGTGGAAAAGAGTCTCGAGG	0.567																																						uc002hif.2		NaN																	0				central_nervous_system(1)	1						c.(1252-1254)GAG>CAG		transmembrane protein 132E precursor							188.0	148.0	161.0					17																	32959762		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32959762G>C	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1252G>C	17.37:g.32959762G>C	ENSP00000316532:p.Glu418Gln						p.E418Q	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	7	1580	+			418			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.1252G>C	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952094	0.92660	.	.	ENSG00000181291	ENST00000321639	T	0.18174	2.23	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.48370	0.1496	M	0.86573	2.825	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.58267	-0.7666	10	0.87932	D	0	-31.8087	16.6219	0.84932	0.0:0.0:1.0:0.0	.	418	Q6IEE7	T132E_HUMAN	Q	418	ENSP00000316532:E418Q	ENSP00000316532:E418Q	E	+	1	0	TMEM132E	29983875	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.657000	0.98554	2.388000	0.81334	0.551000	0.68910	GAG		0.567	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2		NM_207313		18	53	0	0	0	1	0	18	53		
NLE1	54475	broad.mit.edu	37	17	33463472	33463472	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:33463472G>A	ENST00000442241.4	-	8	912	c.873C>T	c.(871-873)aaC>aaT	p.N291N	NLE1_ENST00000593176.1_5'Flank|NLE1_ENST00000360831.5_Silent_p.N249N|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	291					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GGGCCATGGTGTTCACCCAGT	0.607																																						uc002hiy.1		NaN																	0				breast(3)|ovary(1)	4						c.(871-873)AAC>AAT		Notchless gene homolog isoform a							91.0	94.0	93.0					17																	33463472		2203	4300	6503	SO:0001819	synonymous_variant	54475					nucleolus		g.chr17:33463472G>A		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.873C>T	17.37:g.33463472G>A						NLE1_uc010ctn.1_5'UTR|NLE1_uc002hiz.1_5'UTR	p.N291N	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN			8	901	-		Ovarian(249;0.17)	291					O60868|Q59GJ8|Q9BU54	Silent	SNP	ENST00000442241.4	37	c.873C>T	CCDS11291.1	.	.	.	.	.	.	.	.	.	.	G	9.877	1.200611	0.22121	.	.	ENSG00000073536	ENST00000436188	.	.	.	5.44	1.25	0.21368	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45026	-0.9289	4	.	.	.	-43.3595	7.9354	0.29927	0.4038:0.0:0.5962:0.0	.	.	.	.	I	71	.	.	T	-	2	0	NLE1	30487585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.994000	0.40757	0.132000	0.18615	-0.140000	0.14226	ACA		0.607	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2		NM_018096		30	119	0	0	0	1	0	30	119		
KRT15	3866	broad.mit.edu	37	17	39671846	39671846	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:39671846C>T	ENST00000254043.3	-	6	4710	c.1125G>A	c.(1123-1125)ctG>ctA	p.L375L	KRT15_ENST00000393981.3_Silent_p.L210L|KRT15_ENST00000393974.3_Silent_p.L210L|KRT15_ENST00000393976.2_Silent_p.L375L	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	375	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GGAGCTCACTCAGCTGGGCCT	0.592																																						uc002hwy.2		NaN																	0					0						c.(1123-1125)CTG>CTA		keratin 15							99.0	85.0	90.0					17																	39671846		2203	4300	6503	SO:0001819	synonymous_variant	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39671846C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.1125G>A	17.37:g.39671846C>T						KRT15_uc002hwz.2_Silent_p.L277L|KRT15_uc002hxa.2_Silent_p.L210L|KRT15_uc002hxb.1_Silent_p.L210L	p.L375L	NM_002275	NP_002266	P19012	K1C15_HUMAN			6	1316	-		Breast(137;0.000286)	375			Rod.|Coil 2.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Silent	SNP	ENST00000254043.3	37	c.1125G>A	CCDS11398.1																																																																																				0.592	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1		NM_002275		29	56	0	0	0	1	0	29	56		
KRT15	3866	broad.mit.edu	37	17	39673157	39673157	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:39673157C>T	ENST00000254043.3	-	3	4226	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	KRT15_ENST00000393981.3_Missense_Mutation_p.R49Q|KRT15_ENST00000393974.3_Missense_Mutation_p.R49Q|KRT15_ENST00000393976.2_Missense_Mutation_p.R214Q	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	214	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ATCCAGGACTCGGCGCAAGCC	0.592																																						uc002hwy.2		NaN																	0					0						c.(640-642)CGA>CAA		keratin 15							69.0	66.0	67.0					17																	39673157		2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673157C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.641G>A	17.37:g.39673157C>T	ENSP00000254043:p.Arg214Gln					KRT15_uc002hwz.2_Missense_Mutation_p.R116Q|KRT15_uc002hxa.2_Missense_Mutation_p.R49Q|KRT15_uc002hxb.1_Missense_Mutation_p.R49Q	p.R214Q	NM_002275	NP_002266	P19012	K1C15_HUMAN			3	832	-		Breast(137;0.000286)	214			Rod.|Coil 1B.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.641G>A	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106194	0.56291	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.87	3.9	0.45041	Filament (1);	0.000000	0.47852	D	0.000219	D	0.91078	0.7192	M	0.62154	1.92	0.25595	N	0.986652	D;P;P	0.67145	0.996;0.902;0.902	P;B;P	0.62560	0.904;0.34;0.54	D	0.83797	0.0234	10	0.72032	D	0.01	.	7.753	0.28909	0.0:0.7365:0.0:0.2635	.	49;214;214	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	Q	214;49;214;49;49	ENSP00000254043:R214Q;ENSP00000377544:R49Q;ENSP00000377546:R214Q;ENSP00000377550:R49Q;ENSP00000409282:R49Q	ENSP00000254043:R214Q	R	-	2	0	KRT15	36926683	0.000000	0.05858	0.998000	0.56505	0.136000	0.21042	-0.429000	0.06982	1.275000	0.44379	0.655000	0.94253	CGA		0.592	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1		NM_002275		31	60	0	0	0	1	0	31	60		
MLX	6945	broad.mit.edu	37	17	40723603	40723603	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:40723603G>A	ENST00000246912.4	+	8	932	c.879G>A	c.(877-879)ttG>ttA	p.L293L	MLX_ENST00000346833.4_Silent_p.L209L|MLX_ENST00000435881.2_Silent_p.L239L	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	293					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TGCACCAATTGAAAAACCAGC	0.537																																					GBM(121;657 1601 4665 24731 34640)	uc002iag.2		NaN																	0					0						c.(877-879)TTG>TTA		transcription factor-like protein 4 isoform							184.0	175.0	178.0					17																	40723603		2203	4300	6503	SO:0001819	synonymous_variant	6945				energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr17:40723603G>A	AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	11645	protein-coding gene	gene with protein product		602976	"""transcription factor-like 4"", ""MAX-like protein X"""	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.879G>A	17.37:g.40723603G>A						MLX_uc002iaf.2_Silent_p.L239L|MLX_uc002iah.2_Silent_p.L209L	p.L293L	NM_170607	NP_733752	Q9UH92	MLX_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	8	944	+		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)	293					A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Silent	SNP	ENST00000246912.4	37	c.879G>A	CCDS11430.1																																																																																				0.537	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1		NM_170607		52	122	0	0	0	1	0	52	122		
WNK4	65266	broad.mit.edu	37	17	40933043	40933043	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:40933043G>A	ENST00000246914.5	+	1	348	c.327G>A	c.(325-327)acG>acA	p.T109T		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	109					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCGAGGGCACGTGGACCGAGG	0.731																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NaN																	0				ovary(3)|skin(3)|stomach(1)	7						c.(325-327)ACG>ACA		WNK lysine deficient protein kinase 4							10.0	12.0	12.0					17																	40933043		2176	4261	6437	SO:0001819	synonymous_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40933043G>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.327G>A	17.37:g.40933043G>A						WNK4_uc010wgx.1_Translation_Start_Site|WNK4_uc002ibk.1_5'Flank	p.T109T	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	1	348	+		Breast(137;0.000143)	109					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	c.327G>A	CCDS11439.1																																																																																				0.731	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1				5	17	0	0	0	1	0	5	17		
CACNA1G	8913	broad.mit.edu	37	17	48696036	48696036	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:48696036C>T	ENST00000359106.5	+	33	5448	c.5448C>T	c.(5446-5448)gaC>gaT	p.D1816D	CACNA1G_ENST00000507896.1_Silent_p.D1805D|CACNA1G_ENST00000515165.1_Silent_p.D1816D|CACNA1G_ENST00000358244.5_Silent_p.D1782D|CACNA1G_ENST00000514717.1_Silent_p.D1759D|CACNA1G_ENST00000352832.5_Silent_p.D1782D|CACNA1G_ENST00000514079.1_Silent_p.D1823D|CACNA1G_ENST00000507336.1_Silent_p.D1805D|CACNA1G_ENST00000513964.1_Silent_p.D1771D|CACNA1G_ENST00000514181.1_Silent_p.D1791D|CACNA1G_ENST00000507609.1_Silent_p.D1809D|CACNA1G_ENST00000513689.2_Silent_p.D1771D|CACNA1G_ENST00000512389.1_Silent_p.D1805D|CACNA1G_ENST00000507510.2_Silent_p.D1816D|CACNA1G_ENST00000502264.1_Silent_p.D1793D|CACNA1G_ENST00000510366.1_Silent_p.D1764D|CACNA1G_ENST00000429973.2_Silent_p.D1798D|CACNA1G_ENST00000360761.4_Silent_p.D1793D|CACNA1G_ENST00000515411.1_Silent_p.D1798D|CACNA1G_ENST00000442258.2_Silent_p.D1775D|CACNA1G_ENST00000505165.1_Silent_p.D1816D|CACNA1G_ENST00000354983.4_Silent_p.D1782D|CACNA1G_ENST00000503485.1_Silent_p.D1782D|CACNA1G_ENST00000510115.1_Silent_p.D1782D|CACNA1G_ENST00000515765.1_Silent_p.D1805D	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1816					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGACTGTGACCAGGAGTCCA	0.577																																						uc002irk.1		NaN																	0				breast(1)	1						c.(5446-5448)GAC>GAT		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						49.0	48.0	48.0					17																	48696036		2113	4219	6332	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48696036C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5448C>T	17.37:g.48696036C>T						CACNA1G_uc002irj.1_Silent_p.D1782D|CACNA1G_uc002irl.1_Silent_p.D1793D|CACNA1G_uc002irm.1_Silent_p.D1782D|CACNA1G_uc002irn.1_Silent_p.D1775D|CACNA1G_uc002iro.1_Silent_p.D1782D|CACNA1G_uc002irp.1_Silent_p.D1816D|CACNA1G_uc002irq.1_Silent_p.D1793D|CACNA1G_uc002irr.1_Silent_p.D1816D|CACNA1G_uc002irs.1_Silent_p.D1805D|CACNA1G_uc002irt.1_Silent_p.D1798D|CACNA1G_uc002irv.1_Silent_p.D1805D|CACNA1G_uc002irw.1_Silent_p.D1793D|CACNA1G_uc002iru.1_Silent_p.D1782D|CACNA1G_uc002irx.1_Silent_p.D1729D|CACNA1G_uc002iry.1_Silent_p.D1718D|CACNA1G_uc002irz.1_Silent_p.D1722D|CACNA1G_uc002isa.1_Silent_p.D1695D|CACNA1G_uc002isb.1_Silent_p.D1736D|CACNA1G_uc002isc.1_Silent_p.D1718D|CACNA1G_uc002isd.1_Silent_p.D1704D|CACNA1G_uc002ise.1_Silent_p.D1684D|CACNA1G_uc002isf.1_Silent_p.D1711D|CACNA1G_uc002isg.1_Silent_p.D1677D|CACNA1G_uc002ish.1_Silent_p.D1684D|CACNA1G_uc002isi.1_Silent_p.D1672D	p.D1816D	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		33	5820	+	Breast(11;6.7e-17)		1816			IV.|Extracellular (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.5448C>T	CCDS45730.1																																																																																				0.577	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1		NM_018896		4	27	0	0	0	1	0	4	27		
OR4D1	26689	broad.mit.edu	37	17	56233150	56233150	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:56233150C>T	ENST00000268912.5	+	1	657	c.636C>T	c.(634-636)ctC>ctT	p.L212L		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	212					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTGGTTCCTCCTCCTTCTGA	0.532																																						uc010wno.1		NaN																	0				ovary(1)	1						c.(634-636)CTC>CTT		olfactory receptor, family 4, subfamily D,							140.0	132.0	135.0					17																	56233150		2203	4300	6503	SO:0001819	synonymous_variant	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56233150C>T	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.636C>T	17.37:g.56233150C>T						MSX2P1_uc002ivn.2_5'Flank	p.L212L	NM_012374	NP_036506	Q15615	OR4D1_HUMAN			1	636	+			212			Helical; Name=5; (Potential).		B2RN14|Q8NGB1|Q96R76	Silent	SNP	ENST00000268912.5	37	c.636C>T	CCDS42365.1																																																																																				0.532	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1				24	53	0	0	0	1	0	24	53		
CYB561	1534	broad.mit.edu	37	17	61514723	61514723	+	Silent	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:61514723G>T	ENST00000392976.1	-	2	485	c.186C>A	c.(184-186)atC>atA	p.I62I	CYB561_ENST00000582034.1_Silent_p.I33I|CYB561_ENST00000360793.3_Silent_p.I62I|CYB561_ENST00000392975.2_Silent_p.I62I|CYB561_ENST00000582997.1_Silent_p.I69I|CYB561_ENST00000542042.1_Silent_p.I129I|CYB561_ENST00000448884.2_Silent_p.I62I|CYB561_ENST00000581573.1_Silent_p.I62I|CYB561_ENST00000584031.1_Silent_p.I62I|CYB561_ENST00000582297.1_Silent_p.I62I|CYB561_ENST00000581163.1_5'Flank	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	62	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		CCTGCAGGAAGATCAGGCCTA	0.647																																						uc002jap.2		NaN																	0				ovary(1)	1						c.(184-186)ATC>ATA		cytochrome b-561							73.0	72.0	72.0					17																	61514723		2203	4300	6503	SO:0001819	synonymous_variant	1534				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding	g.chr17:61514723G>T		CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"""Cytochrome b genes"""	2571	protein-coding gene	gene with protein product	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.186C>A	17.37:g.61514723G>T						CYB561_uc002jaq.2_Silent_p.I108I|CYB561_uc002jar.2_Silent_p.I62I|CYB561_uc002jas.2_Silent_p.I62I|CYB561_uc010ddt.2_Silent_p.I62I|CYB561_uc002jat.2_Silent_p.I62I|CYB561_uc010wpf.1_Silent_p.I62I|CYB561_uc010wpg.1_Silent_p.I33I	p.I62I	NM_001915	NP_001906	P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	1	588	-			62			Helical; (Potential).|Cytochrome b561.		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Silent	SNP	ENST00000392976.1	37	c.186C>A	CCDS11636.1																																																																																				0.647	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1		NM_001915		16	47	1	0	6.31663e-08	1	6.54403e-08	16	47		
LRRC37A3	374819	broad.mit.edu	37	17	62864606	62864606	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:62864606G>A	ENST00000584306.1	-	9	3557	c.3027C>T	c.(3025-3027)ctC>ctT	p.L1009L	LRRC37A3_ENST00000400877.3_Silent_p.L47L|LRRC37A3_ENST00000319651.5_Silent_p.L1009L|LRRC37A3_ENST00000339474.5_Silent_p.L127L	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1009						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CAGTCATCATGAGAATGTTCT	0.328																																						uc002jey.2		NaN																	0					0						c.(3025-3027)CTC>CTT		leucine rich repeat containing 37, member A3							74.0	80.0	78.0					17																	62864606		2203	4286	6489	SO:0001819	synonymous_variant	374819					integral to membrane		g.chr17:62864606G>A	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3027C>T	17.37:g.62864606G>A						LRRC37A3_uc010wqg.1_Silent_p.L127L|LRRC37A3_uc010wqf.1_Silent_p.L47L|LRRC37A3_uc010dek.1_Silent_p.L15L	p.L1009L	NM_199340	NP_955372	O60309	L37A3_HUMAN			9	3558	-			1009			Extracellular (Potential).|LRR 9.		Q49A01|Q49A80|Q8NB33	Silent	SNP	ENST00000584306.1	37	c.3027C>T	CCDS32708.1																																																																																				0.328	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1		NM_199340		40	105	0	0	0	1	0	40	105		
LRRC37A3	374819	broad.mit.edu	37	17	62865241	62865241	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:62865241G>C	ENST00000584306.1	-	8	3480	c.2950C>G	c.(2950-2952)Ctc>Gtc	p.L984V	RN7SL404P_ENST00000582421.1_RNA|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.L22V|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.L984V|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.L102V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	984						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AATTTAAAGAGATATGGATCT	0.299																																						uc002jey.2		NaN																	0					0						c.(2950-2952)CTC>GTC		leucine rich repeat containing 37, member A3							115.0	144.0	134.0					17																	62865241		1509	2706	4215	SO:0001583	missense	374819					integral to membrane		g.chr17:62865241G>C	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.2950C>G	17.37:g.62865241G>C	ENSP00000464535:p.Leu984Val					LRRC37A3_uc010wqg.1_Missense_Mutation_p.L102V|LRRC37A3_uc010wqf.1_Missense_Mutation_p.L22V|LRRC37A3_uc010dek.1_Translation_Start_Site	p.L984V	NM_199340	NP_955372	O60309	L37A3_HUMAN			8	3481	-			984			Extracellular (Potential).|LRR 8.		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.2950C>G	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	G	0.045	-1.270189	0.01421	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000319651	D;T;D	0.96587	-4.06;1.12;-1.94	2.64	0.513	0.17000	.	.	.	.	.	D	0.96531	0.8868	L	0.61218	1.895	0.09310	N	1	D;D	0.71674	0.998;0.993	D;D	0.74674	0.984;0.967	D	0.89294	0.3621	9	0.72032	D	0.01	.	3.9984	0.09569	0.406:0.0:0.594:0.0	.	102;984	B4DG20;O60309	.;L37A3_HUMAN	V	65;22;984	ENSP00000344298:L65V;ENSP00000383674:L22V;ENSP00000325713:L984V	ENSP00000325713:L984V	L	-	1	0	LRRC37A3	60295703	0.206000	0.23470	0.648000	0.29521	0.165000	0.22458	0.082000	0.14847	0.409000	0.25649	0.205000	0.17691	CTC		0.299	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1		NM_199340		40	126	0	0	0	1	0	40	126		
ABCA10	10349	broad.mit.edu	37	17	67145021	67145021	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:67145021C>T	ENST00000269081.4	-	40	5488	c.4579G>A	c.(4579-4581)Gat>Aat	p.D1527N	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1527					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TCAATTTTATCATCAACATTT	0.348																																						uc010dfa.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(4579-4581)GAT>AAT		ATP-binding cassette, sub-family A, member 10							83.0	85.0	85.0					17																	67145021		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67145021C>T	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4579G>A	17.37:g.67145021C>T	ENSP00000269081:p.Asp1527Asn					ABCA10_uc002jhz.2_RNA|ABCA10_uc010wqs.1_Missense_Mutation_p.D519N|ABCA10_uc010wqt.1_RNA	p.D1527N	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			40	5458	-	Breast(10;6.95e-12)		1527					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.4579G>A	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044413	0.36085	.	.	ENSG00000154263	ENST00000269081	T	0.59364	0.27	3.81	3.81	0.43845	.	0.547449	0.13266	U	0.400904	T	0.44705	0.1306	L	0.36672	1.1	0.80722	D	1	B;P	0.40794	0.271;0.729	B;B	0.37451	0.119;0.25	T	0.26849	-1.0091	10	0.25751	T	0.34	.	10.323	0.43777	0.1976:0.8024:0.0:0.0	.	519;1527	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	N	1527	ENSP00000269081:D1527N	ENSP00000269081:D1527N	D	-	1	0	ABCA10	64656616	0.461000	0.25783	0.431000	0.26735	0.069000	0.16628	0.971000	0.29396	1.822000	0.53115	0.552000	0.68991	GAT		0.348	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4		NM_080282		18	71	0	0	0	1	0	18	71		
MRPL38	64978	broad.mit.edu	37	17	73895341	73895341	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:73895341C>G	ENST00000309352.3	-	8	1441	c.904G>C	c.(904-906)Gat>Cat	p.D302H	RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000585475.1_5'Flank|TRIM65_ENST00000269383.3_5'Flank|MRPL38_ENST00000409963.3_Missense_Mutation_p.D118H	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	302						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGTAGAAATCAAAAGTGCGG	0.557																																						uc010wso.1		NaN																	0				pancreas(1)	1						c.(904-906)GAT>CAT		mitochondrial ribosomal protein L38 precursor							50.0	43.0	45.0					17																	73895341		2200	4297	6497	SO:0001583	missense	64978					actin cytoskeleton|mitochondrion|ribosome		g.chr17:73895341C>G	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"""Mitochondrial ribosomal proteins / large subunits"""	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.904G>C	17.37:g.73895341C>G	ENSP00000308275:p.Asp302His					FBF1_uc002jqa.1_RNA|TRIM65_uc002jpx.2_5'Flank|MRPL38_uc002jpz.1_RNA	p.D302H	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1129	-			302					B3KN96|Q96Q66|Q9P0B9	Missense_Mutation	SNP	ENST00000309352.3	37	c.904G>C	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391826	0.83011	.	.	ENSG00000204316	ENST00000309352;ENST00000409963	T;T	0.46451	1.9;0.87	5.26	4.28	0.50868	.	0.318460	0.35615	N	0.003098	T	0.67869	0.2939	M	0.85373	2.75	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.74077	-0.3781	10	0.56958	D	0.05	-11.7804	15.832	0.78760	0.0:0.8637:0.1363:0.0	.	302	Q96DV4	RM38_HUMAN	H	302;118	ENSP00000308275:D302H;ENSP00000387085:D118H	ENSP00000308275:D302H	D	-	1	0	MRPL38	71406936	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.467000	0.66737	1.196000	0.43129	0.511000	0.50034	GAT		0.557	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1		NM_032478		5	14	0	0	0	1	0	5	14		
RNF213	57674	broad.mit.edu	37	17	78314035	78314035	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:78314035C>T	ENST00000582970.1	+	26	6011	c.5868C>T	c.(5866-5868)ctC>ctT	p.L1956L	RNF213_ENST00000336301.6_Silent_p.L29L|RNF213_ENST00000508628.2_Silent_p.L2005L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	1956					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGCACCCCTCGAGGCCATCC	0.632																																						uc002jyh.1		NaN																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(85-87)CTC>CTT		ring finger protein 213							77.0	58.0	64.0					17																	78314035		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78314035C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.5868C>T	17.37:g.78314035C>T							p.L29L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		1	310	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.87C>T	CCDS58606.1																																																																																				0.632	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		NM_020914		11	33	0	0	0	1	0	11	33		
HGS	9146	broad.mit.edu	37	17	79667810	79667810	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:79667810C>T	ENST00000329138.4	+	20	2237	c.2102C>T	c.(2101-2103)tCa>tTa	p.S701L	SLC25A10_ENST00000571730.1_5'Flank|MRPL12_ENST00000333676.3_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA|SLC25A10_ENST00000541223.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	701	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GGGAGCCAGTCAGTCTCCATG	0.637																																						uc002kbg.2		NaN																	0				ovary(1)	1						c.(2101-2103)TCA>TTA		hepatocyte growth factor-regulated tyrosine							44.0	41.0	42.0					17																	79667810		2203	4300	6503	SO:0001583	missense	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79667810C>T	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2102C>T	17.37:g.79667810C>T	ENSP00000331201:p.Ser701Leu					MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank	p.S701L	NM_004712	NP_004703	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		20	2179	+	all_neural(118;0.0878)|all_lung(278;0.23)		701			Interaction with NF2.|Gln-rich.		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	c.2102C>T	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040221	0.75732	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.39406	1.08	4.6	4.6	0.57074	.	0.909002	0.09081	U	0.851279	T	0.41650	0.1168	L	0.44542	1.39	0.32920	D	0.515666	B	0.15719	0.014	B	0.16289	0.015	T	0.42932	-0.9422	10	0.45353	T	0.12	-0.2884	16.5763	0.84648	0.0:1.0:0.0:0.0	.	701	O14964	HGS_HUMAN	L	701;615	ENSP00000331201:S701L	ENSP00000331201:S701L	S	+	2	0	HGS	77278215	.	.	0.300000	0.25030	0.968000	0.65278	.	.	2.374000	0.81015	0.561000	0.74099	TCA		0.637	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1		NM_004712		13	35	0	0	0	1	0	13	35		
CSNK1D	1453	broad.mit.edu	37	17	80223668	80223668	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:80223668C>T	ENST00000314028.6	-	2	430	c.81G>A	c.(79-81)acG>acA	p.T27T	CSNK1D_ENST00000392334.2_Silent_p.T27T|CSNK1D_ENST00000398519.5_Silent_p.T27T	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	27	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CAGCAATGTCCGTACCTTGGC	0.438																																						uc002kej.2		NaN																	0				breast(2)	2						c.(79-81)ACG>ACA		casein kinase 1, delta isoform 1							188.0	159.0	169.0					17																	80223668		2203	4300	6503	SO:0001819	synonymous_variant	1453				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:80223668C>T		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.81G>A	17.37:g.80223668C>T						CSNK1D_uc002kef.2_Silent_p.T27T|CSNK1D_uc002kei.2_Silent_p.T27T|CSNK1D_uc010wvj.1_5'UTR	p.T27T	NM_001893	NP_001884	P48730	KC1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)		2	397	-	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		27			Protein kinase.		A2I2P2|Q96KZ6|Q9BTN5	Silent	SNP	ENST00000314028.6	37	c.81G>A	CCDS11805.1																																																																																				0.438	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1		NM_139062		37	76	0	0	0	1	0	37	76		
OGFOD3	79701	broad.mit.edu	37	17	80373478	80373478	+	Missense_Mutation	SNP	C	C	T	rs116051835	byFrequency	TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:80373478C>T	ENST00000313056.5	-	2	251	c.100G>A	c.(100-102)Gag>Aag	p.E34K	Y_RNA_ENST00000364369.1_RNA|OGFOD3_ENST00000329197.5_Missense_Mutation_p.E34K|HEXDC_ENST00000337014.6_5'Flank	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	34						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										CTCTGCACCTCCCGCGGGGCT	0.637																																						uc002keu.1		NaN																	0				ovary(1)	1						c.(100-102)GAG>AAG		hypothetical protein LOC79701 isoform 1							25.0	28.0	27.0					17																	80373478		2203	4300	6503	SO:0001583	missense	79701					integral to membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:80373478C>T	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.100G>A	17.37:g.80373478C>T	ENSP00000320116:p.Glu34Lys					C17orf101_uc002ket.1_Missense_Mutation_p.E34K|C17orf101_uc010dip.1_RNA|HEXDC_uc002kev.3_5'Flank|HEXDC_uc010diq.2_5'Flank	p.E34K	NM_024648	NP_078924	Q6PK18	CQ101_HUMAN			2	201	-			34			Cytoplasmic (Potential).		C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	ENST00000313056.5	37	c.100G>A	CCDS11811.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341889	0.41498	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.34667	1.83;1.35	5.0	1.86	0.25419	.	0.962000	0.08490	N	0.938142	T	0.16171	0.0389	N	0.08118	0	0.09310	N	1	B;B	0.17268	0.005;0.021	B;B	0.13407	0.002;0.009	T	0.33059	-0.9883	10	0.10111	T	0.7	-15.0472	5.2583	0.15559	0.0:0.6453:0.168:0.1867	.	34;34	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	K	34	ENSP00000320116:E34K;ENSP00000330075:E34K	ENSP00000320116:E34K	E	-	1	0	C17orf101	77966767	0.010000	0.17322	0.002000	0.10522	0.039000	0.13416	1.458000	0.35223	0.138000	0.18790	0.655000	0.94253	GAG		0.637	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1		NM_175902		14	23	0	0	0	1	0	14	23		
FOXK2	3607	broad.mit.edu	37	17	80477922	80477922	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:80477922C>T	ENST00000335255.5	+	1	332	c.158C>T	c.(157-159)tCg>tTg	p.S53L		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	53	Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AAGAAGCGCTCGGTGACCATC	0.741																																						uc002kfn.2		NaN																	0					0						c.(157-159)TCG>TTG		forkhead box K2							29.0	34.0	32.0					17																	80477922		2186	4277	6463	SO:0001583	missense	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80477922C>T	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.158C>T	17.37:g.80477922C>T	ENSP00000335677:p.Ser53Leu					FOXK2_uc002kfm.1_Missense_Mutation_p.S53L|FOXK2_uc010diu.2_Missense_Mutation_p.S53L	p.S53L	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		1	329	+	Breast(20;0.00106)|all_neural(118;0.0952)		53	AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).		Gly-rich.		A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.158C>T	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	.	14.60	2.584513	0.46110	.	.	ENSG00000141568	ENST00000335255;ENST00000335241	T	0.36520	1.25	3.51	1.42	0.22433	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.000000	0.64402	U	0.000012	T	0.14830	0.0358	N	0.19112	0.55	0.40257	D	0.978139	P;P;P	0.42973	0.744;0.796;0.608	B;B;B	0.34346	0.18;0.126;0.115	T	0.21042	-1.0257	10	0.07030	T	0.85	.	7.8541	0.29472	0.0:0.7433:0.1628:0.0939	.	53;53;53	Q01167-3;Q01167;Q01167-2	.;FOXK2_HUMAN;.	L	53	ENSP00000335677:S53L	ENSP00000334321:S53L	S	+	2	0	FOXK2	78071211	1.000000	0.71417	0.994000	0.49952	0.514000	0.34195	3.766000	0.55280	0.189000	0.20188	0.536000	0.68110	TCG		0.741	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2		NM_181430		13	22	0	0	0	1	0	13	22		
CLUL1	27098	broad.mit.edu	37	18	627295	627295	+	Missense_Mutation	SNP	G	G	C	rs532434091		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr18:627295G>C	ENST00000400606.2	+	5	767	c.622G>C	c.(622-624)Gag>Cag	p.E208Q	CLUL1_ENST00000579494.1_Missense_Mutation_p.E208Q|CLUL1_ENST00000581619.1_Missense_Mutation_p.E233Q|CLUL1_ENST00000338387.7_Missense_Mutation_p.E208Q|CLUL1_ENST00000540035.1_Missense_Mutation_p.E260Q	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	208					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GATGCAGCAAGAGTTTGACCA	0.408																																						uc002kkp.2		NaN																	0				ovary(2)	2						c.(622-624)GAG>CAG		clusterin-like 1 (retinal) precursor							208.0	191.0	196.0					18																	627295		1891	4128	6019	SO:0001583	missense	27098				cell death	extracellular region		g.chr18:627295G>C	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.622G>C	18.37:g.627295G>C	ENSP00000383449:p.Glu208Gln					CLUL1_uc010wys.1_Missense_Mutation_p.E260Q|CLUL1_uc002kkq.2_Missense_Mutation_p.E208Q	p.E208Q	NM_014410	NP_055225	Q15846	CLUL1_HUMAN			5	767	+			208					A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	37	c.622G>C	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604233	0.66445	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.25414	1.8;1.8;1.8	5.95	5.08	0.68730	Clusterin, N-terminal (1);	0.285219	0.40728	N	0.001023	T	0.48466	0.1501	M	0.61703	1.905	0.35400	D	0.791539	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.992	T	0.61811	-0.6986	10	0.54805	T	0.06	-9.2278	15.2649	0.73654	0.0673:0.0:0.9327:0.0	.	260;208	F5GWQ8;Q15846	.;CLUL1_HUMAN	Q	208;260;208	ENSP00000383449:E208Q;ENSP00000441726:E260Q;ENSP00000341128:E208Q	ENSP00000341128:E208Q	E	+	1	0	CLUL1	617295	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.049000	0.64244	1.528000	0.49103	0.561000	0.74099	GAG		0.408	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1				52	147	0	0	0	1	0	52	147		
LAMA1	284217	broad.mit.edu	37	18	6966276	6966276	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr18:6966276G>A	ENST00000389658.3	-	49	7013	c.6920C>T	c.(6919-6921)tCc>tTc	p.S2307F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2307	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AAAATGGAAGGAAGGGTCTTC	0.448																																						uc002knm.2		NaN																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(6919-6921)TCC>TTC		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						47.0	44.0	45.0					18																	6966276		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6966276G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6920C>T	18.37:g.6966276G>A	ENSP00000374309:p.Ser2307Phe					LAMA1_uc002knl.2_5'Flank|LAMA1_uc010wzj.1_Missense_Mutation_p.S1783F	p.S2307F	NM_005559	NP_005550	P25391	LAMA1_HUMAN			49	7014	-		Colorectal(10;0.172)	2307			Laminin G-like 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.6920C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784933	0.90282	.	.	ENSG00000101680	ENST00000389658	T	0.80123	-1.34	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.070422	0.56097	D	0.000025	D	0.89818	0.6825	M	0.78801	2.425	0.58432	D	0.999997	D	0.71674	0.998	D	0.66847	0.947	D	0.90124	0.4201	10	0.62326	D	0.03	.	19.6676	0.95898	0.0:0.0:1.0:0.0	.	2307	P25391	LAMA1_HUMAN	F	2307	ENSP00000374309:S2307F	ENSP00000374309:S2307F	S	-	2	0	LAMA1	6956276	1.000000	0.71417	0.979000	0.43373	0.948000	0.59901	8.754000	0.91642	2.656000	0.90262	0.563000	0.77884	TCC		0.448	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559		9	20	0	0	0	1	0	9	20		
MTCL1	23255	broad.mit.edu	37	18	8825631	8825631	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr18:8825631G>A	ENST00000306329.11	+	13	5080	c.5080G>A	c.(5080-5082)Gag>Aag	p.E1694K	SOGA2_ENST00000359865.3_Missense_Mutation_p.E1375K|SOGA2_ENST00000306285.7_Missense_Mutation_p.E700K|SOGA2_ENST00000400050.3_Missense_Mutation_p.E1334K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1334K|SOGA2_ENST00000518815.1_Missense_Mutation_p.E700K																							CCCTGCCATCGAGAAGGTGCA	0.607																																						uc002knr.2		NaN																	0					0						c.(4123-4125)GAG>AAG		hypothetical protein LOC23255							37.0	32.0	34.0					18																	8825631		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8825631G>A																												ENST00000306329.11:c.5080G>A	18.37:g.8825631G>A	ENSP00000305027:p.Glu1694Lys					KIAA0802_uc002knq.2_Missense_Mutation_p.E1334K|KIAA0802_uc002kns.2_Missense_Mutation_p.E715K	p.E1375K	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			15	4265	+			1685						Missense_Mutation	SNP	ENST00000306329.11	37	c.4123G>A		.	.	.	.	.	.	.	.	.	.	G	22.0	4.234071	0.79688	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.38401	2.2;2.18;2.2;1.14	5.54	4.67	0.58626	.	0.475155	0.18104	N	0.151570	T	0.59609	0.2206	M	0.71581	2.175	0.36035	D	0.839679	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	T	0.69960	-0.5003	10	0.72032	D	0.01	-30.2173	14.1109	0.65121	0.0724:0.0:0.9276:0.0	.	1685;1375	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	K	1396;1334;1375;1334;700	ENSP00000429556:E1334K;ENSP00000352927:E1375K;ENSP00000382924:E1334K;ENSP00000303670:E700K	ENSP00000303670:E700K	E	+	1	0	CCDC165	8815631	1.000000	0.71417	0.983000	0.44433	0.966000	0.64601	7.235000	0.78143	1.338000	0.45544	0.563000	0.77884	GAG		0.607	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1				10	22	0	0	0	1	0	10	22		
TAF4B	6875	broad.mit.edu	37	18	23915183	23915183	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr18:23915183G>A	ENST00000269142.5	+	13	3302	c.2304G>A	c.(2302-2304)caG>caA	p.Q768Q	TAF4B_ENST00000578121.1_Silent_p.Q773Q	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	768					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			GATTAAAGCAGAAAGCCAAAG	0.383																																						uc002kvu.3		NaN																	0				lung(1)|central_nervous_system(1)|skin(1)	3						c.(2302-2304)CAG>CAA		TAF4b RNA polymerase II, TATA box binding							111.0	106.0	107.0					18																	23915183		1874	4102	5976	SO:0001819	synonymous_variant	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23915183G>A	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.2304G>A	18.37:g.23915183G>A						TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Silent_p.Q773Q	p.Q768Q	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		13	2793	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		768			Potential.		Q29YA4|Q29YA5	Silent	SNP	ENST00000269142.5	37	c.2304G>A	CCDS42421.1																																																																																				0.383	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3		NM_005640		8	23	0	0	0	1	0	8	23		
KLHL14	57565	broad.mit.edu	37	18	30350474	30350474	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr18:30350474C>A	ENST00000359358.4	-	2	519	c.81G>T	c.(79-81)tgG>tgT	p.W27C	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.W27C	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	27						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCTGCTTCCTCCACAGCAGGT	0.642																																						uc002kxm.1		NaN																	0				ovary(1)	1						c.(79-81)TGG>TGT		kelch-like 14							80.0	56.0	64.0					18																	30350474		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350474C>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.81G>T	18.37:g.30350474C>A	ENSP00000352314:p.Trp27Cys						p.W27C	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			2	469	-			27					A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.81G>T	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	7.960	0.746836	0.15710	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.21543	2.0;2.0	4.29	4.29	0.51040	BTB/POZ (1);BTB/POZ fold (2);	0.218046	0.43110	D	0.000603	T	0.20495	0.0493	N	0.16567	0.415	0.80722	D	1	D	0.56287	0.975	P	0.50896	0.653	T	0.03413	-1.1039	10	0.87932	D	0	.	13.4042	0.60900	0.0:0.8415:0.1585:0.0	.	27	Q9P2G3	KLH14_HUMAN	C	27	ENSP00000352314:W27C;ENSP00000350808:W27C	ENSP00000350808:W27C	W	-	3	0	KLHL14	28604472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.714000	0.61902	2.223000	0.72356	0.460000	0.39030	TGG		0.642	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1				21	22	1	0	2.70639e-06	1	2.76511e-06	21	22		
ATP8B1	5205	broad.mit.edu	37	18	55368464	55368464	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr18:55368464C>T	ENST00000283684.4	-	4	474	c.475G>A	c.(475-477)Gac>Aac	p.D159N	ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.D159N|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	159					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCCACCAGGTCTTTGATTGCA	0.463																																						uc002lgw.2		NaN																	0				breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(475-477)GAC>AAC		ATPase, class I, type 8B, member 1							151.0	136.0	141.0					18																	55368464		2203	4300	6503	SO:0001583	missense	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55368464C>T	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.475G>A	18.37:g.55368464C>T	ENSP00000283684:p.Asp159Asn					uc002lgv.1_Intron	p.D159N	NM_005603	NP_005594	O43520	AT8B1_HUMAN			4	475	-		Colorectal(73;0.229)	159			Cytoplasmic (Potential).		Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.475G>A	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	34	5.390580	0.95988	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.84070	-1.8;-1.8	5.3	5.3	0.74995	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.103864	0.64402	D	0.000004	D	0.91730	0.7385	M	0.82056	2.57	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.92483	0.5994	10	0.87932	D	0	.	18.9535	0.92649	0.0:1.0:0.0:0.0	.	159	O43520	AT8B1_HUMAN	N	159	ENSP00000283684:D159N;ENSP00000445359:D159N	ENSP00000283684:D159N	D	-	1	0	ATP8B1	53519462	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.755000	0.85180	2.654000	0.90174	0.558000	0.71614	GAC		0.463	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1		NM_005603		14	27	0	0	0	1	0	14	27		
PCSK4	54760	broad.mit.edu	37	19	1487786	1487786	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:1487786G>A	ENST00000300954.5	-	5	652	c.591C>T	c.(589-591)aaC>aaT	p.N197N	CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CTGCTCACCGGTTCTCTTTGC	0.682																																						uc002ltb.1		NaN																	0					0						c.(589-591)AAC>AAT		proprotein convertase subtilisin/kexin type 4							11.0	14.0	13.0					19																	1487786		2168	4249	6417	SO:0001819	synonymous_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1487786G>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.591C>T	19.37:g.1487786G>A						PCSK4_uc002lta.2_Missense_Mutation_p.T39I	p.N197N	NM_017573	NP_060043	Q6UW60	PCSK4_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)	5	653	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	197			Catalytic (By similarity).			Silent	SNP	ENST00000300954.5	37	c.591C>T	CCDS12069.2	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364654	0.24684	.	.	ENSG00000115257	ENST00000441747	.	.	.	2.09	-0.109	0.13584	.	.	.	.	.	T	0.59101	0.2169	.	.	.	0.80722	D	1	P	0.47484	0.896	P	0.51415	0.669	T	0.59107	-0.7516	7	0.87932	D	0	.	6.665	0.23035	0.2728:0.0:0.7272:0.0	.	39	B3KQ28	.	I	39	.	ENSP00000402772:T39I	T	-	2	0	PCSK4	1438786	1.000000	0.71417	0.998000	0.56505	0.288000	0.27193	2.263000	0.43293	0.042000	0.15717	-0.339000	0.08088	ACC		0.682	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1		NM_017573		6	3	0	0	0	1	0	6	3		
ADAMTSL5	339366	broad.mit.edu	37	19	1508069	1508069	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:1508069C>T	ENST00000413997.2	-	7	558	c.559G>A	c.(559-561)Gag>Aag	p.E187K	ADAMTSL5_ENST00000590562.1_5'UTR|CTB-25B13.9_ENST00000590252.1_RNA|ADAMTSL5_ENST00000395467.2_5'UTR|ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.E177K			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	187						extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		CAGCGGTCCTCGAGGGCACCC	0.682																																						uc002ltd.2		NaN																	0					0						c.(529-531)GAG>AAG		ADAMTS-like 5 precursor							25.0	22.0	23.0					19																	1508069		2195	4290	6485	SO:0001583	missense	339366					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:1508069C>T	BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain containing 6"""	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.559G>A	19.37:g.1508069C>T	ENSP00000399364:p.Glu187Lys					ADAMTSL5_uc010dsl.2_5'UTR|ADAMTSL5_uc010xgq.1_Missense_Mutation_p.E187K	p.E177K	NM_213604	NP_998769	Q6ZMM2	ATL5_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)	7	973	-		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	177					B4DXK7|Q8IW95	Missense_Mutation	SNP	ENST00000413997.2	37	c.529G>A		.	.	.	.	.	.	.	.	.	.	C	15.25	2.776803	0.49786	.	.	ENSG00000185761	ENST00000413997;ENST00000330475	T;T	0.70869	-0.52;-0.52	4.76	4.76	0.60689	.	0.355934	0.28425	N	0.015399	T	0.64091	0.2567	M	0.72353	2.195	0.80722	D	1	B;B	0.30068	0.125;0.267	B;B	0.18561	0.013;0.022	T	0.63453	-0.6634	10	0.34782	T	0.22	.	9.0086	0.36127	0.0:0.8972:0.0:0.1028	.	187;177	B4DXK7;Q6ZMM2	.;ATL5_HUMAN	K	187;177	ENSP00000399364:E187K;ENSP00000327608:E177K	ENSP00000327608:E177K	E	-	1	0	ADAMTSL5	1459069	0.000000	0.05858	0.998000	0.56505	0.190000	0.23558	0.424000	0.21330	2.188000	0.69820	0.455000	0.32223	GAG		0.682	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding			XM_294919		6	11	0	0	0	1	0	6	11		
ATP8B3	148229	broad.mit.edu	37	19	1785612	1785612	+	Silent	SNP	G	G	A	rs200569321		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:1785612G>A	ENST00000310127.6	-	26	3487	c.3249C>T	c.(3247-3249)atC>atT	p.I1083I	ATP8B3_ENST00000539485.1_Silent_p.I1093I|ATP8B3_ENST00000525591.1_Silent_p.I1046I	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1083					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		CACCATGGGCGATGGCTTGGA	0.607													.|||	1	0.000199681	0.0	0.0	5008	,	,		17462	0.001		0.0	False		,,,				2504	0.0					uc002ltw.2		NaN																	0					0						c.(3247-3249)ATC>ATT		ATPase, class I, type 8B, member 3		G	,	0,4304		0,0,2152	41.0	49.0	46.0		3138,3249	-9.0	0.0	19		46	6,8486		0,6,4240	yes	coding-synonymous,coding-synonymous	ATP8B3	NM_001178002.1,NM_138813.2	,	0,6,6392	AA,AG,GG		0.0707,0.0,0.0469	,	1046/1264,1083/1301	1785612	6,12790	2152	4246	6398	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1785612G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3249C>T	19.37:g.1785612G>A						ATP8B3_uc002ltv.2_Silent_p.I1046I|ATP8B3_uc002ltx.2_RNA	p.I1083I	NM_138813	NP_620168	O60423	AT8B3_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)	26	3483	-		Hepatocellular(1079;0.137)	1083			Helical; (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.3249C>T	CCDS45901.1																																																																																				0.607	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1		NM_138813		6	10	0	0	0	1	0	6	10		
C3	718	broad.mit.edu	37	19	6678241	6678241	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:6678241C>T	ENST00000245907.6	-	40	4864	c.4772G>A	c.(4771-4773)aGa>aAa	p.R1591K	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1591	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				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)	CAGGGCTTCTCTGCACTTGAT	0.587																																						uc002mfm.2		NaN																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(4771-4773)AGA>AAA		complement component 3 precursor							83.0	65.0	71.0					19																	6678241		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.chr19:6678241C>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.4772G>A	19.37:g.6678241C>T	ENSP00000245907:p.Arg1591Lys					C3_uc002mfl.2_Missense_Mutation_p.R327K	p.R1591K	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	40	4834	-			1591			NTR.		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.4772G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.314879	0.60524	.	.	ENSG00000125730	ENST00000245907	T	0.22945	1.93	5.24	4.21	0.49690	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.989602	0.08210	U	0.980882	T	0.49490	0.1560	M	0.75150	2.29	0.34171	D	0.669796	D;D	0.62365	0.991;0.979	D;P	0.65874	0.939;0.836	T	0.44967	-0.9293	10	0.30078	T	0.28	.	11.385	0.49780	0.0:0.9113:0.0:0.0887	.	1591;1026	P01024;B4E216	CO3_HUMAN;.	K	1591	ENSP00000245907:R1591K	ENSP00000245907:R1591K	R	-	2	0	C3	6629241	0.999000	0.42202	0.694000	0.30210	0.003000	0.03518	3.611000	0.54132	1.213000	0.43380	0.454000	0.30748	AGA		0.587	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2		NM_000064		16	31	0	0	0	1	0	16	31		
MUC16	94025	broad.mit.edu	37	19	9057637	9057637	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:9057637C>T	ENST00000397910.4	-	3	30012	c.29809G>A	c.(29809-29811)Gaa>Aaa	p.E9937K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9939	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGATCACTTCAGTGATGATG	0.453																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(29809-29811)GAA>AAA		mucin 16							250.0	242.0	245.0					19																	9057637		2005	4172	6177	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057637C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29809G>A	19.37:g.9057637C>T	ENSP00000381008:p.Glu9937Lys						p.E9937K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	30013	-			9939			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29809G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	7.515	0.655391	0.14580	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	2.29	-1.47	0.08772	.	.	.	.	.	T	0.01976	0.0062	N	0.19112	0.55	.	.	.	B	0.16603	0.018	B	0.17722	0.019	T	0.44236	-0.9341	8	0.87932	D	0	.	3.0531	0.06175	0.0:0.4644:0.2322:0.3034	.	9937	B5ME49	.	K	9937	ENSP00000381008:E9937K	ENSP00000381008:E9937K	E	-	1	0	MUC16	8918637	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.521000	0.06245	-0.226000	0.09899	0.460000	0.39030	GAA		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		64	115	0	0	0	1	0	64	115		
EPOR	2057	broad.mit.edu	37	19	11489167	11489167	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:11489167C>T	ENST00000222139.6	-	8	1124	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	340					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	CCTGCATCGTCCCCCAGCAGC	0.632																																						uc002mrj.1		NaN																	0				ovary(1)	1						c.(1018-1020)GGG>GGA		erythropoietin receptor precursor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						38.0	39.0	38.0					19																	11489167		2203	4300	6503	SO:0001819	synonymous_variant	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11489167C>T	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1020G>A	19.37:g.11489167C>T						EPOR_uc002mrh.2_5'UTR|EPOR_uc002mri.2_Silent_p.G167G|EPOR_uc002mrk.1_Silent_p.G167G|EPOR_uc002mrl.1_RNA|EPOR_uc010xlx.1_RNA|EPOR_uc010xly.1_Silent_p.G167G	p.G340G	NM_000121	NP_000112	P19235	EPOR_HUMAN			8	1156	-			340			Cytoplasmic (Potential).		B2RCG4|Q15443|Q2M205	Silent	SNP	ENST00000222139.6	37	c.1020G>A	CCDS12260.1																																																																																				0.632	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1				17	21	0	0	0	1	0	17	21		
ZNF441	126068	broad.mit.edu	37	19	11890924	11890924	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:11890924G>A	ENST00000357901.4	+	4	387	c.285G>A	c.(283-285)gaG>gaA	p.E95E	ZNF441_ENST00000454339.2_Silent_p.E28E	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGTGAACGAGAAAATACCTG	0.413																																						uc010dyj.2		NaN																	0				ovary(1)	1						c.(283-285)GAG>GAA		zinc finger protein 441							88.0	85.0	86.0					19																	11890924		2203	4300	6503	SO:0001819	synonymous_variant	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11890924G>A	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.285G>A	19.37:g.11890924G>A						ZNF441_uc002msn.3_Silent_p.E51E	p.E95E	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN			4	479	+			95						Silent	SNP	ENST00000357901.4	37	c.285G>A	CCDS12266.2																																																																																				0.413	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3		NM_152355		21	53	0	0	0	1	0	21	53		
KLF1	10661	broad.mit.edu	37	19	12997900	12997900	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:12997900G>A	ENST00000264834.4	-	1	95	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S	CTD-2265O21.7_ENST00000592400.1_RNA	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	19	Pro-rich.				cellular response to peptide (GO:1901653)|chromatin remodeling (GO:0006338)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGGGAAGGGGCCCAGGGCG	0.657																																						uc002mvo.2		NaN																	0					0						c.(55-57)CCC>TCC		erythroid Kruppel-like factor							110.0	96.0	101.0					19																	12997900		2203	4300	6503	SO:0001583	missense	10661				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:12997900G>A	U37106	CCDS12285.1	19p13.2	2014-07-18			ENSG00000105610	ENSG00000105610		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6345	protein-coding gene	gene with protein product	"""erythroid Kruppel-like factor"""	600599				8924208, 9119377	Standard	NM_006563		Approved	EKLF	uc002mvo.3	Q13351	OTTHUMG00000180536	ENST00000264834.4:c.55C>T	19.37:g.12997900G>A	ENSP00000264834:p.Pro19Ser						p.P19S	NM_006563	NP_006554	Q13351	KLF1_HUMAN		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)	1	118	-		Hepatocellular(1079;0.137)	19			Pro-rich.		Q6PIJ5|Q92899	Missense_Mutation	SNP	ENST00000264834.4	37	c.55C>T	CCDS12285.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233275	0.58886	.	.	ENSG00000105610	ENST00000264834	T	0.10382	2.88	4.87	3.84	0.44239	.	0.238237	0.22627	N	0.057640	T	0.06735	0.0172	N	0.24115	0.695	0.22424	N	0.999115	B	0.20550	0.046	B	0.15870	0.014	T	0.37150	-0.9718	10	0.17832	T	0.49	.	9.0717	0.36497	0.1:0.0:0.9:0.0	.	19	Q13351	KLF1_HUMAN	S	19	ENSP00000264834:P19S	ENSP00000264834:P19S	P	-	1	0	KLF1	12858900	1.000000	0.71417	0.867000	0.34043	0.446000	0.32137	3.202000	0.51067	1.284000	0.44531	0.561000	0.74099	CCC		0.657	KLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451794.1		NM_006563		23	38	0	0	0	1	0	23	38		
AKAP8L	26993	broad.mit.edu	37	19	15512157	15512157	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:15512157G>A	ENST00000397410.5	-	5	750	c.620C>T	c.(619-621)gCc>gTc	p.A207V	AKAP8L_ENST00000595465.2_Missense_Mutation_p.A146V|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	207						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTGGCCCCGGGCCCCCATGGG	0.692																																						uc002naw.1		NaN																	0				ovary(1)	1						c.(619-621)GCC>GTC		A kinase (PRKA) anchor protein 8-like							29.0	34.0	33.0					19																	15512157		1917	4109	6026	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15512157G>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.620C>T	19.37:g.15512157G>A	ENSP00000380557:p.Ala207Val					AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.A146V|AKAP8L_uc002nay.1_Missense_Mutation_p.A207V|AKAP8L_uc002naz.2_Missense_Mutation_p.A55V	p.A207V	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN			5	719	-			207					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.620C>T	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852852	0.51270	.	.	ENSG00000011243	ENST00000397410	T	0.46451	0.87	5.05	5.05	0.67936	.	0.417082	0.22706	N	0.056623	T	0.44561	0.1299	L	0.34521	1.04	0.29999	N	0.816162	D;P;D	0.61697	0.99;0.775;0.99	P;B;P	0.54238	0.746;0.356;0.746	T	0.45600	-0.9250	10	0.59425	D	0.04	-16.9196	11.768	0.51941	0.0:0.1778:0.8222:0.0	.	146;207;207	B4DJ74;B3KMD4;Q9ULX6	.;.;AKP8L_HUMAN	V	207	ENSP00000380557:A207V	ENSP00000380557:A207V	A	-	2	0	AKAP8L	15373157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.993000	0.49425	2.358000	0.79984	0.655000	0.94253	GCC		0.692	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2		NM_014371		13	54	0	0	0	1	0	13	54		
FCHO1	23149	broad.mit.edu	37	19	17889421	17889421	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:17889421C>T	ENST00000596536.1	+	20	1638	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	FCHO1_ENST00000597512.1_Missense_Mutation_p.S459F|FCHO1_ENST00000539407.1_Missense_Mutation_p.S452F|FCHO1_ENST00000389133.4_Missense_Mutation_p.S452F|FCHO1_ENST00000252771.7_Missense_Mutation_p.S452F|FCHO1_ENST00000596951.1_Missense_Mutation_p.S452F|FCHO1_ENST00000595033.1_Missense_Mutation_p.S402F|FCHO1_ENST00000600676.1_Missense_Mutation_p.S452F|FCHO1_ENST00000594202.1_Missense_Mutation_p.S452F	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	452					clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCCCAAGGCTCTAGCAGCCTG	0.682																																						uc010ebb.2		NaN																	0				breast(1)	1						c.(1354-1356)TCT>TTT		FCH domain only 1 isoform b							28.0	27.0	27.0					19																	17889421		2195	4287	6482	SO:0001583	missense	23149							g.chr19:17889421C>T	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.1355C>T	19.37:g.17889421C>T	ENSP00000470731:p.Ser452Phe					FCHO1_uc002nhg.3_Missense_Mutation_p.S452F|FCHO1_uc002nhh.2_Missense_Mutation_p.S452F|FCHO1_uc010xpw.1_Missense_Mutation_p.S402F|FCHO1_uc002nhi.2_5'UTR|FCHO1_uc002nhj.2_5'UTR	p.S452F	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN			19	1544	+			452					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.1355C>T	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	c	17.72	3.459141	0.63401	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.36157	1.27;1.27;1.27	5.18	5.18	0.71444	.	1.334910	0.04719	N	0.418965	T	0.45577	0.1349	L	0.43152	1.355	0.48571	D	0.999674	P;P	0.51351	0.906;0.944	P;P	0.51135	0.459;0.66	T	0.06463	-1.0825	10	0.29301	T	0.29	-24.8851	11.9844	0.53138	0.0:0.8248:0.1752:0.0	.	452;452	O14526;O14526-2	FCHO1_HUMAN;.	F	452	ENSP00000252771:S452F;ENSP00000373785:S452F;ENSP00000437978:S452F	ENSP00000252771:S452F	S	+	2	0	FCHO1	17750421	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.828000	0.48120	2.396000	0.81511	0.556000	0.70494	TCT		0.682	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2		NM_015122		3	2	0	0	0	1	0	3	2		
IL12RB1	3594	broad.mit.edu	37	19	18174783	18174783	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:18174783G>A	ENST00000600835.2	-	14	1819	c.1521C>T	c.(1519-1521)ctC>ctT	p.L507L	IL12RB1_ENST00000593993.2_Silent_p.L507L			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	507	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GCAGGCCACTGAGGGTAACTT	0.647																																						uc002nhw.1		NaN																	0				pancreas(1)	1						c.(1519-1521)CTC>CTT		interleukin 12 receptor, beta 1 isoform 1							30.0	32.0	31.0					19																	18174783		2013	4186	6199	SO:0001819	synonymous_variant	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18174783G>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1521C>T	19.37:g.18174783G>A						IL12RB1_uc010xqb.1_Silent_p.L507L|IL12RB1_uc002nhx.1_Silent_p.L547L	p.L507L	NM_005535	NP_005526	P42701	I12R1_HUMAN			13	1585	-			507			Extracellular (Potential).|Fibronectin type-III 5.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.1521C>T	CCDS54232.1																																																																																				0.647	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3				9	19	0	0	0	1	0	9	19		
ZNF93	81931	broad.mit.edu	37	19	20044424	20044424	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:20044424G>C	ENST00000343769.5	+	4	688	c.660G>C	c.(658-660)aaG>aaC	p.K220N	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	220					regulation of transcription, DNA-templated (GO:0006355)|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)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						ATACACATAAGAGAATTCATA	0.368																																						uc002non.2		NaN																	0				pancreas(1)	1						c.(658-660)AAG>AAC		zinc finger protein 93							42.0	41.0	41.0					19																	20044424		2203	4299	6502	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044424G>C	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.660G>C	19.37:g.20044424G>C	ENSP00000342002:p.Lys220Asn						p.K220N	NM_031218	NP_112495	P35789	ZNF93_HUMAN			4	771	+			220			C2H2-type 3.		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.660G>C	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	g	15.70	2.910023	0.52439	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.07567	3.18	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15089	0.0364	L	0.45422	1.42	0.09310	N	0.99999	P	0.50066	0.931	P	0.58820	0.846	T	0.13255	-1.0516	9	0.87932	D	0	.	6.9563	0.24574	0.0:0.0:1.0:0.0	.	220	P35789	ZNF93_HUMAN	N	220	ENSP00000342002:K220N	ENSP00000342002:K220N	K	+	3	2	ZNF93	19905424	0.000000	0.05858	0.619000	0.29118	0.617000	0.37484	-0.532000	0.06164	0.171000	0.19730	0.174000	0.16983	AAG		0.368	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2		NM_031218		11	31	0	0	0	1	0	11	31		
ZNF257	113835	broad.mit.edu	37	19	22271978	22271978	+	Missense_Mutation	SNP	C	C	G	rs370936676		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:22271978C>G	ENST00000594947.1	+	4	1570	c.1426C>G	c.(1426-1428)Caa>Gaa	p.Q476E		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACACCTTACTCAACATAAAAT	0.383																																						uc010ecx.2		NaN																	0					0						c.(1426-1428)CAA>GAA		zinc finger protein 257		C	GLU/GLN	0,4234		0,0,2117	44.0	49.0	48.0		1426	-2.2	0.0	19		48	1,8513		0,1,4256	no	missense	ZNF257	NM_033468.2	29	0,1,6373	GG,GC,CC		0.0117,0.0,0.0078	benign	476/564	22271978	1,12747	2117	4257	6374	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271978C>G	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1426C>G	19.37:g.22271978C>G	ENSP00000470209:p.Gln476Glu					ZNF257_uc010ecy.2_Missense_Mutation_p.Q444E	p.Q476E	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	1595	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	476			C2H2-type 11.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1426C>G	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.461985	0.01062	0.0	1.17E-4	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12263	0.0298	N	0.05608	-0.01	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30268	-0.9984	8	0.06365	T	0.9	.	3.0712	0.06231	0.3971:0.2539:0.3489:0.0	.	476	Q9Y2Q1	ZN257_HUMAN	E	476;448	.	ENSP00000380312:Q448E	Q	+	1	0	ZNF257	22063818	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-4.670000	0.00200	-0.466000	0.06943	0.313000	0.20887	CAA		0.383	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1				16	31	0	0	0	1	0	16	31		
ETV2	2116	broad.mit.edu	37	19	36135582	36135582	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:36135582G>C	ENST00000403402.1	+	6	1163	c.857G>C	c.(856-858)aGa>aCa	p.R286T	ETV2_ENST00000379023.4_Missense_Mutation_p.R99T|ETV2_ENST00000402764.2_Missense_Mutation_p.R286T|ETV2_ENST00000479824.1_Missense_Mutation_p.R193T|ETV2_ENST00000379026.2_Missense_Mutation_p.R314T			O00321	ETV2_HUMAN	ets variant 2	286					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCGCAAGAGAAAGCCGGGC	0.672																																						uc002oas.2		NaN																	0					0						c.(940-942)AGA>ACA		ets variant gene 2							27.0	26.0	26.0					19																	36135582		2202	4292	6494	SO:0001583	missense	2116						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:36135582G>C	AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"""ets variant gene 2"""			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.857G>C	19.37:g.36135582G>C	ENSP00000385369:p.Arg286Thr					ETV2_uc002oar.2_Missense_Mutation_p.R286T|ETV2_uc002oat.2_Missense_Mutation_p.R193T|ETV2_uc002oau.2_Missense_Mutation_p.R99T	p.R314T	NM_014209	NP_055024	O00321	ETV2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	1380	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		285					A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	ENST00000403402.1	37	c.941G>C	CCDS32995.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535910	0.85812	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000379023;ENST00000403402	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	4.51	3.42	0.39159	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.360396	0.26258	N	0.025406	T	0.18718	0.0449	L	0.34521	1.04	0.39075	D	0.960788	P;D;D;D	0.61697	0.611;0.976;0.99;0.976	B;P;P;P	0.62491	0.237;0.896;0.903;0.896	T	0.01635	-1.1307	10	0.72032	D	0.01	.	5.3036	0.15791	0.2284:0.0:0.7716:0.0	.	99;285;314;286	Q3KNT2;O00321;A6NFN5;B9EIN1	.;ETV2_HUMAN;.;.	T	314;286;99;286	ENSP00000368312:R314T;ENSP00000384524:R286T;ENSP00000368309:R99T;ENSP00000385369:R286T	ENSP00000368309:R99T	R	+	2	0	ETV2	40827422	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.570000	0.36439	2.335000	0.79485	0.505000	0.49811	AGA		0.672	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318848.2		XM_209182		4	18	0	0	0	1	0	4	18		
ZBTB32	27033	broad.mit.edu	37	19	36206116	36206116	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:36206116C>T	ENST00000392197.2	+	3	906	c.588C>T	c.(586-588)ctC>ctT	p.L196L	KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_5'Flank|KMT2B_ENST00000341701.1_5'Flank|ZBTB32_ENST00000262630.3_Silent_p.L196L			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	196					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGAAACGCCTCCAAGCCCCTG	0.587																																						uc002oay.2		NaN																	0				ovary(1)|skin(1)	2						c.(586-588)CTC>CTT		zinc finger and BTB domain containing 32							37.0	39.0	39.0					19																	36206116		2203	4300	6503	SO:0001819	synonymous_variant	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36206116C>T	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.588C>T	19.37:g.36206116C>T						ZBTB32_uc002oaz.2_RNA|MLL4_uc010eei.2_5'Flank	p.L196L	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	798	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		196					Q8WVP2	Silent	SNP	ENST00000392197.2	37	c.588C>T	CCDS12471.1																																																																																				0.587	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3		NM_014383		18	40	0	0	0	1	0	18	40		
PSG3	5671	broad.mit.edu	37	19	43236942	43236942	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:43236942G>C	ENST00000327495.5	-	3	887	c.703C>G	c.(703-705)Ctc>Gtc	p.L235V	PSG3_ENST00000595140.1_Missense_Mutation_p.L235V|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	235					defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCACGGAGGAGATTCAGGGTG	0.537																																						uc002oue.2		NaN																	0				ovary(1)|skin(1)	2						c.(703-705)CTC>GTC		pregnancy specific beta-1-glycoprotein 3							204.0	206.0	206.0					19																	43236942		2202	4300	6502	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43236942G>C		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.703C>G	19.37:g.43236942G>C	ENSP00000332215:p.Leu235Val					PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.L257V	p.L235V	NM_021016	NP_066296	Q16557	PSG3_HUMAN			3	835	-		Prostate(69;0.00682)	235					Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.703C>G	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	0.021	-1.431806	0.01108	.	.	ENSG00000221826	ENST00000327495	T	0.13901	2.55	1.59	0.406	0.16366	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03305	0.0096	N	0.00815	-1.16	0.19300	N	0.999977	P;B	0.35107	0.484;0.071	B;B	0.38225	0.268;0.173	T	0.34551	-0.9824	9	0.02654	T	1	.	5.627	0.17488	0.0:0.6383:0.3617:0.0	.	213;235	Q08266;Q16557	.;PSG3_HUMAN	V	235	ENSP00000332215:L235V	ENSP00000332215:L235V	L	-	1	0	PSG3	47928782	0.000000	0.05858	0.034000	0.17996	0.004000	0.04260	-0.336000	0.07863	0.001000	0.14605	-0.751000	0.03497	CTC		0.537	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2		NM_021016		98	270	0	0	0	1	0	98	270		
DHDH	27294	broad.mit.edu	37	19	49445720	49445720	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:49445720C>T	ENST00000221403.2	+	5	683	c.643C>T	c.(643-645)Ctc>Ttc	p.L215F	DHDH_ENST00000522614.1_Intron|DHDH_ENST00000523250.1_Missense_Mutation_p.L76F	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	215					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		TGTCACGGTGCTCCTGCAGTA	0.622																																						uc002ple.1		NaN																	0					0						c.(643-645)CTC>TTC		dimeric dihydrodiol dehydrogenase							68.0	51.0	57.0					19																	49445720		2203	4300	6503	SO:0001583	missense	27294				carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr19:49445720C>T	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.643C>T	19.37:g.49445720C>T	ENSP00000221403:p.Leu215Phe						p.L215F	NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)	5	683	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	215						Missense_Mutation	SNP	ENST00000221403.2	37	c.643C>T	CCDS12741.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253353	0.22965	.	.	ENSG00000104808	ENST00000221403;ENST00000523250	T;T	0.25749	1.78;1.78	4.84	-0.75	0.11080	.	0.423271	0.24740	N	0.035990	T	0.23289	0.0563	M	0.75615	2.305	0.09310	N	0.999992	B	0.14438	0.01	B	0.10450	0.005	T	0.19031	-1.0318	10	0.42905	T	0.14	-11.2162	5.5737	0.17210	0.5877:0.2903:0.0:0.1219	.	215	Q9UQ10	DHDH_HUMAN	F	215;76	ENSP00000221403:L215F;ENSP00000428935:L76F	ENSP00000221403:L215F	L	+	1	0	DHDH	54137532	0.343000	0.24818	0.023000	0.16930	0.529000	0.34654	0.437000	0.21543	0.171000	0.19730	0.484000	0.47621	CTC		0.622	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1		NM_014475		6	21	0	0	0	1	0	6	21		
ZNF613	79898	broad.mit.edu	37	19	52448420	52448420	+	Silent	SNP	T	T	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:52448420T>C	ENST00000293471.6	+	6	1963	c.1284T>C	c.(1282-1284)taT>taC	p.Y428Y	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Silent_p.Y392Y	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AGAAACCCTATGTATGCAATG	0.423																																						uc002pxz.1		NaN																	0				ovary(1)	1						c.(1282-1284)TAT>TAC		zinc finger protein 613 isoform 1							76.0	72.0	73.0					19																	52448420		2203	4300	6503	SO:0001819	synonymous_variant	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448420T>C	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1284T>C	19.37:g.52448420T>C						ZNF613_uc002pya.1_Silent_p.Y392Y	p.Y428Y	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1707	+		all_neural(266;0.117)	428			C2H2-type 9.		Q96SS9	Silent	SNP	ENST00000293471.6	37	c.1284T>C	CCDS33089.1																																																																																				0.423	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2		NM_024840		30	32	0	0	0	1	0	30	32		
VSTM1	284415	broad.mit.edu	37	19	54545036	54545036	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:54545036G>A	ENST00000338372.2	-	8	763	c.588C>T	c.(586-588)ctC>ctT	p.L196L	VSTM1_ENST00000376626.1_Silent_p.L165L|VSTM1_ENST00000366170.2_Silent_p.L108L|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	196					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		GACTCACCGAGAGAGATACCC	0.463																																						uc002qcw.3		NaN																	0					0						c.(586-588)CTC>CTT		V-set and transmembrane domain containing 1							53.0	47.0	49.0					19																	54545036		2203	4300	6503	SO:0001819	synonymous_variant	284415					integral to membrane		g.chr19:54545036G>A	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.588C>T	19.37:g.54545036G>A						VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Silent_p.L165L	p.L196L	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	8	764	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		196					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Silent	SNP	ENST00000338372.2	37	c.588C>T	CCDS12872.1																																																																																				0.463	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3		NM_198481		7	10	0	0	0	1	0	7	10		
CNOT3	4849	broad.mit.edu	37	19	54649696	54649696	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:54649696G>A	ENST00000406403.1	+	8	2357	c.754G>A	c.(754-756)Gag>Aag	p.E252K	CNOT3_ENST00000221232.5_Missense_Mutation_p.E252K|CNOT3_ENST00000358389.3_Missense_Mutation_p.E71K			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	252					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CATGGAGGATGAGATCTTCAA	0.642																																						uc002qdj.1		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(754-756)GAG>AAG		CCR4-NOT transcription complex, subunit 3							181.0	143.0	156.0					19																	54649696		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649696G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.754G>A	19.37:g.54649696G>A	ENSP00000383954:p.Glu252Lys					CNOT3_uc010yel.1_Missense_Mutation_p.E252K|CNOT3_uc002qdi.2_Missense_Mutation_p.E165K|CNOT3_uc002qdk.1_Missense_Mutation_p.E252K|CNOT3_uc010ere.1_RNA	p.E252K	NM_014516	NP_055331	O75175	CNOT3_HUMAN			9	1065	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		252					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.754G>A	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.248257|5.248257	0.95305|0.95305	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403|ENST00000440571	T;T;T|.	0.62941|.	0.89;-0.01;0.89|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52125|0.52125	0.1715|0.1715	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.993;0.993;0.997|.	D;D;D|.	0.75020|.	0.971;0.971;0.985|.	T|T	0.46261|0.46261	-0.9204|-0.9204	10|5	0.10377|.	T|.	0.69|.	-33.5882|-33.5882	17.1265|17.1265	0.86715|0.86715	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	252;252;176|.	B7Z6J7;O75175;Q6ZMJ6|.	.;CNOT3_HUMAN;.|.	K|I	252;71;252|173	ENSP00000221232:E252K;ENSP00000351159:E71K;ENSP00000383954:E252K|.	ENSP00000221232:E252K|.	E|M	+|+	1|3	0|0	CNOT3|CNOT3	59341508|59341508	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.999000|0.999000	0.98932|0.98932	8.702000|8.702000	0.91338|0.91338	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.642	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3		NM_014516		15	25	0	0	0	1	0	15	25		
ZNF548	147694	broad.mit.edu	37	19	57911010	57911010	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:57911010G>A	ENST00000366197.5	+	3	1605	c.1355G>A	c.(1354-1356)aGa>aAa	p.R452K	AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.R464K|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	452					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)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TACGAGTGCAGAGAGTGTGGG	0.468																																						uc002qom.2		NaN																	0				breast(1)	1						c.(1354-1356)AGA>AAA		zinc finger protein 548							64.0	68.0	66.0					19																	57911010		2189	4295	6484	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57911010G>A	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1355G>A	19.37:g.57911010G>A	ENSP00000379482:p.Arg452Lys					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.R455K	p.R452K	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1605	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	452			C2H2-type 10.		Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.1355G>A	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395151	0.25205	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.13307	2.6;2.6	2.26	1.2	0.21068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.03029	-0.43	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.003;0.005	T	0.45101	-0.9284	9	0.11485	T	0.65	.	2.9675	0.05912	0.2883:0.2402:0.4715:0.0	.	464;452	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	K	464;452	ENSP00000337555:R464K;ENSP00000379482:R452K	ENSP00000337555:R464K	R	+	2	0	ZNF548	62602822	0.000000	0.05858	0.003000	0.11579	0.954000	0.61252	-2.088000	0.01359	0.524000	0.28502	0.655000	0.94253	AGA		0.468	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1		NM_152909		18	32	0	0	0	1	0	18	32		
SLC27A5	10998	broad.mit.edu	37	19	59012064	59012064	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:59012064C>T	ENST00000263093.2	-	5	1301	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N	SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.D314N|SLC27A5_ENST00000599700.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	398					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TGTGTCCGGTCCTCTGGTTGC	0.572																																						uc002qtc.2		NaN																	0					0						c.(1192-1194)GAC>AAC		solute carrier family 27 (fatty acid							77.0	74.0	75.0					19																	59012064		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59012064C>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1192G>A	19.37:g.59012064C>T	ENSP00000263093:p.Asp398Asn					SLC27A5_uc002qtb.2_5'Flank	p.D398N	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	5	1302	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	398			Cytoplasmic (Probable).		B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1192G>A	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124678	0.77436	.	.	ENSG00000083807	ENST00000263093	T	0.48836	0.8	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.156823	0.56097	D	0.000037	T	0.74574	0.3734	M	0.91300	3.195	0.47819	D	0.999528	D	0.89917	1.0	D	0.87578	0.998	T	0.80502	-0.1354	10	0.87932	D	0	-40.5041	14.6351	0.68682	0.0:1.0:0.0:0.0	.	398	Q9Y2P5	S27A5_HUMAN	N	398	ENSP00000263093:D398N	ENSP00000263093:D398N	D	-	1	0	SLC27A5	63703876	0.999000	0.42202	0.980000	0.43619	0.235000	0.25334	4.560000	0.60802	2.603000	0.88011	0.563000	0.77884	GAC		0.572	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1		NM_012254		17	22	0	0	0	1	0	17	22		
TPO	7173	broad.mit.edu	37	2	1460027	1460027	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:1460027G>A	ENST00000345913.4	+	7	883	c.792G>A	c.(790-792)gaG>gaA	p.E264E	TPO_ENST00000382201.3_Silent_p.E264E|TPO_ENST00000337415.3_Silent_p.E264E|TPO_ENST00000329066.4_Silent_p.E264E|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Silent_p.E264E|TPO_ENST00000382198.1_Silent_p.E264E|TPO_ENST00000349624.3_Silent_p.E264E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	264					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGACTTGTGAGAACCAAAACC	0.443																																						uc002qww.2		NaN																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(790-792)GAG>GAA		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						77.0	71.0	73.0					2																	1460027		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1460027G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.792G>A	2.37:g.1460027G>A						TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.E264E|TPO_uc002qwr.2_Silent_p.E264E|TPO_uc002qwx.2_Silent_p.E264E|TPO_uc010yio.1_Silent_p.E264E|TPO_uc010yip.1_Silent_p.E264E	p.E264E	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	7	883	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	264			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.792G>A	CCDS1643.1																																																																																				0.443	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2		NM_000547		8	30	0	0	0	1	0	8	30		
HADHA	3030	broad.mit.edu	37	2	26424095	26424095	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:26424095C>G	ENST00000380649.3	-	13	1444	c.1315G>C	c.(1315-1317)Gaa>Caa	p.E439Q		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	439					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGCCTTTTCAAAACCTTGG	0.423																																						uc002rgy.2		NaN																	0				ovary(1)	1						c.(1315-1317)GAA>CAA		mitochondrial trifunctional protein, alpha	NADH(DB00157)						94.0	85.0	88.0					2																	26424095		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26424095C>G	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1315G>C	2.37:g.26424095C>G	ENSP00000370023:p.Glu439Gln					HADHA_uc010yks.1_Missense_Mutation_p.E352Q	p.E439Q	NM_000182	NP_000173	P40939	ECHA_HUMAN			13	1445	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		439					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.1315G>C	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454356	0.84209	.	.	ENSG00000084754	ENST00000380649	T	0.76968	-1.06	5.43	5.43	0.79202	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.138894	0.64402	D	0.000004	T	0.72835	0.3510	L	0.33189	0.99	0.80722	D	1	P;P	0.41188	0.741;0.741	B;B	0.42062	0.374;0.374	T	0.74711	-0.3573	10	0.48119	T	0.1	-22.1998	17.8231	0.88656	0.0:1.0:0.0:0.0	.	439;439	E9KL44;P40939	.;ECHA_HUMAN	Q	439	ENSP00000370023:E439Q	ENSP00000370023:E439Q	E	-	1	0	HADHA	26277599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.974000	0.56852	2.557000	0.86248	0.655000	0.94253	GAA		0.423	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1		NM_000182		16	39	0	0	0	1	0	16	39		
HADHB	3032	broad.mit.edu	37	2	26486347	26486347	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:26486347C>T	ENST00000317799.5	+	4	313	c.209C>T	c.(208-210)tCa>tTa	p.S70L	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Splice_Site_p.S70L|HADHB_ENST00000545822.1_Splice_Site_p.S48L|HADHB_ENST00000405867.3_Splice_Site_p.S70L	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	70					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGGCACTTCGTAAGTATGA	0.378																																						uc002rgz.2		NaN																	0				ovary(1)|breast(1)	2						c.(208-210)TCA>TTA		mitochondrial trifunctional protein, beta							157.0	144.0	148.0					2																	26486347		2203	4300	6503	SO:0001630	splice_region_variant	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26486347C>T		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.209+1C>T	2.37:g.26486347C>T						HADHB_uc010yku.1_RNA|HADHB_uc010ykv.1_Missense_Mutation_p.S48L|HADHB_uc010ykw.1_Missense_Mutation_p.S70L|HADHB_uc002rha.2_Missense_Mutation_p.S70L	p.S70L	NM_000183	NP_000174	P55084	ECHB_HUMAN			4	460	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		70					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	c.209C>T	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700503	0.48307	.	.	ENSG00000138029	ENST00000448743;ENST00000317799;ENST00000405867;ENST00000537713;ENST00000545822;ENST00000425035;ENST00000412805	D;D;D;D;D;D;D	0.90788	-2.28;-2.28;-2.72;-2.73;-2.28;-2.28;-2.72	5.64	4.73	0.59995	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.064498	0.64402	D	0.000011	D	0.88119	0.6351	L	0.50847	1.595	0.40627	D	0.981822	B;B;P;B	0.34837	0.003;0.004;0.472;0.004	B;B;B;B	0.37780	0.005;0.005;0.258;0.009	D	0.87208	0.2245	10	0.51188	T	0.08	-1.8077	11.5716	0.50836	0.0:0.9091:0.0:0.0909	.	70;48;70;70	F5GZQ3;B4E2W0;B5MD38;P55084	.;.;.;ECHB_HUMAN	L	70;70;70;70;48;70;70	ENSP00000415300:S70L;ENSP00000325136:S70L;ENSP00000385411:S70L;ENSP00000444295:S70L;ENSP00000442665:S48L;ENSP00000404633:S70L;ENSP00000413103:S70L	ENSP00000325136:S70L	S	+	2	0	HADHB	26339851	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.607000	0.36836	1.316000	0.45131	0.585000	0.79938	TCA;TCA;TCA;TCG;TCA;TCA;TCA		0.378	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2		NM_000183	Missense_Mutation	16	57	0	0	0	1	0	16	57		
LBH	81606	broad.mit.edu	37	2	30457350	30457350	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:30457350C>T	ENST00000395323.3	+	2	314	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	LBH_ENST00000407930.2_Missense_Mutation_p.R19C|LBH_ENST00000406087.1_Missense_Mutation_p.R36C|LBH_ENST00000401506.1_Missense_Mutation_p.R42C|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000404397.1_Missense_Mutation_p.R36C	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	36					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					CCTCAGCCCCCGCAAGGATGG	0.562																																						uc002rne.2		NaN																	0					0						c.(106-108)CGC>TGC		limb bud and heart development homolog							112.0	94.0	100.0					2																	30457350		2203	4300	6503	SO:0001583	missense	81606				multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr2:30457350C>T	AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.106C>T	2.37:g.30457350C>T	ENSP00000378733:p.Arg36Cys						p.R36C	NM_030915	NP_112177	Q53QV2	LBH_HUMAN			2	314	+	Acute lymphoblastic leukemia(172;0.155)		36					B2RBC2|Q9H0Q1	Missense_Mutation	SNP	ENST00000395323.3	37	c.106C>T	CCDS33173.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869469	0.72065	.	.	ENSG00000213626	ENST00000395323;ENST00000406087;ENST00000404397;ENST00000401506;ENST00000407930	.	.	.	4.68	4.68	0.58851	.	0.127846	0.53938	D	0.000056	T	0.67859	0.2938	L	0.47716	1.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.63703	0.917	T	0.71556	-0.4557	9	0.72032	D	0.01	-2.4202	15.0906	0.72192	0.0:1.0:0.0:0.0	.	36	Q53QV2	LBH_HUMAN	C	36;36;36;42;19	.	ENSP00000378733:R36C	R	+	1	0	LBH	30310854	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.914000	0.56401	2.141000	0.66446	0.455000	0.32223	CGC		0.562	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1		NM_030915		16	52	0	0	0	1	0	16	52		
PRKD3	23683	broad.mit.edu	37	2	37513430	37513430	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:37513430C>G	ENST00000379066.1	-	6	1562	c.800G>C	c.(799-801)aGa>aCa	p.R267T	PRKD3_ENST00000234179.2_Missense_Mutation_p.R267T			O94806	KPCD3_HUMAN	protein kinase D3	267					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AACTTTCACTCTGCACATTAC	0.448																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(799-801)AGA>ACA		protein kinase D3							183.0	143.0	157.0					2																	37513430		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37513430C>G	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.800G>C	2.37:g.37513430C>G	ENSP00000368356:p.Arg267Thr					PRKD3_uc002rqf.1_Missense_Mutation_p.R267T	p.R267T	NM_005813	NP_005804	O94806	KPCD3_HUMAN			5	1355	-		all_hematologic(82;0.21)	267					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.800G>C	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695332	0.68386	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	D;D;D	0.86769	-1.82;-1.82;-2.17	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.86426	0.5930	L	0.51422	1.61	0.58432	D	0.999991	B;P	0.37233	0.393;0.588	B;B	0.43225	0.312;0.412	D	0.86798	0.1990	10	0.66056	D	0.02	-18.1174	13.1069	0.59252	0.0:0.9272:0.0:0.0728	.	267;267	O94806-2;O94806	.;KPCD3_HUMAN	T	267;267;163	ENSP00000368356:R267T;ENSP00000234179:R267T;ENSP00000401839:R163T	ENSP00000234179:R267T	R	-	2	0	PRKD3	37366934	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.089000	0.57685	2.709000	0.92574	0.655000	0.94253	AGA		0.448	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3		NM_005813		18	47	0	0	0	1	0	18	47		
PRKD3	23683	broad.mit.edu	37	2	37513444	37513444	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:37513444C>A	ENST00000379066.1	-	6	1548	c.786G>T	c.(784-786)aaG>aaT	p.K262N	PRKD3_ENST00000234179.2_Missense_Mutation_p.K262N			O94806	KPCD3_HUMAN	protein kinase D3	262					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ACATTACCATCTTTTCCATCC	0.433																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(784-786)AAG>AAT		protein kinase D3							167.0	134.0	145.0					2																	37513444		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37513444C>A	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.786G>T	2.37:g.37513444C>A	ENSP00000368356:p.Lys262Asn					PRKD3_uc002rqf.1_Missense_Mutation_p.K262N	p.K262N	NM_005813	NP_005804	O94806	KPCD3_HUMAN			5	1341	-		all_hematologic(82;0.21)	262					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.786G>T	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686134	0.88639	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	D;D;D	0.86627	-1.93;-1.93;-2.15	5.71	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.69823	2.125	0.80722	D	1	D;B	0.56968	0.978;0.431	P;B	0.61397	0.888;0.248	D	0.92006	0.5614	10	0.54805	T	0.06	-14.8186	14.616	0.68549	0.0:0.9302:0.0:0.0698	.	262;262	O94806-2;O94806	.;KPCD3_HUMAN	N	262;262;158	ENSP00000368356:K262N;ENSP00000234179:K262N;ENSP00000401839:K158N	ENSP00000234179:K262N	K	-	3	2	PRKD3	37366948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.754000	0.47532	1.422000	0.47177	0.655000	0.94253	AAG		0.433	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3		NM_005813		14	53	1	0	1.15088e-07	1	1.1852e-07	14	53		
LRPPRC	10128	broad.mit.edu	37	2	44170868	44170868	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:44170868G>A	ENST00000260665.7	-	23	2519	c.2462C>T	c.(2461-2463)tCc>tTc	p.S821F		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	821					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TATGTTGGTGGATGGTTCTGC	0.358																																						uc002rtr.2		NaN																	0				ovary(2)|skin(1)	3						c.(2461-2463)TCC>TTC		leucine-rich PPR motif-containing protein							171.0	164.0	166.0					2																	44170868		2203	4300	6503	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44170868G>A	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2462C>T	2.37:g.44170868G>A	ENSP00000260665:p.Ser821Phe					LRPPRC_uc010yob.1_Missense_Mutation_p.S721F	p.S821F	NM_133259	NP_573566	P42704	LPPRC_HUMAN			23	2520	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	821			PPR 13.		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.2462C>T	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691425	0.48097	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.58358	0.34	6.06	5.15	0.70609	.	0.299822	0.34268	N	0.004115	T	0.66177	0.2763	M	0.67953	2.075	0.80722	D	1	D;D	0.55800	0.973;0.966	P;P	0.53988	0.739;0.691	T	0.69117	-0.5230	10	0.72032	D	0.01	-7.4419	19.0412	0.93000	0.0:0.1236:0.8764:0.0	.	721;821	F5H4J6;P42704	.;LPPRC_HUMAN	F	721;821	ENSP00000260665:S821F	ENSP00000260665:S821F	S	-	2	0	LRPPRC	44024372	0.992000	0.36948	0.122000	0.21767	0.990000	0.78478	5.969000	0.70422	2.880000	0.98712	0.650000	0.86243	TCC		0.358	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1		NM_133259		32	108	0	0	0	1	0	32	108		
USP34	9736	broad.mit.edu	37	2	61622361	61622361	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:61622361G>A	ENST00000398571.2	-	4	636	c.560C>T	c.(559-561)tCa>tTa	p.S187L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	187					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTCTTGAGTTGATATATCCTA	0.234																																						uc002sbe.2		NaN																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(559-561)TCA>TTA		ubiquitin specific protease 34							26.0	26.0	26.0					2																	61622361		1763	3985	5748	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61622361G>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.560C>T	2.37:g.61622361G>A	ENSP00000381577:p.Ser187Leu						p.S187L	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		4	582	-			187					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.560C>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958182	0.92726	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.15256	2.44	5.67	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.35038	0.0918	L	0.59436	1.845	0.58432	D	0.999996	D	0.54601	0.967	P	0.60789	0.879	T	0.08994	-1.0695	10	0.66056	D	0.02	.	14.6241	0.68608	0.0699:0.0:0.9301:0.0	.	187	Q70CQ2	UBP34_HUMAN	L	35;35;187	ENSP00000381577:S187L	ENSP00000263989:S35L	S	-	2	0	USP34	61475865	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.439000	0.80444	1.399000	0.46721	0.579000	0.79373	TCA		0.234	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4				13	21	0	0	0	1	0	13	21		
WDPCP	51057	broad.mit.edu	37	2	63349172	63349172	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:63349172G>A	ENST00000272321.7	-	18	2737	c.2210C>T	c.(2209-2211)tCt>tTt	p.S737F	WDPCP_ENST00000409199.1_Missense_Mutation_p.S545F|WDPCP_ENST00000398544.3_Missense_Mutation_p.S578F|DBIL5P2_ENST00000491724.1_RNA|WDPCP_ENST00000409120.1_Missense_Mutation_p.S545F	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	737					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CATTTTGAGAGAACCACCATC	0.279																																						uc002sch.2		NaN																	0					0						c.(2209-2211)TCT>TTT		hypothetical protein LOC51057 isoform 2							86.0	86.0	86.0					2																	63349172		1799	4064	5863	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63349172G>A		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.2210C>T	2.37:g.63349172G>A	ENSP00000272321:p.Ser737Phe					C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.S578F|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.S545F	p.S737F	NM_015910	NP_056994	O95876	FRITZ_HUMAN			18	2656	-			737					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.2210C>T	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886995	0.72410	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.79033	-1.23;-0.67;-0.67;-0.66	5.25	4.37	0.52481	.	0.189981	0.26163	N	0.025961	T	0.65176	0.2666	N	0.24115	0.695	0.80722	D	1	B;B	0.12630	0.003;0.006	B;B	0.16289	0.007;0.015	T	0.62845	-0.6768	10	0.87932	D	0	-2.7176	10.9254	0.47187	0.0882:0.0:0.9118:0.0	.	737;578	O95876;O95876-3	FRITZ_HUMAN;.	F	737;545;545;578	ENSP00000272321:S737F;ENSP00000386592:S545F;ENSP00000386769:S545F;ENSP00000381552:S578F	ENSP00000272321:S737F	S	-	2	0	WDPCP	63202676	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.836000	0.48183	1.219000	0.43474	0.557000	0.71058	TCT		0.279	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1		NM_015910		15	59	0	0	0	1	0	15	59		
ATP6V1B1	525	broad.mit.edu	37	2	71189911	71189911	+	Missense_Mutation	SNP	G	G	A	rs200839517		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:71189911G>A	ENST00000234396.4	+	9	863	c.790G>A	c.(790-792)Gag>Aag	p.E264K	AC007040.11_ENST00000606025.1_Intron|RN7SL160P_ENST00000468558.2_RNA|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.E264K	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	264					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CTCCAGGATCGAGCGGATCAT	0.582																																						uc002shj.2		NaN																	0				skin(1)	1						c.(790-792)GAG>AAG		ATPase, H+ transporting, lysosomal 56/58kDa, V1							106.0	93.0	97.0					2																	71189911		2203	4300	6503	SO:0001583	missense	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71189911G>A	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.790G>A	2.37:g.71189911G>A	ENSP00000234396:p.Glu264Lys					ATP6V1B1_uc010fdv.2_Missense_Mutation_p.E264K|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.E222K	p.E264K	NM_001692	NP_001683	P15313	VATB1_HUMAN			9	877	+			264					Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	c.790G>A	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455308	0.96223	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314	T;T	0.79653	-1.29;-1.29	5.41	5.41	0.78517	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.64402	D	0.000002	D	0.92087	0.7492	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.946;0.966;0.947	D	0.93897	0.7185	10	0.87932	D	0	-13.071	16.6868	0.85310	0.0:0.0:1.0:0.0	.	239;264;264	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	K	264;239;264	ENSP00000234396:E264K;ENSP00000388353:E264K	ENSP00000234396:E264K	E	+	1	0	ATP6V1B1	71043419	1.000000	0.71417	0.983000	0.44433	0.930000	0.56654	9.795000	0.99099	2.555000	0.86185	0.650000	0.86243	GAG		0.582	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2		NM_001692		10	59	0	0	0	1	0	10	59		
LBX2	85474	broad.mit.edu	37	2	74725261	74725261	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:74725261G>A	ENST00000377566.4	-	2	568	c.390C>T	c.(388-390)gtC>gtT	p.V130V	LBX2_ENST00000460508.3_Silent_p.V126V|AC005041.17_ENST00000479098.1_RNA|LBX2_ENST00000341396.2_3'UTR|LBX2_ENST00000550249.1_5'UTR	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						GGAACCAAGTGACCACCTGCG	0.667																																						uc002slv.3		NaN																	0					0						c.(388-390)GTC>GTT		ladybird homeobox 2							49.0	47.0	47.0					2																	74725261		2203	4300	6503	SO:0001819	synonymous_variant	85474					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74725261G>A	AC005041	CCDS33228.1, CCDS62938.1	2p13.1	2014-05-06	2007-02-15		ENSG00000179528	ENSG00000179528		"""Homeoboxes / ANTP class : NKL subclass"""	15525	protein-coding gene	gene with protein product		607164	"""ladybird homeobox homolog 2 (Drosophila)"""			11386758	Standard	NM_001282430		Approved		uc002slw.3	Q6XYB7	OTTHUMG00000170595	ENST00000377566.4:c.390C>T	2.37:g.74725261G>A						LBX2_uc002slw.2_Silent_p.V126V	p.V130V	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN			2	395	-			130			Homeobox.		Q7Z5Y8	Silent	SNP	ENST00000377566.4	37	c.390C>T																																																																																					0.667	LBX2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328490.1		NM_001009812		15	34	0	0	0	1	0	15	34		
SFTPB	6439	broad.mit.edu	37	2	85893860	85893860	+	Silent	SNP	C	C	T	rs45478492		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:85893860C>T	ENST00000519937.2	-	4	292	c.273G>A	c.(271-273)acG>acA	p.T91T	SFTPB_ENST00000409383.1_Silent_p.T103T|SFTPB_ENST00000342375.3_Silent_p.T91T|SFTPB_ENST00000393822.3_Silent_p.T103T			P07988	PSPB_HUMAN	surfactant protein B	91	Saposin B-type 1. {ECO:0000255|PROSITE- ProRule:PRU00415}.				organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						ACTTCCTCATCGTGTCCTGGG	0.632																																						uc002sqh.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(271-273)ACG>ACA		surfactant, pulmonary-associated protein B							133.0	121.0	125.0					2																	85893860		2203	4300	6503	SO:0001819	synonymous_variant	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85893860C>T	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.273G>A	2.37:g.85893860C>T						SFTPB_uc002sqi.2_Silent_p.T103T|SFTPB_uc002sqj.2_Silent_p.T91T	p.T91T	NM_198843	NP_942140	P07988	PSPB_HUMAN			4	279	-			91			Saposin B-type 1.		Q96R04	Silent	SNP	ENST00000519937.2	37	c.273G>A		.	.	.	.	.	.	.	.	.	.	C	3.408	-0.120846	0.06838	.	.	ENSG00000168878	ENST00000428225	.	.	.	4.47	-8.94	0.00768	.	.	.	.	.	T	0.22282	0.0537	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.14062	-1.0486	4	.	.	.	0.0582	5.2351	0.15443	0.0888:0.1215:0.4657:0.324	rs45478492	.	.	.	N	88	.	.	D	-	1	0	SFTPB	85747371	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.182000	0.01256	-2.775000	0.00363	-0.984000	0.02558	GAT		0.632	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3		NM_198843		43	103	0	0	0	1	0	43	103		
FER1L5	90342	broad.mit.edu	37	2	97365429	97365429	+	RNA	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:97365429C>T	ENST00000457909.1	+	0	4256							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CTTTGGAGCTCATTGTGGGCT	0.527																																						uc010fia.2		NaN																	0				ovary(1)	1						c.(4834-4836)CAT>TAT		fer-1-like 5 isoform 2							97.0	97.0	97.0					2																	97365429		1915	4117	6032			90342					integral to membrane		g.chr2:97365429C>T	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97365429C>T						FER1L5_uc002sws.3_Missense_Mutation_p.H330Y|FER1L5_uc002swt.3_Missense_Mutation_p.H330Y|FER1L5_uc010yus.1_Missense_Mutation_p.H329Y	p.H1612Y	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			42	4834	+			1612					Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	37	c.4834C>T		.	.	.	.	.	.	.	.	.	.	C	13.38	2.219597	0.39201	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	5.18	2.36	0.29203	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.472901	0.17652	U	0.166648	T	0.15609	0.0376	L	0.27053	0.805	.	.	.	B;P;B	0.44521	0.001;0.837;0.002	B;B;B	0.28553	0.001;0.091;0.002	T	0.21552	-1.0242	8	0.21014	T	0.42	-2.0197	5.5216	0.16936	0.2774:0.567:0.0:0.1556	.	329;1612;330	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	Y	1612;1625;330	.	ENSP00000442027:H330Y	H	+	1	0	FER1L5	96729156	0.000000	0.05858	0.663000	0.29738	0.970000	0.65996	-0.059000	0.11731	0.194000	0.20326	0.650000	0.86243	CAT		0.527	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1		NM_001077400		38	80	0	0	0	1	0	38	80		
TMEM131	23505	broad.mit.edu	37	2	98382950	98382950	+	Missense_Mutation	SNP	T	T	C	rs184780740	byFrequency	TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:98382950T>C	ENST00000186436.5	-	34	4792	c.4564A>G	c.(4564-4566)Aaa>Gaa	p.K1522E		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1522						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CCTTTTGTTTTCTGGGCATTT	0.393																																						uc002syh.3		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(4564-4566)AAA>GAA		RW1 protein							147.0	139.0	142.0					2																	98382950		1900	4110	6010	SO:0001583	missense	23505					integral to membrane		g.chr2:98382950T>C	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4564A>G	2.37:g.98382950T>C	ENSP00000186436:p.Lys1522Glu						p.K1522E	NM_015348	NP_056163	Q92545	TM131_HUMAN			34	4793	-			1522						Missense_Mutation	SNP	ENST00000186436.5	37	c.4564A>G	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.460172	0.84317	.	.	ENSG00000075568	ENST00000186436	T	0.53206	0.63	5.55	5.55	0.83447	.	0.122893	0.56097	D	0.000040	T	0.56262	0.1973	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.52109	-0.8619	10	0.28530	T	0.3	-22.4304	14.8711	0.70459	0.0:0.0:0.0:1.0	.	1522	Q92545	TM131_HUMAN	E	1522	ENSP00000186436:K1522E	ENSP00000186436:K1522E	K	-	1	0	TMEM131	97749382	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.140000	0.71738	2.101000	0.63845	0.519000	0.50382	AAA		0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2		XM_371542		15	46	0	0	0	1	0	15	46		
TBC1D8	11138	broad.mit.edu	37	2	101656805	101656805	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:101656805G>A	ENST00000376840.4	-	6	869	c.870C>T	c.(868-870)ttC>ttT	p.F290F	TBC1D8_ENST00000409318.1_Silent_p.F305F			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	290	GRAM 2.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GCAACCTGAAGAAAGCCCGGA	0.572																																						uc010fiv.2		NaN																	0				ovary(3)	3						c.(868-870)TTC>TTT		TBC1 domain family, member 8							29.0	32.0	31.0					2																	101656805		1941	4148	6089	SO:0001819	synonymous_variant	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101656805G>A	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.870C>T	2.37:g.101656805G>A						TBC1D8_uc010yvw.1_Silent_p.F305F|TBC1D8_uc002tau.3_Silent_p.F47F	p.F290F	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			6	1001	-			290			GRAM 2.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	c.870C>T	CCDS46375.1																																																																																				0.572	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1		NM_007063		6	16	0	0	0	1	0	6	16		
RGPD4	285190	broad.mit.edu	37	2	108496500	108496500	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:108496500T>A	ENST00000408999.3	+	21	5078	c.5001T>A	c.(4999-5001)gaT>gaA	p.D1667E	RGPD4_ENST00000354986.4_Missense_Mutation_p.D1667E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1667					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAAGTGCAGATCACTTAAACG	0.453																																						uc010ywk.1		NaN																	0				skin(2)	2						c.(4999-5001)GAT>GAA		RANBP2-like and GRIP domain containing 4							140.0	119.0	125.0					2																	108496500		692	1591	2283	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108496500T>A	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.5001T>A	2.37:g.108496500T>A	ENSP00000386810:p.Asp1667Glu					RGPD4_uc002tdu.2_Missense_Mutation_p.D854E|RGPD4_uc010ywl.1_RNA	p.D1667E	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			21	5083	+			1667					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.5001T>A	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	t	10.90	1.482512	0.26598	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.36878	1.23;1.23	0.854	0.854	0.19007	.	.	.	.	.	T	0.18087	0.0434	N	0.08118	0	0.22771	N	0.998755	B	0.18741	0.03	B	0.14023	0.01	T	0.21381	-1.0247	9	0.62326	D	0.03	-6.1465	7.1387	0.25543	0.0:0.0:0.0:1.0	.	1667	Q7Z3J3	RGPD4_HUMAN	E	1667;1667;1034	ENSP00000347081:D1667E;ENSP00000386810:D1667E	ENSP00000347081:D1667E	D	+	3	2	RGPD4	107862932	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	0.540000	0.23191	0.641000	0.30601	0.327000	0.21459	GAT		0.453	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2		XM_496581		35	123	0	0	0	1	0	35	123		
IL36A	27179	broad.mit.edu	37	2	113763586	113763586	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:113763586C>A	ENST00000259211.6	+	2	457	c.46C>A	c.(46-48)Cag>Aag	p.Q16K		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	16					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GGGGAGCATTCAGGATATCAA	0.468																																						uc010yxr.1		NaN																	0					0						c.(46-48)CAG>AAG		interleukin 1 family, member 6 (epsilon)							103.0	107.0	106.0					2																	113763586		1942	4131	6073	SO:0001583	missense	27179				immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113763586C>A	AF201831	CCDS42734.1	2q12-q14.1	2011-07-14	2011-06-06	2011-06-06	ENSG00000136694	ENSG00000136694		"""Interleukins and interleukin receptors"""	15562	protein-coding gene	gene with protein product		605509	"""interleukin 1 family, member 6 (epsilon)"""	IL1F6		10625660	Standard	XM_005263639		Approved	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552	uc010yxr.2	Q9UHA7	OTTHUMG00000153320	ENST00000259211.6:c.46C>A	2.37:g.113763586C>A	ENSP00000259211:p.Gln16Lys						p.Q16K	NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN			2	46	+			16					B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8	Missense_Mutation	SNP	ENST00000259211.6	37	c.46C>A	CCDS42734.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.517333	0.27123	.	.	ENSG00000136694	ENST00000259211	T	0.16597	2.33	4.9	4.02	0.46733	.	0.467905	0.20254	N	0.096014	T	0.09905	0.0243	N	0.17564	0.495	0.09310	N	0.999998	P	0.43750	0.816	B	0.39706	0.307	T	0.16571	-1.0398	10	0.25751	T	0.34	-14.0795	8.9618	0.35851	0.0:0.8988:0.0:0.1012	.	16	Q9UHA7	IL36A_HUMAN	K	16	ENSP00000259211:Q16K	ENSP00000259211:Q16K	Q	+	1	0	IL36A	113480057	0.470000	0.25854	0.356000	0.25785	0.295000	0.27426	0.500000	0.22562	1.268000	0.44264	0.585000	0.79938	CAG		0.468	IL36A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330711.1		NM_014440		29	45	1	0	3.69857e-22	1	3.90991e-22	29	45		
EPB41L5	57669	broad.mit.edu	37	2	120844814	120844814	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:120844814C>G	ENST00000263713.5	+	11	1085	c.871C>G	c.(871-873)Cag>Gag	p.Q291E	EPB41L5_ENST00000443902.2_Missense_Mutation_p.Q291E|EPB41L5_ENST00000443124.1_Missense_Mutation_p.Q291E|EPB41L5_ENST00000452780.1_Missense_Mutation_p.Q291E|EPB41L5_ENST00000331393.4_Missense_Mutation_p.Q291E	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	291	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGATGATGATCAGGTAGGAAT	0.294																																						uc002tmg.2		NaN																	0				ovary(1)	1						c.(871-873)CAG>GAG		erythrocyte membrane protein band 4.1 like 5							67.0	76.0	73.0					2																	120844814		2199	4296	6495	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120844814C>G	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.871C>G	2.37:g.120844814C>G	ENSP00000263713:p.Gln291Glu					EPB41L5_uc010flk.2_Missense_Mutation_p.Q291E|EPB41L5_uc010fll.2_Missense_Mutation_p.Q291E|EPB41L5_uc002tmh.3_Missense_Mutation_p.Q291E|EPB41L5_uc010flm.2_Missense_Mutation_p.Q95E	p.Q291E	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN			11	997	+			291			FERM.		Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.871C>G	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953252	0.53293	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	T;T;D;D;T	0.81499	-1.47;-1.47;-1.5;-1.5;-1.47	4.74	4.74	0.60224	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	N	0.11756	0.17	0.80722	D	1	B;B;B;P	0.39601	0.086;0.292;0.016;0.68	B;B;B;B	0.40066	0.051;0.097;0.017;0.318	T	0.66748	-0.5845	10	0.16420	T	0.52	.	17.7294	0.88373	0.0:1.0:0.0:0.0	.	291;291;291;291	Q9HCM4-3;Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;.;E41L5_HUMAN	E	291	ENSP00000263713:Q291E;ENSP00000393856:Q291E;ENSP00000329687:Q291E;ENSP00000393722:Q291E;ENSP00000390439:Q291E	ENSP00000263713:Q291E	Q	+	1	0	EPB41L5	120561284	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.592000	0.82676	2.194000	0.70268	0.655000	0.94253	CAG		0.294	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2		NM_020909		9	50	0	0	0	1	0	9	50		
AMER3	205147	broad.mit.edu	37	2	131521644	131521644	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:131521644C>G	ENST00000423981.1	+	2	2109	c.1999C>G	c.(1999-2001)Ctg>Gtg	p.L667V	AMER3_ENST00000321420.4_Missense_Mutation_p.L667V	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	667					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AGGTGACACTCTGGATGCAGA	0.652																																						uc002trw.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(1999-2001)CTG>GTG		hypothetical protein LOC205147							22.0	25.0	24.0					2																	131521644		2201	4300	6501	SO:0001583	missense	205147							g.chr2:131521644C>G	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1999C>G	2.37:g.131521644C>G	ENSP00000392700:p.Leu667Val					FAM123C_uc010fmv.2_Missense_Mutation_p.L667V|FAM123C_uc010fms.1_Missense_Mutation_p.L667V|FAM123C_uc010fmt.1_Missense_Mutation_p.L667V|FAM123C_uc010fmu.1_Missense_Mutation_p.L667V	p.L667V	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	2189	+	Colorectal(110;0.1)		667					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1999C>G	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	8.767	0.924897	0.18056	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.52295	0.67;0.67	3.94	0.0355	0.14188	.	0.894418	0.09213	N	0.833038	T	0.27798	0.0684	L	0.29908	0.895	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.23048	-1.0199	10	0.18276	T	0.48	.	1.1795	0.01842	0.1786:0.4413:0.1736:0.2065	.	667	Q8N944	F123C_HUMAN	V	667	ENSP00000314914:L667V;ENSP00000392700:L667V	ENSP00000314914:L667V	L	+	1	2	FAM123C	131238114	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.704000	0.05058	-0.115000	0.11915	0.462000	0.41574	CTG		0.652	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3		NM_152698		8	17	0	0	0	1	0	8	17		
LRP1B	53353	broad.mit.edu	37	2	141816461	141816461	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:141816461G>C	ENST00000389484.3	-	9	2370	c.1399C>G	c.(1399-1401)Caa>Gaa	p.Q467E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	467					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTGTTGGTTGAGTTCTTTTT	0.358										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(1399-1401)CAA>GAA		low density lipoprotein-related protein 1B							82.0	81.0	81.0					2																	141816461		2201	4298	6499	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141816461G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1399C>G	2.37:g.141816461G>C	ENSP00000374135:p.Gln467Glu	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.Q467E	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	9	2371	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	467			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1399C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452016	0.43531	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97404	-4.37	5.45	5.45	0.79879	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000002	D	0.96830	0.8965	M	0.86268	2.805	0.51233	D	0.999914	B	0.34015	0.435	B	0.30179	0.112	D	0.96820	0.9603	10	0.87932	D	0	.	19.2905	0.94096	0.0:0.0:1.0:0.0	.	467	Q9NZR2	LRP1B_HUMAN	E	467;405	ENSP00000374135:Q467E	ENSP00000374135:Q467E	Q	-	1	0	LRP1B	141532931	1.000000	0.71417	0.989000	0.46669	0.293000	0.27360	9.373000	0.97168	2.573000	0.86826	0.462000	0.41574	CAA		0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		10	42	0	0	0	1	0	10	42		
ARL6IP6	151188	broad.mit.edu	37	2	153591519	153591519	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:153591519C>G	ENST00000326446.5	+	3	1177	c.466C>G	c.(466-468)Cta>Gta	p.L156V	ARL6IP6_ENST00000463690.1_3'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6	156						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						ATTCTGGACTCTACTTATAAT	0.363																																						uc002tyn.2		NaN																	0					0						c.(466-468)CTA>GTA		ADP-ribosylation-like factor 6 interacting							151.0	156.0	154.0					2																	153591519		2203	4300	6503	SO:0001583	missense	151188					integral to membrane		g.chr2:153591519C>G	AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901	ENST00000326446.5:c.466C>G	2.37:g.153591519C>G	ENSP00000315357:p.Leu156Val					ARL6IP6_uc002tym.2_RNA|ARL6IP6_uc002tyo.2_Missense_Mutation_p.L48V	p.L156V	NM_152522	NP_689735	Q8N6S5	AR6P6_HUMAN			3	1182	+			156			Helical; (Potential).		B2RDS6|Q7Z4G7	Missense_Mutation	SNP	ENST00000326446.5	37	c.466C>G	CCDS2197.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885477	0.72410	.	.	ENSG00000177917	ENST00000326446	.	.	.	5.87	4.99	0.66335	.	0.094781	0.44483	D	0.000459	T	0.73908	0.3647	M	0.65975	2.015	0.41619	D	0.988959	P;D	0.65815	0.936;0.995	P;P	0.59948	0.64;0.866	T	0.76629	-0.2889	9	0.72032	D	0.01	-10.4681	14.4088	0.67101	0.0:0.9266:0.0:0.0734	.	156;156	B3KMZ5;Q8N6S5	.;AR6P6_HUMAN	V	156	.	ENSP00000315357:L156V	L	+	1	2	ARL6IP6	153299765	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.101000	0.41787	2.780000	0.95670	0.655000	0.94253	CTA		0.363	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3		NM_152522		25	87	0	0	0	1	0	25	87		
CCDC148	130940	broad.mit.edu	37	2	159195330	159195330	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:159195330C>G	ENST00000283233.5	-	7	985	c.672G>C	c.(670-672)ttG>ttC	p.L224F	CCDC148_ENST00000409187.1_Missense_Mutation_p.L233F|CCDC148_ENST00000409889.1_Missense_Mutation_p.L224F|CCDC148_ENST00000536771.1_Missense_Mutation_p.L138F	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	224										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTGAAGATTTCAAATCAGGGT	0.353																																						uc002tzq.2		NaN																	0				ovary(2)	2						c.(670-672)TTG>TTC		coiled-coil domain containing 148							91.0	96.0	94.0					2																	159195330		2203	4300	6503	SO:0001583	missense	130940							g.chr2:159195330C>G		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.672G>C	2.37:g.159195330C>G	ENSP00000283233:p.Leu224Phe					CCDC148_uc002tzr.2_Missense_Mutation_p.L72F|CCDC148_uc010foh.2_Intron|CCDC148_uc010foi.1_Missense_Mutation_p.L171F|CCDC148_uc010foj.1_Missense_Mutation_p.L72F|CCDC148_uc010fok.1_Missense_Mutation_p.L138F|CCDC148_uc002tzs.1_Missense_Mutation_p.L224F	p.L224F	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN			7	935	-			224					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.672G>C	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323295	0.41096	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187;ENST00000536771;ENST00000409889	T;T;T;T	0.59906	0.68;0.67;0.23;0.4	5.89	3.16	0.36331	.	.	.	.	.	T	0.68100	0.2964	M	0.62723	1.935	0.39567	D	0.969221	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.998	T	0.64516	-0.6389	9	0.32370	T	0.25	-8.5515	8.3652	0.32382	0.0:0.7564:0.0:0.2436	.	138;72;72;233;224	F5H839;C9JR76;Q8NFR7-2;B8ZZV3;Q8NFR7	.;.;.;.;CC148_HUMAN	F	224;72;233;138;224	ENSP00000283233:L224F;ENSP00000386674:L233F;ENSP00000443740:L138F;ENSP00000386583:L224F	ENSP00000283233:L224F	L	-	3	2	CCDC148	158903576	1.000000	0.71417	0.998000	0.56505	0.356000	0.29392	2.215000	0.42862	0.410000	0.25675	0.585000	0.79938	TTG		0.353	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1		NM_138803		18	52	0	0	0	1	0	18	52		
PLA2R1	22925	broad.mit.edu	37	2	160824175	160824175	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:160824175C>T	ENST00000283243.7	-	20	2985	c.2779G>A	c.(2779-2781)Gaa>Aaa	p.E927K	PLA2R1_ENST00000392771.1_Missense_Mutation_p.E927K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	927	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GAACACTCTTCACTACCCCAG	0.403																																						uc002ube.1		NaN																	0				skin(2)|ovary(1)	3						c.(2779-2781)GAA>AAA		phospholipase A2 receptor 1 isoform 1 precursor							111.0	103.0	106.0					2																	160824175		2203	4300	6503	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160824175C>T	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2779G>A	2.37:g.160824175C>T	ENSP00000283243:p.Glu927Lys					PLA2R1_uc010zcp.1_Missense_Mutation_p.E927K|PLA2R1_uc002ubf.2_Missense_Mutation_p.E927K	p.E927K	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			20	2986	-			927			Extracellular (Potential).|C-type lectin 5.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.2779G>A	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632222	0.46944	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.19806	2.12;2.12	5.76	4.89	0.63831	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.780806	0.12728	N	0.444133	T	0.18635	0.0447	L	0.43757	1.38	0.09310	N	0.99999	P;P;P	0.40834	0.464;0.73;0.549	B;B;B	0.36186	0.219;0.156;0.197	T	0.08554	-1.0716	10	0.23891	T	0.37	.	13.0246	0.58808	0.0:0.9245:0.0:0.0755	.	927;927;927	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	K	927	ENSP00000283243:E927K;ENSP00000376524:E927K	ENSP00000283243:E927K	E	-	1	0	PLA2R1	160532421	0.993000	0.37304	0.239000	0.24122	0.995000	0.86356	3.005000	0.49521	1.568000	0.49683	0.650000	0.86243	GAA		0.403	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1				18	87	0	0	0	1	0	18	87		
FAP	2191	broad.mit.edu	37	2	163076436	163076436	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:163076436C>G	ENST00000188790.4	-	7	621		c.e7-1		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TACAAATTCTCTAGAAGGAAA	0.294																																						uc002ucd.2		NaN																	0				ovary(3)	3						c.e7-1		fibroblast activation protein, alpha subunit							41.0	42.0	42.0					2																	163076436		2202	4298	6500	SO:0001630	splice_region_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163076436C>G	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.414-1G>C	2.37:g.163076436C>G						FAP_uc010zct.1_Splice_Site_p.G113_splice|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Splice_Site_p.G105_splice	p.G138_splice	NM_004460	NP_004451	Q12884	SEPR_HUMAN			7	622	-									Splice_Site	SNP	ENST00000188790.4	37	c.414_splice	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864041	0.71949	.	.	ENSG00000078098	ENST00000188790;ENST00000443424;ENST00000447386	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4447	0.99122	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAP	162784682	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	5.749000	0.68704	2.834000	0.97654	0.655000	0.94253	.		0.294	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			Intron	16	28	0	0	0	1	0	16	28		
SCN3A	6328	broad.mit.edu	37	2	165956858	165956858	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:165956858C>G	ENST00000360093.3	-	22	4411	c.3920G>C	c.(3919-3921)aGa>aCa	p.R1307T	SCN3A_ENST00000283254.7_Missense_Mutation_p.R1307T|SCN3A_ENST00000409101.3_Missense_Mutation_p.R1258T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1307					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTAAAGCTCTTAATGTCCG	0.378																																						uc002ucx.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3919-3921)AGA>ACA		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						80.0	78.0	79.0					2																	165956858		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165956858C>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3920G>C	2.37:g.165956858C>G	ENSP00000353206:p.Arg1307Thr					SCN3A_uc002ucy.2_Missense_Mutation_p.R1258T|SCN3A_uc002ucz.2_Missense_Mutation_p.R1258T|SCN3A_uc002uda.1_Missense_Mutation_p.R1127T|SCN3A_uc002udb.1_Missense_Mutation_p.R1127T	p.R1307T	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			22	4412	-			1307			Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.3920G>C		.	.	.	.	.	.	.	.	.	.	C	16.13	3.036884	0.54896	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14	5.35	4.48	0.54585	Ion transport (1);	0.000000	0.64402	D	0.000005	D	0.99664	0.9875	H	0.99991	5.33	0.80722	D	1	D;P;B;B;D	0.89917	1.0;0.643;0.447;0.447;1.0	D;B;B;B;D	0.97110	1.0;0.404;0.148;0.148;1.0	D	0.96712	0.9526	10	0.87932	D	0	.	14.3097	0.66407	0.0:0.9283:0.0:0.0717	.	1307;1258;1258;1258;1307	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	T	1307;1307;1258;1258	ENSP00000353206:R1307T;ENSP00000283254:R1307T;ENSP00000386726:R1258T;ENSP00000403348:R1258T	ENSP00000283254:R1307T	R	-	2	0	SCN3A	165665104	1.000000	0.71417	0.895000	0.35142	0.064000	0.16182	7.776000	0.85560	1.401000	0.46761	-0.229000	0.12294	AGA		0.378	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_006922		7	66	0	0	0	1	0	7	66		
SCN2A	6326	broad.mit.edu	37	2	166243479	166243479	+	Missense_Mutation	SNP	T	T	C	rs199641159		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:166243479T>C	ENST00000375437.2	+	26	5065	c.4775T>C	c.(4774-4776)aTt>aCt	p.I1592T	SCN2A_ENST00000357398.3_Missense_Mutation_p.I1592T|SCN2A_ENST00000283256.6_Missense_Mutation_p.I1592T|SCN2A_ENST00000375427.2_Missense_Mutation_p.I1592T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1592					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TATTTCACTATTGGATGGAAT	0.343																																						uc002udc.2		NaN																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(4774-4776)ATT>ACT		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						208.0	193.0	198.0					2																	166243479		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166243479T>C	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4775T>C	2.37:g.166243479T>C	ENSP00000364586:p.Ile1592Thr					SCN2A_uc002udd.2_Missense_Mutation_p.I1592T|SCN2A_uc002ude.2_Missense_Mutation_p.I1592T	p.I1592T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			26	5065	+			1592			Helical; Name=S3 of repeat IV; (Potential).|IV.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4775T>C	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.194909	0.58017	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86	5.17	5.17	0.71159	Ion transport (1);	0.063223	0.64402	D	0.000009	D	0.98394	0.9466	M	0.69823	2.125	0.49687	D	0.999814	B;P	0.46457	0.196;0.878	B;P	0.58820	0.125;0.846	D	0.98433	1.0583	10	0.31617	T	0.26	.	15.0121	0.71557	0.0:0.0:0.0:1.0	.	1592;1592	Q99250-2;Q99250	.;SCN2A_HUMAN	T	1592	ENSP00000364586:I1592T;ENSP00000349973:I1592T;ENSP00000283256:I1592T;ENSP00000364576:I1592T	ENSP00000283256:I1592T	I	+	2	0	SCN2A	165951725	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	6.330000	0.72925	1.957000	0.56846	0.528000	0.53228	ATT		0.343	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2		NM_021007		18	72	0	0	0	1	0	18	72		
SCN1A	6323	broad.mit.edu	37	2	166901813	166901813	+	Missense_Mutation	SNP	C	C	G	rs138602926		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:166901813C>G	ENST00000303395.4	-	10	1401	c.1402G>C	c.(1402-1404)Gaa>Caa	p.E468Q	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E468Q|SCN1A_ENST00000409050.1_Missense_Mutation_p.E468Q|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.E468Q			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	468					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGGAATGTTCTGAGGCAGTT	0.458																																						uc010zcz.1		NaN																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(1402-1404)GAA>CAA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						82.0	85.0	84.0					2																	166901813		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166901813C>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1402G>C	2.37:g.166901813C>G	ENSP00000303540:p.Glu468Gln					SCN1A_uc002udo.3_Missense_Mutation_p.E337Q|SCN1A_uc010fpk.2_Missense_Mutation_p.E337Q	p.E468Q	NM_006920	NP_008851	P35498	SCN1A_HUMAN			10	1420	-			468					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1402G>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141393	0.37825	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	T;T;T;T	0.71222	-0.55;-0.55;-0.55;1.73	5.63	5.63	0.86233	.	0.954599	0.08720	N	0.903669	T	0.61677	0.2366	L	0.29908	0.895	0.42502	D	0.992936	B;B;B	0.21905	0.062;0.037;0.037	B;B;B	0.20384	0.029;0.013;0.013	T	0.43988	-0.9357	10	0.25106	T	0.35	.	13.2856	0.60241	0.0:0.9277:0.0:0.0723	.	468;468;468	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Q	468	ENSP00000407030:E468Q;ENSP00000303540:E468Q;ENSP00000364554:E468Q;ENSP00000386312:E468Q	ENSP00000303540:E468Q	E	-	1	0	SCN1A	166610059	0.949000	0.32298	0.990000	0.47175	0.977000	0.68977	4.513000	0.60476	2.826000	0.97356	0.655000	0.94253	GAA		0.458	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920		8	115	0	0	0	1	0	8	115		
PDE11A	50940	broad.mit.edu	37	2	178528629	178528629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:178528629C>A	ENST00000286063.6	-	19	2928	c.2611G>T	c.(2611-2613)Gag>Tag	p.E871*	PDE11A_ENST00000449286.2_Nonsense_Mutation_p.E513*|PDE11A_ENST00000358450.4_Nonsense_Mutation_p.E621*|PDE11A_ENST00000389683.3_Nonsense_Mutation_p.E427*|PDE11A_ENST00000450799.2_Nonsense_Mutation_p.E62*|PDE11A_ENST00000409504.1_Nonsense_Mutation_p.E513*	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	871	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TCAATCCACTCCAGTTGCAAC	0.438									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(2611-2613)GAG>TAG		phosphodiesterase 11A isoform 4							120.0	103.0	109.0					2																	178528629		2203	4300	6503	SO:0001587	stop_gained	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178528629C>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2611G>T	2.37:g.178528629C>A	ENSP00000286063:p.Glu871*					PDE11A_uc010zfd.1_Nonsense_Mutation_p.E62*|PDE11A_uc002ulp.2_Nonsense_Mutation_p.E427*|PDE11A_uc002ulr.2_Nonsense_Mutation_p.E621*|PDE11A_uc002uls.1_Nonsense_Mutation_p.E513*|PDE11A_uc002ult.1_Nonsense_Mutation_p.E621*|PDE11A_uc002ulu.1_Nonsense_Mutation_p.E513*	p.E871*	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		19	2929	-			871			Catalytic (By similarity).		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Nonsense_Mutation	SNP	ENST00000286063.6	37	c.2611G>T	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.109582|8.109582	0.98659|0.98659	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000450799;ENST00000409504;ENST00000389683;ENST00000449286|ENST00000436700	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.044076|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77384	.|0.4122	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73820	.|-0.3862	.|4	0.39692|.	T|.	0.17|.	.|.	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	871;621;62;513;427;513|73	.|.	ENSP00000286063:E871X|.	E|G	-|-	1|2	0|0	PDE11A|PDE11A	178236875|178236875	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.698000|6.698000	0.74608|0.74608	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.438	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2				13	51	1	0	7.93312e-07	1	8.13734e-07	13	51		
PDE11A	50940	broad.mit.edu	37	2	178545621	178545621	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:178545621C>G	ENST00000286063.6	-	16	2673	c.2356G>C	c.(2356-2358)Gaa>Caa	p.E786Q	PDE11A_ENST00000449286.2_Missense_Mutation_p.E428Q|PDE11A_ENST00000358450.4_Missense_Mutation_p.E536Q|PDE11A_ENST00000389683.3_Missense_Mutation_p.E342Q|PDE11A_ENST00000409504.1_Missense_Mutation_p.E428Q	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	786	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TCAAAGAATTCAGTTCTCCTC	0.353									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(2356-2358)GAA>CAA		phosphodiesterase 11A isoform 4							99.0	96.0	97.0					2																	178545621		2202	4297	6499	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178545621C>G	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2356G>C	2.37:g.178545621C>G	ENSP00000286063:p.Glu786Gln					PDE11A_uc002ulp.2_Missense_Mutation_p.E342Q|PDE11A_uc002ulr.2_Missense_Mutation_p.E536Q|PDE11A_uc002uls.1_Missense_Mutation_p.E428Q|PDE11A_uc002ult.1_Missense_Mutation_p.E536Q|PDE11A_uc002ulu.1_Missense_Mutation_p.E428Q	p.E786Q	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		16	2674	-			786			Catalytic (By similarity).		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.2356G>C	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569988	0.28003	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	5.61	5.61	0.85477	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.391220	0.32785	N	0.005660	T	0.63792	0.2541	N	0.10972	0.075	0.80722	D	1	B;B	0.15141	0.003;0.012	B;B	0.15870	0.005;0.014	T	0.56992	-0.7887	10	0.21540	T	0.41	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	536;786	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	Q	786;536;428;342;428	ENSP00000286063:E786Q;ENSP00000351232:E536Q;ENSP00000386539:E428Q;ENSP00000374333:E342Q;ENSP00000390599:E428Q	ENSP00000286063:E786Q	E	-	1	0	PDE11A	178253867	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.199000	0.58426	2.808000	0.96608	0.655000	0.94253	GAA		0.353	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2				4	23	0	0	0	1	0	4	23		
TTN	7273	broad.mit.edu	37	2	179596906	179596906	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:179596906G>C	ENST00000591111.1	-	55	16063	c.15839C>G	c.(15838-15840)tCt>tGt	p.S5280C	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S4353C|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S5597C|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12098	Ig-like 33.				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)			AACTGCAGTAGACTCCACAAA	0.433																																						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.(13057-13059)TCT>TGT		titin isoform N2-A							177.0	173.0	174.0					2																	179596906		1939	4153	6092	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596906G>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.15839C>G	2.37:g.179596906G>C	ENSP00000465570:p.Ser5280Cys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1014C	p.S4353C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		54	13282	-			5280					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.13058C>G		.	.	.	.	.	.	.	.	.	.	G	7.589	0.670448	0.14776	.	.	ENSG00000155657	ENST00000342992	T	0.68624	-0.34	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84133	0.5405	M	0.82630	2.6	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.84620	0.0683	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	5280	Q8WZ42	TITIN_HUMAN	C	4353	ENSP00000343764:S4353C	ENSP00000343764:S4353C	S	-	2	0	TTN	179305151	1.000000	0.71417	0.999000	0.59377	0.795000	0.44927	5.138000	0.64795	2.941000	0.99782	0.655000	0.94253	TCT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		59	151	0	0	0	1	0	59	151		
ANKRD44	91526	broad.mit.edu	37	2	197870475	197870475	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:197870475C>T	ENST00000328737.2	-	21	2291	c.2215G>A	c.(2215-2217)Gac>Aac	p.D739N	ANKRD44_ENST00000337207.5_Missense_Mutation_p.D739N|ANKRD44_ENST00000282272.8_Missense_Mutation_p.D756N|ANKRD44_ENST00000450567.1_Missense_Mutation_p.D739N			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	764										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAACAACAGTCCTCCTCAGAA	0.522																																						uc002uua.1		NaN																	0				ovary(4)|skin(1)	5						c.(2215-2217)GAC>AAC		ankyrin repeat domain 44							130.0	124.0	126.0					2																	197870475		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197870475C>T	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2215G>A	2.37:g.197870475C>T	ENSP00000331516:p.Asp739Asn					ANKRD44_uc002utz.3_Missense_Mutation_p.D471N	p.D739N	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		21	2292	-			764			ANK 22.		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.2215G>A		.	.	.	.	.	.	.	.	.	.	C	10.62	1.401982	0.25291	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207	T;T;T;T;T	0.15256	2.46;2.46;2.44;2.44;2.44	5.07	5.07	0.68467	.	0.211462	0.42548	D	0.000682	T	0.26702	0.0653	N	0.16478	0.41	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.04607	-1.0939	10	0.35671	T	0.21	.	16.8129	0.85725	0.0:1.0:0.0:0.0	.	782	Q8N8A2-2	.	N	579;756;739;739;739	ENSP00000403415:D579N;ENSP00000282272:D756N;ENSP00000331516:D739N;ENSP00000402420:D739N;ENSP00000338794:D739N	ENSP00000282272:D756N	D	-	1	0	ANKRD44	197578720	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.125000	0.50469	2.650000	0.89964	0.655000	0.94253	GAC		0.522	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1		NM_153697		10	126	0	0	0	1	0	10	126		
SATB2	23314	broad.mit.edu	37	2	200137286	200137286	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:200137286G>A	ENST00000417098.1	-	11	2666	c.1850C>T	c.(1849-1851)tCt>tTt	p.S617F	SATB2_ENST00000457245.1_Missense_Mutation_p.S617F|SATB2_ENST00000260926.5_Missense_Mutation_p.S617F|SATB2_ENST00000443023.1_Missense_Mutation_p.S558F|SATB2_ENST00000428695.1_Missense_Mutation_p.S499F	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	617					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTTGTGCGAGACCGGGGCTT	0.557																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NaN																	0				ovary(1)	1						c.(1849-1851)TCT>TTT		SATB homeobox 2							70.0	76.0	74.0					2																	200137286		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137286G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1850C>T	2.37:g.200137286G>A	ENSP00000401112:p.Ser617Phe					SATB2_uc010fsq.1_Missense_Mutation_p.S499F|SATB2_uc002uuz.1_Missense_Mutation_p.S617F|SATB2_uc002uva.1_Missense_Mutation_p.S617F	p.S617F	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			11	2667	-			617			Homeobox.		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1850C>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383642	0.61845	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99	5.47	5.47	0.80525	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.070431	0.64402	D	0.000015	D	0.96147	0.8744	N	0.14661	0.345	0.48696	D	0.999692	D;B	0.67145	0.996;0.002	D;B	0.77557	0.99;0.003	D	0.97341	0.9957	10	0.72032	D	0.01	-10.2288	19.7423	0.96237	0.0:0.0:1.0:0.0	.	499;617	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	F	617;558;617;499;617	ENSP00000401112:S617F;ENSP00000388764:S558F;ENSP00000260926:S617F;ENSP00000388581:S499F;ENSP00000405420:S617F	ENSP00000260926:S617F	S	-	2	0	SATB2	199845531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.144000	0.71762	2.737000	0.93849	0.644000	0.83932	TCT		0.557	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1		NM_015265		24	66	0	0	0	1	0	24	66		
ABI2	10152	broad.mit.edu	37	2	204244965	204244965	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:204244965G>A	ENST00000422511.2	+	3	351	c.320G>A	c.(319-321)aGa>aAa	p.R107K	ABI2_ENST00000424558.1_Missense_Mutation_p.R107K|ABI2_ENST00000261016.6_Missense_Mutation_p.R62K|ABI2_ENST00000430418.1_Missense_Mutation_p.R107K|ABI2_ENST00000261017.5_Missense_Mutation_p.R107K|ABI2_ENST00000295851.5_Missense_Mutation_p.R107K|ABI2_ENST00000261018.7_5'Flank			Q9NYB9	ABI2_HUMAN	abl-interactor 2	107	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GTTGCAAGAAGAGAAATTGGT	0.299																																						uc002vaa.2		NaN																	0					0						c.(319-321)AGA>AAA		abl interactor 2							72.0	75.0	74.0					2																	204244965		2203	4296	6499	SO:0001583	missense	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204244965G>A	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.320G>A	2.37:g.204244965G>A	ENSP00000396249:p.Arg107Lys					ABI2_uc010zig.1_RNA|ABI2_uc002uzz.2_Missense_Mutation_p.R107K|ABI2_uc010zih.1_Intron|ABI2_uc010zii.1_Missense_Mutation_p.R107K|ABI2_uc010zij.1_Missense_Mutation_p.R51K|ABI2_uc002vab.2_Missense_Mutation_p.R62K|ABI2_uc010zik.1_5'UTR|ABI2_uc010zil.1_5'UTR|ABI2_uc010zim.1_5'UTR	p.R107K	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN			3	555	+			107			t-SNARE coiled-coil homology.		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37	c.320G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.600335	0.96614	.	.	ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511	D;D;D;D;T;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-0.06;-2.89;-2.89	5.54	5.54	0.83059	Abl-interactor, homeo-domain homologous domain (1);Target SNARE coiled-coil domain (1);	0.000000	0.85682	D	0.000000	D	0.96213	0.8765	M	0.77103	2.36	0.80722	D	1	D;P;D;P;D	0.71674	0.998;0.872;0.99;0.895;0.994	D;P;D;P;D	0.85130	0.997;0.72;0.979;0.816;0.993	D	0.96373	0.9275	10	0.87932	D	0	-12.8094	19.4859	0.95028	0.0:0.0:1.0:0.0	.	51;107;62;107;107	B7Z836;Q9NYB9-4;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.;.;.;ABI2_HUMAN;.	K	107;107;107;107;62;107;107	ENSP00000295851:R107K;ENSP00000261017:R107K;ENSP00000408898:R107K;ENSP00000391433:R107K;ENSP00000261016:R62K;ENSP00000414703:R107K;ENSP00000396249:R107K	ENSP00000261016:R62K	R	+	2	0	ABI2	203953210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.617000	0.88574	0.591000	0.81541	AGA		0.299	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2		NM_005759		17	48	0	0	0	1	0	17	48		
PIKFYVE	200576	broad.mit.edu	37	2	209190134	209190134	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:209190134C>G	ENST00000264380.4	+	20	2757	c.2599C>G	c.(2599-2601)Caa>Gaa	p.Q867E		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	867					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTATCATTCTCAACTAGAAAT	0.433																																						uc002vcz.2		NaN																	0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(2599-2601)CAA>GAA		phosphatidylinositol-3-phosphate 5-kinase type							138.0	137.0	138.0					2																	209190134		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190134C>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2599C>G	2.37:g.209190134C>G	ENSP00000264380:p.Gln867Glu					PIKFYVE_uc010fun.1_Missense_Mutation_p.Q548E|PIKFYVE_uc002vcy.1_Missense_Mutation_p.Q811E	p.Q867E	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			20	2757	+			867					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2599C>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006274	0.74932	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.28454	1.61;1.81	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.49626	0.1568	L	0.40543	1.245	0.80722	D	1	D;P	0.59357	0.985;0.932	D;D	0.73708	0.981;0.926	T	0.26849	-1.0091	10	0.45353	T	0.12	-12.8201	20.3472	0.98799	0.0:1.0:0.0:0.0	.	867;811	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	E	867;443;811	ENSP00000264380:Q867E;ENSP00000405736:Q811E	ENSP00000264380:Q867E	Q	+	1	0	PIKFYVE	208898379	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.776000	0.85560	2.890000	0.99128	0.650000	0.86243	CAA		0.433	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2		NM_015040		19	64	0	0	0	1	0	19	64		
PTH2R	5746	broad.mit.edu	37	2	209307167	209307167	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:209307167C>G	ENST00000272847.2	+	5	703	c.490C>G	c.(490-492)Ctc>Gtc	p.L164V	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	164					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TGTGGCTATTCTCATCATTGG	0.438																																						uc002vdb.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(490-492)CTC>GTC		parathyroid hormone 2 receptor precursor							354.0	297.0	316.0					2																	209307167		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209307167C>G	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.490C>G	2.37:g.209307167C>G	ENSP00000272847:p.Leu164Val					PTH2R_uc010zjb.1_Missense_Mutation_p.L175V	p.L164V	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	5	703	+			164			Helical; Name=1; (Potential).		Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.490C>G	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	C	5.049	0.194715	0.09599	.	.	ENSG00000144407	ENST00000272847	T	0.38887	1.11	5.13	2.99	0.34606	GPCR, family 2-like (1);	0.326840	0.20137	U	0.098463	T	0.21761	0.0524	N	0.20328	0.56	0.29297	N	0.86894	B;B	0.20368	0.044;0.02	B;B	0.29267	0.1;0.062	T	0.18429	-1.0337	10	0.09843	T	0.71	.	2.4359	0.04483	0.2951:0.4768:0.0:0.2281	.	53;164	B4DFN8;P49190	.;PTH2R_HUMAN	V	164	ENSP00000272847:L164V	ENSP00000272847:L164V	L	+	1	0	PTH2R	209015412	0.998000	0.40836	0.998000	0.56505	0.468000	0.32798	0.931000	0.28871	1.117000	0.41842	0.655000	0.94253	CTC		0.438	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2		NM_005048		34	82	0	0	0	1	0	34	82		
MAP2	4133	broad.mit.edu	37	2	210558518	210558518	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:210558518G>T	ENST00000360351.4	+	7	2130	c.1624G>T	c.(1624-1626)Gat>Tat	p.D542Y	MAP2_ENST00000447185.1_Missense_Mutation_p.D538Y|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	542					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AATGAGAGTTGATGACAAAGA	0.383																																					Pancreas(27;423 979 28787 29963)	uc002vde.1		NaN																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(1624-1626)GAT>TAT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						96.0	97.0	96.0					2																	210558518		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210558518G>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1624G>T	2.37:g.210558518G>T	ENSP00000353508:p.Asp542Tyr					MAP2_uc002vdc.1_Missense_Mutation_p.D542Y|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.D538Y	p.D542Y	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	1872	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	542					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1624G>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	0.699	-0.791646	0.02884	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.19105	2.17;2.17	6.16	1.29	0.21616	MAP2/Tau projection (1);	0.795414	0.11501	N	0.557646	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.007;0.009	B;B	0.09377	0.002;0.004	T	0.28267	-1.0049	10	0.59425	D	0.04	-0.7976	4.1194	0.10098	0.3184:0.0:0.4365:0.2451	.	538;542	P11137-3;P11137	.;MAP2_HUMAN	Y	542;538	ENSP00000353508:D542Y;ENSP00000392164:D538Y	ENSP00000353508:D542Y	D	+	1	0	MAP2	210266763	0.003000	0.15002	0.289000	0.24876	0.011000	0.07611	0.011000	0.13264	0.164000	0.19529	-0.157000	0.13467	GAT		0.383	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2		NM_001039538		28	64	1	0	2.12542e-12	1	2.21969e-12	28	64		
CNPPD1	27013	broad.mit.edu	37	2	220039607	220039607	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:220039607A>G	ENST00000409789.1	-	6	830	c.403T>C	c.(403-405)Tat>Cat	p.Y135H	CNPPD1_ENST00000360507.5_Missense_Mutation_p.Y135H			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	135					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CCTTCATCATAGAGGTACTTA	0.582																																						uc002vju.3		NaN																	0					0						c.(403-405)TAT>CAT		hypothetical protein LOC27013							80.0	77.0	78.0					2																	220039607		2203	4300	6503	SO:0001583	missense	27013				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding	g.chr2:220039607A>G	AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 24"""	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.403T>C	2.37:g.220039607A>G	ENSP00000386277:p.Tyr135His					C2orf24_uc002vjv.2_Missense_Mutation_p.Y135H	p.Y135H	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	555	-		Renal(207;0.0915)	135					B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	ENST00000409789.1	37	c.403T>C	CCDS2433.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.009823	0.75046	.	.	ENSG00000115649	ENST00000360507;ENST00000409789;ENST00000453038;ENST00000451647	T;T;T	0.41065	1.01;1.01;1.01	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	L	0.36672	1.1	0.58432	D	0.999998	D	0.53885	0.963	P	0.58520	0.84	T	0.23976	-1.0173	10	0.15952	T	0.53	-10.0253	13.8616	0.63564	1.0:0.0:0.0:0.0	.	135	Q9BV87	CNPD1_HUMAN	H	135;135;135;162	ENSP00000353698:Y135H;ENSP00000386277:Y135H;ENSP00000410109:Y135H	ENSP00000353698:Y135H	Y	-	1	0	CNPPD1	219747851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.017000	0.93651	1.873000	0.54277	0.459000	0.35465	TAT		0.582	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1		NM_015680		19	42	0	0	0	1	0	19	42		
EPHA4	2043	broad.mit.edu	37	2	222347094	222347094	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:222347094G>A	ENST00000281821.2	-	5	1337	c.1296C>T	c.(1294-1296)gtC>gtT	p.V432V	EPHA4_ENST00000409854.1_Silent_p.V432V|EPHA4_ENST00000392071.4_Silent_p.V381V|EPHA4_ENST00000409938.1_Silent_p.V432V	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	432	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGGTCACAGTGACAGAAACTG	0.373																																						uc002vmq.2		NaN																	0				lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(1294-1296)GTC>GTT		ephrin receptor EphA4 precursor							171.0	167.0	168.0					2																	222347094		2203	4300	6503	SO:0001819	synonymous_variant	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222347094G>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1296C>T	2.37:g.222347094G>A						EPHA4_uc002vmr.2_Silent_p.V432V|EPHA4_uc010zlm.1_Silent_p.V373V|EPHA4_uc010zln.1_Silent_p.V432V	p.V432V	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	5	1338	-		Renal(207;0.0183)	432			Extracellular (Potential).|Fibronectin type-III 1.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	ENST00000281821.2	37	c.1296C>T	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	G	9.131	1.011443	0.19277	.	.	ENSG00000116106	ENST00000441679	.	.	.	6.06	5.01	0.66863	.	.	.	.	.	T	0.64438	0.2598	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60541	-0.7243	4	.	.	.	.	12.5836	0.56403	0.1395:0.0:0.8605:0.0	.	.	.	.	L	169	.	.	S	-	2	0	EPHA4	222055338	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.930000	0.40124	2.882000	0.98803	0.655000	0.94253	TCA		0.373	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3				8	125	0	0	0	1	0	8	125		
ALPPL2	251	broad.mit.edu	37	2	233274450	233274450	+	Silent	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:233274450C>G	ENST00000295453.3	+	11	1519	c.1467C>G	c.(1465-1467)ccC>ccG	p.P489P		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	489					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GCCTGGAGCCCTACACCGCCT	0.741																																						uc002vss.3		NaN																	0				skin(1)	1						c.(1465-1467)CCC>CCG		placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)						12.0	16.0	15.0					2																	233274450		2183	4252	6435	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274450C>G	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1467C>G	2.37:g.233274450C>G							p.P489P	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1520	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	489					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.1467C>G	CCDS2491.1																																																																																				0.741	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2		NM_031313		5	9	0	0	0	1	0	5	9		
INPP5D	3635	broad.mit.edu	37	2	234102561	234102561	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:234102561G>C	ENST00000359570.5	+	25	2514	c.2514G>C	c.(2512-2514)gaG>gaC	p.E838D	INPP5D_ENST00000455936.2_Missense_Mutation_p.E602D|INPP5D_ENST00000450745.1_Missense_Mutation_p.E602D			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	850					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCAGGGGGAGATCAAGCTGC	0.617																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2548-2550)GAG>GAC		SH2 containing inositol phosphatase isoform a							55.0	59.0	58.0					2																	234102561		2033	4178	6211	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234102561G>C	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2514G>C	2.37:g.234102561G>C	ENSP00000352575:p.Glu838Asp					INPP5D_uc010zmp.1_Missense_Mutation_p.E849D	p.E850D	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	22	2703	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	850					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.2550G>C		.	.	.	.	.	.	.	.	.	.	G	13.80	2.344255	0.41498	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.96587	-4.0;-4.05;-4.05;-4.06;-4.06;-4.06	5.28	1.22	0.21188	.	0.565502	0.20495	N	0.091207	D	0.91106	0.7200	.	.	.	0.26212	N	0.979283	B;B	0.27971	0.196;0.124	B;B	0.26770	0.073;0.036	D	0.83511	0.0080	9	0.45353	T	0.12	.	4.8292	0.13432	0.3169:0.2859:0.3972:0.0	.	849;850	Q92835-2;Q92835	.;SHIP1_HUMAN	D	838;602;602;471;471;471	ENSP00000352575:E838D;ENSP00000407916:E602D;ENSP00000404610:E602D;ENSP00000400151:E471D;ENSP00000397421:E471D;ENSP00000405338:E471D	ENSP00000352575:E838D	E	+	3	2	INPP5D	233767300	1.000000	0.71417	0.932000	0.37286	0.967000	0.64934	1.444000	0.35068	0.183000	0.20059	0.650000	0.86243	GAG		0.617	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001017915		15	50	0	0	0	1	0	15	50		
USP40	55230	broad.mit.edu	37	2	234429685	234429685	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:234429685C>G	ENST00000427112.2	-	16	2309	c.2274G>C	c.(2272-2274)caG>caC	p.Q758H	USP40_ENST00000251722.6_Missense_Mutation_p.Q758H|USP40_ENST00000450966.1_Missense_Mutation_p.Q770H			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	758					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CAGATTCTAACTGGCATAAAT	0.343																																						uc010zmr.1		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(2308-2310)CAG>CAC		ubiquitin thioesterase 40							111.0	102.0	105.0					2																	234429685		1817	4068	5885	SO:0001583	missense	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234429685C>G	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2274G>C	2.37:g.234429685C>G	ENSP00000387898:p.Gln758His					USP40_uc010zmt.1_Missense_Mutation_p.Q414H	p.Q770H	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	16	2310	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	758					Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.2310G>C	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899495	0.33535	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000452724	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.43	-5.12	0.02893	.	1.215390	0.05703	N	0.594578	T	0.32763	0.0840	L	0.47716	1.5	0.09310	N	1	P;P	0.44380	0.744;0.834	B;B	0.43889	0.17;0.435	T	0.37056	-0.9722	10	0.48119	T	0.1	.	2.4879	0.04603	0.1894:0.4357:0.0941:0.2808	.	758;770	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	H	770;758;758;53	ENSP00000415434:Q770H;ENSP00000251722:Q758H;ENSP00000387898:Q758H;ENSP00000408853:Q53H	ENSP00000251722:Q758H	Q	-	3	2	USP40	234094424	0.000000	0.05858	0.001000	0.08648	0.849000	0.48306	-1.982000	0.01489	-0.647000	0.05444	0.585000	0.79938	CAG		0.343	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1		XM_114294		9	27	0	0	0	1	0	9	27		
CHGB	1114	broad.mit.edu	37	20	5903125	5903125	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:5903125T>C	ENST00000378961.4	+	4	539	c.335T>C	c.(334-336)aTc>aCc	p.I112T		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	112						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGGAGGACATCCAAGGCCCA	0.602																																						uc002wmg.2		NaN																	0				breast(3)|skin(2)|ovary(1)	6						c.(334-336)ATC>ACC		chromogranin B precursor							36.0	38.0	37.0					20																	5903125		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5903125T>C		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.335T>C	20.37:g.5903125T>C	ENSP00000368244:p.Ile112Thr					CHGB_uc010zqz.1_Intron	p.I112T	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	641	+			112					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.335T>C	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	T	0.404	-0.916572	0.02415	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.01647	4.71;4.71	5.57	3.62	0.41486	.	2.293660	0.01718	N	0.028119	T	0.00608	0.0020	N	0.00197	-1.87	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50021	-0.8876	10	0.02654	T	1	1.4419	4.496	0.11837	0.124:0.6107:0.1206:0.1447	.	112	P05060	SCG1_HUMAN	T	112;92	ENSP00000368244:I112T;ENSP00000416643:I92T	ENSP00000368244:I112T	I	+	2	0	CHGB	5851125	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	0.345000	0.19979	1.350000	0.45770	-0.230000	0.12252	ATC		0.602	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2		NM_001819		12	28	0	0	0	1	0	12	28		
SNRPB2	6629	broad.mit.edu	37	20	16719545	16719545	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:16719545C>A	ENST00000246071.6	+	5	643	c.427C>A	c.(427-429)Cag>Aag	p.Q143K	SNRPB2_ENST00000377943.5_Missense_Mutation_p.Q143K	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	143					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						ACCAAATCCTCAGGTAATTTT	0.328																																						uc002wph.1		NaN																	0				large_intestine(1)	1						c.(427-429)CAG>AAG		small nuclear ribonucleoprotein polypeptide B''							63.0	63.0	63.0					20																	16719545		2203	4300	6503	SO:0001583	missense	6629					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding	g.chr20:16719545C>A		CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"""RNA binding motif (RRM) containing"""	11155	protein-coding gene	gene with protein product		603520	"""small nuclear ribonucleoprotein polypeptide B2"", ""small nuclear ribonucleoprotein polypeptide B''"""			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.427C>A	20.37:g.16719545C>A	ENSP00000246071:p.Gln143Lys					SNRPB2_uc002wpi.1_Missense_Mutation_p.Q143K	p.Q143K	NM_003092	NP_003083	P08579	RU2B_HUMAN			5	643	+			143					B2R7J3|D3DW21|Q9UJD4	Missense_Mutation	SNP	ENST00000246071.6	37	c.427C>A	CCDS13123.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702637	0.30232	.	.	ENSG00000125870	ENST00000377943;ENST00000246071	T;T	0.44482	0.92;0.92	5.52	5.52	0.82312	.	0.207924	0.46145	D	0.000316	T	0.37183	0.0994	L	0.49350	1.555	0.58432	D	0.999998	B	0.09022	0.002	B	0.17098	0.017	T	0.28267	-1.0049	10	0.05959	T	0.93	-7.6933	17.9819	0.89144	0.0:1.0:0.0:0.0	.	143	P08579	RU2B_HUMAN	K	143	ENSP00000367178:Q143K;ENSP00000246071:Q143K	ENSP00000246071:Q143K	Q	+	1	0	SNRPB2	16667545	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.634000	0.61325	2.743000	0.94032	0.591000	0.81541	CAG		0.328	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1		NM_003092		6	16	1	0	2.0095e-06	1	2.05715e-06	6	16		
RALGAPA2	57186	broad.mit.edu	37	20	20563711	20563711	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:20563711T>A	ENST00000202677.7	-	20	2697	c.2690A>T	c.(2689-2691)gAt>gTt	p.D897V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	897					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATTTGAAGCATCGGTGGGACT	0.463																																						uc002wrz.2		NaN																	0				ovary(1)	1						c.(2689-2691)GAT>GTT		akt substrate AS250							76.0	73.0	74.0					20																	20563711		1940	4149	6089	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20563711T>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2690A>T	20.37:g.20563711T>A	ENSP00000202677:p.Asp897Val					RALGAPA2_uc010gcx.2_Missense_Mutation_p.D601V|RALGAPA2_uc010zsg.1_Missense_Mutation_p.D345V	p.D897V	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			20	2833	-			897					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.2690A>T	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.14|15.14	2.743779|2.743779	0.49151|0.49151	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	T|.	0.70045|.	-0.45|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.050253|.	0.85682|.	D|.	0.000000|.	T|T	0.72479|0.72479	0.3465|0.3465	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	P;P|.	0.50617|.	0.937;0.698|.	B;B|.	0.40940|.	0.344;0.155|.	T|T	0.71002|0.71002	-0.4718|-0.4718	10|5	0.56958|.	D|.	0.05|.	.|.	16.2903|16.2903	0.82747|0.82747	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	735;897|.	A8MSM5;Q2PPJ7|.	.;RGPA2_HUMAN|.	V|L	897|714	ENSP00000202677:D897V|.	ENSP00000202677:D897V|.	D|M	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20511711|20511711	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.550000|0.550000	0.35303|0.35303	3.956000|3.956000	0.56722|0.56722	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.463	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1		NM_020343		16	26	0	0	0	1	0	16	26		
ASXL1	171023	broad.mit.edu	37	20	31024321	31024321	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:31024321C>T	ENST00000375687.4	+	13	4230	c.3806C>T	c.(3805-3807)tCg>tTg	p.S1269L	ASXL1_ENST00000306058.5_Missense_Mutation_p.S1264L	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1269					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L1266fs*9(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTACTACCTCGAGAACACCT	0.493			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NaN		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		1	Deletion - Frameshift(1)	p.L1266fs*9(1)	haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(3805-3807)TCG>TTG		additional sex combs like 1 isoform 1							99.0	90.0	93.0					20																	31024321		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31024321C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3806C>T	20.37:g.31024321C>T	ENSP00000364839:p.Ser1269Leu					ASXL1_uc010geb.2_Missense_Mutation_p.S1160L	p.S1269L	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	4232	+			1269					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3806C>T	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185262	0.78677	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.16196	2.37;2.36	4.56	4.56	0.56223	.	0.530514	0.20093	N	0.099387	T	0.28001	0.0690	L	0.34521	1.04	0.39408	D	0.966699	D;D	0.76494	0.999;0.992	P;P	0.58970	0.849;0.694	T	0.02020	-1.1228	10	0.59425	D	0.04	-9.1261	16.7751	0.85549	0.0:1.0:0.0:0.0	.	1264;1269	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	L	1269;1269;1269;1190;1264	ENSP00000364839:S1269L;ENSP00000305119:S1264L	ENSP00000305119:S1264L	S	+	2	0	ASXL1	30487982	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	3.900000	0.56295	2.826000	0.97356	0.561000	0.74099	TCG		0.493	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2		NM_015338		19	60	0	0	0	1	0	19	60		
NDRG3	57446	broad.mit.edu	37	20	35310978	35310978	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:35310978C>T	ENST00000349004.1	-	7	468	c.387G>A	c.(385-387)ctG>ctA	p.L129L	NDRG3_ENST00000373803.2_Silent_p.L129L|NDRG3_ENST00000540765.1_Silent_p.L25L|NDRG3_ENST00000359675.2_Silent_p.L117L|NDRG3_ENST00000373773.3_Silent_p.L34L	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	129					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TGATGCTTTTCAGGCTGTGAA	0.453																																						uc002xfw.2		NaN																	0				ovary(1)	1						c.(385-387)CTG>CTA		N-myc downstream regulated gene 3 isoform a							169.0	134.0	146.0					20																	35310978		2203	4300	6503	SO:0001819	synonymous_variant	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35310978C>T	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.387G>A	20.37:g.35310978C>T						NDRG3_uc002xfx.2_Silent_p.L117L|NDRG3_uc010zvq.1_Silent_p.L34L|NDRG3_uc010zvr.1_Silent_p.L17L	p.L129L	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN			7	469	-		Myeloproliferative disorder(115;0.00878)	129					A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Silent	SNP	ENST00000349004.1	37	c.387G>A	CCDS13285.1																																																																																				0.453	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2				39	48	0	0	0	1	0	39	48		
PPP1R16B	26051	broad.mit.edu	37	20	37524349	37524349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:37524349C>T	ENST00000299824.1	+	4	652	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	PPP1R16B_ENST00000373331.2_Nonsense_Mutation_p.Q155*	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	155					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GATCCTCGTTCAGTAGTACGT	0.567																																						uc002xje.2		NaN																	0				upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(463-465)CAG>TAG		protein phosphatase 1 regulatory inhibitor							168.0	115.0	133.0					20																	37524349		2203	4300	6503	SO:0001587	stop_gained	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37524349C>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.463C>T	20.37:g.37524349C>T	ENSP00000299824:p.Gln155*					PPP1R16B_uc010ggc.2_Nonsense_Mutation_p.Q155*	p.Q155*	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			4	652	+		Myeloproliferative disorder(115;0.00878)	155			ANK 2.		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Nonsense_Mutation	SNP	ENST00000299824.1	37	c.463C>T	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.299068	0.81025	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	.	.	.	3.85	2.88	0.33553	.	0.146631	0.47455	D	0.000228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	13.6412	0.62253	0.0:0.8435:0.1565:0.0	.	.	.	.	X	155	.	ENSP00000299824:Q155X	Q	+	1	0	PPP1R16B	36957763	0.952000	0.32445	0.997000	0.53966	0.984000	0.73092	1.443000	0.35057	0.945000	0.37605	0.632000	0.83419	CAG		0.567	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2		NM_015568		9	18	0	0	0	1	0	9	18		
SEMG2	6407	broad.mit.edu	37	20	43850441	43850441	+	Silent	SNP	T	T	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:43850441T>C	ENST00000372769.3	+	2	258	c.168T>C	c.(166-168)caT>caC	p.H56H		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	56					sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACCAACAACATACTAAATCCA	0.403																																						uc010ggz.2		NaN																	0				skin(1)	1						c.(166-168)CAT>CAC		semenogelin II precursor							124.0	119.0	121.0					20																	43850441		2203	4300	6503	SO:0001819	synonymous_variant	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43850441T>C		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.168T>C	20.37:g.43850441T>C						SEMG2_uc002xnk.2_Silent_p.H56H|SEMG2_uc002xnl.2_Silent_p.H56H	p.H56H	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			2	225	+		Myeloproliferative disorder(115;0.0122)	56					Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	ENST00000372769.3	37	c.168T>C	CCDS13346.1																																																																																				0.403	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1		NM_003008		25	82	0	0	0	1	0	25	82		
NFATC2	4773	broad.mit.edu	37	20	50140650	50140650	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:50140650C>T	ENST00000396009.3	-	2	350		c.e2-1		NFATC2_ENST00000371564.3_Splice_Site|NFATC2_ENST00000609943.1_Splice_Site|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_Splice_Site	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2						B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTCGGCTCTTCTGGAAAGAGA	0.537																																						uc002xwd.2		NaN																	0				ovary(2)	2						c.e2-1		nuclear factor of activated T-cells,							36.0	43.0	40.0					20																	50140650		2196	4296	6492	SO:0001630	splice_region_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140650C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.131-1G>A	20.37:g.50140650C>T						NFATC2_uc002xwc.2_Splice_Site_p.E44_splice|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Splice_Site_p.E24_splice|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Splice_Site_p.E24_splice	p.E44_splice	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	351	-	Hepatocellular(150;0.248)							B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Splice_Site	SNP	ENST00000396009.3	37	c.131_splice	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062125	0.76187	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5004	0.95091	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFATC2	49574057	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.028000	0.76470	2.614000	0.88457	0.462000	0.41574	.		0.537	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2		NM_012340	Intron	13	32	0	0	0	1	0	13	32		
SPO11	23626	broad.mit.edu	37	20	55909876	55909876	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:55909876G>C	ENST00000371263.3	+	6	690	c.581G>C	c.(580-582)tGt>tCt	p.C194S	SPO11_ENST00000345868.4_Missense_Mutation_p.C156S|SPO11_ENST00000371260.4_Missense_Mutation_p.C156S	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	194					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			AAAGTGAATTGTACCTGTGGT	0.343								Editing and processing nucleases																														uc002xye.2		NaN																	0				breast(2)|skin(1)	3						c.(580-582)TGT>TCT	Editing_and_processing_nucleases	meiotic recombination protein SPO11 isoform a							101.0	97.0	99.0					20																	55909876		2203	4300	6503	SO:0001583	missense	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55909876G>C	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.581G>C	20.37:g.55909876G>C	ENSP00000360310:p.Cys194Ser					SPO11_uc002xyf.2_Missense_Mutation_p.C156S	p.C194S	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		6	674	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		194					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	ENST00000371263.3	37	c.581G>C	CCDS13456.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103472	0.76983	.	.	ENSG00000054796	ENST00000371263;ENST00000345868;ENST00000371260;ENST00000418127	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.60261	0.2255	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.81914	0.97;0.995	T	0.60767	-0.7198	10	0.38643	T	0.18	-17.7974	19.1051	0.93291	0.0:0.0:1.0:0.0	.	156;194	Q9Y5K1-2;Q9Y5K1	.;SPO11_HUMAN	S	194;156;156;172	ENSP00000360310:C194S;ENSP00000316034:C156S;ENSP00000360307:C156S;ENSP00000413185:C172S	ENSP00000316034:C156S	C	+	2	0	SPO11	55343283	1.000000	0.71417	0.056000	0.19401	0.119000	0.20118	8.792000	0.91856	2.568000	0.86640	0.563000	0.77884	TGT		0.343	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2		NM_012444		10	33	0	0	0	1	0	10	33		
SYCP2	10388	broad.mit.edu	37	20	58467098	58467098	+	Missense_Mutation	SNP	C	C	T	rs374298885		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:58467098C>T	ENST00000357552.3	-	24	2536	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	SYCP2_ENST00000371001.2_Missense_Mutation_p.E771K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	771					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AATTCTTTCTCTGCTTTTCTA	0.333																																						uc002yaz.2		NaN																	0				ovary(3)|lung(2)	5						c.(2311-2313)GAG>AAG		synaptonemal complex protein 2		C	LYS/GLU	0,4406		0,0,2203	99.0	95.0	97.0		2311	1.9	0.0	20		97	1,8597	1.2+/-3.3	0,1,4298	no	missense	SYCP2	NM_014258.2	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	771/1531	58467098	1,13003	2203	4299	6502	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58467098C>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2311G>A	20.37:g.58467098C>T	ENSP00000350162:p.Glu771Lys						p.E771K	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		23	2450	-	all_lung(29;0.00344)		771					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.2311G>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.805340	0.00606	0.0	1.16E-4	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.17854	2.51;2.51;2.25	5.32	1.92	0.25849	.	0.876643	0.10169	N	0.707332	T	0.08088	0.0202	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.41928	-0.9481	10	0.06494	T	0.89	0.7605	6.6028	0.22710	0.0:0.6362:0.0:0.3638	.	771	Q9BX26	SYCP2_HUMAN	K	771	ENSP00000360040:E771K;ENSP00000350162:E771K;ENSP00000402456:E771K	ENSP00000350162:E771K	E	-	1	0	SYCP2	57900493	0.003000	0.15002	0.007000	0.13788	0.149000	0.21700	0.073000	0.14640	0.174000	0.19809	0.591000	0.81541	GAG		0.333	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3		NM_014258		15	35	0	0	0	1	0	15	35		
ADRM1	11047	broad.mit.edu	37	20	60878723	60878723	+	Silent	SNP	G	G	A	rs144780505		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:60878723G>A	ENST00000253003.2	+	2	145	c.99G>A	c.(97-99)ctG>ctA	p.L33L	ADRM1_ENST00000462554.1_3'UTR|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	33	Interaction with PSMD1.|PH.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AGATGTCCCTGAAGGGGACCA	0.597																																						uc002ycn.2		NaN																	0					0						c.(97-99)CTG>CTA		adhesion regulating molecule 1 precursor							77.0	82.0	80.0					20																	60878723		2203	4300	6503	SO:0001819	synonymous_variant	11047				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	g.chr20:60878723G>A	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.99G>A	20.37:g.60878723G>A						ADRM1_uc011aai.1_Silent_p.L33L|ADRM1_uc002yco.2_Silent_p.L33L|ADRM1_uc002ycp.1_5'Flank	p.L33L	NM_007002	NP_008933	Q16186	ADRM1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		2	179	+	Breast(26;7.76e-09)		33			PH.|Interaction with PSMD1.		A0PKB1|Q96FJ7|Q9H1P2	Silent	SNP	ENST00000253003.2	37	c.99G>A	CCDS13496.1																																																																																				0.597	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1				40	82	0	0	0	1	0	40	82		
DIDO1	11083	broad.mit.edu	37	20	61513083	61513083	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:61513083C>T	ENST00000266070.4	-	16	4550	c.4225G>A	c.(4225-4227)Gag>Aag	p.E1409K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1409K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1409					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)	p.E1409*(1)		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)					CTTTCCACCTCGTGGCGCCGC	0.602																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(3)	6						c.(4225-4227)GAG>AAG		death inducer-obliterator 1 isoform c							75.0	81.0	79.0					20																	61513083		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513083C>T	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.4225G>A	20.37:g.61513083C>T	ENSP00000266070:p.Glu1409Lys					DIDO1_uc002yds.1_Missense_Mutation_p.E1409K	p.E1409K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	4489	-	Breast(26;5.68e-08)		1409					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.4225G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049421	0.55218	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09723	2.95;2.95	5.67	5.67	0.87782	.	0.309842	0.22708	N	0.056604	T	0.09818	0.0241	L	0.50333	1.59	0.40496	D	0.980595	P	0.35226	0.491	B	0.20184	0.028	T	0.05131	-1.0904	10	0.52906	T	0.07	-29.0191	10.8151	0.46571	0.0:0.8859:0.0:0.1141	.	1409	Q9BTC0	DIDO1_HUMAN	K	1409	ENSP00000266070:E1409K;ENSP00000378752:E1409K	ENSP00000266070:E1409K	E	-	1	0	DIDO1	60983528	0.029000	0.19370	0.011000	0.14972	0.001000	0.01503	2.321000	0.43805	2.667000	0.90743	0.563000	0.77884	GAG		0.602	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		44	72	0	0	0	1	0	44	72		
CHRNA4	1137	broad.mit.edu	37	20	61991019	61991019	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:61991019C>T	ENST00000370263.4	-	2	330	c.109G>A	c.(109-111)Gag>Aag	p.E37K	RP11-261N11.8_ENST00000370257.1_RNA|CHRNA4_ENST00000463705.1_Intron	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	37					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)	AGCCGCTCCTCGGCGTGGGCC	0.667																																						uc002yes.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(109-111)GAG>AAG		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						61.0	61.0	61.0					20																	61991019		2193	4283	6476	SO:0001583	missense	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.chr20:61991019C>T		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.109G>A	20.37:g.61991019C>T	ENSP00000359285:p.Glu37Lys					CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	p.E37K	NM_000744	NP_000735	P43681	ACHA4_HUMAN			2	287	-	all_cancers(38;1.71e-10)		37			Extracellular (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.109G>A	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	C	35	5.577420	0.96565	.	.	ENSG00000101204	ENST00000370263	T	0.60548	0.18	4.26	4.26	0.50523	Neurotransmitter-gated ion-channel ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.80171	0.4574	M	0.93016	3.37	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	D	0.86437	0.1764	10	0.72032	D	0.01	.	16.68	0.85289	0.0:1.0:0.0:0.0	.	37	P43681	ACHA4_HUMAN	K	37	ENSP00000359285:E37K	ENSP00000359285:E37K	E	-	1	0	CHRNA4	61461463	1.000000	0.71417	0.944000	0.38274	0.925000	0.55904	4.808000	0.62583	1.929000	0.55896	0.491000	0.48974	GAG		0.667	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3				11	28	0	0	0	1	0	11	28		
STMN3	50861	broad.mit.edu	37	20	62273466	62273466	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:62273466C>G	ENST00000370053.1	-	4	559	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	STMN3_ENST00000540534.1_Missense_Mutation_p.E149Q	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	160	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)	p.E160K(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CGCACCTTCTCGCGCAGCCGC	0.756																																						uc002yfr.1		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(478-480)GAG>CAG		SCG10-like-protein							13.0	13.0	13.0					20																	62273466		2181	4279	6460	SO:0001583	missense	50861				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding	g.chr20:62273466C>G	AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.478G>C	20.37:g.62273466C>G	ENSP00000359070:p.Glu160Gln					STMN3_uc011abb.1_Missense_Mutation_p.E160Q	p.E160Q	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)		4	560	-	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		160			Potential.		B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Missense_Mutation	SNP	ENST00000370053.1	37	c.478G>C	CCDS13529.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.200670	0.79015	.	.	ENSG00000197457	ENST00000370053;ENST00000540534	.	.	.	5.27	5.27	0.74061	.	0.178523	0.34156	U	0.004207	D	0.83078	0.5176	M	0.82056	2.57	0.58432	D	0.999993	D	0.76494	0.999	D	0.81914	0.995	D	0.84481	0.0605	9	0.54805	T	0.06	-8.596	18.931	0.92566	0.0:1.0:0.0:0.0	.	160	Q9NZ72	STMN3_HUMAN	Q	160;149	.	ENSP00000359070:E160Q	E	-	1	0	STMN3	61743910	1.000000	0.71417	0.982000	0.44146	0.028000	0.11728	5.765000	0.68834	2.474000	0.83562	0.580000	0.79431	GAG		0.756	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1		NM_015894		3	15	0	0	0	1	0	3	15		
STMN3	50861	broad.mit.edu	37	20	62275132	62275132	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:62275132C>G	ENST00000370053.1	-	3	349	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	STMN3_ENST00000540534.1_Missense_Mutation_p.E79Q	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	90	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TCGGCTGCCTCCAGCCGCTTT	0.642																																						uc002yfr.1		NaN																	0					0						c.(268-270)GAG>CAG		SCG10-like-protein							39.0	43.0	42.0					20																	62275132		2203	4300	6503	SO:0001583	missense	50861				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding	g.chr20:62275132C>G	AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.268G>C	20.37:g.62275132C>G	ENSP00000359070:p.Glu90Gln					STMN3_uc011abb.1_Missense_Mutation_p.E90Q	p.E90Q	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)		3	350	-	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		90			Potential.		B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Missense_Mutation	SNP	ENST00000370053.1	37	c.268G>C	CCDS13529.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544764	0.65198	.	.	ENSG00000197457	ENST00000370053;ENST00000540534	.	.	.	5.09	5.09	0.68999	.	0.000000	0.64402	U	0.000009	D	0.82829	0.5122	M	0.82056	2.57	0.58432	D	0.999992	D	0.76494	0.999	D	0.81914	0.995	D	0.84263	0.0484	9	0.51188	T	0.08	-21.1161	18.4619	0.90741	0.0:1.0:0.0:0.0	.	90	Q9NZ72	STMN3_HUMAN	Q	90;79	.	ENSP00000359070:E90Q	E	-	1	0	STMN3	61745576	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	7.629000	0.83207	2.379000	0.81126	0.491000	0.48974	GAG		0.642	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1		NM_015894		13	36	0	0	0	1	0	13	36		
ADAMTS5	11096	broad.mit.edu	37	21	28302318	28302318	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr21:28302318C>T	ENST00000284987.5	-	7	2233	c.2112G>A	c.(2110-2112)gtG>gtA	p.V704V	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	704	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGCCAGTTCTCACACACTTCC	0.493																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(2110-2112)GTG>GTA		ADAM metallopeptidase with thrombospondin type 1							239.0	213.0	222.0					21																	28302318		2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28302318C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2112G>A	21.37:g.28302318C>T							p.V704V	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			7	2841	-			704			Cys-rich.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.2112G>A	CCDS13579.1																																																																																				0.493	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1				48	75	0	0	0	1	0	48	75		
IFNGR2	3460	broad.mit.edu	37	21	34804515	34804515	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr21:34804515C>G	ENST00000290219.6	+	5	1241	c.593C>G	c.(592-594)tCa>tGa	p.S198*	IFNGR2_ENST00000381995.1_Nonsense_Mutation_p.S217*|IFNGR2_ENST00000405436.1_Nonsense_Mutation_p.S119*	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	198	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	AACTCCATTTCATTGGATAAC	0.403																																						uc002yrp.3		NaN																	0					0						c.(592-594)TCA>TGA		interferon gamma receptor 2 precursor	Interferon gamma-1b(DB00033)						99.0	94.0	96.0					21																	34804515		2203	4300	6503	SO:0001587	stop_gained	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34804515C>G		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.593C>G	21.37:g.34804515C>G	ENSP00000290219:p.Ser198*					IFNGR2_uc002yrq.3_Nonsense_Mutation_p.S217*|IFNGR2_uc010gma.2_Nonsense_Mutation_p.S119*|IFNGR2_uc002yrr.3_Nonsense_Mutation_p.S119*	p.S198*	NM_005534	NP_005525	P38484	INGR2_HUMAN			5	1241	+			198			Extracellular (Potential).|Fibronectin type-III 2.		Q9BTL5	Nonsense_Mutation	SNP	ENST00000290219.6	37	c.593C>G	CCDS33544.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699003	0.68501	.	.	ENSG00000159128	ENST00000290219;ENST00000381995;ENST00000405436	.	.	.	4.76	-0.828	0.10799	.	2.968230	0.00718	N	0.000879	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-26.5193	2.5071	0.04647	0.4018:0.2465:0.0:0.3517	.	.	.	.	X	198;217;119	.	ENSP00000290219:S198X	S	+	2	0	IFNGR2	33726385	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.043000	0.13971	0.018000	0.15052	-0.471000	0.05019	TCA		0.403	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1				7	80	0	0	0	1	0	7	80		
CECR6	27439	broad.mit.edu	37	22	17601328	17601328	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr22:17601328C>T	ENST00000331437.3	-	1	815	c.690G>A	c.(688-690)tgG>tgA	p.W230*	CECR6_ENST00000399875.1_Intron|AC006946.15_ENST00000441544.1_5'Flank	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	230										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CAGTGGCGATCCAGGAGCACC	0.701																																						uc002zmb.2		NaN																	0					0						c.(688-690)TGG>TGA		cat eye syndrome chromosome region, candidate 6							14.0	15.0	15.0					22																	17601328		2174	4271	6445	SO:0001587	stop_gained	27439							g.chr22:17601328C>T	AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.690G>A	22.37:g.17601328C>T	ENSP00000329318:p.Trp230*					CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank	p.W230*	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN		Colorectal(9;0.221)	1	886	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	230					A8MYY1	Nonsense_Mutation	SNP	ENST00000331437.3	37	c.690G>A	CCDS13740.1	.	.	.	.	.	.	.	.	.	.	c	37	6.119392	0.97300	.	.	ENSG00000183307	ENST00000331437	.	.	.	3.36	3.36	0.38483	.	0.000000	0.56097	U	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6229	0.56614	0.0:1.0:0.0:0.0	.	.	.	.	X	230	.	ENSP00000329318:W230X	W	-	3	0	CECR6	15981328	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	3.072000	0.50049	1.615000	0.50252	0.436000	0.28706	TGG		0.701	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4		NM_031890		3	6	0	0	0	1	0	3	6		
NF2	4771	broad.mit.edu	37	22	30057257	30057257	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr22:30057257G>T	ENST00000338641.4	+	8	1180	c.739G>T	c.(739-741)Gag>Tag	p.E247*	NF2_ENST00000403435.1_Nonsense_Mutation_p.E247*|NF2_ENST00000413209.2_Intron|NF2_ENST00000361452.4_Nonsense_Mutation_p.E206*|NF2_ENST00000353887.4_Nonsense_Mutation_p.E164*|NF2_ENST00000397789.3_Nonsense_Mutation_p.E247*|NF2_ENST00000361166.4_Nonsense_Mutation_p.E247*|NF2_ENST00000361676.4_Nonsense_Mutation_p.E205*|NF2_ENST00000347330.5_Nonsense_Mutation_p.E88*|NF2_ENST00000334961.7_Nonsense_Mutation_p.E164*|NF2_ENST00000403999.3_Nonsense_Mutation_p.E247*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	247	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.L232_P257del(1)|p.E247fs*4(1)|p.N226_E270del(1)|p.D245fs*31(1)|p.E247K(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTATGACCCTGAGAACAGACT	0.502			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													uc003age.3		NaN	yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	D|Mis|N|F|S|O	neurofibromatosis type 2 gene			O		meningioma|acoustic neuroma	meningioma|acoustic neuroma|renal 		8	Unknown(3)|Deletion - In frame(2)|Substitution - Missense(1)|Complex - frameshift(1)|Deletion - Frameshift(1)	p.?(1)|p.E247fs*4(1)|p.N226_E270del(1)|p.D245fs*31(1)|p.E247K(1)|p.L127_D382del(1)|p.L140_P252del(1)	soft_tissue(4)|ovary(1)|large_intestine(1)|stomach(1)|central_nervous_system(1)	meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728						c.(739-741)GAG>TAG		neurofibromin 2 isoform 1							118.0	113.0	115.0					22																	30057257		2203	4300	6503	SO:0001587	stop_gained	4771	Neurofibromatosis_type_2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30057257G>T	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.739G>T	22.37:g.30057257G>T	ENSP00000344666:p.Glu247*					NF2_uc003afy.3_Nonsense_Mutation_p.E247*|NF2_uc003afz.3_Nonsense_Mutation_p.E164*|NF2_uc003agf.3_Nonsense_Mutation_p.E247*|NF2_uc003agb.3_Nonsense_Mutation_p.E170*|NF2_uc003agc.3_Nonsense_Mutation_p.E209*|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Nonsense_Mutation_p.E247*|NF2_uc003aga.3_Nonsense_Mutation_p.E205*|NF2_uc003agh.3_Nonsense_Mutation_p.E206*|NF2_uc003agi.3_Nonsense_Mutation_p.E164*|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Nonsense_Mutation_p.E209*	p.E247*	NM_000268	NP_000259	P35240	MERL_HUMAN			8	1182	+			247			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	ENST00000338641.4	37	c.739G>T	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	40	8.076771	0.98643	.	.	ENSG00000186575	ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.81	5.81	0.92471	.	0.245390	0.47093	D	0.000249	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0795	0.97766	0.0:0.0:1.0:0.0	.	.	.	.	X	88;247;247;206;247;247;164;164;247;205;247	.	.	E	+	1	0	NF2	28387257	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.913000	0.63341	2.747000	0.94245	0.650000	0.86243	GAG		0.502	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3		NM_000268		42	45	1	0	4.00102e-26	1	4.2383e-26	42	45		
SCUBE1	80274	broad.mit.edu	37	22	43627846	43627846	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr22:43627846C>T	ENST00000360835.4	-	8	1006	c.880G>A	c.(880-882)Gac>Aac	p.D294N	Z82214.2_ENST00000419643.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	294	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CAGAAGTGGTCGCAGCCTCCG	0.647											OREG0026615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bdt.1		NaN																	0				central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(880-882)GAC>AAC		signal peptide, CUB domain, EGF-like 1							64.0	50.0	55.0					22																	43627846		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43627846C>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.880G>A	22.37:g.43627846C>T	ENSP00000354080:p.Asp294Asn		OREG0026615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	917		p.D294N	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN			8	968	-		all_neural(38;0.0414)|Ovarian(80;0.07)	294			EGF-like 7; calcium-binding (Potential).		Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.880G>A	CCDS14048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.364021|5.364021	0.95877|0.95877	.|.	.|.	ENSG00000159307|ENSG00000159307	ENST00000360835;ENST00000434132|ENST00000449304	D|.	0.96396|.	-4.0|.	4.58|4.58	4.58|4.58	0.56647|0.56647	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59252|0.59252	0.2180|0.2180	L|L	0.39020|0.39020	1.185|1.185	0.80722|0.80722	D|D	1|1	P|.	0.43231|.	0.801|.	P|.	0.49252|.	0.604|.	T|T	0.55398|0.55398	-0.8147|-0.8147	10|5	0.54805|.	T|.	0.06|.	.|.	16.6511|16.6511	0.85189|0.85189	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	294|.	Q8IWY4|.	SCUB1_HUMAN|.	N|Q	294|147	ENSP00000354080:D294N|.	ENSP00000354080:D294N|.	D|R	-|-	1|2	0|0	SCUBE1|SCUBE1	41957790|41957790	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.931000|0.931000	0.56810|0.56810	7.411000|7.411000	0.80078|0.80078	2.531000|2.531000	0.85337|0.85337	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.647	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3		NM_173050		4	16	0	0	0	1	0	4	16		
SLC6A11	6538	broad.mit.edu	37	3	10960123	10960123	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:10960123G>A	ENST00000254488.2	+	8	1171	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	369					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	ACCCATTGCTGAGGTGGCAGA	0.567																																						uc003bvz.2		NaN																	0				skin(3)|ovary(1)	4						c.(1105-1107)GAG>AAG		solute carrier family 6 (neurotransmitter							107.0	91.0	96.0					3																	10960123		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10960123G>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1105G>A	3.37:g.10960123G>A	ENSP00000254488:p.Glu369Lys						p.E369K	NM_014229	NP_055044	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	8	1139	+			369					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1105G>A	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450953	0.63290	.	.	ENSG00000132164	ENST00000254488	T	0.74842	-0.88	4.3	4.3	0.51218	.	0.061390	0.64402	D	0.000003	T	0.74207	0.3686	L	0.60957	1.885	0.80722	D	1	B	0.23650	0.089	B	0.34242	0.178	T	0.71481	-0.4580	10	0.30078	T	0.28	.	16.7584	0.85506	0.0:0.0:1.0:0.0	.	369	P48066	S6A11_HUMAN	K	369	ENSP00000254488:E369K	ENSP00000254488:E369K	E	+	1	0	SLC6A11	10935123	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.471000	0.80985	2.120000	0.65058	0.491000	0.48974	GAG		0.567	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1		NM_014229		9	29	0	0	0	1	0	9	29		
GRIP2	80852	broad.mit.edu	37	3	14563188	14563188	+	RNA	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:14563188C>T	ENST00000273083.3	-	0	738							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AAGAGTGCCTCGTGGCTGCAC	0.672																																						uc011avi.1		NaN																	0				pancreas(1)	1						c.(964-966)GAG>AAG		glutamate receptor interacting protein 2							32.0	36.0	35.0					3																	14563188		2045	4182	6227			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14563188C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14563188C>T						GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	p.E322K	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			8	964	-			225			PDZ 2.		Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.964G>A																																																																																					0.672	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2		NM_001080423		8	11	0	0	0	1	0	8	11		
SS18L2	51188	broad.mit.edu	37	3	42632421	42632421	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:42632421G>C	ENST00000447630.1	+	2	240	c.32G>C	c.(31-33)aGg>aCg	p.R11T	SS18L2_ENST00000011691.4_Missense_Mutation_p.R11T|SEC22C_ENST00000417572.1_Intron			Q9UHA2	S18L2_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 2	11										prostate(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GACTGGCTGAGGGGCAAGGCG	0.672																																						uc003clk.1		NaN																	0					0						c.(31-33)AGG>ACG		synovial sarcoma translocation gene on							107.0	97.0	101.0					3																	42632421		2203	4300	6503	SO:0001583	missense	51188							g.chr3:42632421G>C	AF201950	CCDS2701.1	3p21	2008-07-18			ENSG00000008324	ENSG00000008324			15593	protein-coding gene	gene with protein product	"""SYT homolog 2"""	606473				11435705	Standard	NM_016305		Approved	KIAA-iso	uc003clk.1	Q9UHA2	OTTHUMG00000131794	ENST00000447630.1:c.32G>C	3.37:g.42632421G>C	ENSP00000401115:p.Arg11Thr					SEC22C_uc003cli.2_Intron	p.R11T	NM_016305	NP_057389	Q9UHA2	S18L2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	1	124	+			11					B2R5L1	Missense_Mutation	SNP	ENST00000447630.1	37	c.32G>C	CCDS2701.1	.	.	.	.	.	.	.	.	.	.	g	25.0	4.593213	0.86953	.	.	ENSG00000008324	ENST00000447630;ENST00000011691	.	.	.	6.05	4.23	0.50019	.	0.299987	0.36555	N	0.002535	T	0.35364	0.0929	.	.	.	0.30741	N	0.746141	P	0.43231	0.801	B	0.41374	0.355	T	0.43294	-0.9400	8	0.59425	D	0.04	.	7.4208	0.27071	0.0869:0.0:0.7496:0.1636	.	11	Q9UHA2	S18L2_HUMAN	T	11	.	ENSP00000011691:R11T	R	+	2	0	SS18L2	42607425	1.000000	0.71417	0.935000	0.37517	0.980000	0.70556	3.968000	0.56809	0.858000	0.35431	-0.132000	0.14878	AGG		0.672	SS18L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254730.2		NM_016305		12	49	0	0	0	1	0	12	49		
NKTR	4820	broad.mit.edu	37	3	42680599	42680599	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:42680599G>C	ENST00000232978.8	+	13	3591	c.3403G>C	c.(3403-3405)Gat>Cat	p.D1135H	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1135					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTGCACTCCTGATAGGAGTTC	0.448																																						uc003clo.2		NaN																	0				ovary(2)|skin(1)	3						c.(3403-3405)GAT>CAT		natural killer-tumor recognition sequence							85.0	86.0	85.0					3																	42680599		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680599G>C		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3403G>C	3.37:g.42680599G>C	ENSP00000232978:p.Asp1135His					NKTR_uc003clm.1_Missense_Mutation_p.D882H|NKTR_uc003clp.2_Missense_Mutation_p.D882H|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.D1025H|NKTR_uc003clr.1_Missense_Mutation_p.D882H|NKTR_uc003cls.2_Missense_Mutation_p.D835H	p.D1135H	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3550	+			1135						Missense_Mutation	SNP	ENST00000232978.8	37	c.3403G>C	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053607	0.55218	.	.	ENSG00000114857	ENST00000232978	D	0.83075	-1.68	5.05	5.05	0.67936	.	0.418104	0.27906	N	0.017372	D	0.92057	0.7483	M	0.85373	2.75	0.80722	D	1	D;P	0.89917	1.0;0.926	D;P	0.73380	0.98;0.456	D	0.93211	0.6600	10	0.87932	D	0	-2.3293	18.7626	0.91858	0.0:0.0:1.0:0.0	.	835;1135	Q6M1B8;P30414	.;NKTR_HUMAN	H	1135	ENSP00000232978:D1135H	ENSP00000232978:D1135H	D	+	1	0	NKTR	42655603	1.000000	0.71417	0.916000	0.36221	0.483000	0.33249	7.118000	0.77137	2.499000	0.84300	0.557000	0.71058	GAT		0.448	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2		NM_005385		26	55	0	0	0	1	0	26	55		
KLHL40	131377	broad.mit.edu	37	3	42727254	42727254	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:42727254C>T	ENST00000287777.4	+	1	244	c.144C>T	c.(142-144)cgC>cgT	p.R48R		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	48	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CGTGCCATCGCCTGGTGCTGG	0.692																																						uc003clv.1		NaN																	0				ovary(1)	1						c.(142-144)CGC>CGT		kelch repeat and BTB (POZ) domain containing 5							28.0	25.0	26.0					3																	42727254		2202	4298	6500	SO:0001819	synonymous_variant	131377							g.chr3:42727254C>T	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.144C>T	3.37:g.42727254C>T							p.R48R	NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	1	244	+			48			BTB.		Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	37	c.144C>T	CCDS2703.1																																																																																				0.692	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1		NM_152393		7	28	0	0	0	1	0	7	28		
ZNF445	353274	broad.mit.edu	37	3	44497005	44497005	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:44497005G>C	ENST00000396077.2	-	3	384	c.37C>G	c.(37-39)Cag>Gag	p.Q13E	ZNF445_ENST00000425708.2_Missense_Mutation_p.Q13E	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	13					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GACTGGGCCTGAGCTGGATAG	0.567																																						uc003cnf.2		NaN																	0				ovary(1)	1						c.(37-39)CAG>GAG		zinc finger protein 445							53.0	51.0	52.0					3																	44497005		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44497005G>C	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.37C>G	3.37:g.44497005G>C	ENSP00000379387:p.Gln13Glu					ZNF445_uc011azv.1_Missense_Mutation_p.Q13E|ZNF445_uc011azw.1_Missense_Mutation_p.Q13E	p.Q13E	NM_181489	NP_852466	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	3	385	-			13					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.37C>G	CCDS2713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.86|10.86	1.468673|1.468673	0.26335|0.26335	.|.	.|.	ENSG00000185219|ENSG00000185219	ENST00000425708;ENST00000396077|ENST00000340674;ENST00000430301	T;T|.	0.05382|.	3.45;3.45|.	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	0.495059|.	0.15262|.	N|.	0.271720|.	T|.	0.31702|.	0.0805|.	N|N	0.08118|0.08118	0|0	0.29610|0.29610	N|N	0.846993|0.846993	D;D|.	0.53151|.	0.958;0.958|.	P;P|.	0.51550|.	0.673;0.582|.	T|.	0.35201|.	-0.9798|.	10|.	0.49607|0.72032	T|D	0.09|0.01	.|.	13.8403|13.8403	0.63435|0.63435	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	13;13|.	B7ZKX2;P59923|.	.;ZN445_HUMAN|.	E|X	13|11;12	ENSP00000413073:Q13E;ENSP00000379387:Q13E|.	ENSP00000379387:Q13E|ENSP00000342436:S11X	Q|S	-|-	1|2	0|0	ZNF445|ZNF445	44472009|44472009	0.980000|0.980000	0.34600|0.34600	0.650000|0.650000	0.29550|0.29550	0.078000|0.078000	0.17371|0.17371	3.312000|3.312000	0.51927|0.51927	2.536000|2.536000	0.85505|0.85505	0.563000|0.563000	0.77884|0.77884	CAG|TCA		0.567	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2		NM_181489		5	44	0	0	0	1	0	5	44		
ZNF197	10168	broad.mit.edu	37	3	44683588	44683588	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:44683588G>A	ENST00000396058.1	+	5	1133	c.966G>A	c.(964-966)aaG>aaA	p.K322K	ZNF197_ENST00000383745.2_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Silent_p.K322K			O14709	ZN197_HUMAN	zinc finger protein 197	322					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(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ATACAGTGAAGAAAGTTTCCC	0.443																																						uc003cnm.2		NaN																	0				ovary(3)|skin(1)	4						c.(964-966)AAG>AAA		zinc finger protein 197 isoform 1							66.0	66.0	66.0					3																	44683588		2203	4300	6503	SO:0001819	synonymous_variant	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44683588G>A	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.966G>A	3.37:g.44683588G>A						ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	p.K322K	NM_006991	NP_008922	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	6	1172	+			322					B2RAH8|Q86VG0	Silent	SNP	ENST00000396058.1	37	c.966G>A	CCDS2717.1																																																																																				0.443	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4		NM_006991		21	43	0	0	0	1	0	21	43		
KLHL18	23276	broad.mit.edu	37	3	47385224	47385224	+	Silent	SNP	G	G	C	rs535735537		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:47385224G>C	ENST00000232766.5	+	10	1538	c.1518G>C	c.(1516-1518)ctG>ctC	p.L506L	KLHL18_ENST00000455924.2_Silent_p.L394L	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	506										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		AGTGGTGCCTGATTGTCCCCA	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19881	0.0		0.0	False		,,,				2504	0.0					uc003crd.2		NaN																	0					0						c.(1516-1518)CTG>CTC		kelch-like 18							83.0	82.0	82.0					3																	47385224		2203	4300	6503	SO:0001819	synonymous_variant	23276							g.chr3:47385224G>C	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1518G>C	3.37:g.47385224G>C						KLHL18_uc011bav.1_Silent_p.L394L	p.L506L	NM_025010	NP_079286	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	10	1644	+		Acute lymphoblastic leukemia(5;0.164)	506			Kelch 5.		A8K612|Q7Z3E8|Q8N125	Silent	SNP	ENST00000232766.5	37	c.1518G>C	CCDS33749.1																																																																																				0.622	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1		NM_025010		21	70	0	0	0	1	0	21	70		
SLC26A6	65010	broad.mit.edu	37	3	48665891	48665891	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:48665891C>T	ENST00000395550.2	-	16	1823	c.1776G>A	c.(1774-1776)caG>caA	p.Q592Q	SLC26A6_ENST00000383733.3_Silent_p.Q592Q|SLC26A6_ENST00000337000.8_Silent_p.Q485Q|SLC26A6_ENST00000358747.6_Silent_p.Q571Q|SLC26A6_ENST00000420764.2_Silent_p.Q592Q|SLC26A6_ENST00000455886.2_Silent_p.Q556Q			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	592	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TCTCCTCTTTCTGCAGTTGCT	0.572																																					NSCLC(13;369 479 28271 30152 44026)	uc003cuf.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(11989-11991)CAG>CAA		cadherin EGF LAG seven-pass G-type receptor 3							111.0	119.0	116.0					3																	48665891		1996	4169	6165	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48665891C>T	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1776G>A	3.37:g.48665891C>T						SLC26A6_uc003cug.2_Silent_p.Q571Q|SLC26A6_uc003cuh.2_Silent_p.Q592Q|SLC26A6_uc010hke.2_Silent_p.Q443Q|SLC26A6_uc003cuk.2_Silent_p.Q485Q|SLC26A6_uc003cui.2_Silent_p.Q592Q|SLC26A6_uc003cuj.2_Silent_p.Q592Q|SLC26A6_uc011bbp.1_Silent_p.Q556Q	p.Q3997Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	52	11991	-			Error:Variant_position_missing_in_Q9NYQ7_after_alignment					B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Silent	SNP	ENST00000395550.2	37	c.11991G>A	CCDS43087.1																																																																																				0.572	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1		NM_022911		38	96	0	0	0	1	0	38	96		
RHOA	387	broad.mit.edu	37	3	49397643	49397643	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:49397643C>T	ENST00000418115.1	-	5	965	c.581G>A	c.(580-582)tGa>tAa	p.*194*	RHOA_ENST00000454011.2_3'UTR|RHOA_ENST00000422781.1_3'UTR|GPX1_ENST00000496791.1_5'Flank|GPX1_ENST00000419349.1_5'Flank|GPX1_ENST00000419783.1_5'Flank	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	0					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGCAAGGTTTCACAAGACAAG	0.403																																						uc003cwu.2		NaN																	0				ovary(2)	2						c.(580-582)TGA>TAA		ras homolog gene family, member A precursor	Atorvastatin(DB01076)|Simvastatin(DB00641)						312.0	271.0	285.0					3																	49397643		2203	4300	6503	SO:0001819	synonymous_variant	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49397643C>T	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.581G>A	3.37:g.49397643C>T						RHOA_uc010hku.2_Silent_p.*113*|GPX1_uc011bcl.1_5'Flank|GPX1_uc011bcm.1_5'Flank	p.*194*	NM_001664	NP_001655	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	5	857	-			194					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Silent	SNP	ENST00000418115.1	37	c.581G>A	CCDS2795.1																																																																																				0.403	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3		NM_001664		36	92	0	0	0	1	0	36	92		
RHOA	387	broad.mit.edu	37	3	49397721	49397721	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:49397721C>G	ENST00000418115.1	-	5	887	c.503G>C	c.(502-504)aGa>aCa	p.R168T	RHOA_ENST00000454011.2_3'UTR|RHOA_ENST00000422781.1_3'UTR|GPX1_ENST00000496791.1_5'Flank|GPX1_ENST00000419349.1_5'Flank|GPX1_ENST00000419783.1_5'Flank	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	168					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AAAAACCTCTCTCACTCCATC	0.493																																						uc003cwu.2		NaN																	0				ovary(2)	2						c.(502-504)AGA>ACA		ras homolog gene family, member A precursor	Atorvastatin(DB01076)|Simvastatin(DB00641)						363.0	297.0	319.0					3																	49397721		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49397721C>G	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.503G>C	3.37:g.49397721C>G	ENSP00000400175:p.Arg168Thr					RHOA_uc010hku.2_Missense_Mutation_p.R87T|GPX1_uc011bcl.1_5'Flank|GPX1_uc011bcm.1_5'Flank	p.R168T	NM_001664	NP_001655	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	5	779	-			168					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.503G>C	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874587	0.91664	.	.	ENSG00000067560	ENST00000418115	T	0.76578	-1.03	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.80974	0.4727	N	0.25825	0.765	0.80722	D	1	P	0.47350	0.894	P	0.58130	0.833	T	0.82168	-0.0591	10	0.87932	D	0	.	19.1349	0.93424	0.0:1.0:0.0:0.0	.	168	P61586	RHOA_HUMAN	T	168	ENSP00000400175:R168T	ENSP00000400175:R168T	R	-	2	0	RHOA	49372725	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.792000	0.85828	2.861000	0.98227	0.655000	0.94253	AGA		0.493	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3		NM_001664		40	104	0	0	0	1	0	40	104		
PCBP4	57060	broad.mit.edu	37	3	51994209	51994209	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:51994209C>T	ENST00000461554.1	-	7	714	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	PCBP4_ENST00000428823.2_Missense_Mutation_p.R128Q|PCBP4_ENST00000395014.2_Missense_Mutation_p.R94Q|PCBP4_ENST00000484633.1_Missense_Mutation_p.R128Q|PCBP4_ENST00000471622.1_Missense_Mutation_p.R128Q|PCBP4_ENST00000395013.3_Missense_Mutation_p.R51Q|PCBP4_ENST00000322099.7_Missense_Mutation_p.R128Q|RP11-155D18.12_ENST00000488257.1_RNA|PCBP4_ENST00000355852.2_Missense_Mutation_p.R128Q	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	128	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTCACCTCTCGGATCTCCTT	0.592																																						uc003dcd.1		NaN																	0					0						c.(382-384)CGA>CAA		poly(rC) binding protein 4 isoform c							77.0	71.0	73.0					3																	51994209		2203	4300	6503	SO:0001583	missense	57060					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	g.chr3:51994209C>T	AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"""RNA binding protein MCG10"", ""LYST-interacting protein"", ""alphaCP-4 protein"""	608503	"""poly(rC)-binding protein 4"""			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.383G>A	3.37:g.51994209C>T	ENSP00000417196:p.Arg128Gln					PCBP4_uc003dcb.1_Missense_Mutation_p.R94Q|PCBP4_uc003dcc.1_Missense_Mutation_p.R94Q|PCBP4_uc003dce.1_Missense_Mutation_p.R128Q|PCBP4_uc003dcf.1_Missense_Mutation_p.R128Q|PCBP4_uc003dcg.1_Missense_Mutation_p.R94Q|PCBP4_uc003dch.1_Missense_Mutation_p.R128Q|PCBP4_uc003dci.1_Missense_Mutation_p.R51Q|PCBP4_uc003dcj.1_Missense_Mutation_p.R128Q|PCBP4_uc003dck.1_Missense_Mutation_p.R128Q|PCBP4_uc003dcl.1_Missense_Mutation_p.R128Q	p.R128Q	NM_033010	NP_127503	P57723	PCBP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	779	-			128			KH 2.		Q96AH7	Missense_Mutation	SNP	ENST00000461554.1	37	c.383G>A	CCDS2839.1	.	.	.	.	.	.	.	.	.	.	C	36	5.773785	0.96922	.	.	ENSG00000090097	ENST00000355852;ENST00000322099;ENST00000461554;ENST00000484633;ENST00000395013;ENST00000428823;ENST00000395014;ENST00000471622;ENST00000294192;ENST00000468324	T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	4.96	4.96	0.65561	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.063508	0.64402	D	0.000009	T	0.47746	0.1462	L	0.48174	1.505	0.26161	N	0.980007	D;D;B;D;D;D;D	0.89917	0.995;0.998;0.028;0.999;0.999;1.0;1.0	P;D;B;D;D;D;D	0.97110	0.754;0.983;0.017;0.99;0.99;0.997;1.0	T	0.41787	-0.9489	10	0.17369	T	0.5	-7.0542	17.8155	0.88632	0.0:1.0:0.0:0.0	.	128;128;51;128;128;94;94	C9J0A4;P57723-2;B3KM64;E7EST1;P57723;Q9GZT1;Q9HCU2	.;.;.;.;PCBP4_HUMAN;.;.	Q	128;128;128;128;51;128;94;128;128;128	ENSP00000348111:R128Q;ENSP00000322341:R128Q;ENSP00000417196:R128Q;ENSP00000417100:R128Q;ENSP00000378460:R51Q;ENSP00000395030:R128Q;ENSP00000378461:R94Q;ENSP00000418925:R128Q;ENSP00000419694:R128Q	ENSP00000294192:R128Q	R	-	2	0	PCBP4	51969249	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.751000	0.85126	2.281000	0.76405	0.563000	0.77884	CGA		0.592	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1		NM_020418		15	56	0	0	0	1	0	15	56		
PBRM1	55193	broad.mit.edu	37	3	52692314	52692314	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:52692314C>G	ENST00000296302.7	-	5	547	c.546G>C	c.(544-546)ttG>ttC	p.L182F	PBRM1_ENST00000337303.4_Missense_Mutation_p.L182F|PBRM1_ENST00000394830.3_Missense_Mutation_p.L182F|PBRM1_ENST00000409057.1_Missense_Mutation_p.L182F|PBRM1_ENST00000410007.1_Missense_Mutation_p.L182F|PBRM1_ENST00000356770.4_Missense_Mutation_p.L182F|PBRM1_ENST00000409114.3_Missense_Mutation_p.L182F|PBRM1_ENST00000409767.1_Missense_Mutation_p.L182F			Q86U86	PB1_HUMAN	polybromo 1	182					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGATCTCCTTCAAGTAAGCTG	0.373			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NaN		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(544-546)TTG>TTC		polybromo 1 isoform 4							69.0	65.0	66.0					3																	52692314		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52692314C>G	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.546G>C	3.37:g.52692314C>G	ENSP00000296302:p.Leu182Phe					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.L182F|PBRM1_uc003der.2_Missense_Mutation_p.L182F|PBRM1_uc003det.2_Missense_Mutation_p.L182F|PBRM1_uc003deu.2_Missense_Mutation_p.L182F|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.L182F|PBRM1_uc010hmk.1_Missense_Mutation_p.L182F|PBRM1_uc003dey.2_Missense_Mutation_p.L182F|PBRM1_uc003dez.1_Missense_Mutation_p.L182F|PBRM1_uc003dfb.1_Missense_Mutation_p.L80F	p.L182F	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	5	558	-			182					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.546G>C		.	.	.	.	.	.	.	.	.	.	C	15.56	2.869831	0.51588	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678	T;T;T;T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.21	4.34	0.51931	Bromodomain (2);	0.000000	0.64402	D	0.000001	T	0.30916	0.0780	L	0.34521	1.04	0.51767	D	0.999937	D;D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.998;0.999;0.997;0.999;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.997;0.97;0.997;0.997;0.994;0.999;0.927;0.997;0.997	T	0.02909	-1.1095	10	0.20519	T	0.43	-8.9982	11.0148	0.47682	0.0:0.8498:0.0:0.1502	.	182;182;182;182;182;182;182;182;182	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	F	182;182;182;182;182;182;182;182;182;126;182	ENSP00000349213:L182F;ENSP00000378307:L182F;ENSP00000296302:L182F;ENSP00000338302:L182F;ENSP00000386593:L182F;ENSP00000386529:L182F;ENSP00000386643:L182F;ENSP00000386601:L182F;ENSP00000387775:L182F;ENSP00000397662:L126F;ENSP00000409939:L182F	ENSP00000296302:L182F	L	-	3	2	PBRM1	52667354	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	1.295000	0.33377	1.212000	0.43366	-0.151000	0.13558	TTG		0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165		4	51	0	0	0	1	0	4	51		
ITIH4	3700	broad.mit.edu	37	3	52858879	52858879	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:52858879C>T	ENST00000266041.4	-	7	951	c.855G>A	c.(853-855)atG>atA	p.M285I	ITIH4_ENST00000434759.3_Missense_Mutation_p.M197I|ITIH4_ENST00000467462.1_5'Flank|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000346281.5_Missense_Mutation_p.M285I|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Missense_Mutation_p.M285I|ITIH4_ENST00000406595.1_Missense_Mutation_p.M285I	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	285	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCCTGCCACTCATGGAGCCGC	0.572																																						uc003dfz.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(853-855)ATG>ATA		inter-alpha (globulin) inhibitor H4							105.0	101.0	102.0					3																	52858879		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52858879C>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.855G>A	3.37:g.52858879C>T	ENSP00000266041:p.Met285Ile					ITIH4_uc011bel.1_Missense_Mutation_p.M15I|ITIH4_uc003dfy.2_Missense_Mutation_p.M149I|ITIH4_uc011bem.1_Missense_Mutation_p.M285I|ITIH4_uc011ben.1_Missense_Mutation_p.M285I	p.M285I	NM_002218	NP_002209	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	7	891	-			285			VWFA.		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.855G>A	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.346261|5.346261	0.95807|0.95807	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000441637|ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759	.|D;D;D;D;D	.|0.81659	.|-1.52;-1.52;-1.52;-1.52;-1.52	5.6|5.6	5.6|5.6	0.85130|0.85130	.|von Willebrand factor, type A (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94318|0.94318	0.8174|0.8174	H|H	0.98594|0.98594	4.275|4.275	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	.|0.97110	.|0.999;0.999;0.999;1.0	D|D	0.96235|0.96235	0.9171|0.9171	5|10	.|0.87932	.|D	.|0	-44.5017|-44.5017	19.2127|19.2127	0.93763|0.93763	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|285;285;285;285	.|E9PGN5;B7ZKJ8;Q14624;Q14624-2	.|.;.;ITIH4_HUMAN;.	K|I	143|285;285;285;285;273;197	.|ENSP00000266041:M285I;ENSP00000340520:M285I;ENSP00000417824:M285I;ENSP00000384425:M285I;ENSP00000440036:M197I	.|ENSP00000266041:M285I	E|M	-|-	1|3	0|0	ITIH4|ITIH4	52833919|52833919	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.973000|0.973000	0.67179|0.67179	7.719000|7.719000	0.84751|0.84751	2.653000|2.653000	0.90120|0.90120	0.561000|0.561000	0.74099|0.74099	GAG|ATG		0.572	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1		NM_002218		37	71	0	0	0	1	0	37	71		
PRKCD	5580	broad.mit.edu	37	3	53215603	53215603	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:53215603G>T	ENST00000394729.2	+	5	848	c.520G>T	c.(520-522)Gtg>Ttg	p.V174L	PRKCD_ENST00000330452.3_Missense_Mutation_p.V174L	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	174					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	CTTCTGTTCTGTGTGCAAAGA	0.567																																						uc003dgl.2		NaN																	0				central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(520-522)GTG>TTG		protein kinase C, delta							143.0	141.0	142.0					3																	53215603		2203	4300	6503	SO:0001583	missense	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53215603G>T		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.520G>T	3.37:g.53215603G>T	ENSP00000378217:p.Val174Leu					PRKCD_uc003dgm.2_Missense_Mutation_p.V174L|PRKCD_uc003dgn.2_Missense_Mutation_p.V174L|PRKCD_uc010hmt.1_5'Flank	p.V174L	NM_006254	NP_006245	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	6	873	+		Ovarian(412;0.0728)	174			Phorbol-ester/DAG-type 1.		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	c.520G>T	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	g	16.66	3.185624	0.57909	.	.	ENSG00000163932	ENST00000394729;ENST00000330452;ENST00000464818	T;T;T	0.81163	-1.46;-1.46;-1.46	5.57	5.57	0.84162	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.82930	0.5144	L	0.37630	1.12	0.80722	D	1	D;P	0.76494	0.999;0.949	D;P	0.73708	0.981;0.771	T	0.76077	-0.3091	10	0.02654	T	1	.	18.3312	0.90270	0.0:0.0:1.0:0.0	.	174;174	C9K0E3;Q05655	.;KPCD_HUMAN	L	174	ENSP00000378217:V174L;ENSP00000331602:V174L;ENSP00000419629:V174L	ENSP00000331602:V174L	V	+	1	0	PRKCD	53190643	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	9.866000	0.99616	2.634000	0.89283	0.651000	0.88453	GTG		0.567	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1				19	59	1	0	5.3912e-06	1	5.48653e-06	19	59		
DCBLD2	131566	broad.mit.edu	37	3	98538214	98538214	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:98538214G>A	ENST00000326840.6	-	8	1281	c.919C>T	c.(919-921)Caa>Taa	p.Q307*	DCBLD2_ENST00000326857.9_Nonsense_Mutation_p.Q307*|DCBLD2_ENST00000469648.1_5'Flank	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	307	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GCTGTTATTTGAGGATCCGCG	0.448																																						uc003dtd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(919-921)CAA>TAA		discoidin, CUB and LCCL domain containing 2							100.0	88.0	92.0					3																	98538214		1931	4136	6067	SO:0001587	stop_gained	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98538214G>A		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.919C>T	3.37:g.98538214G>A	ENSP00000321573:p.Gln307*					DCBLD2_uc003dte.2_Nonsense_Mutation_p.Q307*	p.Q307*	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN			8	1282	-			307			Extracellular (Potential).|F5/8 type C.		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Nonsense_Mutation	SNP	ENST00000326840.6	37	c.919C>T	CCDS46878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.516035|6.516035	0.97629|0.97629	.|.	.|.	ENSG00000057019|ENSG00000057019	ENST00000326840;ENST00000326857|ENST00000404023	.|.	.|.	.|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.53738	.|0.1815	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50013	.|-0.8877	.|4	0.56958|0.11182	D|T	0.05|0.66	-14.1918|-14.1918	16.6977|16.6977	0.85340|0.85340	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	307|261	.|.	ENSP00000321573:Q307X|ENSP00000385656:S261L	Q|S	-|-	1|2	0|0	DCBLD2|DCBLD2	100020904|100020904	1.000000|1.000000	0.71417|0.71417	0.468000|0.468000	0.27192|0.27192	0.956000|0.956000	0.61745|0.61745	9.070000|9.070000	0.93974|0.93974	2.616000|2.616000	0.88540|0.88540	0.585000|0.585000	0.79938|0.79938	CAA|TCA		0.448	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2		NM_080927		14	21	0	0	0	1	0	14	21		
CEP97	79598	broad.mit.edu	37	3	101476575	101476575	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:101476575G>A	ENST00000341893.3	+	9	1877	c.1125G>A	c.(1123-1125)acG>acA	p.T375T	CEP97_ENST00000494050.1_Intron|CEP97_ENST00000327230.4_Silent_p.T375T			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	375	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TACACACTACGAGATATTCTC	0.398																																						uc003dvk.1		NaN																	0				ovary(2)	2						c.(1123-1125)ACG>ACA		centrosomal protein 97kDa							103.0	92.0	96.0					3																	101476575		2203	4300	6503	SO:0001819	synonymous_variant	79598					centrosome|nucleus	protein binding	g.chr3:101476575G>A	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1125G>A	3.37:g.101476575G>A						CEP97_uc010hpm.1_Silent_p.T341T|CEP97_uc011bhf.1_Intron|CEP97_uc003dvl.1_Silent_p.T71T|CEP97_uc003dvm.1_Silent_p.T213T	p.T375T	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			9	1152	+			375			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	ENST00000341893.3	37	c.1125G>A	CCDS2944.1																																																																																				0.398	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2		NM_024548		21	62	0	0	0	1	0	21	62		
CFAP44	55779	broad.mit.edu	37	3	113098284	113098284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:113098284G>A	ENST00000295868.2	-	17	2329	c.2167C>T	c.(2167-2169)Cag>Tag	p.Q723*	WDR52_ENST00000475568.1_5'Flank|WDR52_ENST00000393845.2_Nonsense_Mutation_p.Q723*	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						tcctcctcctGAAATTCTTTT	0.453																																						uc003eae.1		NaN																	0				central_nervous_system(1)	1						c.(2167-2169)CAG>TAG		WD repeat domain 52 isoform 2							105.0	104.0	104.0					3																	113098284		2203	4300	6503	SO:0001587	stop_gained	55779							g.chr3:113098284G>A																												ENST00000295868.2:c.2167C>T	3.37:g.113098284G>A	ENSP00000295868:p.Gln723*						p.Q723*	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			17	2213	-			723			Glu-rich.			Nonsense_Mutation	SNP	ENST00000295868.2	37	c.2167C>T	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036274	0.75617	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	.	.	.	5.08	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	10.0699	0.42325	0.0:0.1349:0.6772:0.1878	.	.	.	.	X	723	.	ENSP00000295868:Q723X	Q	-	1	0	WDR52	114580974	0.000000	0.05858	0.001000	0.08648	0.180000	0.23129	0.265000	0.18515	1.187000	0.43000	0.563000	0.77884	CAG		0.453	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3				29	72	0	0	0	1	0	29	72		
IGSF11	152404	broad.mit.edu	37	3	118647366	118647366	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:118647366G>A	ENST00000393775.2	-	3	719	c.414C>T	c.(412-414)ctC>ctT	p.L138L	IGSF11_ENST00000354673.2_Silent_p.L137L|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000491903.1_Silent_p.L138L|IGSF11_ENST00000425327.2_Silent_p.L137L|IGSF11_ENST00000441144.2_Silent_p.L137L|IGSF11_ENST00000489689.1_Silent_p.L138L	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	138					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L137L(1)|p.L138L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTAACACTGTGAGACCGGTGA	0.493																																						uc003ebw.2		NaN																	2	Substitution - coding silent(2)		lung(2)		0						c.(412-414)CTC>CTT		immunoglobulin superfamily, member 11 isoform b							130.0	115.0	120.0					3																	118647366		2203	4300	6503	SO:0001819	synonymous_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118647366G>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.414C>T	3.37:g.118647366G>A						IGSF11_uc011biv.1_Silent_p.L138L|IGSF11_uc003ebx.2_Silent_p.L138L|IGSF11_uc003eby.2_Silent_p.L137L|IGSF11_uc003ebz.2_Silent_p.L137L|IGSF11_uc010hqs.2_Silent_p.L137L	p.L138L	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			3	661	-			138			Extracellular (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	ENST00000393775.2	37	c.414C>T	CCDS46891.1																																																																																				0.493	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2				12	42	0	0	0	1	0	12	42		
GOLGB1	2804	broad.mit.edu	37	3	121414111	121414111	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:121414111C>T	ENST00000340645.5	-	13	5369	c.5244G>A	c.(5242-5244)gaG>gaA	p.E1748E	GOLGB1_ENST00000393667.3_Silent_p.E1753E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1748					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GAGAGTCTTTCTCAGACATTA	0.378																																						uc003eei.3		NaN																	0				ovary(6)|breast(2)|skin(2)	10						c.(5242-5244)GAG>GAA		golgi autoantigen, golgin subfamily b,							129.0	126.0	127.0					3																	121414111		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414111C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5244G>A	3.37:g.121414111C>T						GOLGB1_uc010hrc.2_Silent_p.E1753E|GOLGB1_uc003eej.3_Silent_p.E1714E|GOLGB1_uc011bjm.1_Silent_p.E1634E|GOLGB1_uc010hrd.1_Silent_p.E1712E	p.E1748E	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	5370	-			1748			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.5244G>A	CCDS3004.1																																																																																				0.378	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		42	99	0	0	0	1	0	42	99		
ALG1L	200810	broad.mit.edu	37	3	125649405	125649405	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:125649405G>C	ENST00000340333.3	-	5	506	c.343C>G	c.(343-345)Ctg>Gtg	p.L115V	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	115							transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						GCTACCTGCAGAGCTGCCAGT	0.582																																						uc003eig.1		NaN																	0					0						c.(343-345)CTG>GTG		asparagine-linked glycosylation 1-like							61.0	57.0	58.0					3																	125649405		1374	2332	3706	SO:0001583	missense	200810						transferase activity, transferring glycosyl groups	g.chr3:125649405G>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.343C>G	3.37:g.125649405G>C	ENSP00000340009:p.Leu115Val						p.L115V	NM_001015050	NP_001015050	Q6GMV1	ALG1L_HUMAN			5	507	-			115					D3DNA5	Missense_Mutation	SNP	ENST00000340333.3	37	c.343C>G	CCDS33840.1	.	.	.	.	.	.	.	.	.	.	.	14.24	2.475081	0.43942	.	.	ENSG00000189366	ENST00000340333	T	0.72942	-0.7	2.11	2.11	0.27256	.	0.073730	0.53938	D	0.000045	T	0.81004	0.4733	M	0.83774	2.66	0.58432	D	0.999991	D	0.65815	0.995	D	0.68353	0.957	T	0.80600	-0.1310	10	0.56958	D	0.05	-9.0737	7.7121	0.28684	0.0:0.0:1.0:0.0	.	115	Q6GMV1	ALG1L_HUMAN	V	115	ENSP00000340009:L115V	ENSP00000340009:L115V	L	-	1	2	ALG1L	127132095	0.996000	0.38824	0.709000	0.30452	0.280000	0.26924	3.811000	0.55620	1.182000	0.42928	0.162000	0.16502	CTG		0.582	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1		NM_001015050		17	33	0	0	0	1	0	17	33		
TMCC1	23023	broad.mit.edu	37	3	129373852	129373852	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:129373852T>A	ENST00000393238.3	-	5	1946	c.1606A>T	c.(1606-1608)Aaa>Taa	p.K536*	TMCC1_ENST00000426664.2_Nonsense_Mutation_p.K422*|TMCC1_ENST00000432054.2_Nonsense_Mutation_p.K212*|TMCC1_ENST00000329333.5_Nonsense_Mutation_p.K357*	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	536						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TACGCGATTTTTTCTTCCATG	0.423																																						uc003emz.3		NaN																	0				skin(1)	1						c.(1606-1608)AAA>TAA		transmembrane and coiled-coil domain family 1							153.0	151.0	152.0					3																	129373852		2203	4300	6503	SO:0001587	stop_gained	23023					integral to membrane		g.chr3:129373852T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1606A>T	3.37:g.129373852T>A	ENSP00000376930:p.Lys536*					TMCC1_uc003emy.3_Nonsense_Mutation_p.K212*|TMCC1_uc011blc.1_Nonsense_Mutation_p.K357*|TMCC1_uc010htg.2_Nonsense_Mutation_p.K422*	p.K536*	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN			6	2107	-			536			Potential.		A8K5Y3|B4DE04|Q68E06|Q8IXM8	Nonsense_Mutation	SNP	ENST00000393238.3	37	c.1606A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	37	6.032039	0.97221	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333;ENST00000510323	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.7927	16.4221	0.83766	0.0:0.0:0.0:1.0	.	.	.	.	X	212;536;422;357;4	.	ENSP00000327349:K357X	K	-	1	0	TMCC1	130856542	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.035000	0.88872	2.283000	0.76528	0.477000	0.44152	AAA		0.423	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2		NM_015008		23	70	0	0	0	1	0	23	70		
WWTR1	25937	broad.mit.edu	37	3	149260194	149260194	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:149260194C>G	ENST00000465804.1	-	5	955	c.699G>C	c.(697-699)caG>caC	p.Q233H	WWTR1_ENST00000360632.3_Missense_Mutation_p.Q233H|WWTR1_ENST00000467467.1_Missense_Mutation_p.Q233H	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCT	0.577			T	CAMTA1	epitheliod hemangioendothelioma																																	uc003exe.2		NaN		Dom	yes		3	3q23-q24	607392		WW domain containing transcription regulator 1			M					0				breast(3)|skin(1)	4						c.(697-699)CAG>CAC		WW domain containing transcription regulator 1							102.0	95.0	98.0					3																	149260194		2203	4300	6503	SO:0001583	missense	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194C>G	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.699G>C	3.37:g.149260194C>G	ENSP00000419465:p.Gln233His					WWTR1_uc003exf.2_Missense_Mutation_p.Q233H|WWTR1_uc011bns.1_Missense_Mutation_p.Q233H|WWTR1_uc003exh.2_Missense_Mutation_p.Q233H	p.Q233H	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		3	715	-			233			Potential.|Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	c.699G>C	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254622	0.59212	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	T;T;T	0.52983	0.64;0.64;0.64	5.26	3.49	0.39957	.	0.182978	0.45361	D	0.000367	T	0.61502	0.2352	M	0.79926	2.475	0.44834	D	0.997846	D	0.56968	0.978	P	0.54664	0.758	T	0.66280	-0.5963	10	0.72032	D	0.01	-20.6741	11.525	0.50573	0.0:0.8566:0.0:0.1434	.	233	Q9GZV5	WWTR1_HUMAN	H	233;233;233;91	ENSP00000419465:Q233H;ENSP00000353847:Q233H;ENSP00000419234:Q233H	ENSP00000353847:Q233H	Q	-	3	2	WWTR1	150742884	1.000000	0.71417	0.998000	0.56505	0.717000	0.41224	5.891000	0.69782	0.804000	0.34136	-0.136000	0.14681	CAG		0.577	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1		NM_015472		8	40	0	0	0	1	0	8	40		
IGSF10	285313	broad.mit.edu	37	3	151163897	151163897	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:151163897A>T	ENST00000282466.3	-	4	3871	c.3872T>A	c.(3871-3873)tTc>tAc	p.F1291Y		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1291					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGGGGTGGGAAGGGAAGCTC	0.433																																						uc011bod.1		NaN																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(3871-3873)TTC>TAC		immunoglobulin superfamily, member 10 precursor							253.0	238.0	243.0					3																	151163897		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151163897A>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3872T>A	3.37:g.151163897A>T	ENSP00000282466:p.Phe1291Tyr						p.F1291Y	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3872	-			1291					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.3872T>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.981075	0.34942	.	.	ENSG00000152580	ENST00000282466	T	0.68624	-0.34	5.0	-0.112	0.13572	.	0.665589	0.13025	N	0.419778	T	0.40670	0.1126	N	0.08118	0	0.09310	N	1	P	0.39282	0.666	B	0.34489	0.184	T	0.24083	-1.0170	10	0.48119	T	0.1	.	9.3575	0.38175	0.2957:0.0:0.7043:0.0	.	1291	Q6WRI0	IGS10_HUMAN	Y	1291	ENSP00000282466:F1291Y	ENSP00000282466:F1291Y	F	-	2	0	IGSF10	152646587	0.078000	0.21339	0.001000	0.08648	0.005000	0.04900	1.556000	0.36288	0.006000	0.14734	0.482000	0.46254	TTC		0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1		NM_178822		53	124	0	0	0	1	0	53	124		
ARHGEF26	26084	broad.mit.edu	37	3	153870637	153870637	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:153870637C>G	ENST00000356448.4	+	6	1687	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.S468C	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	468	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TTTAAAAATTCTAAAGAACTG	0.363																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc011bog.1		NaN																	0				large_intestine(1)	1						c.(1402-1404)TCT>TGT		Src homology 3 domain-containing guanine							56.0	50.0	52.0					3																	153870637		1843	4078	5921	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153870637C>G	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1403C>G	3.37:g.153870637C>G	ENSP00000348828:p.Ser468Cys					SGEF_uc011boh.1_Missense_Mutation_p.S468C	p.S468C	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		6	1614	+			468			DH.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.1403C>G	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107580	0.77096	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.64260	-0.09;-0.09	5.67	5.67	0.87782	Dbl homology (DH) domain (5);	0.058758	0.64402	D	0.000001	T	0.79387	0.4437	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.956;0.999	T	0.80422	-0.1389	10	0.87932	D	0	-14.8963	19.7743	0.96385	0.0:1.0:0.0:0.0	.	468;468	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	C	468	ENSP00000348828:S468C;ENSP00000423418:S468C	ENSP00000348828:S468C	S	+	2	0	ARHGEF26	155353327	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.793000	0.62474	2.663000	0.90544	0.557000	0.71058	TCT		0.363	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3		NM_015595		5	8	0	0	0	1	0	5	8		
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, 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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	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	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(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.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	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.chr3:178936091G>A		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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	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)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				6	50	0	0	0	1	0	6	50		
CHRD	8646	broad.mit.edu	37	3	184103022	184103022	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:184103022C>T	ENST00000204604.1	+	14	2060	c.1814C>T	c.(1813-1815)tCa>tTa	p.S605L	CHRD_ENST00000450923.1_Missense_Mutation_p.S605L|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.S235L|CHRD_ENST00000348986.3_Missense_Mutation_p.S565L	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	605	CHRD 4. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCTATGGCTCAGAGGTAAGG	0.582																																						uc003fov.2		NaN																	0				skin(2)|ovary(1)	3						c.(1813-1815)TCA>TTA		chordin precursor							39.0	43.0	41.0					3																	184103022		2202	4298	6500	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184103022C>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1814C>T	3.37:g.184103022C>T	ENSP00000204604:p.Ser605Leu					CHRD_uc003fow.2_Missense_Mutation_p.S235L|CHRD_uc003fox.2_Missense_Mutation_p.S605L|CHRD_uc003foy.2_Missense_Mutation_p.S235L|CHRD_uc010hyc.2_Missense_Mutation_p.S195L|CHRD_uc011brr.1_Missense_Mutation_p.S235L	p.S605L	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		14	2060	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		605			CHRD 4.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.1814C>T	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324419	0.81580	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.29	5.29	0.74685	CHRD (3);	0.443296	0.24796	N	0.035536	T	0.51160	0.1658	L	0.53249	1.67	0.40728	D	0.982726	B;P;B;P	0.36837	0.048;0.515;0.154;0.571	B;B;B;B	0.41510	0.213;0.359;0.284;0.312	T	0.56498	-0.7969	10	0.66056	D	0.02	-0.101	16.8087	0.85712	0.0:1.0:0.0:0.0	.	235;565;605;605	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	L	605;605;565;235;318	ENSP00000204604:S605L;ENSP00000408972:S605L;ENSP00000334036:S565L;ENSP00000442948:S235L	ENSP00000204604:S605L	S	+	2	0	CHRD	185585716	0.999000	0.42202	0.997000	0.53966	0.929000	0.56500	6.754000	0.74909	2.662000	0.90505	0.655000	0.94253	TCA		0.582	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1		NM_003741		18	62	0	0	0	1	0	18	62		
WHSC1	7468	broad.mit.edu	37	4	1977056	1977056	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:1977056C>T	ENST00000382895.3	+	22	3981	c.3550C>T	c.(3550-3552)Ctg>Ttg	p.L1184L	WHSC1_ENST00000382888.3_Silent_p.L532L|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Silent_p.L1184L|WHSC1_ENST00000382892.2_Silent_p.L1184L|WHSC1_ENST00000508803.1_Silent_p.L1184L|SCARNA22_ENST00000503991.1_RNA	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1184					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCTCGATTGTCTGGGCAATGA	0.532			T	IGH@	MM																																	uc003gdz.3		NaN		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(3550-3552)CTG>TTG		Wolf-Hirschhorn syndrome candidate 1 protein							94.0	89.0	91.0					4																	1977056		2203	4300	6503	SO:0001819	synonymous_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1977056C>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3550C>T	4.37:g.1977056C>T						WHSC1_uc003geb.3_Silent_p.L1184L|WHSC1_uc003gec.3_Silent_p.L1184L|WHSC1_uc003ged.3_Silent_p.L1184L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.L403L|WHSC1_uc011bvh.1_Silent_p.L245L|WHSC1_uc010icf.2_Silent_p.L532L	p.L1184L	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	20	3726	+		all_epithelial(65;1.34e-05)	1184			SET.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.3550C>T	CCDS33940.1																																																																																				0.532	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2		NM_133330		18	24	0	0	0	1	0	18	24		
NELFA	7469	broad.mit.edu	37	4	1991499	1991499	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:1991499C>T	ENST00000411638.2	-	3	495	c.480G>A	c.(478-480)gtG>gtA	p.V160V	NELFA_ENST00000542778.1_Silent_p.V25V|NELFA_ENST00000382882.3_Silent_p.V171V	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	160					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										GAAAATGCTTCACCGGGGGAG	0.612																																						uc003gem.2		NaN																	0				skin(1)	1						c.(511-513)GTG>GTA		Wolf-Hirschhorn syndrome candidate 2 protein							114.0	131.0	125.0					4																	1991499		2203	4300	6503	SO:0001819	synonymous_variant	7469				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		g.chr4:1991499C>T	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.480G>A	4.37:g.1991499C>T						WHSC2_uc003gel.2_Silent_p.V85V|WHSC2_uc003gen.2_Silent_p.V25V	p.V171V	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		3	753	-			160					A2A2T1|O95392	Silent	SNP	ENST00000411638.2	37	c.513G>A																																																																																					0.612	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1		NM_005663		50	94	0	0	0	1	0	50	94		
HAUS3	79441	broad.mit.edu	37	4	2238161	2238161	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:2238161C>G	ENST00000243706.4	-	4	1601	c.1372G>C	c.(1372-1374)Gag>Cag	p.E458Q	POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.E458Q|HAUS3_ENST00000506763.1_Missense_Mutation_p.E458Q	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	458					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)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTCTTATTCTCTCCCTCCAAA	0.313																																						uc003ges.1		NaN																	0				large_intestine(2)|breast(2)	4						c.(1372-1374)GAG>CAG		HAUS augmin-like complex, subunit 3							49.0	53.0	51.0					4																	2238161		2203	4299	6502	SO:0001583	missense	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2238161C>G	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1372G>C	4.37:g.2238161C>G	ENSP00000243706:p.Glu458Gln					POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.E458Q|HAUS3_uc003get.1_Missense_Mutation_p.E458Q	p.E458Q	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN			4	1602	-			458			Potential.		B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	c.1372G>C	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705522	0.48412	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.43688	0.94;0.94	5.59	5.59	0.84812	.	0.481869	0.20856	U	0.084432	T	0.41558	0.1164	L	0.59436	1.845	0.28753	N	0.90132	B;B	0.26081	0.114;0.141	B;B	0.24394	0.053;0.034	T	0.32268	-0.9913	10	0.14656	T	0.56	-37.7386	18.564	0.91111	0.0:1.0:0.0:0.0	.	458;458	B4DF64;Q68CZ6	.;HAUS3_HUMAN	Q	458	ENSP00000243706:E458Q;ENSP00000392903:E458Q	ENSP00000243706:E458Q	E	-	1	0	HAUS3	2207959	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.240000	0.51368	2.630000	0.89119	0.557000	0.71058	GAG		0.313	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1		NM_024511		22	33	0	0	0	1	0	22	33		
ZBTB49	166793	broad.mit.edu	37	4	4322918	4322918	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:4322918G>A	ENST00000337872.4	+	8	2294	c.2173G>A	c.(2173-2175)Gac>Aac	p.D725N	RP11-265O12.1_ENST00000509015.1_lincRNA|ZBTB49_ENST00000538529.1_Missense_Mutation_p.D208N|ZBTB49_ENST00000355834.3_Missense_Mutation_p.D603N	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	725					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(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CCACGGCGGTGACCCCCTGGG	0.587																																						uc003ghu.2		NaN																	0				ovary(1)|skin(1)	2						c.(2173-2175)GAC>AAC		zinc finger protein 509							53.0	51.0	52.0					4																	4322918		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4322918G>A	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.2173G>A	4.37:g.4322918G>A	ENSP00000338807:p.Asp725Asn					uc003ghw.2_5'Flank|ZBTB49_uc003ghv.2_Missense_Mutation_p.D208N|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Missense_Mutation_p.D303N	p.D725N	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN			8	2348	+			725					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.2173G>A	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053764	0.55218	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	T;T;T	0.14516	2.5;2.85;3.17	4.73	4.73	0.59995	.	0.118520	0.37012	N	0.002281	T	0.21186	0.0510	M	0.64997	1.995	0.09310	N	0.999998	P;P	0.41848	0.763;0.651	P;B	0.44897	0.463;0.212	T	0.16630	-1.0396	10	0.17832	T	0.49	.	18.0738	0.89421	0.0:0.0:1.0:0.0	.	603;725	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	N	603;725;208	ENSP00000348091:D603N;ENSP00000338807:D725N;ENSP00000445653:D208N	ENSP00000338807:D725N	D	+	1	0	ZBTB49	4373819	0.987000	0.35691	0.013000	0.15412	0.339000	0.28857	4.949000	0.63596	2.354000	0.79902	0.650000	0.86243	GAC		0.587	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3		NM_145291		12	15	0	0	0	1	0	12	15		
MRFAP1L1	114932	broad.mit.edu	37	4	6711276	6711276	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:6711276G>A	ENST00000320848.6	-	1	331	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_203462.2	NP_982287.1	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	27																	CCGGGAGCAGGAACTGCTCGA	0.632																																						uc003gjn.2		NaN																	0					0						c.(79-81)TTC>TTT		Morf4 family associated protein 1-like 1							56.0	55.0	55.0					4																	6711276		2203	4300	6503	SO:0001819	synonymous_variant	114932							g.chr4:6711276G>A	AF258591	CCDS3392.1	4p16.1	2008-02-05			ENSG00000178988	ENSG00000178988			28796	protein-coding gene	gene with protein product						12477932	Standard	NM_203462		Approved	MGC9651	uc003gjo.3	Q96HT8	OTTHUMG00000125507	ENST00000320848.6:c.81C>T	4.37:g.6711276G>A						MRFAP1L1_uc003gjo.2_Silent_p.F27F	p.F27F	NM_203462	NP_982287	Q96HT8	MR1L1_HUMAN			1	321	-			27					B2R6R0|Q6NXT8|Q9P0J5	Silent	SNP	ENST00000320848.6	37	c.81C>T	CCDS3392.1																																																																																				0.632	MRFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246834.1		NM_152301		21	32	0	0	0	1	0	21	32		
TBC1D14	57533	broad.mit.edu	37	4	7016174	7016174	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:7016174G>A	ENST00000409757.4	+	12	1771		c.e12-1		TBC1D14_ENST00000410031.1_Splice_Site|TBC1D14_ENST00000451522.2_Splice_Site|TBC1D14_ENST00000448507.1_Splice_Site|TBC1D14_ENST00000446947.2_Splice_Site	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14						negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TATCTCCCTAGATGTTGACTT	0.299																																						uc011bwg.1		NaN																	0				ovary(1)|pancreas(1)	2						c.e12-1		TBC1 domain family, member 14 isoform a							72.0	71.0	72.0					4																	7016174		2202	4299	6501	SO:0001630	splice_region_variant	57533					intracellular	Rab GTPase activator activity	g.chr4:7016174G>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1648-1G>A	4.37:g.7016174G>A						TBC1D14_uc003gjs.3_Splice_Site_p.M550_splice|TBC1D14_uc010idh.2_Splice_Site_p.M270_splice|TBC1D14_uc011bwh.1_Splice_Site_p.M197_splice|TBC1D14_uc003gju.3_Splice_Site_p.M41_splice	p.M550_splice	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN			12	1727	+								B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Splice_Site	SNP	ENST00000409757.4	37	c.1648_splice	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680964	0.88542	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000446947	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5565	0.91086	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D14	7067075	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.386000	0.97228	2.641000	0.89580	0.643000	0.83706	.		0.299	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3		NM_020773	Intron	4	7	0	0	0	1	0	4	7		
UGT2B27P	54569	broad.mit.edu	37	4	69870721	69870721	+	IGR	SNP	A	A	G	rs111542944	byFrequency	TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:69870721A>G								UGT2A3 (53212 upstream) : UGT2B7 (46472 downstream)																							AGGTGAGGTCATGGGCTGCAA	0.478													N|||	1129	0.225439	0.2405	0.196	5008	,	,		16460	0.3502		0.169	False		,,,				2504	0.1554					uc011cao.1		NaN																	0				skin(3)|ovary(2)	5						c.(1327-1329)CAT>CAC		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;		A		302,1082		40,222,430	149.0	111.0	123.0			-2.1	0.0	4	dbSNP_132	123	537,2645		43,451,1097	no	intergenic				83,673,1527	GG,GA,AA		16.8762,21.8208,18.3749			69870721	839,3727	692	1591	2283	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69870721A>G																													4.37:g.69870721A>G						UGT2B10_uc011can.1_Silent_p.H359H	p.H443H			P36537	UDB10_HUMAN			9	1465	-			480						Silent	SNP		37	c.1329T>C																																																																																				0	0.478										6	96	0	0	0	1	0	6	96		
FRAS1	80144	broad.mit.edu	37	4	79229280	79229280	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:79229280G>C	ENST00000325942.6	+	15	2035	c.1595G>C	c.(1594-1596)aGa>aCa	p.R532T	FRAS1_ENST00000264895.6_Missense_Mutation_p.R532T|FRAS1_ENST00000264899.6_Missense_Mutation_p.R532T	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	532					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTGGCCTGCAGAGATCCCCTC	0.577																																						uc003hlb.2		NaN																	0				large_intestine(5)	5						c.(1594-1596)AGA>ACA		Fraser syndrome 1							73.0	81.0	78.0					4																	79229280		2143	4251	6394	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79229280G>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1595G>C	4.37:g.79229280G>C	ENSP00000326330:p.Arg532Thr					FRAS1_uc003hkw.2_Missense_Mutation_p.R532T|FRAS1_uc003hky.1_Missense_Mutation_p.R236T|FRAS1_uc003hkz.2_Missense_Mutation_p.R236T|FRAS1_uc003hla.1_Missense_Mutation_p.R43T	p.R532T	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			15	2035	+			532			FU 3.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.1595G>C	CCDS54772.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	12.80|12.80|12.80	2.045659|2.045659|2.045659	0.36085|0.36085|0.36085	.|.|.	.|.|.	ENSG00000138759|ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000508900|ENST00000325942;ENST00000264895;ENST00000264899	.|.|T;T;T	.|.|0.46451	.|.|0.87;0.87;0.87	5.57|5.57|5.57	3.82|3.82|3.82	0.43975|0.43975|0.43975	.|.|Growth factor, receptor (1);	.|.|0.342170	.|.|0.31495	.|.|N	.|.|0.007550	T|T|T	0.29423|0.29423|0.29423	0.0733|0.0733|0.0733	N|N|N	0.21097|0.21097|0.21097	0.63|0.63|0.63	0.30720|0.30720|0.30720	N|N|N	0.748301|0.748301|0.748301	.|.|B;P;P;P	.|.|0.45594	.|.|0.215;0.749;0.862;0.615	.|.|B;B;P;B	.|.|0.44477	.|.|0.071;0.206;0.451;0.146	T|T|T	0.15435|0.15435|0.15435	-1.0437|-1.0437|-1.0437	5|5|10	.|.|0.30854	.|.|T	.|.|0.27	.|.|.	8.1989|8.1989|8.1989	0.31413|0.31413|0.31413	0.2419:0.0:0.7581:0.0|0.2419:0.0:0.7581:0.0|0.2419:0.0:0.7581:0.0	.|.|.	.|.|532;532;532;532	.|.|E9PHH6;Q86XX4;E7EWM9;A2RRR8	.|.|.;FRAS1_HUMAN;.;.	Q|H|T	461|374|532	.|.|ENSP00000326330:R532T;ENSP00000264895:R532T;ENSP00000264899:R532T	.|.|ENSP00000264895:R532T	E|Q|R	+|+|+	1|3|2	0|2|0	FRAS1|FRAS1|FRAS1	79448304|79448304|79448304	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.533000|0.533000|0.533000	0.34776|0.34776|0.34776	1.397000|1.397000|1.397000	0.34543|0.34543|0.34543	1.497000|1.497000|1.497000	0.48584|0.48584|0.48584	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAG|CAG|AGA		0.577	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2				5	11	0	0	0	1	0	5	11		
NUDT6	11162	broad.mit.edu	37	4	123814162	123814162	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:123814162C>T	ENST00000304430.5	-	5	805	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	NUDT6_ENST00000608639.1_5'Flank|FGF2_ENST00000264498.3_3'UTR|NUDT6_ENST00000339154.2_Missense_Mutation_p.E89K|NUDT6_ENST00000502270.1_Missense_Mutation_p.E89K|FGF2_ENST00000608478.1_3'UTR	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	258	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.			KTEN -> RTKH (in Ref. 4; AAA67062). {ECO:0000305}.		mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						GTTGTATTTTCAGTCTTCGCC	0.448																																						uc003iew.2		NaN																	0					0						c.(772-774)GAA>AAA		nudix-type motif 6 isoform a							129.0	122.0	124.0					4																	123814162		2203	4300	6503	SO:0001583	missense	11162					mitochondrion|nucleus	growth factor activity|hydrolase activity	g.chr4:123814162C>T	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.772G>A	4.37:g.123814162C>T	ENSP00000306070:p.Glu258Lys					FGF2_uc003iev.1_3'UTR|NUDT6_uc003iex.2_Missense_Mutation_p.E89K	p.E258K	NM_007083	NP_009014	P53370	NUDT6_HUMAN			5	804	-			258	KTEN -> RTKH (in Ref. 4; AAA67062).		Nudix hydrolase.		A8K756|O95097|Q9UQD9	Missense_Mutation	SNP	ENST00000304430.5	37	c.772G>A	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	C	0.188	-1.055936	0.01965	.	.	ENSG00000170917	ENST00000304430;ENST00000339154;ENST00000502270	T;T;T	0.29655	1.56;1.56;1.56	5.11	0.366	0.16136	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.971571	0.08570	N	0.926269	T	0.16300	0.0392	N	0.12422	0.21	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.34054	-0.9844	10	0.12766	T	0.61	-22.4098	10.2161	0.43168	0.0:0.4032:0.0:0.5968	.	258	P53370	NUDT6_HUMAN	K	258;89;89	ENSP00000306070:E258K;ENSP00000344011:E89K;ENSP00000424117:E89K	ENSP00000306070:E258K	E	-	1	0	NUDT6	124033612	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.551000	0.23361	-0.042000	0.13535	-0.145000	0.13849	GAA		0.448	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3		NM_007083		8	69	0	0	0	1	0	8	69		
TENM3	55714	broad.mit.edu	37	4	183714402	183714402	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:183714402G>A	ENST00000511685.1	+	26	6700	c.6577G>A	c.(6577-6579)Gaa>Aaa	p.E2193K	TENM3_ENST00000406950.2_Missense_Mutation_p.E2193K			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2193					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCGGTTGGATGAAGATGGTTT	0.483																																						uc003ivd.1		NaN																	0					0						c.(6577-6579)GAA>AAA		odz, odd Oz/ten-m homolog 3							111.0	108.0	109.0					4																	183714402		1938	4144	6082	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183714402G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6577G>A	4.37:g.183714402G>A	ENSP00000424226:p.Glu2193Lys						p.E2193K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	25	6614	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	2193			Extracellular (Potential).|YD 20.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.6577G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953958	0.73902	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86769	-2.17;-2.17	4.89	4.89	0.63831	.	.	.	.	.	D	0.83608	0.5291	L	0.60845	1.875	0.80722	D	1	P	0.51791	0.948	B	0.38056	0.264	T	0.83144	-0.0107	9	0.23891	T	0.37	.	18.2684	0.90060	0.0:0.0:1.0:0.0	.	2193	Q9P273	TEN3_HUMAN	K	2193	ENSP00000424226:E2193K;ENSP00000385276:E2193K	ENSP00000385276:E2193K	E	+	1	0	ODZ3	183951396	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	9.623000	0.98386	2.534000	0.85438	0.563000	0.77884	GAA		0.483	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1				20	41	0	0	0	1	0	20	41		
SNX25	83891	broad.mit.edu	37	4	186185662	186185662	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:186185662C>G	ENST00000504273.1	+	4	604	c.310C>G	c.(310-312)Cta>Gta	p.L104V	SNX25_ENST00000264694.8_Missense_Mutation_p.L104V			Q9H3E2	SNX25_HUMAN	sorting nexin 25	104	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AGTAAGATTTCTACAAACGTG	0.413																																						uc003ixh.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(310-312)CTA>GTA		sorting nexin 25							177.0	163.0	168.0					4																	186185662		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186185662C>G	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.310C>G	4.37:g.186185662C>G	ENSP00000426255:p.Leu104Val						p.L104V	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	4	499	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	104			PXA.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.310C>G	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679210	0.68042	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.19394	2.15;2.15	5.04	4.2	0.49525	Phox-associated domain (2);	0.000000	0.64402	D	0.000005	T	0.46132	0.1377	M	0.82323	2.585	0.46654	D	0.999148	D	0.76494	0.999	D	0.87578	0.998	T	0.44967	-0.9293	10	0.48119	T	0.1	-8.6728	9.8142	0.40842	0.0:0.8438:0.0:0.1562	.	104	Q9H3E2	SNX25_HUMAN	V	104	ENSP00000426255:L104V;ENSP00000264694:L104V	ENSP00000264694:L104V	L	+	1	2	SNX25	186422656	1.000000	0.71417	0.913000	0.36048	0.975000	0.68041	2.942000	0.49018	1.361000	0.45981	0.491000	0.48974	CTA		0.413	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1		NM_031953		28	42	0	0	0	1	0	28	42		
TLR3	7098	broad.mit.edu	37	4	186997899	186997899	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:186997899G>A	ENST00000296795.3	+	2	230	c.126G>A	c.(124-126)ttG>ttA	p.L42L		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	42	LRRNT.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ACCTGAAGTTGACTCAGGTAC	0.498																																						uc003iyq.2		NaN																	0				ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(124-126)TTG>TTA		toll-like receptor 3 precursor							116.0	103.0	108.0					4																	186997899		2203	4300	6503	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997899G>A	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.126G>A	4.37:g.186997899G>A							p.L42L	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	227	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	42			LRRNT.|Lumenal (Potential).		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.126G>A	CCDS3846.1																																																																																				0.498	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4				4	47	0	0	0	1	0	4	47		
IRX1	79192	broad.mit.edu	37	5	3600251	3600251	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:3600251C>T	ENST00000302006.3	+	2	1241	c.1189C>T	c.(1189-1191)Ccc>Tcc	p.P397S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	397					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGTTGGCGCTCCCCACGCCGC	0.662																																						uc003jde.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1189-1191)CCC>TCC		iroquois homeobox protein 1							48.0	47.0	47.0					5																	3600251		2202	4300	6502	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600251C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1189C>T	5.37:g.3600251C>T	ENSP00000305244:p.Pro397Ser						p.P397S	NM_024337	NP_077313	P78414	IRX1_HUMAN			2	1241	+			397					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1189C>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	5.091	0.202379	0.09652	.	.	ENSG00000170549	ENST00000302006	T	0.57273	0.41	4.0	4.0	0.46444	.	0.683044	0.13687	N	0.369781	T	0.31451	0.0797	N	0.08118	0	0.42806	D	0.993942	B	0.33694	0.421	B	0.32864	0.154	T	0.12811	-1.0533	10	0.07813	T	0.8	.	16.1178	0.81321	0.0:1.0:0.0:0.0	.	397	P78414	IRX1_HUMAN	S	397	ENSP00000305244:P397S	ENSP00000305244:P397S	P	+	1	0	IRX1	3653251	1.000000	0.71417	0.845000	0.33349	0.060000	0.15804	4.941000	0.63540	1.748000	0.51833	0.467000	0.42956	CCC		0.662	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1		NM_024337		7	39	0	0	0	1	0	7	39		
ADCY2	108	broad.mit.edu	37	5	7414870	7414870	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:7414870C>T	ENST00000338316.4	+	2	484	c.395C>T	c.(394-396)tCt>tTt	p.S132F		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	132					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGCACCGTCTCTCCCTGGGAC	0.423																																						uc003jdz.1		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(394-396)TCT>TTT		adenylate cyclase 2							189.0	164.0	172.0					5																	7414870		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7414870C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.395C>T	5.37:g.7414870C>T	ENSP00000342952:p.Ser132Phe						p.S132F	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			2	462	+			132					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.395C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	6.838	0.523919	0.13066	.	.	ENSG00000078295	ENST00000338316	T	0.78246	-1.16	5.0	4.11	0.48088	.	0.242592	0.41712	D	0.000834	T	0.61413	0.2345	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.52815	-0.8525	10	0.10111	T	0.7	.	7.8781	0.29605	0.0:0.7268:0.1799:0.0934	.	132	Q08462	ADCY2_HUMAN	F	132	ENSP00000342952:S132F	ENSP00000342952:S132F	S	+	2	0	ADCY2	7467870	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	4.035000	0.57297	2.481000	0.83766	0.563000	0.77884	TCT		0.423	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546		10	78	0	0	0	1	0	10	78		
MTRR	4552	broad.mit.edu	37	5	7878257	7878257	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:7878257G>A	ENST00000264668.2	+	5	713	c.683G>A	c.(682-684)aGa>aAa	p.R228K	MTRR_ENST00000440940.2_Missense_Mutation_p.R201K|MTRR_ENST00000341013.6_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	228	Hinge.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|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)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GATTCAGGAAGAAAGGATTCT	0.468																																						uc003jed.2		NaN																	0				ovary(1)	1						c.(682-684)AGA>AAA		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						118.0	113.0	115.0					5																	7878257		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7878257G>A	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.683G>A	5.37:g.7878257G>A	ENSP00000264668:p.Arg228Lys					MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.R201K|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	p.R228K	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			5	713	+			228			Hinge.		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.683G>A	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883360	0.33255	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	T;T	0.02032	4.49;4.49	5.91	3.01	0.34805	.	1.711270	0.02111	N	0.054857	T	0.02193	0.0068	L	0.38838	1.175	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.50915	-0.8771	10	0.06099	T	0.92	-0.6296	2.618	0.04908	0.1431:0.2049:0.4539:0.1982	.	228	Q9UBK8	MTRR_HUMAN	K	228;201	ENSP00000264668:R228K;ENSP00000402510:R201K	ENSP00000264668:R228K	R	+	2	0	MTRR	7931257	0.000000	0.05858	0.003000	0.11579	0.824000	0.46624	0.441000	0.21611	0.823000	0.34589	0.655000	0.94253	AGA		0.468	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1				9	177	0	0	0	1	0	9	177		
MTRR	4552	broad.mit.edu	37	5	7878391	7878391	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:7878391C>T	ENST00000264668.2	+	5	847	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	MTRR_ENST00000440940.2_Missense_Mutation_p.P246S|MTRR_ENST00000341013.6_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	273	Hinge.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|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)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TCCTGGTTTACCCCCAGAATA	0.423																																						uc003jed.2		NaN																	0				ovary(1)	1						c.(817-819)CCC>TCC		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						137.0	147.0	144.0					5																	7878391		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7878391C>T	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.817C>T	5.37:g.7878391C>T	ENSP00000264668:p.Pro273Ser					MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.P246S|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	p.P273S	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			5	847	+			273			Hinge.		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.817C>T	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	C	8.997	0.979172	0.18812	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	T;T	0.31769	1.48;1.48	5.87	2.11	0.27256	Riboflavin synthase-like beta-barrel (1);	0.332563	0.36703	N	0.002453	T	0.20210	0.0486	L	0.43152	1.355	0.52501	D	0.999953	P	0.42941	0.794	B	0.35114	0.196	T	0.02617	-1.1133	10	0.33940	T	0.23	-13.3235	7.9098	0.29785	0.0:0.6908:0.1167:0.1925	.	273	Q9UBK8	MTRR_HUMAN	S	273;246	ENSP00000264668:P273S;ENSP00000402510:P246S	ENSP00000264668:P273S	P	+	1	0	MTRR	7931391	0.663000	0.27448	0.003000	0.11579	0.032000	0.12392	2.257000	0.43240	0.105000	0.17753	0.650000	0.86243	CCC		0.423	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1				41	242	0	0	0	1	0	41	242		
MTRR	4552	broad.mit.edu	37	5	7892992	7892992	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:7892992C>T	ENST00000264668.2	+	11	1634	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	MTRR_ENST00000440940.2_Missense_Mutation_p.S508F	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	535	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|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)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ATACATGCATCCCATGAAGAC	0.448																																						uc003jed.2		NaN																	0				ovary(1)	1						c.(1603-1605)TCC>TTC		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						103.0	86.0	92.0					5																	7892992		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7892992C>T	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1604C>T	5.37:g.7892992C>T	ENSP00000264668:p.Ser535Phe					MTRR_uc003jee.3_Missense_Mutation_p.S508F|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	p.S535F	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			11	1634	+			535			FAD-binding FR-type.		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.1604C>T	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523678	0.27299	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	T;T	0.02525	4.26;4.27	4.75	1.66	0.24008	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	1.671310	0.02780	N	0.120751	T	0.03390	0.0098	L	0.59436	1.845	0.09310	N	1	P	0.42735	0.788	B	0.31245	0.126	T	0.41805	-0.9488	10	0.59425	D	0.04	-0.2195	1.2934	0.02065	0.2957:0.3879:0.1439:0.1724	.	535	Q9UBK8	MTRR_HUMAN	F	535;508	ENSP00000264668:S535F;ENSP00000402510:S508F	ENSP00000264668:S535F	S	+	2	0	MTRR	7945992	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.067000	0.11579	0.489000	0.27749	0.655000	0.94253	TCC		0.448	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1				21	71	0	0	0	1	0	21	71		
FAM173B	134145	broad.mit.edu	37	5	10235356	10235356	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:10235356G>T	ENST00000511437.1	-	4	474	c.462C>A	c.(460-462)taC>taA	p.Y154*	FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Intron	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	154						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CAACGTTCGAGTACTGCGAAA	0.428																																						uc003jeo.2		NaN																	0				kidney(1)|central_nervous_system(1)	2						c.(460-462)TAC>TAA		hypothetical protein LOC134145							96.0	93.0	94.0					5																	10235356		1938	4147	6085	SO:0001587	stop_gained	134145					integral to membrane		g.chr5:10235356G>T		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.462C>A	5.37:g.10235356G>T	ENSP00000422338:p.Tyr154*					FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Intron	p.Y154*	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN			4	491	-			154					B4DT41|B4DXK2|E9PBZ4	Nonsense_Mutation	SNP	ENST00000511437.1	37	c.462C>A	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446053	0.43429	.	.	ENSG00000150756	ENST00000511437	.	.	.	5.41	3.37	0.38596	.	0.116516	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9649	4.3623	0.11208	0.4296:0.0:0.5704:0.0	.	.	.	.	X	154	.	ENSP00000422338:Y154X	Y	-	3	2	FAM173B	10288356	1.000000	0.71417	0.642000	0.29436	0.135000	0.20990	2.650000	0.46665	1.283000	0.44513	0.561000	0.74099	TAC		0.428	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2		NM_199133		6	42	1	0	0.000157383	1	0.000159539	6	42		
CDH9	1007	broad.mit.edu	37	5	26890543	26890543	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:26890543C>T	ENST00000231021.4	-	8	1556	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	462	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E462*(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTACTTATTTCTGTGGCTGTA	0.393																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NaN																	1	Substitution - Nonsense(1)		prostate(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1384-1386)GAA>AAA		cadherin 9, type 2 preproprotein							105.0	104.0	105.0					5																	26890543		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26890543C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1384G>A	5.37:g.26890543C>T	ENSP00000231021:p.Glu462Lys					CDH9_uc011cnv.1_Missense_Mutation_p.E55K	p.E462K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			8	1553	-			462			Extracellular (Potential).|Cadherin 4.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1384G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873739	0.91664	.	.	ENSG00000113100	ENST00000231021	T	0.61392	0.11	5.09	5.09	0.68999	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.87456	2.885	0.58432	D	0.999999	B;P	0.36465	0.096;0.554	B;B	0.41946	0.163;0.371	T	0.72243	-0.4350	9	.	.	.	.	17.0519	0.86521	0.0:1.0:0.0:0.0	.	55;462	B4DFP0;Q9ULB4	.;CADH9_HUMAN	K	462	ENSP00000231021:E462K	.	E	-	1	0	CDH9	26926300	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.785000	0.85724	2.385000	0.81259	0.453000	0.30009	GAA		0.393	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1		NM_016279		21	126	0	0	0	1	0	21	126		
ADAMTS12	81792	broad.mit.edu	37	5	33596062	33596062	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:33596062G>T	ENST00000504830.1	-	17	2966	c.2631C>A	c.(2629-2631)tgC>tgA	p.C877*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.C792*|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	877	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCTTTTCATGGCACTTCTTCT	0.527										HNSCC(64;0.19)																												uc003jia.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2629-2631)TGC>TGA		ADAM metallopeptidase with thrombospondin type 1							228.0	191.0	204.0					5																	33596062		2203	4300	6503	SO:0001587	stop_gained	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33596062G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2631C>A	5.37:g.33596062G>T	ENSP00000422554:p.Cys877*	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.C792*	p.C877*	NM_030955	NP_112217	P58397	ATS12_HUMAN			17	2794	-			877			TSP type-1 2.		A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	c.2631C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	44	10.590553	0.99433	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.77	2.87	0.33458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	10.7205	0.46038	0.2148:0.0:0.7852:0.0	.	.	.	.	X	877;792	.	ENSP00000344847:C792X	C	-	3	2	ADAMTS12	33631819	1.000000	0.71417	0.956000	0.39512	0.984000	0.73092	2.163000	0.42377	0.817000	0.34445	0.585000	0.79938	TGC		0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		17	112	1	0	2.94398e-08	1	3.05608e-08	17	112		
UGT3A1	133688	broad.mit.edu	37	5	35957426	35957426	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:35957426G>C	ENST00000274278.3	-	5	1296	c.939C>G	c.(937-939)ctC>ctG	p.L313L	UGT3A1_ENST00000507113.1_Silent_p.L279L|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Silent_p.L313L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	313						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCATCTTCTTGAGGACTTCCT	0.493																																						uc003jjv.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(937-939)CTC>CTG		UDP glycosyltransferase 3 family, polypeptide A1							126.0	105.0	112.0					5																	35957426		2203	4300	6503	SO:0001819	synonymous_variant	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35957426G>C		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.939C>G	5.37:g.35957426G>C						UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Silent_p.L313L|UGT3A1_uc011cor.1_Silent_p.L279L	p.L313L	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1096	-	all_lung(31;0.000197)		313			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Silent	SNP	ENST00000274278.3	37	c.939C>G	CCDS3913.1																																																																																				0.493	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2		NM_152404		6	85	0	0	0	1	0	6	85		
RANBP3L	202151	broad.mit.edu	37	5	36265595	36265595	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:36265595G>C	ENST00000296604.3	-	5	781	c.296C>G	c.(295-297)tCa>tGa	p.S99*	RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.S124*|RANBP3L_ENST00000515759.1_Nonsense_Mutation_p.S99*	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	99					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CACAAGAGCTGATGTCATAAA	0.299																																						uc003jkh.2		NaN																	0				ovary(1)	1						c.(295-297)TCA>TGA		RAN binding protein 3-like isoform 2							85.0	85.0	85.0					5																	36265595		2203	4300	6503	SO:0001587	stop_gained	202151				intracellular transport			g.chr5:36265595G>C	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.296C>G	5.37:g.36265595G>C	ENSP00000296604:p.Ser99*					RANBP3L_uc011cow.1_Nonsense_Mutation_p.S124*	p.S99*	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		5	789	-	all_lung(31;4.52e-05)		99					B7Z866|E9PGP9|Q96LK2	Nonsense_Mutation	SNP	ENST00000296604.3	37	c.296C>G	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704281	0.30232	.	.	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759;ENST00000505865	.	.	.	5.12	5.12	0.69794	.	0.643379	0.14566	N	0.311747	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	0.085	14.2461	0.65990	0.0:0.0:1.0:0.0	.	.	.	.	X	99;124;99;99	.	ENSP00000296604:S99X	S	-	2	0	RANBP3L	36301352	0.985000	0.35326	0.927000	0.36925	0.018000	0.09664	3.195000	0.51013	2.817000	0.96982	0.563000	0.77884	TCA		0.299	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2		NM_145000		15	75	0	0	0	1	0	15	75		
NUP155	9631	broad.mit.edu	37	5	37371053	37371053	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:37371053C>T	ENST00000231498.3	-	1	230	c.27G>A	c.(25-27)gcG>gcA	p.A9A	NUP155_ENST00000381843.2_5'Flank|NUP155_ENST00000513532.1_Silent_p.A9A	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	9					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGCCGGCATCGCCGCGCCCA	0.537																																						uc003jku.1		NaN																	0				ovary(1)	1						c.(25-27)GCG>GCA		nucleoporin 155kDa isoform 1							44.0	43.0	43.0					5																	37371053		2203	4300	6503	SO:0001819	synonymous_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37371053C>T	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.27G>A	5.37:g.37371053C>T						NUP155_uc003jkt.1_5'Flank|NUP155_uc010iuz.1_Silent_p.A9A	p.A9A	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	145	-	all_lung(31;0.000137)		9					Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	c.27G>A	CCDS3921.1																																																																																				0.537	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2		NM_153485, NM_004298		17	80	0	0	0	1	0	17	80		
PLCXD3	345557	broad.mit.edu	37	5	41382631	41382631	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:41382631G>A	ENST00000377801.3	-	2	183	c.109C>T	c.(109-111)Cat>Tat	p.H37Y	PLCXD3_ENST00000328457.3_Missense_Mutation_p.H37Y			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	37	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AAGGAATCATGAGACCCTAGG	0.458																																						uc003jmm.1		NaN																	0				skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(109-111)CAT>TAT		phosphatidylinositol-specific phospholipase C, X							38.0	42.0	41.0					5																	41382631		2183	4287	6470	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382631G>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.109C>T	5.37:g.41382631G>A	ENSP00000367032:p.His37Tyr						p.H37Y	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	211	-			37			PI-PLC X-box.	By similarity.	A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.109C>T	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373869	0.82573	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.93	5.93	0.95920	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (1);	0.000000	0.85682	D	0.000000	D	0.89368	0.6695	H	0.95079	3.62	0.80722	D	1	P	0.49559	0.925	D	0.65140	0.932	D	0.91321	0.5082	9	0.87932	D	0	-13.0232	20.3368	0.98748	0.0:0.0:1.0:0.0	.	37	Q63HM9	PLCX3_HUMAN	Y	37	.	ENSP00000333751:H37Y	H	-	1	0	PLCXD3	41418388	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.434000	0.97515	2.805000	0.96524	0.655000	0.94253	CAT		0.458	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1		XM_293875		36	47	0	0	0	1	0	36	47		
PARP8	79668	broad.mit.edu	37	5	50091139	50091139	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:50091139C>T	ENST00000281631.5	+	12	1474	c.1316C>T	c.(1315-1317)tCa>tTa	p.S439L	PARP8_ENST00000514342.2_Missense_Mutation_p.S192L|PARP8_ENST00000505697.2_Missense_Mutation_p.S439L|PARP8_ENST00000503750.2_Missense_Mutation_p.S439L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.S418L|PARP8_ENST00000514067.2_Missense_Mutation_p.S439L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	439						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCCCCCAAGTCATCCAAAACT	0.438																																						uc003jon.3		NaN																	0				lung(3)|large_intestine(1)|ovary(1)	5						c.(1315-1317)TCA>TTA		poly (ADP-ribose) polymerase family, member 8							81.0	85.0	84.0					5																	50091139		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50091139C>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1316C>T	5.37:g.50091139C>T	ENSP00000281631:p.Ser439Leu					PARP8_uc011cpz.1_Missense_Mutation_p.S331L|PARP8_uc003joo.2_Missense_Mutation_p.S439L|PARP8_uc003jop.2_Missense_Mutation_p.S439L	p.S439L	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			13	1498	+		Lung NSC(810;0.0305)|Breast(144;0.222)	439					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1316C>T	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198783	0.58126	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.49	5.49	0.81192	.	0.271864	0.31897	N	0.006885	T	0.38161	0.1030	N	0.08118	0	0.40931	D	0.98439	B;B;B	0.28291	0.044;0.206;0.016	B;B;B	0.21151	0.014;0.033;0.009	T	0.26503	-1.0101	8	.	.	.	-4.2915	19.7307	0.96181	0.0:1.0:0.0:0.0	.	331;439;439	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	L	439;439;192;439;439;418;192;192	.	.	S	+	2	0	PARP8	50126896	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.703000	0.61824	2.707000	0.92482	0.655000	0.94253	TCA		0.438	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3		NM_024615		22	50	0	0	0	1	0	22	50		
RNF180	285671	broad.mit.edu	37	5	63510308	63510308	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:63510308G>A	ENST00000389100.4	+	4	1227	c.1155G>A	c.(1153-1155)agG>agA	p.R385R	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Silent_p.R385R	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	385	Interaction with ZIC2. {ECO:0000250}.				adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		ATCTAAGAAGGAAACAACGAA	0.393																																						uc003jti.2		NaN																	0					0						c.(1153-1155)AGG>AGA		ring finger protein 180 isoform 1							58.0	64.0	62.0					5																	63510308		2194	4294	6488	SO:0001819	synonymous_variant	285671					integral to membrane|nuclear envelope	zinc ion binding	g.chr5:63510308G>A	AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.1155G>A	5.37:g.63510308G>A						RNF180_uc003jth.3_Silent_p.R385R|RNF180_uc010iws.2_Intron	p.R385R	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN		Lung(70;0.114)	4	1265	+		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)	385			Interaction with ZIC2 (By similarity).|Cytoplasmic (Potential).		Q0JSU3|Q495A8|Q8NBD1	Silent	SNP	ENST00000389100.4	37	c.1155G>A	CCDS47219.1																																																																																				0.393	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1		NM_178532		16	55	0	0	0	1	0	16	55		
AP3B1	8546	broad.mit.edu	37	5	77409639	77409639	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:77409639C>G	ENST00000255194.6	-	19	2361	c.2186G>C	c.(2185-2187)gGa>gCa	p.G729A	AP3B1_ENST00000519295.1_Missense_Mutation_p.G680A	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	729	Glu/Ser-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGACTCCCGTCCACTCTCACT	0.453									Hermansky-Pudlak syndrome																													uc003kfj.2		NaN																	0				central_nervous_system(1)	1						c.(2185-2187)GGA>GCA		adaptor-related protein complex 3, beta 1							199.0	163.0	175.0					5																	77409639		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77409639C>G	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2186G>C	5.37:g.77409639C>G	ENSP00000255194:p.Gly729Ala						p.G729A	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	19	2311	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	729			Glu/Ser-rich.		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.2186G>C	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.812704	0.00600	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760	D;D	0.86627	-2.15;-2.15	5.79	-1.84	0.07809	.	0.644679	0.17550	N	0.170208	T	0.74921	0.3780	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58255	-0.7668	10	0.20519	T	0.43	-1.0722	9.0713	0.36493	0.0:0.1552:0.5682:0.2766	.	729	O00203	AP3B1_HUMAN	A	729;680;729	ENSP00000255194:G729A;ENSP00000430597:G680A	ENSP00000255194:G729A	G	-	2	0	AP3B1	77445395	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.430000	0.06973	-0.198000	0.10333	-0.266000	0.10368	GGA		0.453	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2				10	92	0	0	0	1	0	10	92		
PAPD4	167153	broad.mit.edu	37	5	78944941	78944941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:78944941C>T	ENST00000296783.3	+	11	1254	c.955C>T	c.(955-957)Cag>Tag	p.Q319*	PAPD4_ENST00000453514.1_Nonsense_Mutation_p.Q319*|PAPD4_ENST00000504233.1_Intron|PAPD4_ENST00000428308.2_Nonsense_Mutation_p.Q319*|PAPD4_ENST00000423041.2_Nonsense_Mutation_p.Q315*			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	319					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AAGTCACCATCAGATAAATGA	0.358																																						uc010jae.1		NaN																	0				ovary(1)	1						c.(955-957)CAG>TAG		PAP associated domain containing 4							142.0	134.0	137.0					5																	78944941		2203	4300	6503	SO:0001587	stop_gained	167153				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	g.chr5:78944941C>T	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.955C>T	5.37:g.78944941C>T	ENSP00000296783:p.Gln319*					PAPD4_uc003kgb.2_Nonsense_Mutation_p.Q319*|PAPD4_uc010jaf.1_Nonsense_Mutation_p.Q319*|PAPD4_uc003kga.2_Nonsense_Mutation_p.Q315*|PAPD4_uc003kfz.2_Intron	p.Q319*	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)	11	1373	+		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)	319					Q86WZ2|Q8N927	Nonsense_Mutation	SNP	ENST00000296783.3	37	c.955C>T	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	C	41	8.649893	0.98899	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000428308;ENST00000296783	.	.	.	5.86	4.99	0.66335	.	0.805988	0.12255	N	0.485293	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	0.2113	16.1193	0.81336	0.0:0.1502:0.8498:0.0	.	.	.	.	X	319;315;319;319	.	ENSP00000296783:Q319X	Q	+	1	0	PAPD4	78980697	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	2.400000	0.44504	1.480000	0.48289	0.585000	0.79938	CAG		0.358	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1		NM_173797		10	26	0	0	0	1	0	10	26		
ZFYVE16	9765	broad.mit.edu	37	5	79733262	79733262	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:79733262C>A	ENST00000338008.5	+	3	938	c.758C>A	c.(757-759)tCc>tAc	p.S253Y	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S253Y|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S253Y	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	253					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CGACAAAGTTCCAAAATGTTT	0.343																																					Melanoma(150;1452 1854 16018 17851 37292)	uc003kgr.3		NaN																	0					0						c.(757-759)TCC>TAC		zinc finger, FYVE domain containing 16							57.0	61.0	59.0					5																	79733262		2201	4298	6499	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79733262C>A	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.758C>A	5.37:g.79733262C>A	ENSP00000337159:p.Ser253Tyr					ZFYVE16_uc010jak.1_Missense_Mutation_p.S253Y|ZFYVE16_uc003kgp.2_Missense_Mutation_p.S253Y|ZFYVE16_uc003kgq.3_Missense_Mutation_p.S253Y|ZFYVE16_uc003kgs.3_Missense_Mutation_p.S253Y	p.S253Y	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	4	1060	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	253					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.758C>A	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503834	0.26949	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.57595	0.39;0.39;0.39	5.09	2.21	0.28008	.	0.255114	0.28187	N	0.016274	T	0.57961	0.2089	L	0.36672	1.1	0.09310	N	0.99999	B;D	0.89917	0.253;1.0	B;D	0.69307	0.105;0.963	T	0.50625	-0.8806	10	0.66056	D	0.02	-0.4999	9.7985	0.40751	0.148:0.5664:0.2857:0.0	.	253;253	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	Y	253	ENSP00000337159:S253Y;ENSP00000423663:S253Y;ENSP00000426848:S253Y	ENSP00000337159:S253Y	S	+	2	0	ZFYVE16	79769018	0.001000	0.12720	0.005000	0.12908	0.475000	0.33008	0.584000	0.23864	0.216000	0.20781	0.467000	0.42956	TCC		0.343	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2		NM_014733		26	67	1	0	2.27525e-19	1	2.39063e-19	26	67		
ZFYVE16	9765	broad.mit.edu	37	5	79734015	79734015	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:79734015C>G	ENST00000338008.5	+	3	1691	c.1511C>G	c.(1510-1512)tCa>tGa	p.S504*	ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.S504*|ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.S504*	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	504					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AATACTTTTTCAAGCAATGAT	0.403																																					Melanoma(150;1452 1854 16018 17851 37292)	uc003kgr.3		NaN																	0					0						c.(1510-1512)TCA>TGA		zinc finger, FYVE domain containing 16							78.0	81.0	80.0					5																	79734015		2197	4299	6496	SO:0001587	stop_gained	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79734015C>G	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.1511C>G	5.37:g.79734015C>G	ENSP00000337159:p.Ser504*					ZFYVE16_uc010jak.1_Nonsense_Mutation_p.S504*|ZFYVE16_uc003kgp.2_Nonsense_Mutation_p.S504*|ZFYVE16_uc003kgq.3_Nonsense_Mutation_p.S504*|ZFYVE16_uc003kgs.3_Nonsense_Mutation_p.S504*	p.S504*	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	4	1813	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	504					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Nonsense_Mutation	SNP	ENST00000338008.5	37	c.1511C>G	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949867	0.73787	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	.	.	.	5.52	0.413	0.16401	.	0.881159	0.09731	N	0.763170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	0.0017	5.0576	0.14540	0.1301:0.4907:0.0:0.3792	.	.	.	.	X	504	.	ENSP00000337159:S504X	S	+	2	0	ZFYVE16	79769771	0.180000	0.23148	0.081000	0.20488	0.461000	0.32589	0.284000	0.18864	-0.140000	0.11394	-0.150000	0.13652	TCA		0.403	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2		NM_014733		26	53	0	0	0	1	0	26	53		
VCAN	1462	broad.mit.edu	37	5	82789485	82789485	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:82789485A>G	ENST00000265077.3	+	4	1131	c.566A>G	c.(565-567)tAt>tGt	p.Y189C	VCAN_ENST00000343200.5_Missense_Mutation_p.Y189C|VCAN_ENST00000513984.1_Missense_Mutation_p.Y189C|VCAN_ENST00000502527.2_Missense_Mutation_p.Y189C|VCAN_ENST00000342785.4_Missense_Mutation_p.Y189C|VCAN_ENST00000512590.2_Missense_Mutation_p.Y141C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	189	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTTGCTGCCTATGAAGATGGA	0.522																																						uc003kii.3		NaN																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(565-567)TAT>TGT		versican isoform 1 precursor							104.0	101.0	102.0					5																	82789485		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82789485A>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.566A>G	5.37:g.82789485A>G	ENSP00000265077:p.Tyr189Cys					VCAN_uc003kij.3_Missense_Mutation_p.Y189C|VCAN_uc010jau.2_Missense_Mutation_p.Y189C|VCAN_uc003kik.3_Missense_Mutation_p.Y189C|VCAN_uc003kih.3_Missense_Mutation_p.Y189C	p.Y189C	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	4	922	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	189			Link 1.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.566A>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.917190	0.73098	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.09445	2.98;2.98;2.98;2.98;2.98;2.98;2.98	5.68	5.68	0.88126	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.53938	D	0.000041	T	0.43100	0.1232	M	0.91972	3.26	0.52099	D	0.999949	D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.983;0.999;0.999;1.0	T	0.54180	-0.8332	10	0.87932	D	0	.	16.2119	0.82168	1.0:0.0:0.0:0.0	.	189;189;189;189;189	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	C	189;189;189;141;189;189;189	ENSP00000265077:Y189C;ENSP00000340062:Y189C;ENSP00000342768:Y189C;ENSP00000425959:Y141C;ENSP00000426251:Y189C;ENSP00000426715:Y189C;ENSP00000421362:Y189C	ENSP00000265077:Y189C	Y	+	2	0	VCAN	82825241	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.209000	0.51122	2.288000	0.76882	0.482000	0.46254	TAT		0.522	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385		30	79	0	0	0	1	0	30	79		
EDIL3	10085	broad.mit.edu	37	5	83239311	83239311	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:83239311C>T	ENST00000296591.5	-	11	1788	c.1370G>A	c.(1369-1371)aGa>aAa	p.R457K	EDIL3_ENST00000380138.3_Missense_Mutation_p.R447K	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	457	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AGGAAGGATTCTTATGTGTCG	0.468																																						uc003kio.1		NaN																	0				skin(2)	2						c.(1369-1371)AGA>AAA		EGF-like repeats and discoidin I-like							161.0	147.0	152.0					5																	83239311		2203	4300	6503	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83239311C>T	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1370G>A	5.37:g.83239311C>T	ENSP00000296591:p.Arg457Lys					EDIL3_uc003kip.1_Missense_Mutation_p.R447K	p.R457K	NM_005711	NP_005702	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	11	1789	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	457			F5/8 type C 2.		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.1370G>A	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150755	0.94645	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.99709	-6.48;-6.48	5.69	5.69	0.88448	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	M	0.85462	2.755	0.80722	D	1	P;D	0.76494	0.938;0.999	D;D	0.78314	0.921;0.991	D	0.97807	1.0248	10	0.87932	D	0	-29.9808	19.8154	0.96566	0.0:1.0:0.0:0.0	.	447;457	O43854-2;O43854	.;EDIL3_HUMAN	K	457;447	ENSP00000296591:R457K;ENSP00000369483:R447K	ENSP00000296591:R457K	R	-	2	0	EDIL3	83275067	1.000000	0.71417	0.977000	0.42913	0.997000	0.91878	7.398000	0.79919	2.699000	0.92147	0.655000	0.94253	AGA		0.468	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1		NM_005711		11	42	0	0	0	1	0	11	42		
SPATA9	83890	broad.mit.edu	37	5	95011140	95011140	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:95011140C>T	ENST00000274432.8	-	3	495	c.354G>A	c.(352-354)ccG>ccA	p.P118P	SPATA9_ENST00000395899.3_Silent_p.P118P|RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	118					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		GGGGTTGCCTCGGCGCATTAA	0.408																																						uc003klj.1		NaN																	0					0						c.(352-354)CCG>CCA		spermatogenesis associated 9							84.0	75.0	78.0					5																	95011140		2203	4300	6503	SO:0001819	synonymous_variant	83890				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr5:95011140C>T	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.354G>A	5.37:g.95011140C>T						SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_Intron	p.P118P	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN		all cancers(79;8.91e-16)	3	510	-		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)	118					A8K8H3|Q4G122|Q86X33|Q8NA28	Silent	SNP	ENST00000274432.8	37	c.354G>A	CCDS4076.1																																																																																				0.408	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1		NM_031952		20	40	0	0	0	1	0	20	40		
RGMB	285704	broad.mit.edu	37	5	98129101	98129101	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:98129101G>A	ENST00000513185.1	+	3	1394	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	RGMB_ENST00000308234.7_Missense_Mutation_p.E361K			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	320					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CCCCCTGAGTGAACGCATCGA	0.637																																						uc003knc.2		NaN																	0					0						c.(1081-1083)GAA>AAA		RGM domain family, member B							35.0	36.0	36.0					5																	98129101		2131	4230	6361	SO:0001583	missense	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98129101G>A	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.958G>A	5.37:g.98129101G>A	ENSP00000423256:p.Glu320Lys						p.E361K	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	5	1483	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	320					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.1081G>A		.	.	.	.	.	.	.	.	.	.	G	21.4	4.147629	0.77888	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.85773	-2.03;-2.03	5.62	5.62	0.85841	Repulsive guidance molecule, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93019	0.7778	M	0.80422	2.495	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.93325	0.6696	10	0.72032	D	0.01	-17.6673	19.6397	0.95753	0.0:0.0:1.0:0.0	.	320	Q6NW40	RGMB_HUMAN	K	361;320	ENSP00000308219:E361K;ENSP00000423256:E320K	ENSP00000308219:E361K	E	+	1	0	RGMB	98157001	1.000000	0.71417	0.996000	0.52242	0.726000	0.41606	3.355000	0.52262	2.635000	0.89317	0.655000	0.94253	GAA		0.637	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1		NM_173670		4	20	0	0	0	1	0	4	20		
MARCH3	115123	broad.mit.edu	37	5	126214081	126214081	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:126214081C>T	ENST00000308660.5	-	4	913	c.399G>A	c.(397-399)ctG>ctA	p.L133L		NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	133					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		CAGGGTTTCTCAGCCACTGCC	0.547																																						uc003kuf.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(397-399)CTG>CTA		membrane-associated ring finger (C3HC4) 3							37.0	30.0	32.0					5																	126214081		2203	4300	6503	SO:0001819	synonymous_variant	115123				endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding	g.chr5:126214081C>T	AF055007	CCDS4141.1	5q23.2	2013-01-09	2012-02-23		ENSG00000173926	ENSG00000173926		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28728	protein-coding gene	gene with protein product		613333	"""membrane-associated ring finger (C3HC4) 3"""			14722266, 8619474	Standard	NM_178450		Approved	MGC48332, MARCH-III, RNF173	uc003kuf.4	Q86UD3	OTTHUMG00000128968	ENST00000308660.5:c.399G>A	5.37:g.126214081C>T							p.L133L	NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)	4	854	-		Prostate(80;0.0928)	133					A8K264|B9EJE7	Silent	SNP	ENST00000308660.5	37	c.399G>A	CCDS4141.1																																																																																				0.547	MARCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250955.2		NM_178450		4	10	0	0	0	1	0	4	10		
AFF4	27125	broad.mit.edu	37	5	132270153	132270153	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:132270153G>A	ENST00000265343.5	-	3	983	c.604C>T	c.(604-606)Cac>Tac	p.H202Y	AFF4_ENST00000378595.3_Missense_Mutation_p.H202Y|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	202	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGCTATGGTGATCATTCCCA	0.488																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2		NaN																	0				ovary(2)|kidney(2)|skin(1)	5						c.(604-606)CAC>TAC		ALL1 fused gene from 5q31							113.0	108.0	110.0					5																	132270153		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132270153G>A	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.604C>T	5.37:g.132270153G>A	ENSP00000265343:p.His202Tyr					AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.H202Y|AFF4_uc003kyf.3_Missense_Mutation_p.H202Y	p.H202Y	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	1012	-		all_cancers(142;0.145)|Breast(839;0.198)	202			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.604C>T	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376985	0.82682	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.64260	-0.09;-0.09	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	L	0.60455	1.87	0.58432	D	0.999998	D;D;D	0.67145	0.962;0.996;0.991	D;D;D	0.76575	0.946;0.986;0.988	T	0.77600	-0.2527	10	0.59425	D	0.04	-8.8547	19.876	0.96870	0.0:0.0:1.0:0.0	.	202;202;202	Q9UHB7-3;Q9UHB7-2;Q9UHB7	.;.;AFF4_HUMAN	Y	202	ENSP00000265343:H202Y;ENSP00000367858:H202Y	ENSP00000265343:H202Y	H	-	1	0	AFF4	132298052	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.673000	0.68109	2.704000	0.92352	0.557000	0.71058	CAC		0.488	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1		NM_014423		21	73	0	0	0	1	0	21	73		
PCDHB8	56128	broad.mit.edu	37	5	140558545	140558545	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:140558545C>T	ENST00000239444.2	+	1	1175	c.930C>T	c.(928-930)ttC>ttT	p.F310F	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	310	Cadherin 3. {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)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTTGATTTCGAAAAATTTC	0.383																																						uc011dai.1		NaN																	0				skin(4)	4						c.(928-930)TTC>TTT		protocadherin beta 8 precursor							124.0	184.0	164.0					5																	140558545		2203	4300	6503	SO:0001819	synonymous_variant	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558545C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.930C>T	5.37:g.140558545C>T						PCDHB16_uc003liv.2_5'Flank	p.F310F	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1116	+			310			Cadherin 3.|Extracellular (Potential).		B9EGV1	Silent	SNP	ENST00000239444.2	37	c.930C>T	CCDS4250.1																																																																																				0.383	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2		NM_019120		32	275	0	0	0	1	0	32	275		
SLC25A2	83884	broad.mit.edu	37	5	140682702	140682702	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:140682702C>T	ENST00000239451.4	-	1	910	c.731G>A	c.(730-732)gGg>gAg	p.G244E		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	244					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TGCCTGTTTCCCATACATGGA	0.403																																						uc003ljf.2		NaN																	0				ovary(1)	1						c.(730-732)GGG>GAG		solute carrier family 25 member 2	L-Ornithine(DB00129)						81.0	77.0	79.0					5																	140682702		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140682702C>T	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.731G>A	5.37:g.140682702C>T	ENSP00000239451:p.Gly244Glu						p.G244E	NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	911	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	244			Helical; Name=6; (Potential).|Solcar 3.		Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.731G>A	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331271	0.60853	.	.	ENSG00000120329	ENST00000239451	T	0.78246	-1.16	3.79	3.79	0.43588	Mitochondrial carrier domain (2);	0.000000	0.85682	U	0.000000	D	0.87172	0.6111	M	0.84683	2.71	0.80722	D	1	D	0.60160	0.987	D	0.66497	0.944	D	0.87095	0.2175	10	0.38643	T	0.18	-12.0738	13.9579	0.64162	0.0:1.0:0.0:0.0	.	244	Q9BXI2	ORNT2_HUMAN	E	244	ENSP00000239451:G244E	ENSP00000239451:G244E	G	-	2	0	SLC25A2	140662886	1.000000	0.71417	0.995000	0.50966	0.495000	0.33615	4.937000	0.63513	2.429000	0.82318	0.655000	0.94253	GGG		0.403	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2		NM_031947		23	51	0	0	0	1	0	23	51		
KCTD16	57528	broad.mit.edu	37	5	143853407	143853407	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:143853407C>G	ENST00000507359.3	+	3	2108	c.1017C>G	c.(1015-1017)atC>atG	p.I339M	KCTD16_ENST00000512467.1_Missense_Mutation_p.I339M	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	339					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AGACCAACATCCAGACTCTGG	0.582																																						uc003lnm.1		NaN																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1015-1017)ATC>ATG		potassium channel tetramerisation domain							84.0	80.0	81.0					5																	143853407		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143853407C>G	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1017C>G	5.37:g.143853407C>G	ENSP00000426548:p.Ile339Met					KCTD16_uc003lnn.1_Missense_Mutation_p.I339M	p.I339M	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		4	1646	+		all_hematologic(541;0.118)	339					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.1017C>G	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792276	0.50102	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.47528	0.84;0.84	6.17	5.3	0.74995	.	0.137530	0.49305	D	0.000144	T	0.34424	0.0897	N	0.24115	0.695	0.34300	D	0.684224	P	0.48911	0.917	B	0.43478	0.421	T	0.50389	-0.8834	10	0.66056	D	0.02	.	8.5617	0.33514	0.2637:0.6668:0.0:0.0695	.	339	Q68DU8	KCD16_HUMAN	M	339	ENSP00000424151:I339M;ENSP00000426548:I339M	ENSP00000426548:I339M	I	+	3	3	KCTD16	143833600	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.989000	0.29629	2.941000	0.99782	0.655000	0.94253	ATC		0.582	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3		XM_098368		19	63	0	0	0	1	0	19	63		
FAT2	2196	broad.mit.edu	37	5	150924410	150924410	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:150924410G>T	ENST00000261800.5	-	9	6290	c.6278C>A	c.(6277-6279)tCt>tAt	p.S2093Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2093	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCAGTGGCAGATACCTGAAA	0.443																																						uc003lue.3		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(6277-6279)TCT>TAT		FAT tumor suppressor 2 precursor							121.0	125.0	123.0					5																	150924410		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924410G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6278C>A	5.37:g.150924410G>T	ENSP00000261800:p.Ser2093Tyr					GM2A_uc011dcs.1_Intron	p.S2093Y	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6291	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2093			Extracellular (Potential).|Cadherin 18.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6278C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545428	0.65198	.	.	ENSG00000086570	ENST00000261800	T	0.53423	0.62	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000014	T	0.69233	0.3088	M	0.70842	2.15	0.45806	D	0.998689	D	0.76494	0.999	D	0.77004	0.989	T	0.66760	-0.5842	10	0.40728	T	0.16	.	19.6811	0.95964	0.0:0.0:1.0:0.0	.	2093	Q9NYQ8	FAT2_HUMAN	Y	2093	ENSP00000261800:S2093Y	ENSP00000261800:S2093Y	S	-	2	0	FAT2	150904603	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	4.559000	0.60796	2.658000	0.90341	0.561000	0.74099	TCT		0.443	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447		36	100	1	0	8.16277e-20	1	8.59414e-20	36	100		
THG1L	54974	broad.mit.edu	37	5	157161651	157161651	+	Missense_Mutation	SNP	G	G	A	rs78234336		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:157161651G>A	ENST00000231198.7	+	3	680	c.436G>A	c.(436-438)Gag>Aag	p.E146K	AC026407.1_ENST00000599823.1_Silent_p.L25L	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	146					protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATTACTTTGAGGACCAGCC	0.502																																						uc003lxd.2		NaN																	0					0						c.(436-438)GAG>AAG		interphase cytoplasmic foci protein 45							125.0	121.0	122.0					5																	157161651		2203	4300	6503	SO:0001583	missense	54974				protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity	g.chr5:157161651G>A	AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"""interphase cytoplasmic foci protein 45"""					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.436G>A	5.37:g.157161651G>A	ENSP00000231198:p.Glu146Lys					THG1L_uc011ddu.1_Intron	p.E146K	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	562	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	146					D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Missense_Mutation	SNP	ENST00000231198.7	37	c.436G>A	CCDS4341.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907444	0.52333	.	.	ENSG00000113272	ENST00000231198;ENST00000448153	T	0.42513	0.97	5.95	2.72	0.32119	.	0.387974	0.34200	N	0.004179	T	0.16727	0.0402	N	0.05230	-0.09	0.35453	D	0.795829	B	0.02656	0.0	B	0.04013	0.001	T	0.08229	-1.0732	10	0.21540	T	0.41	-13.8225	3.3643	0.07198	0.4401:0.2065:0.3534:0.0	.	146	Q9NWX6	THG1_HUMAN	K	146;21	ENSP00000231198:E146K	ENSP00000231198:E146K	E	+	1	0	THG1L	157094229	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.271000	0.51608	0.786000	0.33708	-0.355000	0.07637	GAG		0.502	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252579.2		NM_017872		25	87	0	0	0	1	0	25	87		
TENM2	57451	broad.mit.edu	37	5	167689355	167689355	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:167689355T>C	ENST00000518659.1	+	29	7904	c.7865T>C	c.(7864-7866)gTg>gCg	p.V2622A	TENM2_ENST00000519204.1_Missense_Mutation_p.V2501A|TENM2_ENST00000520394.1_Missense_Mutation_p.V2383A|TENM2_ENST00000403607.2_Missense_Mutation_p.V2446A|TENM2_ENST00000545108.1_Missense_Mutation_p.V2621A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2622					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CACTACTTTGTGAAGATTGGC	0.592																																						uc010jjd.2		NaN																	0				ovary(6)|central_nervous_system(4)	10						c.(7837-7839)GTG>GCG		odz, odd Oz/ten-m homolog 2							37.0	41.0	40.0					5																	167689355		2148	4253	6401	SO:0001583	missense	57451							g.chr5:167689355T>C	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7865T>C	5.37:g.167689355T>C	ENSP00000429430:p.Val2622Ala					ODZ2_uc003lzr.3_Missense_Mutation_p.V2383A|ODZ2_uc003lzt.3_Missense_Mutation_p.V1986A|ODZ2_uc010jje.2_Missense_Mutation_p.V1877A	p.V2613A	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	29	7838	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.7838T>C		.	.	.	.	.	.	.	.	.	.	T	19.41	3.822091	0.71028	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.91996	-2.48;-2.47;-2.6;-2.94;-2.95	5.14	5.14	0.70334	.	0.113535	0.64402	D	0.000012	D	0.94085	0.8104	L	0.47190	1.495	0.58432	D	0.999998	D;D;P	0.58268	0.982;0.97;0.954	P;P;D	0.67900	0.889;0.777;0.954	D	0.94797	0.7967	10	0.87932	D	0	.	15.2346	0.73419	0.0:0.0:0.0:1.0	.	2621;2622;2383	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	A	2622;2621;2501;2383;2446	ENSP00000429430:V2622A;ENSP00000438635:V2621A;ENSP00000428964:V2501A;ENSP00000427874:V2383A;ENSP00000384905:V2446A	ENSP00000384905:V2446A	V	+	2	0	ODZ2	167621933	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.993000	0.88291	2.061000	0.61500	0.459000	0.35465	GTG		0.592	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679		5	10	0	0	0	1	0	5	10		
UIMC1	51720	broad.mit.edu	37	5	176396246	176396246	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:176396246G>C	ENST00000377227.4	-	6	642	c.510C>G	c.(508-510)atC>atG	p.I170M	UIMC1_ENST00000377219.2_Missense_Mutation_p.I170M|UIMC1_ENST00000503273.1_5'Flank|UIMC1_ENST00000506128.1_Missense_Mutation_p.I170M|UIMC1_ENST00000511320.1_Missense_Mutation_p.I170M			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	170	Necessary for interaction with NR6A1 N- terminus.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCCTGACTGATATGTGAGC	0.483																																						uc011dfp.1		NaN																	0				ovary(3)|skin(1)	4						c.(508-510)ATC>ATG		ubiquitin interaction motif containing 1							89.0	91.0	90.0					5																	176396246		2203	4300	6503	SO:0001583	missense	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176396246G>C	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.510C>G	5.37:g.176396246G>C	ENSP00000366434:p.Ile170Met					UIMC1_uc003mfc.1_Missense_Mutation_p.I47M|UIMC1_uc003mfd.1_Intron|UIMC1_uc003mfg.1_Intron|UIMC1_uc003mff.1_Intron	p.I170M	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	677	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	170			Necessary for interaction with NR6A1 N- terminus.		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	c.510C>G	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.431125	0.25726	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000377220	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.96	3.01	0.34805	.	0.771616	0.12170	N	0.493137	T	0.30198	0.0757	L	0.44542	1.39	0.25035	N	0.991243	P;P	0.46220	0.773;0.874	B;P	0.45610	0.366;0.487	T	0.07888	-1.0749	10	0.42905	T	0.14	0.3036	9.1336	0.36861	0.07:0.0:0.6527:0.2773	.	170;92	Q96RL1;Q96RL1-3	UIMC1_HUMAN;.	M	170;170;170;170;92	ENSP00000366434:I170M;ENSP00000366425:I170M;ENSP00000421926:I170M;ENSP00000427480:I170M	ENSP00000366425:I170M	I	-	3	3	UIMC1	176328852	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.389000	0.44407	1.457000	0.47850	0.655000	0.94253	ATC		0.483	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1		NM_016290		9	107	0	0	0	1	0	9	107		
PHYKPL	85007	broad.mit.edu	37	5	177658513	177658513	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:177658513C>G	ENST00000308158.5	-	2	305	c.71G>C	c.(70-72)aGa>aCa	p.R24T	PHYKPL_ENST00000476170.2_Missense_Mutation_p.R24T|PHYKPL_ENST00000481811.1_5'Flank	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	24						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	AAAAAAGAGTCTGCAGGAAGA	0.547																																						uc003miz.2		NaN																	0				pancreas(1)	1						c.(70-72)AGA>ACA		alanine-glyoxylate aminotransferase 2-like 2	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						123.0	115.0	118.0					5																	177658513		2203	4300	6503	SO:0001583	missense	85007					mitochondrion	pyridoxal phosphate binding|transaminase activity	g.chr5:177658513C>G	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.71G>C	5.37:g.177658513C>G	ENSP00000310978:p.Arg24Thr					AGXT2L2_uc003mjc.2_5'UTR|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_5'UTR	p.R24T	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	2	323	-	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	24					A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.71G>C	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339322	0.60963	.	.	ENSG00000175309	ENST00000308158;ENST00000476170	T;T	0.19938	2.11;2.11	4.77	4.77	0.60923	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);	0.053037	0.64402	D	0.000001	T	0.16727	0.0402	L	0.48642	1.525	0.47153	D	0.999339	B	0.06786	0.001	B	0.06405	0.002	T	0.06250	-1.0837	10	0.15066	T	0.55	0.031	9.3415	0.38082	0.0:0.9009:0.0:0.0991	.	24	Q8IUZ5	AT2L2_HUMAN	T	24	ENSP00000310978:R24T;ENSP00000421810:R24T	ENSP00000310978:R24T	R	-	2	0	AGXT2L2	177591119	0.876000	0.30132	1.000000	0.80357	0.991000	0.79684	0.892000	0.28322	2.355000	0.79922	0.655000	0.94253	AGA		0.547	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1		NM_032921		32	94	0	0	0	1	0	32	94		
C5orf45	51149	broad.mit.edu	37	5	179264605	179264605	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:179264605C>G	ENST00000292586.6	-	7	908	c.818G>C	c.(817-819)aGa>aCa	p.R273T	SQSTM1_ENST00000376929.3_3'UTR|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.R218T|C5orf45_ENST00000523084.1_Missense_Mutation_p.R139T|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000403396.2_Intron	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	273										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GAGGCCTTCTCTTGAGGCCTG	0.632																																						uc003mla.2		NaN																	0					0						c.(817-819)AGA>ACA		hypothetical protein LOC51149 isoform 1							64.0	68.0	66.0					5																	179264605		2203	4300	6503	SO:0001583	missense	51149							g.chr5:179264605C>G		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.818G>C	5.37:g.179264605C>G	ENSP00000292586:p.Arg273Thr					SQSTM1_uc011dgr.1_3'UTR|SQSTM1_uc011dgs.1_3'UTR|SQSTM1_uc003mkw.3_3'UTR|SQSTM1_uc003mkx.2_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.2_Missense_Mutation_p.R218T|C5orf45_uc003mlb.2_Missense_Mutation_p.R139T	p.R273T	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN			7	862	-			273					B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Missense_Mutation	SNP	ENST00000292586.6	37	c.818G>C	CCDS34319.1	.	.	.	.	.	.	.	.	.	.	C	9.381	1.072945	0.20147	.	.	ENSG00000161010	ENST00000376931;ENST00000523084;ENST00000292586	T;T;T	0.07688	3.17;3.17;3.17	3.97	-3.89	0.04193	.	1.169770	0.06277	N	0.696652	T	0.06050	0.0157	L	0.51422	1.61	0.09310	N	1	B;B	0.33238	0.403;0.144	B;B	0.25405	0.06;0.06	T	0.40534	-0.9558	10	0.12766	T	0.61	-0.4813	5.5791	0.17241	0.1471:0.2797:0.0:0.5732	.	218;273	E9PAK6;Q6NTE8	.;CE045_HUMAN	T	218;139;273	ENSP00000366130:R218T;ENSP00000429107:R139T;ENSP00000292586:R273T	ENSP00000292586:R273T	R	-	2	0	C5orf45	179197211	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.322000	0.02695	-0.867000	0.04063	-0.424000	0.05967	AGA		0.632	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2		NM_016175		31	64	0	0	0	1	0	31	64		
PXDC1	221749	broad.mit.edu	37	6	3723966	3723966	+	Missense_Mutation	SNP	C	C	G	rs200793898		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:3723966C>G	ENST00000380283.4	-	5	1077	c.583G>C	c.(583-585)Gag>Cag	p.E195Q	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	195							phosphatidylinositol binding (GO:0035091)										CTGCCATTCTCAAATCTGAAA	0.537																																						uc003mvt.2		NaN																	0				breast(1)	1						c.(583-585)GAG>CAG		hypothetical protein LOC221749							87.0	84.0	85.0					6																	3723966		2203	4300	6503	SO:0001583	missense	221749				cell communication		phosphatidylinositol binding	g.chr6:3723966C>G	AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 145"""	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.583G>C	6.37:g.3723966C>G	ENSP00000369636:p.Glu195Gln						p.E195Q	NM_183373	NP_899229	Q5TGL8	CF145_HUMAN			5	1064	-	Ovarian(93;0.0925)	all_hematologic(90;0.108)	195					A8K0N3|Q6PGP0|Q86XB7	Missense_Mutation	SNP	ENST00000380283.4	37	c.583G>C	CCDS4486.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.85|18.85	3.710612|3.710612	0.68730|0.68730	.|.	.|.	ENSG00000168994|ENSG00000168994	ENST00000380283|ENST00000380277	T|.	0.37235|.	1.21|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.235220|.	0.44902|.	D|.	0.000410|.	T|T	0.61261|0.61261	0.2333|0.2333	L|L	0.48642|0.48642	1.525|1.525	0.58432|0.58432	D|D	0.999997|0.999997	P|.	0.40250|.	0.709|.	B|.	0.37943|.	0.261|.	T|T	0.57130|0.57130	-0.7864|-0.7864	10|5	0.51188|.	T|.	0.08|.	-32.5024|-32.5024	18.5146|18.5146	0.90931|0.90931	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	195|.	Q5TGL8|.	CF145_HUMAN|.	Q|F	195|142	ENSP00000369636:E195Q|.	ENSP00000369636:E195Q|.	E|L	-|-	1|3	0|2	C6orf145|C6orf145	3668965|3668965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.798000|0.798000	0.45092|0.45092	6.688000|6.688000	0.74557|0.74557	2.662000|2.662000	0.90505|0.90505	0.555000|0.555000	0.69702|0.69702	GAG|TTG		0.537	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1		NM_183373		16	41	0	0	0	1	0	16	41		
KDM1B	221656	broad.mit.edu	37	6	18160153	18160153	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:18160153G>C	ENST00000297792.5	+	3	204	c.27G>C	c.(25-27)aaG>aaC	p.K9N	KDM1B_ENST00000388870.2_Missense_Mutation_p.K9N|KDM1B_ENST00000397244.1_Missense_Mutation_p.K9N|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	9					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GGAGGACAAAGAAAAAAGCAT	0.378																																						uc003ncn.1		NaN																	0				skin(1)	1						c.(25-27)AAG>AAC		amine oxidase (flavin containing) domain 1							76.0	69.0	71.0					6																	18160153		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18160153G>C	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.27G>C	6.37:g.18160153G>C	ENSP00000297792:p.Lys9Asn						p.K9N	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			3	268	+			9					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.27G>C	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746002	0.30955	.	.	ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	T;T;T	0.35236	1.39;1.32;1.32	4.75	2.74	0.32292	.	0.614812	0.15350	N	0.266993	T	0.37237	0.0996	L	0.51422	1.61	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.19257	-1.0311	10	0.72032	D	0.01	-2.5558	9.2477	0.37536	0.1829:0.0:0.8171:0.0	.	9	A2A2C6	.	N	9	ENSP00000373522:K9N;ENSP00000380419:K9N;ENSP00000297792:K9N	ENSP00000297792:K9N	K	+	3	2	KDM1B	18268132	1.000000	0.71417	0.975000	0.42487	0.457000	0.32468	1.725000	0.38074	0.410000	0.25675	0.557000	0.71058	AAG		0.378	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1		NM_153042		6	22	0	0	0	1	0	6	22		
HIST1H2AD	3013	broad.mit.edu	37	6	26199400	26199400	+	Silent	SNP	G	G	C	rs150465023		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:26199400G>C	ENST00000341023.1	-	1	71	c.72C>G	c.(70-72)ctC>ctG	p.L24L	HIST1H3D_ENST00000377831.5_5'UTR|HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	24						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				CAGGGAACTGGAGTCCGGCCC	0.612																																						uc003ngw.2		NaN																	0					0						c.(70-72)CTC>CTG		histone cluster 1, H2ad		G	,	0,4406		0,0,2203	21.0	25.0	24.0		,72	-9.6	0.1	6	dbSNP_134	24	2,8598		0,2,4298	no	utr-5,coding-synonymous	HIST1H2AD,HIST1H3D	NM_003530.3,NM_021065.2	,	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	,	,24/131	26199400	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3013				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26199400G>C	Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"""Histones / Replication-dependent"""	4729	protein-coding gene	gene with protein product		602792	"""H2A histone family, member G"", ""histone 1, H2ad"""	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.72C>G	6.37:g.26199400G>C						HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	p.L24L	NM_021065	NP_066409	P20671	H2A1D_HUMAN			1	72	-		all_hematologic(11;0.196)	24					A0PK91|P57754|Q6FGY6	Silent	SNP	ENST00000341023.1	37	c.72C>G	CCDS4591.1																																																																																				0.612	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040100.1		NM_021065		17	31	0	0	0	1	0	17	31		
ZNF184	7738	broad.mit.edu	37	6	27419547	27419547	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:27419547C>T	ENST00000211936.6	-	6	2075	c.1791G>A	c.(1789-1791)caG>caA	p.Q597Q	ZNF184_ENST00000377419.1_Silent_p.Q597Q	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	597					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGTGTATGTTCTGGTTGAATG	0.433																																						uc003njj.2		NaN																	0				ovary(1)	1						c.(1789-1791)CAG>CAA		zinc finger protein 184							189.0	169.0	176.0					6																	27419547		2203	4300	6503	SO:0001819	synonymous_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419547C>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1791G>A	6.37:g.27419547C>T						ZNF184_uc010jqv.2_Silent_p.Q597Q|ZNF184_uc003nji.2_Silent_p.Q597Q	p.Q597Q	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	2602	-			597			C2H2-type 14.		B2R715|O60792|Q8TBA9	Silent	SNP	ENST00000211936.6	37	c.1791G>A	CCDS4624.1																																																																																				0.433	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1		NM_007149		29	69	0	0	0	1	0	29	69		
ZSCAN31	64288	broad.mit.edu	37	6	28295307	28295307	+	Missense_Mutation	SNP	G	G	A	rs532664988		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:28295307G>A	ENST00000414429.1	-	7	1288	c.385C>T	c.(385-387)Cca>Tca	p.P129S	ZSCAN31_ENST00000446474.1_5'UTR|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.P129S|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.P129S|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.P129S			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	129					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)										TCATGGTCTGGAGCCTGAAGG	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		21584	0.0		0.0	False		,,,				2504	0.001					uc003nla.2		NaN																	0				ovary(1)|skin(1)	2						c.(385-387)CCA>TCA		zinc finger protein 323							154.0	135.0	141.0					6																	28295307		2203	4300	6503	SO:0001583	missense	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28295307G>A		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.385C>T	6.37:g.28295307G>A	ENSP00000390076:p.Pro129Ser					ZNF323_uc003nld.2_Missense_Mutation_p.P129S|ZNF323_uc010jra.2_Missense_Mutation_p.P129S|ZNF323_uc003nlb.2_5'UTR|ZNF323_uc010jrb.2_5'UTR|ZNF323_uc003nlc.2_Missense_Mutation_p.P129S	p.P129S	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN			3	785	-			129					Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.385C>T	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	G	4.563	0.104529	0.08731	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000344279;ENST00000453745;ENST00000426434;ENST00000439636;ENST00000447021	T;T;T;T;T;T;T;T	0.65732	3.47;3.47;3.47;3.47;4.43;-0.17;4.36;4.14	3.51	1.37	0.22104	Transcription regulator SCAN (1);	.	.	.	.	T	0.16257	0.0391	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.27400	-1.0075	9	0.06494	T	0.89	.	3.5791	0.07945	0.1659:0.2601:0.5739:0.0	.	129	Q96LW9	ZN323_HUMAN	S	129;129;129;129;129;13;129;129	ENSP00000380050:P129S;ENSP00000413705:P129S;ENSP00000390076:P129S;ENSP00000345339:P129S;ENSP00000389479:P129S;ENSP00000398680:P13S;ENSP00000412519:P129S;ENSP00000416108:P129S	ENSP00000345339:P129S	P	-	1	0	ZNF323	28403286	0.011000	0.17503	0.021000	0.16686	0.005000	0.04900	0.183000	0.16919	0.739000	0.32628	0.467000	0.42956	CCA		0.423	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1		NM_030899		23	66	0	0	0	1	0	23	66		
HLA-E	3133	broad.mit.edu	37	6	30458229	30458229	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:30458229G>A	ENST00000376630.4	+	3	612	c.547G>A	c.(547-549)Gac>Aac	p.D183N		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	183	Alpha-2.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|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)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CTACCTGGAAGACACATGCGT	0.597																																						uc003nqg.2		NaN																	0				central_nervous_system(4)|ovary(1)	5						c.(547-549)GAC>AAC		major histocompatibility complex, class I, E							65.0	63.0	64.0					6																	30458229		1510	2709	4219	SO:0001583	missense	3133				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:30458229G>A	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.547G>A	6.37:g.30458229G>A	ENSP00000365817:p.Asp183Asn					HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Missense_Mutation_p.D224N	p.D183N	NM_005516	NP_005507	P13747	HLAE_HUMAN			3	585	+			183			Extracellular (Potential).|Alpha-2.		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	ENST00000376630.4	37	c.547G>A	CCDS34379.1	.	.	.	.	.	.	.	.	.	.	.	16.61	3.171269	0.57584	.	.	ENSG00000204592	ENST00000376630	T	0.00009	9.5	1.67	1.67	0.24075	.	1.502820	0.05220	U	0.508344	T	0.00039	0.0001	N	0.11845	0.185	0.09310	N	0.999999	P;D	0.60160	0.824;0.987	P;D	0.73380	0.454;0.98	T	0.37731	-0.9693	10	0.87932	D	0	.	6.7735	0.23607	0.0:0.0:1.0:0.0	.	224;183	E7ENN9;Q6DU44	.;.	N	183	ENSP00000365817:D183N	ENSP00000365817:D183N	D	+	1	0	HLA-E	30566208	0.002000	0.14202	0.367000	0.25926	0.031000	0.12232	-0.677000	0.05215	1.235000	0.43724	0.462000	0.41574	GAC		0.597	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2		NM_005516		20	42	0	0	0	1	0	20	42		
PRRC2A	7916	broad.mit.edu	37	6	31599733	31599733	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:31599733G>A	ENST00000376033.2	+	16	3517	c.3283G>A	c.(3283-3285)Gag>Aag	p.E1095K	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1095K	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1095	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TTCAGAGTATGAGGAAATCCC	0.637																																						uc003nvb.3		NaN																	0					0						c.(3283-3285)GAG>AAG		HLA-B associated transcript-2							34.0	43.0	40.0					6																	31599733		1508	2707	4215	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599733G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3283G>A	6.37:g.31599733G>A	ENSP00000365201:p.Glu1095Lys					BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.E1095K	p.E1095K	NM_080686	NP_542417	P48634	PRC2A_HUMAN			16	3532	+			1095			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.3283G>A	CCDS4708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.40|14.40	2.525432|2.525432	0.44969|0.44969	.|.	.|.	ENSG00000204469|ENSG00000204469	ENST00000376007;ENST00000376033;ENST00000376010|ENST00000424184;ENST00000435052	T;T|.	0.15487|.	2.42;2.42|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.000000|.	0.53938|.	D|.	0.000049|.	T|T	0.67031|0.67031	0.2850|0.2850	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999991|0.999991	D|.	0.69078|.	0.997|.	D|.	0.75020|.	0.985|.	T|T	0.70894|0.70894	-0.4748|-0.4748	10|6	0.87932|0.87932	D|D	0|0	-13.0898|-13.0898	16.9681|16.9681	0.86291|0.86291	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1095|.	P48634|.	PRC2A_HUMAN|.	K|I	1095;1095;320|1093;1082	ENSP00000365175:E1095K;ENSP00000365201:E1095K|.	ENSP00000365175:E1095K|ENSP00000407986:M1093I	E|M	+|+	1|3	0|0	PRRC2A|PRRC2A	31707712|31707712	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.839000|0.839000	0.47603|0.47603	9.256000|9.256000	0.95535|0.95535	2.562000|2.562000	0.86427|0.86427	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.637	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1		NM_080686		5	25	0	0	0	1	0	5	25		
TNXB	7148	broad.mit.edu	37	6	32029210	32029210	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:32029210G>A	ENST00000375244.3	-	21	7657	c.7456C>T	c.(7456-7458)Cgg>Tgg	p.R2486W	TNXB_ENST00000375247.2_Missense_Mutation_p.R2486W			P22105	TENX_HUMAN	tenascin XB	2546	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCACGCGCCGCCCCTCGTGG	0.647																																						uc003nzl.2		NaN																	0					0						c.(7456-7458)CGG>TGG		tenascin XB isoform 1 precursor							104.0	120.0	115.0					6																	32029210		1315	2567	3882	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32029210G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7456C>T	6.37:g.32029210G>A	ENSP00000364393:p.Arg2486Trp						p.R2486W	NM_019105	NP_061978	P22105	TENX_HUMAN			21	7658	-			2546			Fibronectin type-III 17.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7456C>T		.	.	.	.	.	.	.	.	.	.	G	12.14	1.849156	0.32699	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04603	3.59;3.59	4.28	2.41	0.29592	.	0.747652	0.11920	N	0.516766	T	0.04182	0.0116	L	0.54323	1.7	0.09310	N	1	D	0.76494	0.999	P	0.57846	0.828	T	0.35375	-0.9791	10	0.66056	D	0.02	.	2.9097	0.05733	0.1003:0.1816:0.5306:0.1875	.	2486	P22105-3	.	W	2486	ENSP00000364393:R2486W;ENSP00000364396:R2486W	ENSP00000364393:R2486W	R	-	1	2	TNXB	32137188	0.002000	0.14202	0.001000	0.08648	0.114000	0.19823	1.141000	0.31528	0.383000	0.24910	0.591000	0.81541	CGG		0.647	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		37	84	0	0	0	1	0	37	84		
TNXB	7148	broad.mit.edu	37	6	32035515	32035515	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:32035515C>G	ENST00000375244.3	-	18	6668	c.6467G>C	c.(6466-6468)gGg>gCg	p.G2156A	TNXB_ENST00000375247.2_Missense_Mutation_p.G2156A			P22105	TENX_HUMAN	tenascin XB	2228	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTACTTGCGCCCAGGCTCCAG	0.677																																						uc003nzl.2		NaN																	0					0						c.(6466-6468)GGG>GCG		tenascin XB isoform 1 precursor							49.0	55.0	53.0					6																	32035515		1989	4150	6139	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32035515C>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6467G>C	6.37:g.32035515C>G	ENSP00000364393:p.Gly2156Ala						p.G2156A	NM_019105	NP_061978	P22105	TENX_HUMAN			18	6669	-			2228			Fibronectin type-III 14.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.6467G>C		.	.	.	.	.	.	.	.	.	.	C	12.40	1.926787	0.34002	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.62232	0.04;0.04	4.73	3.72	0.42706	.	0.825336	0.10383	N	0.681306	T	0.43853	0.1266	L	0.31926	0.97	0.09310	N	1	D	0.55385	0.971	P	0.55391	0.775	T	0.28459	-1.0043	10	0.35671	T	0.21	.	3.7037	0.08392	0.0:0.5757:0.2592:0.1651	.	2156	P22105-3	.	A	2156	ENSP00000364393:G2156A;ENSP00000364396:G2156A	ENSP00000364393:G2156A	G	-	2	0	TNXB	32143493	0.000000	0.05858	0.677000	0.29947	0.736000	0.42039	0.197000	0.17197	2.160000	0.67779	0.563000	0.77884	GGG		0.677	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		15	49	0	0	0	1	0	15	49		
ATF6B	1388	broad.mit.edu	37	6	32085730	32085730	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:32085730C>T	ENST00000375203.3	-	12	1362	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	ATF6B_ENST00000375201.4_Missense_Mutation_p.E441K	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	444					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GGCTCTTGCTCTGAGAACCCC	0.602																																						uc003nzn.2		NaN																	0					0						c.(1330-1332)GAG>AAG		activating transcription factor 6 beta isoform							52.0	52.0	52.0					6																	32085730		2203	4300	6503	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32085730C>T		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.1330G>A	6.37:g.32085730C>T	ENSP00000364349:p.Glu444Lys					TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_Missense_Mutation_p.E17K|ATF6B_uc003nzo.2_Missense_Mutation_p.E441K|ATF6B_uc003nzp.1_Missense_Mutation_p.E133K	p.E444K	NM_004381	NP_004372	Q99941	ATF6B_HUMAN			12	1363	-			444			Lumenal (Potential).		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.1330G>A	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422276	0.25639	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.56611	0.45;1.19	5.81	4.03	0.46877	.	1.053950	0.07488	U	0.905164	T	0.19967	0.0480	L	0.36672	1.1	0.28348	N	0.921017	B;B;B	0.26258	0.145;0.049;0.09	B;B;B	0.24394	0.053;0.022;0.024	T	0.23691	-1.0181	10	0.14252	T	0.57	-4.0915	8.9361	0.35700	0.0:0.8291:0.0:0.1709	.	441;444;444	Q99941-2;Q99941;Q6AZW6	.;ATF6B_HUMAN;.	K	444;441	ENSP00000364349:E444K;ENSP00000364347:E441K	ENSP00000364347:E441K	E	-	1	0	ATF6B	32193708	0.007000	0.16637	0.364000	0.25888	0.875000	0.50365	1.483000	0.35497	0.796000	0.33947	0.609000	0.83330	GAG		0.602	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2				13	19	0	0	0	1	0	13	19		
ITPR3	3710	broad.mit.edu	37	6	33648329	33648329	+	Intron	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:33648329C>G	ENST00000374316.5	+	34	5410				ITPR3_ENST00000605930.1_Intron			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3						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)	TCTCCTGCCTCAGGTCTGCAG	0.647																																						uc011drk.1		NaN																	0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(4348-4350)CGG>GGG		inositol 1,4,5-triphosphate receptor, type 3							60.0	54.0	56.0					6																	33648329		2203	4300	6503	SO:0001627	intron_variant	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.chr6:33648329C>G	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.4351-3C>G	6.37:g.33648329C>G							p.R1450G	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			33	4567	+			1450			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.4348C>G	CCDS4783.1																																																																																				0.647	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2		NM_002224		14	37	0	0	0	1	0	14	37		
ANKS1A	23294	broad.mit.edu	37	6	34985672	34985672	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:34985672G>A	ENST00000360359.3	+	11	1984	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	616					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACCCAAAGCTGAACTCAAACT	0.582																																						uc003ojx.3		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1846-1848)GAA>AAA		ankyrin repeat and sterile alpha motif domain							117.0	135.0	129.0					6																	34985672		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:34985672G>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1846G>A	6.37:g.34985672G>A	ENSP00000353518:p.Glu616Lys					ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.E156K|ANKS1A_uc010jvp.1_Intron	p.E616K	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			11	1988	+			616					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.1846G>A	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752256	0.89753	.	.	ENSG00000064999	ENST00000360359	T	0.40476	1.03	5.41	5.41	0.78517	.	0.000000	0.49916	D	0.000129	T	0.53029	0.1771	L	0.53249	1.67	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.39099	-0.9630	10	0.33940	T	0.23	-11.4814	19.5669	0.95397	0.0:0.0:1.0:0.0	.	616	Q92625	ANS1A_HUMAN	K	616	ENSP00000353518:E616K	ENSP00000353518:E616K	E	+	1	0	ANKS1A	35093650	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.319000	0.89992	2.694000	0.91930	0.655000	0.94253	GAA		0.582	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1		XM_166478		44	124	0	0	0	1	0	44	124		
CD2AP	23607	broad.mit.edu	37	6	47544302	47544302	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:47544302G>C	ENST00000359314.5	+	7	1228	c.772G>C	c.(772-774)Gag>Cag	p.E258Q		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	258					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TCAGAGTGTGGAGATAACAAA	0.303																																						uc003oyw.2		NaN																	0				ovary(1)|skin(1)	2						c.(772-774)GAG>CAG		CD2-associated protein							100.0	110.0	106.0					6																	47544302		2203	4298	6501	SO:0001583	missense	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47544302G>C	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.772G>C	6.37:g.47544302G>C	ENSP00000352264:p.Glu258Gln						p.E258Q	NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		7	1228	+			258					A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	c.772G>C	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413217	0.42817	.	.	ENSG00000198087	ENST00000359314	T	0.28666	1.6	6.08	6.08	0.98989	Src homology-3 domain (1);	3.139770	0.00710	N	0.000831	T	0.39226	0.1070	M	0.79258	2.445	0.44685	D	0.997676	P	0.36354	0.549	B	0.41374	0.355	T	0.47774	-0.9091	10	0.45353	T	0.12	-9.9669	18.4603	0.90736	0.0:0.0:1.0:0.0	.	258	Q9Y5K6	CD2AP_HUMAN	Q	258	ENSP00000352264:E258Q	ENSP00000352264:E258Q	E	+	1	0	CD2AP	47652261	1.000000	0.71417	0.484000	0.27391	0.016000	0.09150	5.848000	0.69458	2.894000	0.99253	0.591000	0.81541	GAG		0.303	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2				21	76	0	0	0	1	0	21	76		
CD2AP	23607	broad.mit.edu	37	6	47544789	47544789	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:47544789G>T	ENST00000359314.5	+	8	1309	c.853G>T	c.(853-855)Gaa>Taa	p.E285*		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	285	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGGTACTAATGAAGATGAACT	0.284																																						uc003oyw.2		NaN																	0				ovary(1)|skin(1)	2						c.(853-855)GAA>TAA		CD2-associated protein							100.0	110.0	106.0					6																	47544789		2202	4289	6491	SO:0001587	stop_gained	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47544789G>T	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.853G>T	6.37:g.47544789G>T	ENSP00000352264:p.Glu285*						p.E285*	NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		8	1309	+			285			SH3 3.		A6NL34|Q5VYA3|Q9UG97	Nonsense_Mutation	SNP	ENST00000359314.5	37	c.853G>T	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	42	9.517566	0.99193	.	.	ENSG00000198087	ENST00000359314	.	.	.	5.72	5.72	0.89469	.	0.150578	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-25.029	16.7877	0.85578	0.0:0.0:1.0:0.0	.	.	.	.	X	285	.	ENSP00000352264:E285X	E	+	1	0	CD2AP	47652748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.779000	0.68948	2.698000	0.92095	0.591000	0.81541	GAA		0.284	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2				11	113	1	0	3.83957e-06	1	3.91515e-06	11	113		
PKHD1	5314	broad.mit.edu	37	6	51497406	51497406	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:51497406C>T	ENST00000371117.3	-	65	11897	c.11622G>A	c.(11620-11622)ctG>ctA	p.L3874L		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3874					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCAGACAGCTCAGAGCCAGCC	0.438																																						uc003pah.1		NaN																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(11620-11622)CTG>CTA		fibrocystin isoform 1							87.0	81.0	84.0					6																	51497406		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51497406C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11622G>A	6.37:g.51497406C>T							p.L3874L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			65	11898	-	Lung NSC(77;0.0605)		3874			Helical; (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.11622G>A	CCDS4935.1																																																																																				0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694		14	43	0	0	0	1	0	14	43		
ZNF451	26036	broad.mit.edu	37	6	57012191	57012191	+	Silent	SNP	T	T	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:57012191T>C	ENST00000370706.4	+	10	1552	c.1308T>C	c.(1306-1308)tcT>tcC	p.S436S	RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000357489.3_Silent_p.S436S|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Silent_p.S436S	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTAAAGAATCTAGCTCACTGG	0.353																																						uc003pdm.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(1306-1308)TCT>TCC		zinc finger protein 451 isoform 1							47.0	51.0	50.0					6																	57012191		2203	4300	6503	SO:0001819	synonymous_variant	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57012191T>C	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1308T>C	6.37:g.57012191T>C						ZNF451_uc003pdl.2_Silent_p.S436S|ZNF451_uc003pdn.1_Silent_p.S436S|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.S436S	p.S436S	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	1532	+	Lung NSC(77;0.145)		436					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Silent	SNP	ENST00000370706.4	37	c.1308T>C	CCDS43477.1																																																																																				0.353	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2		NM_015555		18	56	0	0	0	1	0	18	56		
PHF3	23469	broad.mit.edu	37	6	64395407	64395407	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:64395407C>G	ENST00000262043.3	+	4	2124	c.1784C>G	c.(1783-1785)tCt>tGt	p.S595C	PHF3_ENST00000393387.1_Missense_Mutation_p.S595C|PHF3_ENST00000509330.1_Missense_Mutation_p.S595C			Q92576	PHF3_HUMAN	PHD finger protein 3	595					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTAACTCATTCTTTGAGTGAT	0.378																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(1783-1785)TCT>TGT		PHD finger protein 3							65.0	63.0	64.0					6																	64395407		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64395407C>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1784C>G	6.37:g.64395407C>G	ENSP00000262043:p.Ser595Cys					PHF3_uc010kaf.1_Missense_Mutation_p.S595C|PHF3_uc003pem.2_Missense_Mutation_p.S548C|PHF3_uc010kag.1_Missense_Mutation_p.S507C|PHF3_uc010kah.1_Missense_Mutation_p.S409C|PHF3_uc003pen.2_Missense_Mutation_p.S507C|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.S595C	p.S595C	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	1810	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		595					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.1784C>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.645362	0.00792	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.48201	2.11;1.8;2.14;1.81;0.82;2.14	5.77	3.94	0.45596	.	0.193172	0.25780	N	0.028359	T	0.23532	0.0569	L	0.50333	1.59	0.09310	N	1	B;B	0.21071	0.003;0.051	B;B	0.19391	0.005;0.025	T	0.24835	-1.0149	10	0.72032	D	0.01	-2.1802	10.6093	0.45412	0.2212:0.3568:0.4219:0.0	.	595;595	Q92576;D6R9X2	PHF3_HUMAN;.	C	409;507;595;548;595;595	ENSP00000424694:S409C;ENSP00000425227:S507C;ENSP00000262043:S595C;ENSP00000424078:S548C;ENSP00000422841:S595C;ENSP00000377048:S595C	ENSP00000262043:S595C	S	+	2	0	PHF3	64453366	0.001000	0.12720	0.208000	0.23602	0.165000	0.22458	0.195000	0.17155	0.735000	0.32537	0.591000	0.81541	TCT		0.378	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2				16	58	0	0	0	1	0	16	58		
BAI3	577	broad.mit.edu	37	6	69640534	69640534	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:69640534G>A	ENST00000370598.1	+	4	1662	c.841G>A	c.(841-843)Gat>Aat	p.D281N		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	281					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGAACAAGCTGATGCTGCTAA	0.333																																						uc003pev.3		NaN																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(841-843)GAT>AAT		brain-specific angiogenesis inhibitor 3							95.0	92.0	93.0					6																	69640534		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69640534G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.841G>A	6.37:g.69640534G>A	ENSP00000359630:p.Asp281Asn					BAI3_uc010kak.2_Missense_Mutation_p.D281N	p.D281N	NM_001704	NP_001695	O60242	BAI3_HUMAN			4	1289	+		all_lung(197;0.212)	281			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.841G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996661	0.54147	.	.	ENSG00000135298	ENST00000370598	T	0.20463	2.07	5.15	4.26	0.50523	.	0.341437	0.29737	N	0.011326	T	0.07279	0.0184	N	0.17082	0.46	0.80722	D	1	B	0.26400	0.148	B	0.24848	0.056	T	0.09378	-1.0677	10	0.56958	D	0.05	.	15.821	0.78644	0.0:0.1364:0.8636:0.0	.	281	O60242	BAI3_HUMAN	N	281	ENSP00000359630:D281N	ENSP00000359630:D281N	D	+	1	0	BAI3	69697255	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.361000	0.97122	1.252000	0.44001	0.585000	0.79938	GAT		0.333	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1				10	31	0	0	0	1	0	10	31		
B3GAT2	135152	broad.mit.edu	37	6	71665851	71665851	+	Missense_Mutation	SNP	C	C	G	rs9446312		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:71665851C>G	ENST00000230053.6	-	1	890	c.282G>C	c.(280-282)caG>caC	p.Q94H		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	94					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCTCCGCTTTCTGCACCGGGC	0.697																																						uc003pfv.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(280-282)CAG>CAC		beta-1,3-glucuronyltransferase 2							29.0	34.0	32.0					6																	71665851		2199	4297	6496	SO:0001583	missense	135152				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr6:71665851C>G	AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.282G>C	6.37:g.71665851C>G	ENSP00000230053:p.Gln94His					B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.Q94H	p.Q94H	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN			1	938	-			94			Lumenal (Potential).		Q5JS09|Q8TF38|Q96NK4	Missense_Mutation	SNP	ENST00000230053.6	37	c.282G>C	CCDS4974.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493126	0.84962	.	.	ENSG00000112309	ENST00000230053	T	0.56611	0.45	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.993	T	0.76658	-0.2878	10	0.66056	D	0.02	-18.9916	16.2429	0.82424	0.0:1.0:0.0:0.0	.	94;94	Q29RV3;Q9NPZ5	.;B3GA2_HUMAN	H	94	ENSP00000230053:Q94H	ENSP00000230053:Q94H	Q	-	3	2	B3GAT2	71722572	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	3.816000	0.55658	2.146000	0.66826	0.650000	0.86243	CAG		0.697	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2		NM_080742		18	32	0	0	0	1	0	18	32		
ANKRD6	22881	broad.mit.edu	37	6	90333717	90333717	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:90333717G>C	ENST00000522441.1	+	12	1800	c.1159G>C	c.(1159-1161)Gag>Cag	p.E387Q	ANKRD6_ENST00000447838.2_Missense_Mutation_p.E387Q|ANKRD6_ENST00000369408.5_Missense_Mutation_p.E352Q|ANKRD6_ENST00000520793.1_Missense_Mutation_p.E328Q|ANKRD6_ENST00000339746.4_Missense_Mutation_p.E387Q|LYRM2_ENST00000520441.1_Intron	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	387					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CCCACCCCATGAGTTCAGGGC	0.537																																						uc003pni.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(1159-1161)GAG>CAG		ankyrin repeat domain 6							63.0	66.0	65.0					6																	90333717		2036	4190	6226	SO:0001583	missense	22881						protein binding	g.chr6:90333717G>C	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1159G>C	6.37:g.90333717G>C	ENSP00000430985:p.Glu387Gln					ANKRD6_uc003pne.3_Missense_Mutation_p.E387Q|ANKRD6_uc003pnf.3_Missense_Mutation_p.E352Q|ANKRD6_uc011dzy.1_Missense_Mutation_p.E387Q|ANKRD6_uc010kcd.2_Missense_Mutation_p.E328Q|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_5'UTR	p.E387Q	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	12	1500	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	387					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.1159G>C	CCDS56441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.33|14.33	2.501761|2.501761	0.44455|0.44455	.|.	.|.	ENSG00000135299|ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000518150;ENST00000520793|ENST00000492158	T;T;T;T;T|.	0.69435|.	1.08;1.1;1.1;1.1;-0.4|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.099148|.	0.44097|.	D|.	0.000483|.	T|.	0.66684|.	0.2814|.	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P;B;D;B|.	0.62365|.	0.861;0.115;0.991;0.015|.	B;B;P;B|.	0.60173|.	0.341;0.07;0.87;0.035|.	T|.	0.60301|.	-0.7290|.	10|.	0.23302|.	T|.	0.38|.	-26.7745|-26.7745	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	328;387;352;387|.	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8|.	.;ANKR6_HUMAN;.;.|.	Q|S	352;387;387;387;128;328|11	ENSP00000358416:E352Q;ENSP00000345767:E387Q;ENSP00000396771:E387Q;ENSP00000430985:E387Q;ENSP00000429782:E328Q|.	ENSP00000345767:E387Q|.	E|X	+|+	1|2	0|2	ANKRD6|ANKRD6	90390438|90390438	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.772000|0.772000	0.43724|0.43724	6.998000|6.998000	0.76277|0.76277	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.537	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1				6	17	0	0	0	1	0	6	17		
RFX6	222546	broad.mit.edu	37	6	117243302	117243302	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:117243302G>C	ENST00000332958.2	+	13	1441	c.1425G>C	c.(1423-1425)caG>caC	p.Q475H		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	475					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGGTAGAACAGAGAGTTATTA	0.378																																						uc003pxm.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1423-1425)CAG>CAC		regulatory factor X, 6							104.0	104.0	104.0					6																	117243302		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117243302G>C	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1425G>C	6.37:g.117243302G>C	ENSP00000332208:p.Gln475His						p.Q475H	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			13	1488	+			475					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1425G>C	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548734	0.27652	.	.	ENSG00000185002	ENST00000332958	T	0.58652	0.32	5.38	3.32	0.38043	.	0.110486	0.64402	D	0.000005	T	0.29028	0.0721	L	0.48642	1.525	0.47994	D	0.999568	B	0.17038	0.02	B	0.12156	0.007	T	0.22556	-1.0213	10	0.41790	T	0.15	-13.0733	6.1367	0.20237	0.3471:0.0:0.6529:0.0	.	475	Q8HWS3	RFX6_HUMAN	H	475	ENSP00000332208:Q475H	ENSP00000332208:Q475H	Q	+	3	2	RFX6	117349995	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.385000	0.34408	1.277000	0.44412	0.585000	0.79938	CAG		0.378	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2		NM_173560		19	61	0	0	0	1	0	19	61		
RFX6	222546	broad.mit.edu	37	6	117252568	117252568	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:117252568C>G	ENST00000332958.2	+	19	2702	c.2686C>G	c.(2686-2688)Caa>Gaa	p.Q896E		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	896					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTATCCAGCTCAAGAAACCCT	0.448																																						uc003pxm.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2686-2688)CAA>GAA		regulatory factor X, 6							135.0	130.0	131.0					6																	117252568		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117252568C>G	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2686C>G	6.37:g.117252568C>G	ENSP00000332208:p.Gln896Glu						p.Q896E	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			19	2749	+			896					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.2686C>G	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625602	0.87560	.	.	ENSG00000185002	ENST00000332958	T	0.67523	-0.27	5.98	5.98	0.97165	.	0.127142	0.53938	D	0.000043	T	0.70002	0.3174	L	0.36672	1.1	0.80722	D	1	D	0.58268	0.982	D	0.67548	0.952	T	0.64774	-0.6328	10	0.33940	T	0.23	-17.5638	20.452	0.99131	0.0:1.0:0.0:0.0	.	896	Q8HWS3	RFX6_HUMAN	E	896	ENSP00000332208:Q896E	ENSP00000332208:Q896E	Q	+	1	0	RFX6	117359261	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.064000	0.76721	2.838000	0.97847	0.591000	0.81541	CAA		0.448	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2		NM_173560		26	66	0	0	0	1	0	26	66		
THEMIS	387357	broad.mit.edu	37	6	128222209	128222209	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:128222209G>T	ENST00000368248.2	-	0	17				THEMIS_ENST00000537166.1_Intron|THEMIS_ENST00000543064.1_De_novo_Start_InFrame|THEMIS_ENST00000368250.1_De_novo_Start_InFrame	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated						negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACTACAGCCAGAGTGGGGTGG	0.507																																						uc003qbi.2		NaN																	0				ovary(2)|skin(2)	4						c.(-133--129)CTCTG>CTATG		thymocyte selection pathway associated isoform																																						387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128222209G>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534		6.37:g.128222209G>T						THEMIS_uc011ebt.1_Translation_Start_Site|THEMIS_uc010kfb.2_Intron		NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			2	188	-								A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Translation_Start_Site	SNP	ENST00000368248.2	37	c.-131C>A	CCDS34534.1																																																																																				0.507	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_001010923		3	18	1	0	0.004672	1	0.00469922	3	18		
ECT2L	345930	broad.mit.edu	37	6	139206926	139206926	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:139206926G>A	ENST00000423192.1	+	17	2379	c.2218G>A	c.(2218-2220)Gca>Aca	p.A740T	ECT2L_ENST00000541398.1_Intron|ECT2L_ENST00000367682.2_Missense_Mutation_p.A740T			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	740	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CTTGACCACTGCAATTGACCA	0.418			"""N, Splice, Mis"""		ETP ALL																																	uc003qif.1		NaN		Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					0					0						c.(2218-2220)GCA>ACA		epithelial cell transforming sequence 2							60.0	61.0	61.0					6																	139206926		1994	4184	6178	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139206926G>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2218G>A	6.37:g.139206926G>A	ENSP00000387388:p.Ala740Thr					ECT2L_uc011edq.1_Intron	p.A740T	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			16	2321	+			740			DH.		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.2218G>A	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638500	0.67130	.	.	ENSG00000203734	ENST00000423192;ENST00000367682	T;T	0.50813	0.73;0.73	5.3	5.3	0.74995	Dbl homology (DH) domain (5);	0.000000	0.40554	U	0.001076	T	0.66366	0.2782	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71932	-0.4443	10	0.87932	D	0	-4.8604	15.8981	0.79350	0.0:0.0:1.0:0.0	.	740	Q008S8	ECT2L_HUMAN	T	740	ENSP00000387388:A740T;ENSP00000356655:A740T	ENSP00000356655:A740T	A	+	1	0	ECT2L	139248619	1.000000	0.71417	0.968000	0.41197	0.103000	0.19146	7.203000	0.77864	2.488000	0.83962	0.655000	0.94253	GCA		0.418	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3		NM_001077706		25	53	0	0	0	1	0	25	53		
NMBR	4829	broad.mit.edu	37	6	142409491	142409491	+	Missense_Mutation	SNP	G	G	C	rs556376921		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:142409491G>C	ENST00000258042.1	-	1	445	c.305C>G	c.(304-306)tCg>tGg	p.S102W	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	102					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.S102W(1)|p.S102L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GAAGTAGCGCGAGGCGTCCAC	0.592																																						uc003qiu.2		NaN																	2	Substitution - Missense(2)		ovary(1)|lung(1)	central_nervous_system(3)|breast(1)	4						c.(304-306)TCG>TGG		neuromedin B receptor							74.0	63.0	67.0					6																	142409491		2203	4300	6503	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142409491G>C		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.305C>G	6.37:g.142409491G>C	ENSP00000258042:p.Ser102Trp						p.S102W	NM_002511	NP_002502	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	1	446	-	Breast(32;0.155)		102			Extracellular (Potential).		E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.305C>G	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827746	0.71143	.	.	ENSG00000135577	ENST00000258042	T	0.73152	-0.72	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.051799	0.85682	D	0.000000	T	0.77751	0.4177	M	0.73217	2.22	0.58432	D	0.999994	D	0.71674	0.998	D	0.71184	0.972	T	0.76418	-0.2966	10	0.40728	T	0.16	-14.389	13.2433	0.60010	0.0728:0.0:0.9272:0.0	.	102	P28336	NMBR_HUMAN	W	102	ENSP00000258042:S102W	ENSP00000258042:S102W	S	-	2	0	NMBR	142451184	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.552000	0.53705	2.813000	0.96785	0.655000	0.94253	TCG		0.592	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1				15	23	0	0	0	1	0	15	23		
NUP43	348995	broad.mit.edu	37	6	150059906	150059906	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:150059906C>G	ENST00000340413.2	-	5	587	c.511G>C	c.(511-513)Gat>Cat	p.D171H	NUP43_ENST00000367403.3_Intron|NUP43_ENST00000367404.4_Intron|NUP43_ENST00000460354.2_Missense_Mutation_p.D171H	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	171					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GTACTACTATCTGCATTGTCT	0.333																																						uc003qmz.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(511-513)GAT>CAT		nucleoporin 43kDa							92.0	93.0	93.0					6																	150059906		2203	4299	6502	SO:0001583	missense	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150059906C>G	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.511G>C	6.37:g.150059906C>G	ENSP00000342262:p.Asp171His					NUP43_uc003qmx.3_5'Flank|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Intron	p.D171H	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	5	568	-		Ovarian(120;0.0164)	171			WD 4.		B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	c.511G>C	CCDS5218.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851975	0.91355	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000543637	T;T	0.57107	0.42;0.42	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.67457	-0.5666	10	0.02654	T	1	-21.7378	19.5066	0.95118	0.0:1.0:0.0:0.0	.	171	Q8NFH3	NUP43_HUMAN	H	171;171;178	ENSP00000342262:D171H;ENSP00000432401:D171H	ENSP00000342262:D171H	D	-	1	0	NUP43	150101599	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.238000	0.78173	2.626000	0.88956	0.454000	0.30748	GAT		0.333	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1		NM_198887		25	85	0	0	0	1	0	25	85		
AKAP12	9590	broad.mit.edu	37	6	151671704	151671704	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:151671704C>T	ENST00000253332.1	+	3	2367	c.2178C>T	c.(2176-2178)gaC>gaT	p.D726D	AKAP12_ENST00000359755.5_Silent_p.D621D|AKAP12_ENST00000354675.6_Silent_p.D628D|AKAP12_ENST00000402676.2_Silent_p.D726D			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	726					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CGGGGACAGACGGGATCCTTG	0.587																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NaN																	0				large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(2176-2178)GAC>GAT		A kinase (PRKA) anchor protein 12 isoform 1							101.0	110.0	107.0					6																	151671704		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671704C>T	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2178C>T	6.37:g.151671704C>T						AKAP12_uc003qoe.2_Silent_p.D726D|AKAP12_uc003qof.2_Silent_p.D628D|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.D621D	p.D726D	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2418	+		Ovarian(120;0.125)	726					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.2178C>T	CCDS5229.1																																																																																				0.587	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1				40	101	0	0	0	1	0	40	101		
SYNE1	23345	broad.mit.edu	37	6	152477104	152477104	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:152477104C>T	ENST00000367255.5	-	132	24520	c.23919G>A	c.(23917-23919)acG>acA	p.T7973T	SYNE1_ENST00000448038.1_Silent_p.T7902T|SYNE1_ENST00000354674.4_Silent_p.T128T|SYNE1_ENST00000341594.5_Silent_p.T7585T|SYNE1_ENST00000539504.1_Silent_p.T128T|SYNE1_ENST00000265368.4_Silent_p.T7973T|SYNE1_ENST00000356820.4_Silent_p.T2497T|SYNE1_ENST00000423061.1_Silent_p.T7902T|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7973					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)		CCAGGTTTCTCGTAGCCTGCT	0.532										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.(23917-23919)ACG>ACA		spectrin repeat containing, nuclear envelope 1							119.0	111.0	114.0					6																	152477104		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:152477104C>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.23919G>A	6.37:g.152477104C>T		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.T2497T|SYNE1_uc003qos.3_Silent_p.T2497T|SYNE1_uc003qot.3_Silent_p.T7902T|SYNE1_uc003qou.3_Silent_p.T7973T|SYNE1_uc003qop.3_Silent_p.T135T|SYNE1_uc011eez.1_Silent_p.T175T|SYNE1_uc003qoq.3_Silent_p.T175T|SYNE1_uc003qor.3_Silent_p.T873T	p.T7973T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	132	24521	-		Ovarian(120;0.0955)	7973			Spectrin 28.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.23919G>A	CCDS5236.2																																																																																				0.532	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		14	57	0	0	0	1	0	14	57		
THBS2	7058	broad.mit.edu	37	6	169648730	169648730	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:169648730C>T	ENST00000366787.3	-	4	640	c.391G>A	c.(391-393)Gac>Aac	p.D131N		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	131	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGGGTGCCGTCAATCCAGTAG	0.652																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NaN																	0				ovary(5)	5						c.(391-393)GAC>AAC		thrombospondin 2 precursor							86.0	73.0	78.0					6																	169648730		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648730C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.391G>A	6.37:g.169648730C>T	ENSP00000355751:p.Asp131Asn						p.D131N	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	639	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	131			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.391G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.897914	0.52227	.	.	ENSG00000186340	ENST00000366787	T	0.02258	4.37	4.61	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.160911	0.28182	U	0.016283	T	0.02380	0.0073	M	0.68952	2.095	0.27486	N	0.952435	P	0.43938	0.822	B	0.42462	0.388	T	0.18304	-1.0341	10	0.59425	D	0.04	-23.8863	17.8299	0.88679	0.0:1.0:0.0:0.0	.	131	P35442	TSP2_HUMAN	N	131	ENSP00000355751:D131N	ENSP00000355751:D131N	D	-	1	0	THBS2	169390655	1.000000	0.71417	0.010000	0.14722	0.005000	0.04900	6.977000	0.76141	2.264000	0.75181	0.563000	0.77884	GAC		0.652	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1		NM_003247		27	60	0	0	0	1	0	27	60		
STK31	56164	broad.mit.edu	37	7	23810669	23810669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:23810669C>T	ENST00000355870.3	+	14	1878	c.1759C>T	c.(1759-1761)Caa>Taa	p.Q587*	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Nonsense_Mutation_p.Q564*|STK31_ENST00000428484.1_Nonsense_Mutation_p.Q564*|STK31_ENST00000433467.2_Nonsense_Mutation_p.Q587*	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	587						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TACATATAGTCAAGTACTGCA	0.348																																						uc003sws.3		NaN																	0				skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(1759-1761)CAA>TAA		serine/threonine kinase 31 isoform a							176.0	177.0	177.0					7																	23810669		2203	4300	6503	SO:0001587	stop_gained	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23810669C>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1759C>T	7.37:g.23810669C>T	ENSP00000348132:p.Gln587*					STK31_uc003swt.3_Nonsense_Mutation_p.Q564*|STK31_uc011jze.1_Nonsense_Mutation_p.Q587*|STK31_uc010kuq.2_Nonsense_Mutation_p.Q564*	p.Q587*	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			14	1826	+			587					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Nonsense_Mutation	SNP	ENST00000355870.3	37	c.1759C>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	40	8.234575	0.98719	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	5.51	4.58	0.56647	.	0.207319	0.39985	N	0.001205	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-9.4024	9.1744	0.37102	0.2185:0.5843:0.1972:0.0	.	.	.	.	X	587;587;564;564	.	ENSP00000346660:Q564X	Q	+	1	0	STK31	23777194	0.895000	0.30542	1.000000	0.80357	0.995000	0.86356	1.082000	0.30803	2.578000	0.87016	0.650000	0.86243	CAA		0.348	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2		NM_031414		30	96	0	0	0	1	0	30	96		
GHRHR	2692	broad.mit.edu	37	7	31018736	31018736	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:31018736G>A	ENST00000326139.2	+	13	1195	c.1149G>A	c.(1147-1149)gtG>gtA	p.V383V	GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000409904.3_Silent_p.V319V|GHRHR_ENST00000409316.1_Missense_Mutation_p.E150K	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	383					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CCCTGGAGGTGAGGACTGAGA	0.592																																						uc003tbx.2		NaN																	0				ovary(2)|lung(1)|breast(1)|large_intestine(1)	5						c.(1147-1149)GTG>GTA		growth hormone releasing hormone receptor	Sermorelin(DB00010)						128.0	98.0	108.0					7																	31018736		2203	4300	6503	SO:0001819	synonymous_variant	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31018736G>A		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1149G>A	7.37:g.31018736G>A						GHRHR_uc003tby.2_Silent_p.V319V|GHRHR_uc003tbz.2_Missense_Mutation_p.E150K	p.V383V	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			13	1197	+			383			Cytoplasmic (Potential).		Q99863	Silent	SNP	ENST00000326139.2	37	c.1149G>A	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.385918	0.42308	.	.	ENSG00000106128	ENST00000409233;ENST00000409316	.	.	.	5.25	3.35	0.38373	.	.	.	.	.	T	0.47266	0.1436	.	.	.	0.80722	D	1	B	0.16802	0.019	B	0.17433	0.018	T	0.50162	-0.8860	7	0.87932	D	0	.	7.952	0.30021	0.0916:0.1619:0.7465:0.0	.	150	Q9HB43	.	K	171;150	.	ENSP00000386919:E171K	E	+	1	0	GHRHR	30985261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.330000	0.33781	1.353000	0.45828	0.643000	0.83706	GAG		0.592	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2				10	46	0	0	0	1	0	10	46		
INHBA	3624	broad.mit.edu	37	7	41739721	41739721	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:41739721C>T	ENST00000242208.4	-	2	498	c.252G>A	c.(250-252)ctG>ctA	p.L84L	AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA_ENST00000442711.1_Silent_p.L84L|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000422822.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	84					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGATCGCGTTCAGAAGCGCCG	0.517										TSP Lung(11;0.080)																												uc003thq.2		NaN																	0				lung(5)|ovary(1)	6						c.(250-252)CTG>CTA		inhibin beta A precursor							293.0	312.0	306.0					7																	41739721		2203	4300	6503	SO:0001819	synonymous_variant	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739721C>T		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.252G>A	7.37:g.41739721C>T		TSP Lung(11;0.080)				LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Silent_p.L84L|LOC285954_uc003ths.2_Intron	p.L84L	NM_002192	NP_002183	P08476	INHBA_HUMAN			1	487	-			84					Q14599	Silent	SNP	ENST00000242208.4	37	c.252G>A	CCDS5464.1																																																																																				0.517	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1				135	329	0	0	0	1	0	135	329		
CALN1	83698	broad.mit.edu	37	7	71571273	71571273	+	Missense_Mutation	SNP	C	C	T	rs376691632		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:71571273C>T	ENST00000329008.5	-	3	423	c.125G>A	c.(124-126)cGa>cAa	p.R42Q	CALN1_ENST00000405452.2_Missense_Mutation_p.R42Q|CALN1_ENST00000412588.1_Missense_Mutation_p.R84Q|CALN1_ENST00000395276.2_Missense_Mutation_p.R42Q|CALN1_ENST00000395275.2_Missense_Mutation_p.R84Q|CALN1_ENST00000431984.1_Missense_Mutation_p.R42Q	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	42	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AAAGGCCTCTCGGATTTCTAC	0.527																																						uc003twa.3		NaN																	0				skin(1)	1						c.(124-126)CGA>CAA		calneuron 1 isoform 2		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	50.0	51.0	51.0		125,251	4.6	1.0	7		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CALN1	NM_001017440.2,NM_031468.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	42/220,84/262	71571273	1,13005	2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71571273C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.125G>A	7.37:g.71571273C>T	ENSP00000332498:p.Arg42Gln					CALN1_uc003twb.3_Missense_Mutation_p.R84Q|CALN1_uc003twc.3_Missense_Mutation_p.R42Q	p.R42Q	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			3	652	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	42			EF-hand 1.|Cytoplasmic (Potential).		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.125G>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744718	0.69418	0.0	1.16E-4	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.51	4.63	0.57726	EF-hand-like domain (1);	0.110408	0.64402	D	0.000006	T	0.72606	0.3481	N	0.21194	0.64	0.47862	D	0.99953	D;D	0.71674	0.998;0.998	D;D	0.65140	0.932;0.932	T	0.76277	-0.3018	10	0.72032	D	0.01	-1.0657	13.4146	0.60961	0.0:0.9245:0.0:0.0755	.	42;42	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	Q	42;84;42;42;84;42;42	ENSP00000332498:R42Q;ENSP00000378690:R84Q;ENSP00000378691:R42Q;ENSP00000410704:R42Q;ENSP00000391882:R84Q;ENSP00000384354:R42Q;ENSP00000411806:R42Q	ENSP00000332498:R42Q	R	-	2	0	CALN1	71209209	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	5.731000	0.68554	1.349000	0.45751	0.597000	0.82753	CGA		0.527	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2		NM_031468		17	29	0	0	0	1	0	17	29		
GTF2I	2969	broad.mit.edu	37	7	74119540	74119540	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:74119540C>G	ENST00000324896.4	+	7	1020	c.631C>G	c.(631-633)Cca>Gca	p.P211A	GTF2I_ENST00000353920.4_Missense_Mutation_p.P211A|AC083884.8_ENST00000434256.1_RNA|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.P211A|GTF2I_ENST00000416070.1_Missense_Mutation_p.P211A|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.P211A	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	211					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AATACTATCTCCAGGTGGAAG	0.318																																						uc003uau.2		NaN																	0					0						c.(631-633)CCA>GCA		general transcription factor IIi isoform 1							116.0	102.0	107.0					7																	74119540		2203	4300	6503	SO:0001583	missense	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74119540C>G	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.631C>G	7.37:g.74119540C>G	ENSP00000322542:p.Pro211Ala					GTF2I_uc003uat.2_Missense_Mutation_p.P211A|GTF2I_uc003uav.2_Missense_Mutation_p.P211A|GTF2I_uc003uaw.2_Missense_Mutation_p.P211A|GTF2I_uc003uay.2_Missense_Mutation_p.P211A|GTF2I_uc003uax.2_Missense_Mutation_p.P211A|uc003uaz.2_Intron	p.P211A	NM_032999	NP_127492	P78347	GTF2I_HUMAN			7	1001	+			211					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	c.631C>G	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787902	0.31593	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166	T;T;T;T;T	0.41758	1.54;1.56;1.56;1.58;0.99	5.11	3.24	0.37175	.	0.456335	0.22216	N	0.063026	T	0.35038	0.0918	L	0.52573	1.65	0.34282	D	0.682241	B;B;B;B;B;B	0.25850	0.049;0.023;0.136;0.03;0.005;0.068	B;B;B;B;B;B	0.23419	0.028;0.023;0.046;0.013;0.008;0.027	T	0.45131	-0.9282	10	0.56958	D	0.05	-1.8534	8.5426	0.33402	0.0:0.762:0.1537:0.0843	.	211;211;211;211;211;211	Q499G6;P78347-2;P78347-3;P78347-4;P78347;Q86U51	.;.;.;.;GTF2I_HUMAN;.	A	211;206;211;211;211;211	ENSP00000322542:P211A;ENSP00000322671:P211A;ENSP00000322599:P211A;ENSP00000387651:P211A;ENSP00000404240:P211A	ENSP00000322542:P211A	P	+	1	0	GTF2I	73757476	0.987000	0.35691	0.988000	0.46212	0.904000	0.53231	0.989000	0.29629	0.770000	0.33336	0.655000	0.94253	CCA		0.318	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1		NM_032999		9	46	0	0	0	1	0	9	46		
SEMA3A	10371	broad.mit.edu	37	7	83823834	83823834	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:83823834C>T	ENST00000265362.4	-	1	383	c.69G>A	c.(67-69)caG>caA	p.Q23Q	SEMA3A_ENST00000436949.1_Silent_p.Q23Q	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	23					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCTTCCCATTCTGATAGTTTG	0.418																																						uc003uhz.2		NaN																	0				ovary(2)|breast(1)|kidney(1)	4						c.(67-69)CAG>CAA		semaphorin 3A precursor							199.0	196.0	197.0					7																	83823834		2203	4300	6503	SO:0001819	synonymous_variant	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83823834C>T	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.69G>A	7.37:g.83823834C>T							p.Q23Q	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			1	384	-			23						Silent	SNP	ENST00000265362.4	37	c.69G>A	CCDS5599.1																																																																																				0.418	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2		NM_006080		37	104	0	0	0	1	0	37	104		
ABCB1	5243	broad.mit.edu	37	7	87196174	87196174	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:87196174G>A	ENST00000265724.3	-	7	874	c.457C>T	c.(457-459)Cat>Tat	p.H153Y	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	153	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATTATAGCATGAAAAAACTGT	0.418																																						uc003uiz.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(457-459)CAT>TAT		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						134.0	137.0	136.0					7																	87196174		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87196174G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.457C>T	7.37:g.87196174G>A	ENSP00000265724:p.His153Tyr					ABCB1_uc011khc.1_Intron	p.H153Y	NM_000927	NP_000918	P08183	MDR1_HUMAN			7	875	-	Esophageal squamous(14;0.00164)		153			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.457C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562823	0.86335	.	.	ENSG00000085563	ENST00000265724	T	0.79845	-1.31	5.91	5.91	0.95273	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.139968	0.64402	D	0.000004	D	0.87478	0.6187	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.87768	0.2603	10	0.72032	D	0.01	-20.4139	15.061	0.71955	0.0:0.0:0.8581:0.1419	.	153	P08183	MDR1_HUMAN	Y	153	ENSP00000265724:H153Y	ENSP00000265724:H153Y	H	-	1	0	ABCB1	87034110	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.658000	0.74407	2.813000	0.96785	0.655000	0.94253	CAT		0.418	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2		NM_000927		9	41	0	0	0	1	0	9	41		
SLC26A5	375611	broad.mit.edu	37	7	103018061	103018061	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:103018061C>T	ENST00000306312.3	-	18	2232	c.1971G>A	c.(1969-1971)gtG>gtA	p.V657V	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393729.1_Silent_p.V620V|SLC26A5_ENST00000393723.1_Silent_p.V627V|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Silent_p.V90V|SLC26A5_ENST00000393730.1_Silent_p.V625V|SLC26A5_ENST00000432958.2_Silent_p.V625V|SLC26A5_ENST00000339444.6_Silent_p.V657V|SLC26A5_ENST00000393727.1_Silent_p.V659V	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	657	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CCAGAGTTTTCACTCCAACAG	0.443																																						uc003vbz.2		NaN																	0				ovary(1)	1						c.(1969-1971)GTG>GTA		prestin isoform a							68.0	68.0	68.0					7																	103018061		2203	4300	6503	SO:0001819	synonymous_variant	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103018061C>T	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1971G>A	7.37:g.103018061C>T						SLC26A5_uc003vbt.1_Silent_p.V657V|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.V625V|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	p.V657V	NM_198999	NP_945350	P58743	S26A5_HUMAN			18	2207	-			657			Cytoplasmic (Potential).|STAS.		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	c.1971G>A	CCDS5733.1																																																																																				0.443	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1		NM_198999		18	43	0	0	0	1	0	18	43		
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	3'UTR	SNP	A	A	C	rs201022134		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:116869938A>C	ENST00000393446.2	+	0	1902				ST7_ENST00000422922.1_3'UTR|ST7_ENST00000393447.4_3'UTR|ST7_ENST00000432298.1_3'UTR|ST7_ENST00000393443.1_3'UTR|ST7_ENST00000393444.3_3'UTR|ST7_ENST00000393451.3_3'UTR|ST7_ENST00000323984.3_3'UTR|ST7_ENST00000393449.1_3'UTR			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507																																						uc011knn.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1465-1467)ACC>CCC		suppression of tumorigenicity 7 isoform b							60.0	58.0	59.0					7																	116869938		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7982					integral to membrane	binding	g.chr7:116869938A>C	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.*27A>C	7.37:g.116869938A>C						ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	p.T489P	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	14	1470	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		Error:Variant_position_missing_in_Q9NRC1_after_alignment					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.1465A>C		.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019789	0.07634	.	.	ENSG00000004866	ENST00000446490;ENST00000490039	T;T	0.20069	2.1;2.1	4.85	-9.7	0.00521	.	.	.	.	.	T	0.12902	0.0313	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	8	0.87932	D	0	.	8.0486	0.30564	0.3268:0.2885:0.3847:0.0	.	489	C9JU30	.	P	487;489	ENSP00000402934:T487P;ENSP00000419516:T489P	ENSP00000402934:T487P	T	+	1	0	ST7	116657174	0.000000	0.05858	0.008000	0.14137	0.044000	0.14063	-0.532000	0.06164	-1.939000	0.01044	-1.252000	0.01501	ACC		0.507	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1		NM_021908		9	27	0	0	0	1	0	9	27		
FAM71F1	84691	broad.mit.edu	37	7	128356937	128356937	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:128356937C>G	ENST00000315184.5	+	2	373	c.320C>G	c.(319-321)tCg>tGg	p.S107W	FAM71F1_ENST00000485070.1_Silent_p.L28L|FAM71F1_ENST00000469348.1_3'UTR	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	107										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						GTGACCTCCTCGGTACCCTGC	0.587																																						uc003vno.1		NaN																	0				skin(1)	1						c.(319-321)TCG>TGG		testes development-related NYD-SP18							104.0	86.0	92.0					7																	128356937		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128356937C>G	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.320C>G	7.37:g.128356937C>G	ENSP00000326652:p.Ser107Trp					FAM71F1_uc010llo.1_Missense_Mutation_p.S8W|FAM71F1_uc011koq.1_Silent_p.L31L|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Silent_p.L28L|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.S107W	p.S107W	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN			2	373	+			107					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.320C>G	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.328281	0.41197	.	.	ENSG00000135248	ENST00000315184	T	0.13657	2.57	5.54	4.64	0.57946	.	0.116333	0.39759	N	0.001278	T	0.39145	0.1067	M	0.83603	2.65	0.47621	D	0.999474	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	T	0.33904	-0.9850	10	0.87932	D	0	-15.6612	11.5313	0.50612	0.1791:0.8209:0.0:0.0	.	107;107;107	F8WC62;Q96KD3-2;Q96KD3	.;.;F71F1_HUMAN	W	107	ENSP00000326652:S107W	ENSP00000326652:S107W	S	+	2	0	FAM71F1	128144173	0.993000	0.37304	0.886000	0.34754	0.245000	0.25701	4.013000	0.57138	1.294000	0.44707	0.591000	0.81541	TCG		0.587	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2		NM_032599		7	23	0	0	0	1	0	7	23		
TSPAN33	340348	broad.mit.edu	37	7	128806685	128806685	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:128806685G>A	ENST00000289407.4	+	6	635	c.526G>A	c.(526-528)Gac>Aac	p.D176N	RP11-286H14.6_ENST00000498745.1_RNA|Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	176					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CTGCTCAGAAGACAACCCCAG	0.522																																						uc003vop.1		NaN																	0				ovary(1)	1						c.(526-528)GAC>AAC		tetraspanin 33							285.0	254.0	264.0					7																	128806685		2203	4300	6503	SO:0001583	missense	340348					integral to membrane		g.chr7:128806685G>A		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.526G>A	7.37:g.128806685G>A	ENSP00000289407:p.Asp176Asn					TSPAN33_uc003voq.1_Missense_Mutation_p.D8N	p.D176N	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN			6	755	+			176			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000289407.4	37	c.526G>A	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395694	0.42512	.	.	ENSG00000158457	ENST00000289407	T	0.78707	-1.2	5.68	5.68	0.88126	Tetraspanin, EC2 domain (1);	0.293672	0.36200	N	0.002737	T	0.68357	0.2992	L	0.29908	0.895	0.46678	D	0.999154	B	0.16396	0.017	B	0.19666	0.026	T	0.62120	-0.6921	10	0.17369	T	0.5	-23.7122	17.2797	0.87125	0.0:0.0:1.0:0.0	.	176	Q86UF1	TSN33_HUMAN	N	176	ENSP00000289407:D176N	ENSP00000289407:D176N	D	+	1	0	TSPAN33	128593921	0.989000	0.36119	0.994000	0.49952	0.957000	0.61999	2.691000	0.47010	2.663000	0.90544	0.655000	0.94253	GAC		0.522	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1		NM_178562		39	143	0	0	0	1	0	39	143		
MGAM	8972	broad.mit.edu	37	7	141724872	141724872	+	Missense_Mutation	SNP	C	C	T	rs201997667	byFrequency	TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:141724872C>T	ENST00000549489.2	+	8	1000	c.905C>T	c.(904-906)gCg>gTg	p.A302V	MGAM_ENST00000475668.2_Missense_Mutation_p.A302V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	302	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGTATGGTGCGCAGACATTC	0.398													C|||	4	0.000798722	0.0	0.0	5008	,	,		19777	0.004		0.0	False		,,,				2504	0.0					uc003vwy.2		NaN																	0				ovary(2)	2						c.(904-906)GCG>GTG		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	C	VAL/ALA	0,3754		0,0,1877	154.0	145.0	148.0		905	2.1	0.1	7		148	4,8234		0,4,4115	yes	missense	MGAM	NM_004668.2	64	0,4,5992	TT,TC,CC		0.0486,0.0,0.0334	benign	302/1858	141724872	4,11988	1877	4119	5996	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141724872C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.905C>T	7.37:g.141724872C>T	ENSP00000447378:p.Ala302Val						p.A302V	NM_004668	NP_004659	O43451	MGA_HUMAN			8	959	+	Melanoma(164;0.0272)		302			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.905C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	8.638	0.895291	0.17613	0.0	4.86E-4	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.85702	-2.02	5.01	2.1	0.27182	Glycoside hydrolase-type carbohydrate-binding (1);	0.780556	0.11251	N	0.583645	T	0.61388	0.2343	N	0.10629	0.01	0.09310	N	1	B	0.32160	0.358	B	0.12156	0.007	T	0.52434	-0.8576	10	0.02654	T	1	.	7.5027	0.27526	0.0:0.6928:0.0:0.3072	.	302	O43451	MGA_HUMAN	V	302;302;179	ENSP00000447378:A302V	ENSP00000316431:A179V	A	+	2	0	MGAM	141371341	0.000000	0.05858	0.114000	0.21550	0.820000	0.46376	0.125000	0.15749	0.242000	0.21303	0.655000	0.94253	GCG		0.398	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3				17	26	0	0	0	1	0	17	26		
KMT2C	58508	broad.mit.edu	37	7	151860303	151860303	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:151860303G>A	ENST00000262189.6	-	43	10577	c.10359C>T	c.(10357-10359)ttC>ttT	p.F3453F	KMT2C_ENST00000355193.2_Silent_p.F3453F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3453	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CGGAACTGTAGAAGGGAATCT	0.478																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(10357-10359)TTC>TTT		myeloid/lymphoid or mixed-lineage leukemia 3							210.0	188.0	196.0					7																	151860303		2203	4300	6503	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151860303G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10359C>T	7.37:g.151860303G>A						MLL3_uc003wkz.2_Silent_p.F2514F|MLL3_uc003wky.2_Silent_p.F962F	p.F3453F	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	43	10578	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	3453			Gln-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.10359C>T	CCDS5931.1																																																																																				0.478	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				49	149	0	0	0	1	0	49	149		
KIAA1456	57604	broad.mit.edu	37	8	12879157	12879157	+	Missense_Mutation	SNP	G	G	C	rs201727251	byFrequency	TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:12879157G>C	ENST00000524591.2	+	5	1458	c.969G>C	c.(967-969)tgG>tgC	p.W323C	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	323							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						ACTTGGAGTGGCTGAGAGCAC	0.423													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		19202	0.0		0.0	False		,,,				2504	0.0					uc010lsq.2		NaN																	0					0						c.(967-969)TGG>TGC		hypothetical protein LOC57604 isoform 1		G	CYS/TRP,CYS/TRP	39,3645		0,39,1803	77.0	73.0	74.0		591,969	3.8	0.2	8		74	1,8199		0,1,4099	yes	missense,missense	KIAA1456	NM_001099677.1,NM_020844.2	215,215	0,40,5902	CC,CG,GG		0.0122,1.0586,0.3366	benign,benign	197/329,323/455	12879157	40,11844	1842	4100	5942	SO:0001583	missense	57604						methyltransferase activity	g.chr8:12879157G>C	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.969G>C	8.37:g.12879157G>C	ENSP00000432695:p.Trp323Cys					C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.W236C|C8orf79_uc010lsr.2_Missense_Mutation_p.W197C	p.W323C	NM_020844	NP_065895	Q9P272	K1456_HUMAN			5	1461	+			323					Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	c.969G>C	CCDS47808.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.30	1.599007	0.28534	0.010586	1.22E-4	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.11930	2.73	4.65	3.77	0.43336	.	0.697753	0.15040	N	0.283960	T	0.11239	0.0274	L	0.47716	1.5	0.80722	D	1	B	0.19200	0.034	B	0.16722	0.016	T	0.04796	-1.0926	10	0.45353	T	0.12	-1.5567	16.0472	0.80727	0.0:0.1345:0.8655:0.0	.	323	Q9P272	K1456_HUMAN	C	323;236	ENSP00000432695:W323C	ENSP00000432695:W323C	W	+	3	0	AC135352.2	12923528	1.000000	0.71417	0.167000	0.22817	0.137000	0.21094	4.751000	0.62169	1.543000	0.49345	0.561000	0.74099	TGG		0.423	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2		NM_001099677		4	41	0	0	0	1	0	4	41		
MSR1	4481	broad.mit.edu	37	8	16026273	16026273	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:16026273C>T	ENST00000262101.5	-	4	445	c.324G>A	c.(322-324)atG>atA	p.M108I	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.M108I|MSR1_ENST00000445506.2_Missense_Mutation_p.M126I|MSR1_ENST00000355282.2_Missense_Mutation_p.M108I|MSR1_ENST00000350896.3_Missense_Mutation_p.M108I			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	108	Spacer. {ECO:0000305}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTTGAAATCTCATTTCCTCTT	0.403																																						uc003wwz.2		NaN																	0				ovary(1)	1						c.(322-324)ATG>ATA		macrophage scavenger receptor 1 isoform type 1							255.0	231.0	239.0					8																	16026273		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16026273C>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.324G>A	8.37:g.16026273C>T	ENSP00000262101:p.Met108Ile					MSR1_uc010lsu.2_Missense_Mutation_p.M126I|MSR1_uc003wxa.2_Missense_Mutation_p.M108I|MSR1_uc003wxb.2_Missense_Mutation_p.M108I|MSR1_uc011kxz.1_Intron	p.M108I	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	522	-			108			Spacer (Probable).|Extracellular (Potential).		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.324G>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.896271	0.00522	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	T;T;T;T;D	0.90004	-0.49;-0.49;-0.49;-0.49;-2.6	4.39	0.545	0.17190	.	0.864047	0.10137	N	0.711357	D	0.84070	0.5391	M	0.69823	2.125	0.09310	N	1	B;B;B;B	0.12630	0.003;0.006;0.001;0.002	B;B;B;B	0.12156	0.004;0.007;0.004;0.002	T	0.64799	-0.6322	10	0.13853	T	0.58	.	4.1051	0.10033	0.0:0.5343:0.173:0.2927	.	126;108;108;108	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	I	108;108;126;108;108	ENSP00000262100:M108I;ENSP00000262101:M108I;ENSP00000405453:M126I;ENSP00000347430:M108I;ENSP00000371428:M108I	ENSP00000262101:M108I	M	-	3	0	MSR1	16070644	0.023000	0.18921	0.013000	0.15412	0.020000	0.10135	0.265000	0.18515	-0.011000	0.14247	-0.182000	0.12963	ATG		0.403	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2				33	73	0	0	0	1	0	33	73		
TGS1	96764	broad.mit.edu	37	8	56695312	56695312	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:56695312G>A	ENST00000260129.5	+	2	584	c.107G>A	c.(106-108)cGa>cAa	p.R36Q		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	36					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CGCAGGGATCGAAAATTGTAC	0.313																																					Esophageal Squamous(34;275 823 4842 34837 48447)	uc003xsj.3		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(106-108)CGA>CAA		trimethylguanosine synthase homolog							72.0	80.0	77.0					8																	56695312		2203	4299	6502	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56695312G>A	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.107G>A	8.37:g.56695312G>A	ENSP00000260129:p.Arg36Gln					TGS1_uc010lyh.2_Intron	p.R36Q	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		2	494	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	36					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.107G>A	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442574	0.83993	.	.	ENSG00000137574	ENST00000260129	T	0.16897	2.31	5.16	5.16	0.70880	.	0.194769	0.33875	N	0.004467	T	0.41949	0.1181	M	0.76574	2.34	0.44409	D	0.997324	D	0.89917	1.0	D	0.65140	0.932	T	0.33777	-0.9855	10	0.72032	D	0.01	-13.8235	17.1982	0.86899	0.0:0.0:1.0:0.0	.	36	Q96RS0	TGS1_HUMAN	Q	36	ENSP00000260129:R36Q	ENSP00000260129:R36Q	R	+	2	0	TGS1	56857866	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	6.713000	0.74686	2.559000	0.86315	0.563000	0.77884	CGA		0.313	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1		NM_024831		21	55	0	0	0	1	0	21	55		
FAM110B	90362	broad.mit.edu	37	8	59059267	59059267	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:59059267G>A	ENST00000361488.3	+	5	1358	c.478G>A	c.(478-480)Gcg>Acg	p.A160T	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	160						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				TCACTCCTTCGCGGAGTCCCT	0.692																																						uc003xtj.1		NaN																	0				large_intestine(1)	1						c.(478-480)GCG>ACG		hypothetical protein LOC90362							19.0	20.0	19.0					8																	59059267		2203	4299	6502	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059267G>A	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.478G>A	8.37:g.59059267G>A	ENSP00000355204:p.Ala160Thr						p.A160T	NM_147189	NP_671722	Q8TC76	F110B_HUMAN			5	1358	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	160					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.478G>A	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873411	0.33069	.	.	ENSG00000169122	ENST00000361488	T	0.30448	1.53	5.49	5.49	0.81192	.	0.197692	0.44902	D	0.000414	T	0.19366	0.0465	N	0.19112	0.55	0.49130	D	0.999758	P	0.40211	0.707	B	0.29524	0.103	T	0.03910	-1.0993	9	.	.	.	-26.441	19.3514	0.94389	0.0:0.0:1.0:0.0	.	160	Q8TC76	F110B_HUMAN	T	160	ENSP00000355204:A160T	.	A	+	1	0	FAM110B	59221821	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	3.814000	0.55643	2.585000	0.87301	0.561000	0.74099	GCG		0.692	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2		NM_147189		5	10	0	0	0	1	0	5	10		
C8orf34	116328	broad.mit.edu	37	8	69351819	69351819	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:69351819G>A	ENST00000539993.1	+	2	704	c.155G>A	c.(154-156)cGt>cAt	p.R52H	C8orf34_ENST00000523686.1_Missense_Mutation_p.R52H|C8orf34_ENST00000348340.2_Missense_Mutation_p.R52H|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_Missense_Mutation_p.R138H|C8orf34_ENST00000337103.4_Missense_Mutation_p.R27H			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	52										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAAGGGAACCGTGGACAACTT	0.403																																						uc010lyz.2		NaN																	0				large_intestine(1)	1						c.(154-156)CGT>CAT		hypothetical protein LOC116328							89.0	86.0	87.0					8																	69351819		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69351819G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.155G>A	8.37:g.69351819G>A	ENSP00000438159:p.Arg52His					C8orf34_uc010lyx.1_Missense_Mutation_p.R52H|C8orf34_uc010lyy.1_Missense_Mutation_p.R52H|C8orf34_uc003xyb.2_Missense_Mutation_p.R27H	p.R52H	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		2	204	+			52					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.155G>A		.	.	.	.	.	.	.	.	.	.	G	16.99	3.274932	0.59649	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000523686;ENST00000348340;ENST00000337103	T;T;T	0.47177	0.85;0.89;0.86	5.74	3.94	0.45596	cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (1);	0.173822	0.51477	N	0.000081	T	0.33990	0.0882	L	0.40543	1.245	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.003	B;B;B	0.08055	0.003;0.001;0.003	T	0.18713	-1.0328	9	.	.	.	-7.8064	6.8691	0.24111	0.1994:0.0:0.6777:0.1228	.	52;52;52	Q49A92;Q49A92-3;Q49A92-5	CH034_HUMAN;.;.	H	138;52;52;52;27	ENSP00000427820:R138H;ENSP00000438159:R52H;ENSP00000337174:R27H	.	R	+	2	0	C8orf34	69514373	0.984000	0.35163	0.973000	0.42090	0.946000	0.59487	2.489000	0.45285	0.765000	0.33221	-0.232000	0.12228	CGT		0.403	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_052958		17	38	0	0	0	1	0	17	38		
ZNF706	51123	broad.mit.edu	37	8	102213962	102213962	+	Missense_Mutation	SNP	C	C	G	rs202198915	byFrequency	TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:102213962C>G	ENST00000520347.1	-	2	2964	c.8G>C	c.(7-9)cGt>cCt	p.R3P	ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P|ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	3							metal ion binding (GO:0046872)	p.R3P(2)		large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGCTGTCCACGAGCCATATC	0.398																																						uc003yka.2		NaN																	2	Substitution - Missense(2)	p.R3P(2)	ovary(2)	ovary(2)	2						c.(7-9)CGT>CCT		HSPC038 protein							66.0	63.0	64.0					8																	102213962		2203	4300	6503	SO:0001583	missense	51123					intracellular	zinc ion binding	g.chr8:102213962C>G	AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.8G>C	8.37:g.102213962C>G	ENSP00000430823:p.Arg3Pro					ZNF706_uc003ykb.2_Missense_Mutation_p.R3P	p.R3P	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)		3	423	-	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		3					A8K362	Missense_Mutation	SNP	ENST00000520347.1	37	c.8G>C	CCDS6291.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171479	0.57584	.	.	ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000519744;ENST00000517844;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336;ENST00000523922;ENST00000520454	.	.	.	5.39	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	.	.	.	0.80722	D	1	P	0.35944	0.529	B	0.27796	0.083	T	0.52704	-0.8540	8	0.87932	D	0	-0.2165	12.1205	0.53889	0.0:0.8596:0.0:0.1404	.	3	Q9Y5V0	ZN706_HUMAN	P	3	.	ENSP00000311768:R3P	R	-	2	0	ZNF706	102283138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.963000	0.63694	1.292000	0.44672	0.655000	0.94253	CGT		0.398	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380477.1		NM_016096		7	37	0	0	0	1	0	7	37		
MROH5	389690	broad.mit.edu	37	8	142490071	142490071	+	RNA	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:142490071G>T	ENST00000430863.1	-	0	994					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		TCTCCTGACCGTGGCACCGTT	0.597																																						uc003ywi.2		NaN																	0					0						c.(913-915)ACG>AAG		hypothetical protein LOC389690							114.0	119.0	117.0					8																	142490071		2020	4185	6205			389690						binding	g.chr8:142490071G>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142490071G>T						FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	p.T305K	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		8	995	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		305						Missense_Mutation	SNP	ENST00000430863.1	37	c.914C>A																																																																																					0.597	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4		NM_207414		10	35	1	0	1.15088e-07	1	1.1852e-07	10	35		
CYHR1	50626	broad.mit.edu	37	8	145689921	145689921	+	Silent	SNP	G	G	A	rs376180792		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:145689921G>A	ENST00000438911.2	-	2	301	c.168C>T	c.(166-168)agC>agT	p.S56S	CYHR1_ENST00000403000.2_Silent_p.S56S|CYHR1_ENST00000424149.2_Silent_p.S56S|CYHR1_ENST00000306145.5_Silent_p.S56S|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000530374.1_5'Flank|KIFC2_ENST00000301332.2_5'Flank	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	56						cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTTCGTGTGTGCTCAGCCCTG	0.637																																						uc003zcv.2		NaN																	0					0						c.(166-168)AGC>AGT		cysteine/histidine-rich 1 isoform 1		G	,,	0,4404		0,0,2202	50.0	57.0	55.0		168,168,168	2.9	1.0	8		55	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	CYHR1	NM_001129888.1,NM_032687.3,NM_138496.1	,,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,,	56/193,56/193,56/363	145689921	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	50626					perinuclear region of cytoplasm	zinc ion binding	g.chr8:145689921G>A	AB007965	CCDS6426.1, CCDS47943.1	8q24	2004-12-07	2005-07-24		ENSG00000187954	ENSG00000187954			17806	protein-coding gene	gene with protein product			"""cysteine and histidine rich 1"""			10745073	Standard	NM_138496		Approved	CHRP, KIAA0496, MGC13010	uc003zcv.2	Q6ZMK1	OTTHUMG00000165171	ENST00000438911.2:c.168C>T	8.37:g.145689921G>A						CYHR1_uc003zcw.2_Silent_p.S56S|CYHR1_uc003zcx.2_Silent_p.S56S|CYHR1_uc003zcy.2_Silent_p.S56S|KIFC2_uc003zcz.2_5'Flank	p.S56S	NM_138496	NP_612505	Q6ZMK1	CYHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		2	302	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		56					B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Silent	SNP	ENST00000438911.2	37	c.168C>T	CCDS47943.1																																																																																				0.637	CYHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382438.1		NM_032687		20	65	0	0	0	1	0	20	65		
DMRT3	58524	broad.mit.edu	37	9	990293	990293	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:990293C>T	ENST00000190165.2	+	2	745	c.707C>T	c.(706-708)tCg>tTg	p.S236L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	236					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GAGGGCCCCTCGGGGACTGTT	0.572																																						uc003zgw.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(706-708)TCG>TTG		doublesex and mab-3 related transcription factor							53.0	60.0	57.0					9																	990293		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990293C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.707C>T	9.37:g.990293C>T	ENSP00000190165:p.Ser236Leu						p.S236L	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	745	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	236					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.707C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	8.212	0.800556	0.16397	.	.	ENSG00000064218	ENST00000190165;ENST00000417254	T;T	0.31510	1.49;1.49	5.03	5.03	0.67393	.	0.365217	0.27686	N	0.018276	T	0.32645	0.0836	M	0.64997	1.995	0.33529	D	0.593363	B	0.34226	0.443	B	0.24394	0.053	T	0.53500	-0.8430	10	0.72032	D	0.01	-17.3518	18.3641	0.90385	0.0:1.0:0.0:0.0	.	236	Q9NQL9	DMRT3_HUMAN	L	236;99	ENSP00000190165:S236L;ENSP00000387472:S99L	ENSP00000190165:S236L	S	+	2	0	DMRT3	980293	0.997000	0.39634	0.093000	0.20910	0.009000	0.06853	4.952000	0.63618	2.339000	0.79563	0.557000	0.71058	TCG		0.572	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1		NM_021240		18	46	0	0	0	1	0	18	46		
KDM4C	23081	broad.mit.edu	37	9	7174705	7174705	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:7174705G>A	ENST00000381309.3	+	22	3712	c.3147G>A	c.(3145-3147)caG>caA	p.Q1049Q	KDM4C_ENST00000442236.2_Silent_p.Q794Q|KDM4C_ENST00000428870.2_Silent_p.Q736Q	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	1049					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GCTCTTTCCAGAAGAAGTGCC	0.498																																						uc003zkh.2		NaN																	0				ovary(1)	1						c.(3145-3147)CAG>CAA		jumonji domain containing 2C isoform 1							139.0	144.0	142.0					9																	7174705		2203	4300	6503	SO:0001819	synonymous_variant	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:7174705G>A	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.3147G>A	9.37:g.7174705G>A						KDM4C_uc011lmk.1_Silent_p.Q794Q|KDM4C_uc011lml.1_Silent_p.Q736Q	p.Q1049Q	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN			22	3727	+			1049					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	c.3147G>A	CCDS6471.1																																																																																				0.498	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1		NM_015061		43	114	0	0	0	1	0	43	114		
PTPRD	5789	broad.mit.edu	37	9	8485769	8485769	+	Silent	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:8485769C>A	ENST00000381196.4	-	25	3591	c.3048G>T	c.(3046-3048)gtG>gtT	p.V1016V	PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000540109.1_Silent_p.V1016V|PTPRD_ENST00000358503.5_Silent_p.V994V|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000356435.5_Silent_p.V1016V|PTPRD_ENST00000360074.4_Silent_p.V1003V|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1016	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TACCTTGATCCACAGGCAGTG	0.448										TSP Lung(15;0.13)																												uc003zkk.2		NaN																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3046-3048)GTG>GTT		protein tyrosine phosphatase, receptor type, D							63.0	60.0	61.0					9																	8485769		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.chr9:8485769C>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.3048G>T	9.37:g.8485769C>A		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.V1007V|PTPRD_uc003zkm.2_Silent_p.V1003V|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	p.V1016V	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)	27	3759	-		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)	1016			Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.3048G>T	CCDS43786.1																																																																																				0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3				4	9	1	0	5.9392e-07	1	6.10418e-07	4	9		
PTPRD	5789	broad.mit.edu	37	9	8633395	8633395	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:8633395C>G	ENST00000381196.4	-	11	817	c.274G>C	c.(274-276)Gat>Cat	p.D92H	PTPRD_ENST00000463477.1_Missense_Mutation_p.D92H|PTPRD_ENST00000486161.1_Missense_Mutation_p.D92H|PTPRD_ENST00000397611.3_Missense_Mutation_p.D92H|PTPRD_ENST00000397606.3_Missense_Mutation_p.D92H|PTPRD_ENST00000540109.1_Missense_Mutation_p.D92H|PTPRD_ENST00000358503.5_Missense_Mutation_p.D92H|PTPRD_ENST00000537002.1_Missense_Mutation_p.D92H|PTPRD_ENST00000356435.5_Missense_Mutation_p.D92H|PTPRD_ENST00000360074.4_Missense_Mutation_p.D92H|PTPRD_ENST00000355233.5_Missense_Mutation_p.D92H|PTPRD_ENST00000397617.3_Missense_Mutation_p.D92H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	92	Ig-like C2-type 1.				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)		ATGGCCTCATCCCTCGGAGTC	0.443										TSP Lung(15;0.13)																												uc003zkk.2		NaN																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(274-276)GAT>CAT		protein tyrosine phosphatase, receptor type, D							162.0	134.0	144.0					9																	8633395		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8633395C>G	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.274G>C	9.37:g.8633395C>G	ENSP00000370593:p.Asp92His	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.D92H|PTPRD_uc003zkq.2_Missense_Mutation_p.D92H|PTPRD_uc003zkr.2_Missense_Mutation_p.D92H|PTPRD_uc003zks.2_Missense_Mutation_p.D92H|PTPRD_uc003zkl.2_Missense_Mutation_p.D92H|PTPRD_uc003zkm.2_Missense_Mutation_p.D92H|PTPRD_uc003zkn.2_Missense_Mutation_p.D92H|PTPRD_uc003zko.2_Missense_Mutation_p.D92H|PTPRD_uc003zkt.1_Missense_Mutation_p.D92H	p.D92H	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)	13	985	-		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)	92			Ig-like C2-type 1.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.274G>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174217	0.94807	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	D;D;D;D;D;D;D;D;D;D;D;D;D	0.85556	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-2.0	6.05	6.05	0.98169	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92054	0.7482	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.992;0.992;1.0;1.0;0.981;1.0;0.997	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.993;0.993;1.0;1.0;0.993;1.0;0.996	D	0.90345	0.4362	9	.	.	.	.	20.599	0.99451	0.0:1.0:0.0:0.0	.	92;92;92;92;92;92;92;92;92;92	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	92	ENSP00000370593:D92H;ENSP00000348812:D92H;ENSP00000353187:D92H;ENSP00000351293:D92H;ENSP00000347373:D92H;ENSP00000380741:D92H;ENSP00000380735:D92H;ENSP00000440515:D92H;ENSP00000438164:D92H;ENSP00000417093:D92H;ENSP00000380731:D92H;ENSP00000417661:D92H;ENSP00000417890:D92H	.	D	-	1	0	PTPRD	8623395	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.769000	0.85360	2.871000	0.98454	0.637000	0.83480	GAT		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3				28	72	0	0	0	1	0	28	72		
PSIP1	11168	broad.mit.edu	37	9	15474012	15474012	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:15474012C>T	ENST00000380733.4	-	9	1196	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	PSIP1_ENST00000380738.4_Missense_Mutation_p.E285K|PSIP1_ENST00000380716.4_Missense_Mutation_p.E285K|PSIP1_ENST00000380715.1_Missense_Mutation_p.E285K|PSIP1_ENST00000397519.2_Missense_Mutation_p.E285K			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	285					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TATACCTTTTCACCTTCTTGA	0.274																																						uc003zlv.3		NaN																	0				breast(1)	1						c.(853-855)GAA>AAA		PC4 and SFRS1 interacting protein 1 isoform 2							81.0	78.0	79.0					9																	15474012		2202	4299	6501	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15474012C>T	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.853G>A	9.37:g.15474012C>T	ENSP00000370109:p.Glu285Lys					PSIP1_uc003zlw.3_Missense_Mutation_p.E285K|PSIP1_uc003zlz.3_Missense_Mutation_p.E285K|PSIP1_uc003zma.3_Missense_Mutation_p.E276K|PSIP1_uc003zly.2_Missense_Mutation_p.E285K	p.E285K	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	9	1183	-			285					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.853G>A	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229868	0.58777	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	T;T;T;T;T	0.50001	0.83;0.83;0.78;0.76;0.76	5.25	5.25	0.73442	.	0.104565	0.64402	D	0.000005	T	0.40522	0.1120	L	0.43152	1.355	0.28554	N	0.911468	B;B	0.27732	0.187;0.067	B;B	0.24848	0.056;0.037	T	0.37220	-0.9715	10	0.41790	T	0.15	.	13.5228	0.61578	0.0:0.9246:0.0:0.0754	.	285;285	O75475-2;O75475	.;PSIP1_HUMAN	K	285	ENSP00000370109:E285K;ENSP00000370114:E285K;ENSP00000370091:E285K;ENSP00000370092:E285K;ENSP00000380653:E285K	ENSP00000370091:E285K	E	-	1	0	PSIP1	15464012	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	3.042000	0.49815	2.611000	0.88343	0.563000	0.77884	GAA		0.274	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1		NM_033222		8	46	0	0	0	1	0	8	46		
C9orf72	203228	broad.mit.edu	37	9	27561630	27561630	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:27561630G>C	ENST00000380003.3	-	5	681	c.618C>G	c.(616-618)ctC>ctG	p.L206L	C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Silent_p.L206L	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	206					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		CATCATCATTGAGTACTGTAT	0.313																																						uc003zqq.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(616-618)CTC>CTG		hypothetical protein LOC203228 isoform a							60.0	56.0	57.0					9																	27561630		2203	4299	6502	SO:0001819	synonymous_variant	203228							g.chr9:27561630G>C	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.618C>G	9.37:g.27561630G>C						C9orf72_uc003zqr.1_Silent_p.L206L	p.L206L	NM_018325	NP_060795	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	5	715	-		all_neural(11;7.57e-10)	206					A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Silent	SNP	ENST00000380003.3	37	c.618C>G	CCDS6522.1																																																																																				0.313	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1		NM_018325		11	41	0	0	0	1	0	11	41		
BAG1	573	broad.mit.edu	37	9	33256861	33256861	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:33256861C>T	ENST00000379704.2	-	5	911	c.478G>A	c.(478-480)Gat>Aat	p.D160N	BAG1_ENST00000472232.3_Missense_Mutation_p.D275N|BAG1_ENST00000467389.2_5'UTR			Q99933	BAG1_HUMAN	BCL2-associated athanogene	275	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|chaperone cofactor-dependent protein refolding (GO:0070389)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			ACTCTCCTATCAAGTTTGCAG	0.428																																					GBM(77;1066 1502 5858 12192)	uc003zsj.2		NaN																	0				ovary(1)	1						c.(823-825)GAT>AAT		BCL2-associated athanogene isoform 1L							153.0	137.0	142.0					9																	33256861		2203	4300	6503	SO:0001583	missense	573				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	g.chr9:33256861C>T	AF022224	CCDS35004.1, CCDS55301.1	9p12	2010-12-09			ENSG00000107262	ENSG00000107262			937	protein-coding gene	gene with protein product		601497				7834747	Standard	NM_004323		Approved		uc003zsj.3	Q99933	OTTHUMG00000019766	ENST00000379704.2:c.478G>A	9.37:g.33256861C>T	ENSP00000369026:p.Asp160Asn					SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_Missense_Mutation_p.D137N|BAG1_uc003zsk.2_Missense_Mutation_p.D101N	p.D275N	NM_004323	NP_004314	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		5	912	-			275			Interaction with PPP1R15A.|BAG.		O75315|Q14414|Q53H32|Q5VZE8|Q5VZE9|Q5VZF0|Q96TG2|Q9Y2V4	Missense_Mutation	SNP	ENST00000379704.2	37	c.823G>A	CCDS55301.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611512	0.87258	.	.	ENSG00000107262	ENST00000472232;ENST00000379700;ENST00000379704	D;D	0.88431	-2.38;-2.38	5.32	4.29	0.51040	BAG domain (3);	0.093667	0.64402	N	0.000001	D	0.91885	0.7431	L	0.60455	1.87	0.58432	D	0.999996	D;D	0.89917	1.0;0.996	D;D	0.85130	0.997;0.995	D	0.90641	0.4575	9	.	.	.	-13.2091	9.6056	0.39632	0.0:0.874:0.0:0.126	.	204;275	Q99933-3;Q99933	.;BAG1_HUMAN	N	275;160;160	ENSP00000420514:D275N;ENSP00000369026:D160N	.	D	-	1	0	BAG1	33246861	1.000000	0.71417	0.981000	0.43875	0.998000	0.95712	5.148000	0.64857	1.226000	0.43582	0.655000	0.94253	GAT		0.428	BAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052042.3		NM_004323		22	66	0	0	0	1	0	22	66		
SLC28A3	64078	broad.mit.edu	37	9	86917179	86917179	+	Nonsense_Mutation	SNP	G	G	A	rs542312574		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:86917179G>A	ENST00000376238.4	-	5	509	c.460C>T	c.(460-462)Cga>Tga	p.R154*	SLC28A3_ENST00000537648.1_Nonsense_Mutation_p.R85*	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	154					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)	p.R154*(1)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	TCATCAATTCGATGTTCGTAT	0.453																																					Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2		NaN																	1	Substitution - Nonsense(1)		large_intestine(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(460-462)CGA>TGA		concentrative Na+-nucleoside cotransporter							121.0	110.0	114.0					9																	86917179		2203	4300	6503	SO:0001587	stop_gained	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86917179G>A	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.460C>T	9.37:g.86917179G>A	ENSP00000365413:p.Arg154*					SLC28A3_uc011lsy.1_Nonsense_Mutation_p.R85*|SLC28A3_uc004anu.1_Nonsense_Mutation_p.R154*|SLC28A3_uc010mqb.2_Nonsense_Mutation_p.R85*	p.R154*	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			5	585	-			154			Cytoplasmic (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Nonsense_Mutation	SNP	ENST00000376238.4	37	c.460C>T	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653356	0.47362	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	.	.	.	5.33	5.33	0.75918	.	0.745599	0.12769	N	0.440684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-0.8791	11.3464	0.49563	0.0:0.0:0.719:0.281	.	.	.	.	X	154;85	.	ENSP00000365413:R154X	R	-	1	2	SLC28A3	86106999	0.237000	0.23815	0.008000	0.14137	0.007000	0.05969	3.297000	0.51810	2.775000	0.95449	0.655000	0.94253	CGA		0.453	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1		NM_022127		21	45	0	0	0	1	0	21	45		
ROR2	4920	broad.mit.edu	37	9	94493358	94493358	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:94493358C>T	ENST00000375708.3	-	7	1215	c.1017G>A	c.(1015-1017)ccG>ccA	p.P339P	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.P199P	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	339	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCAGGGCCCACGGCTGGCACT	0.612																																						uc004arj.1		NaN																	0				lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(1015-1017)CCG>CCA		receptor tyrosine kinase-like orphan receptor 2							63.0	66.0	65.0					9																	94493358		2203	4300	6503	SO:0001819	synonymous_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94493358C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1017G>A	9.37:g.94493358C>T						ROR2_uc004ari.1_Silent_p.P199P|ROR2_uc004ark.2_Silent_p.P339P	p.P339P	NM_004560	NP_004551	Q01974	ROR2_HUMAN			7	1216	-			339			Extracellular (Potential).|Kringle.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	c.1017G>A	CCDS6691.1																																																																																				0.612	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1				33	51	0	0	0	1	0	33	51		
FGD3	89846	broad.mit.edu	37	9	95784614	95784614	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:95784614G>A	ENST00000375482.3	+	14	1996	c.1500G>A	c.(1498-1500)acG>acA	p.T500T	FGD3_ENST00000538555.1_Silent_p.T103T|FGD3_ENST00000416701.2_Silent_p.T500T|FGD3_ENST00000337352.6_Silent_p.T500T	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	500					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TCTAGATCACGAGCACCAGCC	0.637																																						uc004asw.2		NaN																	0				ovary(1)|breast(1)	2						c.(1498-1500)ACG>ACA		FYVE, RhoGEF and PH domain containing 3							57.0	60.0	59.0					9																	95784614		2041	4175	6216	SO:0001819	synonymous_variant	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95784614G>A	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1500G>A	9.37:g.95784614G>A						FGD3_uc004asx.2_Silent_p.T500T|FGD3_uc004asz.2_Silent_p.T500T|FGD3_uc011luc.1_Silent_p.T103T	p.T500T	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN			14	2128	+			500					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	c.1500G>A	CCDS43849.1																																																																																				0.637	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1		NM_033086		16	40	0	0	0	1	0	16	40		
ZNF462	58499	broad.mit.edu	37	9	109690005	109690005	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:109690005C>T	ENST00000277225.5	+	3	4101	c.3812C>T	c.(3811-3813)tCa>tTa	p.S1271L	ZNF462_ENST00000441147.2_Missense_Mutation_p.S116L|ZNF462_ENST00000457913.1_Missense_Mutation_p.S1271L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1271					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGGCAGTGCTCATATACCTCC	0.522																																						uc004bcz.2		NaN																	0				ovary(5)	5						c.(3811-3813)TCA>TTA		zinc finger protein 462							196.0	200.0	198.0					9																	109690005		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109690005C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3812C>T	9.37:g.109690005C>T	ENSP00000277225:p.Ser1271Leu					ZNF462_uc010mto.2_Missense_Mutation_p.S1119L|ZNF462_uc004bda.2_Missense_Mutation_p.S1119L	p.S1271L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	4101	+			1271			C2H2-type 11.		Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.3812C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722652	0.89298	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06687	3.27;3.69;3.83;3.83	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);	0.250639	0.41500	D	0.000864	T	0.14917	0.0360	L	0.27053	0.805	0.80722	D	1	P;D	0.56287	0.804;0.975	B;P	0.59761	0.307;0.863	T	0.04537	-1.0944	10	0.33940	T	0.23	.	15.6579	0.77158	0.0:0.8532:0.1468:0.0	.	1271;1271	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	1271;1271;154;116	ENSP00000277225:S1271L;ENSP00000414570:S1271L;ENSP00000363818:S154L;ENSP00000397306:S116L	ENSP00000277225:S1271L	S	+	2	0	ZNF462	108729826	0.982000	0.34865	0.919000	0.36401	0.943000	0.58893	5.811000	0.69187	2.505000	0.84491	0.555000	0.69702	TCA		0.522	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2		NM_021224		70	158	0	0	0	1	0	70	158		
ZNF462	58499	broad.mit.edu	37	9	109690177	109690177	+	Silent	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:109690177C>G	ENST00000277225.5	+	3	4273	c.3984C>G	c.(3982-3984)ctC>ctG	p.L1328L	ZNF462_ENST00000441147.2_Silent_p.L173L|ZNF462_ENST00000457913.1_Silent_p.L1328L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1328					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACGGTTTGCTCCTGCATTACC	0.527																																						uc004bcz.2		NaN																	0				ovary(5)	5						c.(3982-3984)CTC>CTG		zinc finger protein 462							125.0	112.0	116.0					9																	109690177		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109690177C>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3984C>G	9.37:g.109690177C>G						ZNF462_uc010mto.2_Silent_p.L1176L|ZNF462_uc004bda.2_Silent_p.L1176L	p.L1328L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	4273	+			1328					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.3984C>G	CCDS35096.1																																																																																				0.527	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2		NM_021224		33	105	0	0	0	1	0	33	105		
KLF4	9314	broad.mit.edu	37	9	110250458	110250458	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:110250458C>T	ENST00000374672.4	-	3	690	c.217G>A	c.(217-219)Gac>Aac	p.D73N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	73					cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CTCTCCAGGTCTGTGGCCACG	0.697																																						uc004bdh.2		NaN																	0				central_nervous_system(2)|lung(1)	3						c.(190-192)GAC>AAC		Kruppel-like factor 4 (gut)							15.0	19.0	18.0					9																	110250458		1953	3932	5885	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110250458C>T	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.217G>A	9.37:g.110250458C>T	ENSP00000363804:p.Asp73Asn					KLF4_uc004bdf.1_Missense_Mutation_p.D23N|KLF4_uc004bdg.2_Missense_Mutation_p.D73N	p.D64N	NM_004235	NP_004226	O43474	KLF4_HUMAN			3	811	-			73					B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.190G>A	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096731	0.56075	.	.	ENSG00000136826	ENST00000374672;ENST00000411706	T;T	0.21191	2.02;2.02	4.92	4.02	0.46733	.	0.000000	0.38605	N	0.001626	T	0.11452	0.0279	N	0.19112	0.55	0.37649	D	0.922346	B;B	0.30851	0.083;0.297	B;B	0.24974	0.057;0.053	T	0.19224	-1.0312	10	0.22109	T	0.4	.	9.8127	0.40833	0.0:0.903:0.0:0.097	.	73;73	O43474;O43474-1	KLF4_HUMAN;.	N	73;64	ENSP00000363804:D73N;ENSP00000399921:D64N	ENSP00000363804:D73N	D	-	1	0	KLF4	109290279	0.994000	0.37717	0.999000	0.59377	0.684000	0.39900	2.795000	0.47861	2.268000	0.75426	0.655000	0.94253	GAC		0.697	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2		NM_004235		5	20	0	0	0	1	0	5	20		
KIAA0368	23392	broad.mit.edu	37	9	114134882	114134882	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:114134882G>C	ENST00000338205.5	-	41	4574	c.4355C>G	c.(4354-4356)tCt>tGt	p.S1452C	KIAA0368_ENST00000465499.1_5'Flank|KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.S1630C			Q5VYK3	ECM29_HUMAN	KIAA0368	1458					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CAAAGCACAAGAGGTCTTGTA	0.363																																						uc004bfe.1		NaN																	0					0						c.(4888-4890)TCT>TGT		KIAA0368 protein							63.0	58.0	60.0					9																	114134882		1839	4095	5934	SO:0001583	missense	23392							g.chr9:114134882G>C	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4355C>G	9.37:g.114134882G>C	ENSP00000339889:p.Ser1452Cys						p.S1630C	NM_001080398	NP_001073867					43	4889	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.4889C>G		.	.	.	.	.	.	.	.	.	.	G	20.3	3.966608	0.74131	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.67865	-0.29	5.95	5.95	0.96441	.	0.121201	0.56097	D	0.000023	T	0.67059	0.2853	L	0.39898	1.24	0.80722	D	1	P	0.48503	0.911	P	0.48840	0.592	T	0.68059	-0.5509	10	0.54805	T	0.06	.	16.1157	0.81304	0.0:0.1695:0.8305:0.0	.	927	B3KXF2	.	C	1452;1630;927	ENSP00000259335:S1630C	ENSP00000259335:S1630C	S	-	2	0	KIAA0368	113174703	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.024000	0.76443	2.824000	0.97209	0.655000	0.94253	TCT		0.363	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2		NM_014686		5	24	0	0	0	1	0	5	24		
BRINP1	1620	broad.mit.edu	37	9	121929416	121929416	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:121929416C>T	ENST00000265922.3	-	8	2693	c.2232G>A	c.(2230-2232)ctG>ctA	p.L744L	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	744					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CCGTGTTGTACAGGTCCAAGG	0.537																																						uc004bkc.2		NaN																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(2230-2232)CTG>CTA		deleted in bladder cancer 1 precursor							233.0	225.0	227.0					9																	121929416		2203	4300	6503	SO:0001819	synonymous_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929416C>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2232G>A	9.37:g.121929416C>T							p.L744L	NM_014618	NP_055433	O60477	DBC1_HUMAN			8	2688	-			744					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.2232G>A	CCDS6822.1																																																																																				0.537	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2		NM_014618		28	127	0	0	0	1	0	28	127		
BRINP1	1620	broad.mit.edu	37	9	121930184	121930184	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:121930184C>T	ENST00000265922.3	-	8	1925	c.1464G>A	c.(1462-1464)ctG>ctA	p.L488L	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	488					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GCAGGTACTTCAGCTCCAGGT	0.577																																						uc004bkc.2		NaN																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(1462-1464)CTG>CTA		deleted in bladder cancer 1 precursor							220.0	160.0	181.0					9																	121930184		2203	4300	6503	SO:0001819	synonymous_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930184C>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1464G>A	9.37:g.121930184C>T							p.L488L	NM_014618	NP_055433	O60477	DBC1_HUMAN			8	1920	-			488					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.1464G>A	CCDS6822.1																																																																																				0.577	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2		NM_014618		9	34	0	0	0	1	0	9	34		
SH2D3C	10044	broad.mit.edu	37	9	130506924	130506924	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:130506924G>A	ENST00000314830.8	-	7	1832	c.1719C>T	c.(1717-1719)ggC>ggT	p.G573G	SH2D3C_ENST00000429553.1_Silent_p.G219G|SH2D3C_ENST00000373276.3_Silent_p.G505G|SH2D3C_ENST00000373274.3_Silent_p.G413G|SH2D3C_ENST00000373277.4_Silent_p.G416G|SH2D3C_ENST00000420366.1_Silent_p.G415G|SH2D3C_ENST00000471939.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	573					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCGCAGAAGGCCCACCTCCA	0.612																																						uc004bsc.2		NaN																	0				ovary(1)	1						c.(1717-1719)GGC>GGT		SH2 domain containing 3C isoform a							84.0	85.0	85.0					9																	130506924		2203	4300	6503	SO:0001819	synonymous_variant	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130506924G>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1719C>T	9.37:g.130506924G>A						SH2D3C_uc010mxo.2_Silent_p.G413G|SH2D3C_uc004bry.2_Silent_p.G415G|SH2D3C_uc004brz.3_Silent_p.G219G|SH2D3C_uc011mak.1_Silent_p.G219G|SH2D3C_uc004bsa.2_Silent_p.G416G|SH2D3C_uc004bsb.2_Silent_p.G505G	p.G573G	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			7	1861	-			573					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Silent	SNP	ENST00000314830.8	37	c.1719C>T	CCDS6877.1																																																																																				0.612	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1		NM_005489		31	93	0	0	0	1	0	31	93		
SETX	23064	broad.mit.edu	37	9	135153600	135153600	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:135153600G>A	ENST00000224140.5	-	21	6881	c.6699C>T	c.(6697-6699)ttC>ttT	p.F2233F	SETX_ENST00000372169.2_Silent_p.F2233F|SETX_ENST00000393220.1_Silent_p.F2233F|SETX_ENST00000477049.1_5'Flank	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2233					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCAGTCTGCAGAAGCGAGCCA	0.458																																						uc004cbk.2		NaN																	0				ovary(2)|skin(1)	3						c.(6697-6699)TTC>TTT		senataxin							151.0	135.0	140.0					9																	135153600		2203	4300	6503	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135153600G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6699C>T	9.37:g.135153600G>A						SETX_uc004cbj.2_Silent_p.F1852F|SETX_uc010mzt.2_Silent_p.F1852F	p.F2233F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	21	6882	-		Myeloproliferative disorder(178;0.204)	2233					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.6699C>T	CCDS6947.1																																																																																				0.458	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3		NM_015046		30	88	0	0	0	1	0	30	88		
FCN1	2219	broad.mit.edu	37	9	137809709	137809709	+	Silent	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:137809709C>G	ENST00000371806.3	-	1	100	c.9G>C	c.(7-9)ctG>ctC	p.L3L		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	3					cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TGGCTCCACTCAGCTCCATGC	0.587																																						uc004cfi.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(7-9)CTG>CTC		ficolin 1 precursor							71.0	70.0	70.0					9																	137809709		2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137809709C>G	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.9G>C	9.37:g.137809709C>G							p.L3L	NM_002003	NP_001994	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	1	101	-		Myeloproliferative disorder(178;0.0333)	3					Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.9G>C	CCDS6985.1																																																																																				0.587	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1		NM_002003		21	51	0	0	0	1	0	21	51		
SEC16A	9919	broad.mit.edu	37	9	139358973	139358973	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:139358973G>A	ENST00000371706.3	-	7	3844	c.3811C>T	c.(3811-3813)Cat>Tat	p.H1271Y	SEC16A_ENST00000290037.6_Missense_Mutation_p.H1271Y|SEC16A_ENST00000431893.2_Missense_Mutation_p.H1271Y|SEC16A_ENST00000313050.7_Missense_Mutation_p.H1449Y			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1271					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)		GCACAGACATGAGGCACTGAA	0.458																																						uc004chx.2		NaN																	0					0						c.(4345-4347)CAT>TAT		SEC16 homolog A							76.0	79.0	78.0					9																	139358973		1887	4106	5993	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139358973G>A	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.3811C>T	9.37:g.139358973G>A	ENSP00000360771:p.His1271Tyr					SEC16A_uc004chv.3_Missense_Mutation_p.H839Y|SEC16A_uc004chw.2_Missense_Mutation_p.H1449Y|SEC16A_uc010nbn.2_Missense_Mutation_p.H1449Y	p.H1449Y	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	9	4654	-		Myeloproliferative disorder(178;0.0511)	1271					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.4345C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.088621	0.94100	.	.	ENSG00000148396	ENST00000313050;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;1.0	D;D;D;D	0.91635	0.999;0.997;0.993;0.998	T	0.75551	-0.3278	10	0.66056	D	0.02	-33.9844	19.02	0.92910	0.0:0.0:1.0:0.0	.	1449;1271;1271;839	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	Y	1449;171;1271;1271;1271;839	ENSP00000325827:H1449Y;ENSP00000403525:H171Y;ENSP00000360771:H1271Y;ENSP00000290037:H1271Y;ENSP00000387583:H1271Y	ENSP00000290037:H1271Y	H	-	1	0	SEC16A	138478794	1.000000	0.71417	0.910000	0.35882	0.981000	0.71138	9.726000	0.98782	2.737000	0.93849	0.655000	0.94253	CAT		0.458	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1		XM_088459		20	66	0	0	0	1	0	20	66		
RABL6	55684	broad.mit.edu	37	9	139726762	139726762	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:139726762G>A	ENST00000311502.7	+	7	881	c.645G>A	c.(643-645)aaG>aaA	p.K215K	MIR4292_ENST00000585012.1_RNA|RABL6_ENST00000371675.3_Silent_p.K100K|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000371671.4_Silent_p.K215K|RABL6_ENST00000357466.2_Silent_p.K215K|RABL6_ENST00000432842.2_Silent_p.K177K|RABL6_ENST00000371663.4_Silent_p.K216K|RP11-216L13.18_ENST00000471502.1_RNA			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	215	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CTTCCATGAAGAACAGCTTCG	0.493																																						uc004cji.1		NaN																	0					0						c.(643-645)AAG>AAA		Rab-like GTP-binding protein 1 isoform 1							139.0	138.0	139.0					9																	139726762		1916	4119	6035	SO:0001819	synonymous_variant	55684				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding	g.chr9:139726762G>A	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.645G>A	9.37:g.139726762G>A						C9orf86_uc004cjm.2_Silent_p.K215K|C9orf86_uc004cjh.2_Silent_p.K215K|C9orf86_uc004cjj.1_Silent_p.K216K|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Silent_p.K215K|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Silent_p.K100K|C9orf86_uc004cjn.1_5'Flank	p.K215K	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)	7	913	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	215			Small GTPase-like.		A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Silent	SNP	ENST00000311502.7	37	c.645G>A	CCDS48058.1	.	.	.	.	.	.	.	.	.	.	.	6.931	0.541501	0.13250	.	.	ENSG00000196642	ENST00000436380;ENST00000425121	.	.	.	4.5	3.6	0.41247	.	.	.	.	.	T	0.62332	0.2419	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59440	-0.7454	4	.	.	.	-42.5982	11.6703	0.51396	0.0874:0.0:0.9126:0.0	.	.	.	.	K	173;126	.	.	E	+	1	0	C9orf86	138846583	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	5.197000	0.65141	0.885000	0.36088	0.313000	0.20887	GAA		0.493	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4		NM_024718		25	58	0	0	0	1	0	25	58		
MXRA5	25878	broad.mit.edu	37	X	3239561	3239561	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:3239561C>T	ENST00000217939.6	-	5	4319	c.4165G>A	c.(4165-4167)Ggg>Agg	p.G1389R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1389						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGTAGCCTCCCAGGCTGGGCC	0.507																																						uc004crg.3		NaN																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(4165-4167)GGG>AGG		adlican precursor							31.0	30.0	31.0					X																	3239561		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3239561C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4165G>A	X.37:g.3239561C>T	ENSP00000217939:p.Gly1389Arg						p.G1389R	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	4322	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1389					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.4165G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	1.969	-0.437035	0.04636	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62364	0.03	2.92	-1.59	0.08453	.	1.049910	0.07653	N	0.932352	T	0.35422	0.0931	N	0.17082	0.46	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.13683	-1.0500	10	0.13853	T	0.58	.	0.7565	0.00999	0.17:0.3214:0.1672:0.3413	.	1389	Q9NR99	MXRA5_HUMAN	R	1389	ENSP00000217939:G1389R	ENSP00000217939:G1389R	G	-	1	0	MXRA5	3249561	0.001000	0.12720	0.000000	0.03702	0.148000	0.21650	-0.195000	0.09546	-0.499000	0.06623	0.436000	0.28706	GGG		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2		NM_015419		15	8	0	0	0	1	0	15	8		
MXRA5	25878	broad.mit.edu	37	X	3239741	3239741	+	Missense_Mutation	SNP	C	C	T	rs146955381	byFrequency	TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:3239741C>T	ENST00000217939.6	-	5	4139	c.3985G>A	c.(3985-3987)Gat>Aat	p.D1329N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1329						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGGCAACATCATCCTTAATT	0.373																																						uc004crg.3		NaN																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(3985-3987)GAT>AAT		adlican precursor		C	ASN/ASP	3,3832		0,3,1629,571	145.0	126.0	132.0		3985	-2.4	0.0	X	dbSNP_134	132	0,6728		0,0,2428,1872	no	missense	MXRA5	NM_015419.3	23	0,3,4057,2443	TT,TC,CC,C		0.0,0.0782,0.0284	benign	1329/2829	3239741	3,10560	2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3239741C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3985G>A	X.37:g.3239741C>T	ENSP00000217939:p.Asp1329Asn						p.D1329N	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	4142	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1329					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3985G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	2.932	-0.220888	0.06061	7.82E-4	0.0	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64803	-0.12	3.41	-2.42	0.06542	.	1.982440	0.03342	U	0.194887	T	0.42291	0.1196	N	0.19112	0.55	0.09310	N	1	P	0.37781	0.608	B	0.32465	0.146	T	0.21415	-1.0246	10	0.25751	T	0.34	.	7.0937	0.25297	0.4345:0.2856:0.2799:0.0	.	1329	Q9NR99	MXRA5_HUMAN	N	1329	ENSP00000217939:D1329N	ENSP00000217939:D1329N	D	-	1	0	MXRA5	3249741	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-2.042000	0.01414	-1.556000	0.01695	0.436000	0.28706	GAT		0.373	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2		NM_015419		41	35	0	0	0	1	0	41	35		
MXRA5	25878	broad.mit.edu	37	X	3239744	3239744	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:3239744C>T	ENST00000217939.6	-	5	4136	c.3982G>A	c.(3982-3984)Gat>Aat	p.D1328N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1328						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCAACATCATCCTTAATTTCT	0.373																																						uc004crg.3		NaN																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(3982-3984)GAT>AAT		adlican precursor							145.0	127.0	133.0					X																	3239744		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3239744C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3982G>A	X.37:g.3239744C>T	ENSP00000217939:p.Asp1328Asn						p.D1328N	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	4139	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1328					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3982G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	0.202	-1.043725	0.01997	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62498	0.02	3.41	-5.09	0.02920	.	1.293710	0.05790	N	0.610122	T	0.28532	0.0706	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32079	-0.9920	10	0.02654	T	1	.	6.0117	0.19580	0.152:0.542:0.0:0.3059	.	1328	Q9NR99	MXRA5_HUMAN	N	1328	ENSP00000217939:D1328N	ENSP00000217939:D1328N	D	-	1	0	MXRA5	3249744	0.000000	0.05858	0.000000	0.03702	0.358000	0.29455	-0.036000	0.12185	-1.742000	0.01342	0.436000	0.28706	GAT		0.373	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2		NM_015419		39	34	0	0	0	1	0	39	34		
PIR	8544	broad.mit.edu	37	X	15474083	15474083	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:15474083G>C	ENST00000380421.3	-	5	828	c.368C>G	c.(367-369)tCa>tGa	p.S123*	PIR_ENST00000380420.5_Nonsense_Mutation_p.S123*|PIR_ENST00000476381.1_5'UTR	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	123					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					CATCTTCTCTGAGCTCCTCAA	0.527																																					Ovarian(180;1587 2015 10555 34192 51653)	uc004cwu.2		NaN																	0				ovary(1)	1						c.(367-369)TCA>TGA		pirin							211.0	209.0	210.0					X																	15474083		2203	4300	6503	SO:0001587	stop_gained	8544				transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	g.chrX:15474083G>C	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.368C>G	X.37:g.15474083G>C	ENSP00000369786:p.Ser123*					PIR_uc004cwv.2_Nonsense_Mutation_p.S123*	p.S123*	NM_003662	NP_003653	O00625	PIR_HUMAN			5	606	-	Hepatocellular(33;0.183)		123					Q5U0G0|Q6FHD2	Nonsense_Mutation	SNP	ENST00000380421.3	37	c.368C>G	CCDS14167.1	.	.	.	.	.	.	.	.	.	.	G	40	8.160964	0.98683	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	.	.	.	6.04	5.17	0.71159	.	0.263848	0.32703	N	0.005755	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-28.1579	13.9239	0.63950	0.0:0.1491:0.8509:0.0	.	.	.	.	X	123	.	ENSP00000369785:S123X	S	-	2	0	PIR	15384004	0.934000	0.31675	0.944000	0.38274	0.913000	0.54294	2.441000	0.44864	1.289000	0.44618	-0.234000	0.12200	TCA		0.527	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1		NM_003662		24	146	0	0	0	1	0	24	146		
NHS	4810	broad.mit.edu	37	X	17750460	17750460	+	Missense_Mutation	SNP	G	G	C	rs140651691	byFrequency	TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:17750460G>C	ENST00000380060.3	+	8	5107	c.4769G>C	c.(4768-4770)aGc>aCc	p.S1590T	NHS_ENST00000398097.3_Missense_Mutation_p.S1434T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1611					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCTGCAGCCAGCAGCAGCCGC	0.592													G|||	2	0.000529801	0.0015	0.0	3775	,	,		12452	0.0		0.0	False		,,,				2504	0.0					uc004cxx.2		NaN																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(4768-4770)AGC>ACC		Nance-Horan syndrome protein isoform 1		G	THR/SER,THR/SER	11,3824		0,10,1,1622,570	44.0	44.0	44.0		4301,4769	5.9	1.0	X	dbSNP_134	44	0,6727		0,0,0,2428,1871	yes	missense,missense	NHS	NM_001136024.2,NM_198270.2	58,58	0,10,1,4050,2441	CC,CG,C,GG,G		0.0,0.2868,0.1041	benign,benign	1434/1475,1590/1631	17750460	11,10551	2203	4299	6502	SO:0001583	missense	4810					nucleus		g.chrX:17750460G>C		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4769G>C	X.37:g.17750460G>C	ENSP00000369400:p.Ser1590Thr					NHS_uc011mix.1_Missense_Mutation_p.S1611T|NHS_uc004cxy.2_Missense_Mutation_p.S1434T|NHS_uc004cxz.2_Missense_Mutation_p.S1413T|NHS_uc004cya.2_Missense_Mutation_p.S1313T	p.S1590T	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			8	5107	+	Hepatocellular(33;0.183)		1590					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.4769G>C	CCDS14181.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	21.1	4.091215	0.76756	0.002868	0.0	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.50277	0.75;0.77	5.87	5.87	0.94306	.	0.079485	0.85682	D	0.000000	T	0.67144	0.2862	L	0.60455	1.87	0.48087	D	0.999582	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	P;P;P;D	0.73380	0.84;0.84;0.84;0.98	T	0.66862	-0.5816	10	0.59425	D	0.04	-18.4841	19.3889	0.94570	0.0:0.0:1.0:0.0	.	1611;1432;1434;1590	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	T	1590;1434;1432	ENSP00000369400:S1590T;ENSP00000381170:S1434T	ENSP00000369397:S1432T	S	+	2	0	NHS	17660381	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.793000	0.69060	2.618000	0.88619	0.600000	0.82982	AGC		0.592	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1		NM_198270		4	47	0	0	0	1	0	4	47		
CACNA1F	778	broad.mit.edu	37	X	49065842	49065842	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:49065842C>T	ENST00000376265.2	-	42	4927	c.4866G>A	c.(4864-4866)cgG>cgA	p.R1622R	CACNA1F_ENST00000376251.1_Silent_p.R1557R|CACNA1F_ENST00000323022.5_Silent_p.R1611R	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1622					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTGCAGGCTCCGCAGACCAG	0.607																																						uc004dnb.2		NaN																	0				breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(4864-4866)CGG>CGA		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						53.0	41.0	45.0					X																	49065842		2203	4299	6502	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49065842C>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4866G>A	X.37:g.49065842C>T						CACNA1F_uc010nip.2_Silent_p.R1611R	p.R1622R	NM_005183	NP_005174	O60840	CAC1F_HUMAN			42	4928	-			1622			Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.4866G>A	CCDS35253.1																																																																																				0.607	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1		NM_005183		6	10	0	0	0	1	0	6	10		
RRAGB	10325	broad.mit.edu	37	X	55784744	55784744	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:55784744G>A	ENST00000262850.7	+	11	1536	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N	RRAGB_ENST00000374941.4_Missense_Mutation_p.D337N	NM_016656.3	NP_057740.2			Ras-related GTP binding B									p.D365H(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GGAAAGAGTGGATGGACCAAA	0.403																																						uc004dup.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1093-1095)GAT>AAT		Ras-related GTP binding B long isoform							85.0	71.0	75.0					X																	55784744		2203	4300	6503	SO:0001583	missense	10325				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	g.chrX:55784744G>A	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.1093G>A	X.37:g.55784744G>A	ENSP00000262850:p.Asp365Asn					RRAGB_uc004duq.2_Missense_Mutation_p.D337N	p.D365N	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN			11	1744	+			365						Missense_Mutation	SNP	ENST00000262850.7	37	c.1093G>A	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228966	0.58777	.	.	ENSG00000083750	ENST00000374941;ENST00000262850	T	0.65364	-0.15	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	N	0.01668	-0.77	0.58432	D	0.999999	B;B	0.11235	0.001;0.004	B;B	0.11329	0.001;0.006	T	0.20706	-1.0267	10	0.28530	T	0.3	-14.8612	14.4258	0.67215	0.0:0.0:1.0:0.0	.	337;365	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	N	337;365	ENSP00000364077:D337N	ENSP00000262850:D365N	D	+	1	0	RRAGB	55801469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.743000	0.91592	2.202000	0.70862	0.529000	0.55759	GAT		0.403	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1		NM_016656		9	5	0	0	0	1	0	9	5		
ZNF75D	7626	broad.mit.edu	37	X	134425016	134425016	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:134425016C>G	ENST00000370766.3	-	6	3451	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	ZNF75D_ENST00000370764.1_Missense_Mutation_p.E153Q|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	248	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AATTGCCACTCTTCCTCAGAA	0.393																																						uc004eyp.2		NaN																	0					0						c.(742-744)GAG>CAG		zinc finger protein 75							111.0	103.0	106.0					X																	134425016		2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134425016C>G	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.742G>C	X.37:g.134425016C>G	ENSP00000359802:p.Glu248Gln					ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_Missense_Mutation_p.E27Q|ZNF75D_uc004eyo.2_Missense_Mutation_p.E153Q	p.E248Q	NM_007131	NP_009062	P51815	ZN75D_HUMAN			6	3397	-			248			KRAB.		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.742G>C	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117588	0.37339	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.11604	2.76;2.76	2.78	2.78	0.32641	Krueppel-associated box (4);	0.000000	0.33438	N	0.004908	T	0.33177	0.0854	M	0.88704	2.975	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.04115	-1.0976	10	0.46703	T	0.11	.	8.277	0.31879	0.0:1.0:0.0:0.0	.	248;153	P51815;A6NK62	ZN75D_HUMAN;.	Q	248;153	ENSP00000359802:E248Q;ENSP00000359800:E153Q	ENSP00000359800:E153Q	E	-	1	0	ZNF75D	134252682	1.000000	0.71417	0.316000	0.25252	0.407000	0.30961	1.458000	0.35223	1.668000	0.50843	0.513000	0.50165	GAG		0.393	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1		NM_007131		8	85	0	0	0	1	0	8	85		
SLC9A6	10479	broad.mit.edu	37	X	135126738	135126738	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:135126738G>A	ENST00000370698.3	+	16	1900	c.1865G>A	c.(1864-1866)gGa>gAa	p.G622E	SLC9A6_ENST00000370701.1_Missense_Mutation_p.G602E|SLC9A6_ENST00000370695.4_Missense_Mutation_p.G654E	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	622					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AGATTTATGGGAAACAGTTCT	0.468																																						uc004ezj.2		NaN																	0				ovary(1)	1						c.(1864-1866)GGA>GAA		solute carrier family 9 (sodium/hydrogen							101.0	93.0	96.0					X																	135126738		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135126738G>A	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1865G>A	X.37:g.135126738G>A	ENSP00000359732:p.Gly622Glu					SLC9A6_uc004ezk.2_Missense_Mutation_p.G654E	p.G622E	NM_006359	NP_006350	Q92581	SL9A6_HUMAN			16	1941	+	Acute lymphoblastic leukemia(192;0.000127)		622					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1865G>A	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328384	0.41197	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.29142	1.58;1.58;1.58	5.48	4.61	0.57282	.	0.165937	0.53938	N	0.000056	T	0.31009	0.0783	L	0.59436	1.845	0.58432	D	0.999995	B;B	0.13145	0.0;0.007	B;B	0.14023	0.004;0.01	T	0.05599	-1.0875	10	0.36615	T	0.2	.	12.9159	0.58205	0.0808:0.0:0.9192:0.0	.	654;622	Q92581-2;Q92581	.;SL9A6_HUMAN	E	602;622;654	ENSP00000359735:G602E;ENSP00000359732:G622E;ENSP00000359729:G654E	ENSP00000359729:G654E	G	+	2	0	SLC9A6	134954404	0.995000	0.38212	0.989000	0.46669	0.967000	0.64934	2.475000	0.45162	1.177000	0.42855	0.600000	0.82982	GGA		0.468	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1		NM_006359		23	17	0	0	0	1	0	23	17		
GPR112	139378	broad.mit.edu	37	X	135428058	135428058	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:135428058G>C	ENST00000394143.1	+	6	2484	c.2193G>C	c.(2191-2193)ttG>ttC	p.L731F	GPR112_ENST00000370652.1_Missense_Mutation_p.L731F|GPR112_ENST00000287534.4_Missense_Mutation_p.L668F|GPR112_ENST00000412101.1_Missense_Mutation_p.L526F|GPR112_ENST00000394141.1_Missense_Mutation_p.L526F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	731					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TATCCAAATTGACATCACCAT	0.398																																						uc004ezu.1		NaN																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(2191-2193)TTG>TTC		G-protein coupled receptor 112							91.0	69.0	77.0					X																	135428058		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428058G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2193G>C	X.37:g.135428058G>C	ENSP00000377699:p.Leu731Phe					GPR112_uc010nsb.1_Missense_Mutation_p.L526F|GPR112_uc010nsc.1_Missense_Mutation_p.L498F	p.L731F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	2484	+	Acute lymphoblastic leukemia(192;0.000127)		731			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.2193G>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	12.86	2.063573	0.36373	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.34667	1.39;1.39;1.35;1.48;1.35	2.86	0.894	0.19242	.	.	.	.	.	T	0.33498	0.0865	N	0.19112	0.55	0.09310	N	1	D;D;P	0.62365	0.991;0.983;0.718	P;P;B	0.62184	0.899;0.827;0.118	T	0.12243	-1.0555	9	0.38643	T	0.18	.	3.1752	0.06566	0.1682:0.0:0.5723:0.2596	.	668;526;731	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	F	731;731;526;668;526	ENSP00000377699:L731F;ENSP00000359686:L731F;ENSP00000416526:L526F;ENSP00000287534:L668F;ENSP00000377697:L526F	ENSP00000287534:L668F	L	+	3	2	GPR112	135255724	0.002000	0.14202	0.001000	0.08648	0.137000	0.21094	0.344000	0.19962	-0.018000	0.14079	0.279000	0.19357	TTG		0.398	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1				29	17	0	0	0	1	0	29	17		
GPR101	83550	broad.mit.edu	37	X	136113174	136113174	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:136113174C>T	ENST00000298110.1	-	1	659	c.660G>A	c.(658-660)cgG>cgA	p.R220R		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CATGCTGCCTCCGGGCTGCAC	0.537																																						uc011mwh.1		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(658-660)CGG>CGA		G protein-coupled receptor 101							93.0	81.0	85.0					X																	136113174		2203	4300	6503	SO:0001819	synonymous_variant	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113174C>T	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.660G>A	X.37:g.136113174C>T							p.R220R	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	660	-	Acute lymphoblastic leukemia(192;0.000127)		220			Cytoplasmic (Potential).		Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	c.660G>A	CCDS14662.1																																																																																				0.537	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1				33	22	0	0	0	1	0	33	22		
MAGEC1	9947	broad.mit.edu	37	X	140996131	140996131	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:140996131G>C	ENST00000285879.4	+	4	3227	c.2941G>C	c.(2941-2943)Gac>Cac	p.D981H	MAGEC1_ENST00000406005.2_Missense_Mutation_p.D48H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	981	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAACACATTAGACCTCACCTC	0.468										HNSCC(15;0.026)																												uc004fbt.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2941-2943)GAC>CAC		melanoma antigen family C, 1							121.0	115.0	117.0					X																	140996131		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140996131G>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2941G>C	X.37:g.140996131G>C	ENSP00000285879:p.Asp981His	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Missense_Mutation_p.D48H	p.D981H	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	3227	+	Acute lymphoblastic leukemia(192;6.56e-05)		981			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2941G>C	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	4.755	0.140408	0.09083	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.05199	3.48;3.48	0.837	-0.194	0.13240	.	.	.	.	.	T	0.17534	0.0421	M	0.78916	2.43	0.09310	N	1	D	0.67145	0.996	P	0.61132	0.884	T	0.07177	-1.0786	8	0.87932	D	0	.	.	.	.	.	981	O60732	MAGC1_HUMAN	H	981;48	ENSP00000285879:D981H;ENSP00000385500:D48H	ENSP00000285879:D981H	D	+	1	0	MAGEC1	140823797	0.002000	0.14202	0.011000	0.14972	0.036000	0.12997	0.546000	0.23284	-0.128000	0.11641	0.279000	0.19357	GAC		0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462		52	44	0	0	0	1	0	52	44		
GPR50	9248	broad.mit.edu	37	X	150349067	150349067	+	Missense_Mutation	SNP	G	G	A	rs370636515		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:150349067G>A	ENST00000218316.3	+	2	1081	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	338	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGCCCGCGCCCGTGCCCA	0.567													G|||	1	0.000264901	0.0	0.0	3775	,	,		14332	0.0		0.0	False		,,,				2504	0.001					uc010ntg.1		NaN																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1012-1014)GCC>ACC		G protein-coupled receptor 50		G	THR/ALA	0,3660		0,0,0,1545,570	95.0	99.0	98.0		1012	4.2	0.7	X		98	2,6596		0,1,1,2393,1809	no	missense	GPR50	NM_004224.3	58	0,1,1,3938,2379	AA,AG,A,GG,G		0.0303,0.0,0.0195	possibly-damaging	338/618	150349067	2,10256	2115	4204	6319	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349067G>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1012G>A	X.37:g.150349067G>A	ENSP00000218316:p.Ala338Thr					uc004fes.1_5'Flank|GPR50_uc011myc.1_3'UTR	p.A338T	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	1147	+	Acute lymphoblastic leukemia(192;6.56e-05)		338			Cytoplasmic (Potential).|Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.1012G>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118388	0.56505	0.0	3.03E-4	ENSG00000102195	ENST00000218316	T	0.58797	0.31	4.24	4.24	0.50183	.	0.000000	0.38663	N	0.001612	T	0.31358	0.0794	N	0.24115	0.695	0.21762	N	0.999556	P	0.47545	0.897	B	0.26770	0.073	T	0.32107	-0.9919	10	0.42905	T	0.14	-15.2523	7.6856	0.28538	0.1207:0.0:0.8793:0.0	.	338	Q13585	MTR1L_HUMAN	T	338	ENSP00000218316:A338T	ENSP00000218316:A338T	A	+	1	0	GPR50	150099725	0.006000	0.16342	0.676000	0.29932	0.101000	0.19017	1.524000	0.35942	1.860000	0.53959	0.468000	0.43344	GCC		0.567	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1		NM_004224		8	95	0	0	0	1	0	8	95		
RPS4Y2	140032	broad.mit.edu	37	Y	22918664	22918664	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrY:22918664G>A	ENST00000288666.5	+	2	4	c.4G>A	c.(4-6)Gcc>Acc	p.A2T		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	2					translation (GO:0006412)	ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			lung(2)	2						TCTTTTTCAGGCCCGGGGCCC	0.433																																						uc011nbb.1		NaN																	0					0						c.(4-6)GCC>ACC		ribosomal protein S4, Y-linked 2							63.0	65.0	64.0					Y																	22918664		585	1929	2514	SO:0001630	splice_region_variant	140032				translation	ribosome	rRNA binding|structural constituent of ribosome	g.chrY:22918664G>A	AF497481	CCDS44028.1	Yq11.223	2006-02-22	2006-02-22	2006-02-22	ENSG00000157828	ENSG00000157828		"""S ribosomal proteins"""	18501	protein-coding gene	gene with protein product		400030	"""ribosomal protein S4, Y-linked 2 pseudogene"""	RPS4Y2P		12815422	Standard	NM_001039567		Approved		uc011nbb.2	Q8TD47	OTTHUMG00000036540	ENST00000288666.5:c.4-1G>A	Y.37:g.22918664G>A							p.A2T	NM_001039567	NP_001034656	Q8TD47	RS4Y2_HUMAN			2	100	+			2					A6NIR6	Missense_Mutation	SNP	ENST00000288666.5	37	c.4G>A	CCDS44028.1	.	.	.	.	.	.	.	.	.	.	.	12.24	1.878536	0.33162	.	.	ENSG00000157828	ENST00000288666	.	.	.	0.369	0.369	0.16151	.	0.000000	0.64402	U	0.000007	T	0.34077	0.0885	M	0.83312	2.635	.	.	.	P	0.35714	0.517	B	0.34242	0.178	T	0.15867	-1.0422	6	.	.	.	.	.	.	.	.	2	Q8TD47	RS4Y2_HUMAN	T	2	.	.	A	+	1	0	RPS4Y2	21328052	1.000000	0.71417	0.030000	0.17652	0.139000	0.21198	4.785000	0.62418	0.470000	0.27294	0.271000	0.19318	GCC		0.433	RPS4Y2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088873.1			Missense_Mutation	6	10	0	0	0	1	0	6	10		
PRKD3	23683	broad.mit.edu	37	2	37513484	37513484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:37513484delC	ENST00000379066.1	-	6	1508	c.746delG	c.(745-747)agafs	p.R249fs	PRKD3_ENST00000234179.2_Frame_Shift_Del_p.R249fs			O94806	KPCD3_HUMAN	protein kinase D3	249					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AGAAGGAATTCTCTTACTTGG	0.418																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(745-747)AGAfs		protein kinase D3							128.0	110.0	116.0					2																	37513484		2203	4300	6503	SO:0001589	frameshift_variant	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37513484delC	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.746delG	2.37:g.37513484delC	ENSP00000368356:p.Arg249fs					PRKD3_uc002rqf.1_Frame_Shift_Del_p.R249fs	p.R249fs	NM_005813	NP_005804	O94806	KPCD3_HUMAN			5	1301	-		all_hematologic(82;0.21)	249					D6W587|Q53TR7|Q8NEL8	Frame_Shift_Del	DEL	ENST00000379066.1	37	c.746delG	CCDS1789.1																																																																																				0.418	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3		NM_005813		15	52	NaN	NaN	NaN	NaN	NaN	15	52	---	---
EP300	2033	broad.mit.edu	37	22	41564578	41564580	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08			GAA	-	GAA	GAA		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr22:41564578_41564580delGAA	ENST00000263253.7	+	24	5219_5221	c.4000_4002delGAA	c.(4000-4002)gaadel	p.E1334del	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1334	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAAAACCGTGGAAGTAAAACCAG	0.429			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4000-4002)GAAdel		E1A binding protein p300																																				SO:0001651	inframe_deletion	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41564578_41564580delGAA	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4000_4002delGAA	22.37:g.41564578_41564580delGAA	ENSP00000263253:p.Glu1334del						p.E1334del	NM_001429	NP_001420	Q09472	EP300_HUMAN			24	4395_4397	+			1334					B1AKC2	In_Frame_Del	DEL	ENST00000263253.7	37	c.4000_4002delGAA	CCDS14010.1																																																																																				0.429	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		15	49	NaN	NaN	NaN	NaN	NaN	15	49	---	---
CDKN1A	1026	broad.mit.edu	37	6	36652198	36652199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:36652198_36652199insG	ENST00000405375.1	+	2	555_556	c.320_321insG	c.(319-324)gaggaafs	p.E108fs	CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.E142fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.E108fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.E108fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	108					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|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)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GGGACAGCAGAGGAAGACCATG	0.653																																						uc003omm.3		NaN																	0				ovary(1)|breast(1)	2						c.(319-321)GAGfs		cyclin-dependent kinase inhibitor 1A																																				SO:0001589	frameshift_variant	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36652198_36652199insG	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.322dupG	6.37:g.36652200_36652200dupG	ENSP00000384849:p.Glu108fs					CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.E141fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.E107fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.E107fs	p.E107fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	442_443	+			107					Q14010|Q6FI05|Q9BUT4	Frame_Shift_Ins	INS	ENST00000405375.1	37	c.320_321insG	CCDS4824.1																																																																																				0.653	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		8	19	NaN	NaN	NaN	NaN	NaN	8	19	---	---
LY96	23643	broad.mit.edu	37	8	74903693	74903693	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:74903693delT	ENST00000284818.2	+	1	107	c.16delT	c.(16-18)tttfs	p.F7fs	LY96_ENST00000518893.1_Frame_Shift_Del_p.F7fs	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	7					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|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 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)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ACCATTTCTGTTTTTTTCCAC	0.368																																					GBM(131;1357 1748 34893 50149 52212)	uc003yad.2		NaN																	0					0						c.(16-18)TTTfs		MD-2 protein precursor							206.0	193.0	197.0					8																	74903693		2203	4300	6503	SO:0001589	frameshift_variant	23643				cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	g.chr8:74903693delT	AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.16delT	8.37:g.74903693delT	ENSP00000284818:p.Phe7fs						p.F6fs	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		1	107	+	Breast(64;0.0311)		6					B3Y6A5|E5RJJ7	Frame_Shift_Del	DEL	ENST00000284818.2	37	c.16delT	CCDS6216.1																																																																																				0.368	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2		NM_015364		23	75	NaN	NaN	NaN	NaN	NaN	23	75	---	---
RAD23B	5887	broad.mit.edu	37	9	110062443	110062451	+	In_Frame_Del	DEL	ATTGAATCT	ATTGAATCT	-			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:110062443_110062451delATTGAATCT	ENST00000358015.3	+	2	439_447	c.88_96delATTGAATCT	c.(88-96)attgaatctdel	p.IES30del	RAD23B_ENST00000416373.2_De_novo_Start_InFrame	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	30	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAAGAGAAGATTGAATCTGAAAAGGGGA	0.287								Direct reversal of damage;Nucleotide excision repair (NER)																														uc004bde.2		NaN																	0				ovary(1)	1						c.(88-96)ATTGAATCTdel	Direct_reversal_of_damage|NER	UV excision repair protein RAD23 homolog B																																				SO:0001651	inframe_deletion	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110062443_110062451delATTGAATCT		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.88_96delATTGAATCT	9.37:g.110062443_110062451delATTGAATCT	ENSP00000350708:p.Ile30_Ser32del					RAD23B_uc011lwa.1_In_Frame_Del_p.IES30del|RAD23B_uc011lwb.1_In_Frame_Del_p.IES9del	p.IES30del	NM_002874	NP_002865	P54727	RD23B_HUMAN			2	455_463	+			30_32			Ubiquitin-like.		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	In_Frame_Del	DEL	ENST00000358015.3	37	c.88_96delATTGAATCT	CCDS6769.1																																																																																				0.287	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1		NM_002874		16	55	NaN	NaN	NaN	NaN	NaN	16	55	---	---
